Item | Value |
---|---|
geneid | 1080 |
ensemblid | ENSG00000001626.18 |
hgncid | 1884 |
symbol | CFTR |
name | CF transmembrane conductance regulator |
refseq_nuc | NM_000492.4 |
refseq_prot | NP_000483.3 |
ensembl_nuc | ENST00000003084.11 |
ensembl_prot | ENSP00000003084.6 |
mane_status | MANE Select |
chr | chr7 |
start | 117480025 |
end | 117668665 |
strand | + |
ver | v1.2 |
region | chr7:117480025-117668665 |
region5000 | chr7:117475025-117673665 |
regionname0 | CFTR_chr7_117480025_117668665 |
regionname5000 | CFTR_chr7_117475025_117673665 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 1480 | 127 | 60 | 19 | 31 | 4 | 12 | 23 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0002 | 1/0 | 1480 | 55 | 4 | 10 | 28 | 4 | 8 | 21 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0003 | 0/0 | 1480 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0004 | 0/0 | 1480 | 2 | 0 | 0 | 1 | 1 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0005 | 0/0 | 1480 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0006 | 0/0 | 1480 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0007 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0008 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0009 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0010 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0011 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0012 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0013 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0014 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0015 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0016 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
a0017 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | MQRSP others(1475): Show |
chr7 | 117475025 | 117673665 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 4440 | 65 | 27 | 4 | 28 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0003 | 0/0 | 4440 | 22 | 7 | 7 | 2 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0004 | 0/1 | 4440 | 22 | 13 | 6 | 0 | 2 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0005 | 0/0 | 4440 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0006 | 0/0 | 4440 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0008 | 0/0 | 4440 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0017 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0001c0019 | 0/0 | 4440 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0002c0002 | 1/0 | 4440 | 52 | 3 | 9 | 28 | 3 | 8 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0002c0020 | 0/0 | 4440 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0002c0021 | 0/0 | 4440 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0002c0023 | 0/0 | 4440 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0003c0007 | 0/0 | 4440 | 4 | 0 | 0 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0004c0026 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0004c0027 | 0/0 | 4440 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0005c0009 | 0/0 | 4440 | 2 | 2 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0006c0016 | 0/0 | 4440 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0007c0013 | 0/0 | 4440 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0008c0010 | 0/0 | 4440 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0009c0012 | 0/0 | 4440 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0010c0025 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0011c0028 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0012c0024 | 0/0 | 4440 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0013c0015 | 0/0 | 4440 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0014c0014 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0015c0018 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0016c0022 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 | ||
a0017c0011 | 0/0 | 4440 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | ATGCA others(4435): Show |
chr7 | 117475025 | 117673665 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 6070 | 4 | 1 | 0 | 3 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0002 | 0/0 | 6069 | 44 | 16 | 3 | 19 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0004 | 0/0 | 6069 | 9 | 9 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0005 | 0/0 | 6069 | 5 | 0 | 1 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0007 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0009 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0001t0011 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0003t0003 | 0/0 | 6069 | 22 | 7 | 7 | 2 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0004t0001 | 0/1 | 6070 | 7 | 2 | 2 | 0 | 2 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0001c0004t0002 | 0/0 | 6069 | 14 | 11 | 3 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0004t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0005t0003 | 0/0 | 6069 | 6 | 6 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0005t0006 | 0/0 | 6069 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0006t0003 | 0/0 | 6069 | 4 | 3 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0006t0006 | 0/0 | 6069 | 3 | 3 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0008t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0008t0010 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0001c0017t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0001c0019t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0002c0002t0001 | 1/0 | 6070 | 48 | 3 | 8 | 26 | 2 | 8 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0002c0002t0002 | 0/0 | 6069 | 3 | 0 | 1 | 1 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0002c0002t0008 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0002c0020t0002 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0002c0021t0001 | 0/0 | 6070 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0002c0023t0006 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0003c0007t0001 | 0/0 | 6070 | 4 | 0 | 0 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0004c0026t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0004c0027t0001 | 0/0 | 6070 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0005c0009t0001 | 0/0 | 6070 | 2 | 2 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0006c0016t0002 | 0/0 | 6069 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0007c0013t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0008c0010t0001 | 0/0 | 6070 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0009c0012t0002 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0010c0025t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0011c0028t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0012c0024t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0013c0015t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0014c0014t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0015c0018t0005 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6064): Show |
chr7 | 117475025 | 117673665 |
a0016c0022t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
a0017c0011t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | GTAGT others(6065): Show |
chr7 | 117475025 | 117673665 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0002g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0004g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0005g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0005g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0005g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0005g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0007g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0009g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0001t0011g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0003t0003g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0012 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0004t0003g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0003g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0005t0006g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0003g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0003g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0003g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0006t0006g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0008t0003g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0008t0010g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0017t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0001c0019t0003g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0082 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0002g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0002t0008g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0020t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0021t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0002c0023t0006g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0003c0007t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0003c0007t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0003c0007t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0003c0007t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0004c0026t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0004c0027t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0005c0009t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0005c0009t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0006c0016t0002g0201 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0007c0013t0003g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0008c0010t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0009c0012t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0010c0025t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0011c0028t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0012c0024t0003g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0013c0015t0003g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0014c0014t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0015c0018t0005g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0016c0022t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
a0017c0011t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0002 | g0034 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00099 | hp2 | a0002 | c0002 | t0001 | g0110 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00140 | hp1 | a0006 | c0016 | t0002 | g0201 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00140 | hp2 | a0002 | c0002 | t0001 | g0086 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00323 | hp1 | a0001 | c0003 | t0003 | g0116 | EUR | FIN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00323 | hp2 | a0004 | c0027 | t0001 | g0061 | EUR | FIN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00609 | hp1 | a0003 | c0007 | t0001 | g0168 | EAS | CHS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00609 | hp2 | a0001 | c0001 | t0002 | g0057 | EAS | CHS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00642 | hp1 | a0001 | c0001 | t0005 | g0047 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG00642 | hp2 | a0001 | c0003 | t0003 | g0144 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01070 | hp1 | a0001 | c0003 | t0003 | g0181 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01070 | hp2 | a0002 | c0002 | t0001 | g0083 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01071 | hp1 | a0001 | c0003 | t0003 | g0180 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01071 | hp2 | a0001 | c0004 | t0001 | g0006 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01074 | hp1 | a0001 | c0004 | t0002 | g0137 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01074 | hp2 | a0001 | c0004 | t0001 | g0007 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01175 | hp1 | a0001 | c0008 | t0010 | g0133 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01175 | hp2 | a0002 | c0002 | t0001 | g0200 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01192 | hp1 | a0002 | c0002 | t0001 | g0111 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01192 | hp2 | a0001 | c0004 | t0002 | g0186 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01243 | hp1 | a0001 | c0003 | t0003 | g0155 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01243 | hp2 | a0001 | c0001 | t0002 | g0176 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01257 | hp1 | a0001 | c0003 | t0003 | g0001 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01257 | hp2 | a0008 | c0010 | t0001 | g0170 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01258 | hp1 | a0001 | c0003 | t0003 | g0001 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01258 | hp2 | a0002 | c0002 | t0002 | g0146 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01346 | hp1 | a0002 | c0023 | t0006 | g0173 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01346 | hp2 | a0001 | c0003 | t0003 | g0185 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01433 | hp1 | a0001 | c0004 | t0002 | g0128 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01433 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01496 | hp1 | a0001 | c0004 | t0003 | g0191 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01496 | hp2 | a0002 | c0002 | t0001 | g0102 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01516 | hp1 | a0002 | c0021 | t0001 | g0165 | EUR | IBS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01516 | hp2 | a0001 | c0004 | t0001 | g0011 | EUR | IBS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01891 | hp1 | a0001 | c0001 | t0002 | g0078 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01891 | hp2 | a0001 | c0004 | t0002 | g0002 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01943 | hp1 | a0002 | c0002 | t0001 | g0093 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01943 | hp2 | a0001 | c0008 | t0003 | g0139 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01993 | hp1 | a0009 | c0012 | t0002 | g0033 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01993 | hp2 | a0002 | c0002 | t0001 | g0090 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02027 | hp1 | a0002 | c0002 | t0001 | g0169 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02027 | hp2 | a0001 | c0001 | t0002 | g0045 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02040 | hp1 | a0002 | c0002 | t0001 | g0098 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02040 | hp2 | a0001 | c0003 | t0003 | g0021 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02056 | hp1 | a0010 | c0025 | t0001 | g0172 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0068 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02080 | hp1 | a0002 | c0002 | t0001 | g0105 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02080 | hp2 | a0001 | c0001 | t0002 | g0030 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02129 | hp1 | a0002 | c0002 | t0001 | g0104 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02129 | hp2 | a0001 | c0001 | t0002 | g0036 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02132 | hp1 | a0001 | c0001 | t0005 | g0025 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02132 | hp2 | a0002 | c0002 | t0001 | g0103 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02145 | hp1 | a0001 | c0003 | t0003 | g0183 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02145 | hp2 | a0001 | c0005 | t0003 | g0194 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02148 | hp1 | a0001 | c0001 | t0002 | g0054 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02148 | hp2 | a0002 | c0002 | t0001 | g0092 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02165 | hp1 | a0002 | c0002 | t0001 | g0073 | EAS | CDX | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02165 | hp2 | a0001 | c0001 | t0002 | g0055 | EAS | CDX | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02257 | hp1 | a0001 | c0004 | t0002 | g0115 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02257 | hp2 | a0002 | c0002 | t0001 | g0160 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02258 | hp1 | a0001 | c0019 | t0003 | g0192 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02258 | hp2 | a0001 | c0001 | t0002 | g0119 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02280 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02280 | hp2 | a0001 | c0006 | t0003 | g0142 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02451 | hp1 | a0001 | c0003 | t0003 | g0190 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02451 | hp2 | a0001 | c0001 | t0002 | g0120 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02523 | hp1 | a0011 | c0028 | t0002 | g0031 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02523 | hp2 | a0002 | c0002 | t0001 | g0080 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02630 | hp1 | a0002 | c0020 | t0002 | g0079 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02630 | hp2 | a0001 | c0004 | t0002 | g0008 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02647 | hp1 | a0001 | c0004 | t0002 | g0131 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02647 | hp2 | a0001 | c0003 | t0003 | g0141 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02683 | hp1 | a0001 | c0003 | t0003 | g0134 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02683 | hp2 | a0001 | c0006 | t0003 | g0015 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02723 | hp1 | a0001 | c0003 | t0003 | g0114 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02723 | hp2 | a0001 | c0001 | t0004 | g0118 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02738 | hp1 | a0001 | c0003 | t0003 | g0184 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02738 | hp2 | a0002 | c0002 | t0001 | g0158 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02809 | hp1 | a0001 | c0003 | t0003 | g0187 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02809 | hp2 | a0001 | c0001 | t0002 | g0177 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02818 | hp1 | a0001 | c0003 | t0003 | g0113 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02818 | hp2 | a0012 | c0024 | t0003 | g0148 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02886 | hp1 | a0001 | c0001 | t0002 | g0117 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02886 | hp2 | a0001 | c0005 | t0003 | g0150 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02895 | hp1 | a0001 | c0006 | t0003 | g0198 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02895 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02896 | hp1 | a0001 | c0004 | t0002 | g0132 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02896 | hp2 | a0001 | c0001 | t0002 | g0077 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02922 | hp1 | a0001 | c0001 | t0004 | g0138 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02922 | hp2 | a0001 | c0001 | t0002 | g0122 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02965 | hp1 | a0005 | c0009 | t0001 | g0153 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02965 | hp2 | a0001 | c0001 | t0011 | g0049 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02970 | hp1 | a0001 | c0004 | t0002 | g0125 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02970 | hp2 | a0001 | c0006 | t0006 | g0013 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03017 | hp1 | a0001 | c0003 | t0003 | g0026 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03017 | hp2 | a0001 | c0001 | t0002 | g0151 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03041 | hp1 | a0001 | c0005 | t0003 | g0196 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03041 | hp2 | a0001 | c0003 | t0003 | g0178 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03098 | hp1 | a0001 | c0001 | t0002 | g0062 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03098 | hp2 | a0001 | c0005 | t0003 | g0156 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03130 | hp1 | a0001 | c0004 | t0002 | g0140 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03130 | hp2 | a0001 | c0001 | t0004 | g0018 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03139 | hp1 | a0001 | c0001 | t0002 | g0063 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03139 | hp2 | a0001 | c0001 | t0002 | g0179 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03209 | hp1 | a0001 | c0005 | t0003 | g0197 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03209 | hp2 | a0001 | c0001 | t0004 | g0182 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03225 | hp1 | a0001 | c0001 | t0004 | g0126 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03225 | hp2 | a0001 | c0004 | t0002 | g0016 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03239 | hp1 | a0001 | c0001 | t0002 | g0032 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03239 | hp2 | a0002 | c0002 | t0001 | g0108 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03654 | hp1 | a0002 | c0002 | t0001 | g0089 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03654 | hp2 | a0001 | c0005 | t0006 | g0038 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03669 | hp1 | a0002 | c0002 | t0001 | g0109 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03669 | hp2 | a0001 | c0001 | t0002 | g0035 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03688 | hp1 | a0002 | c0002 | t0001 | g0171 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG03688 | hp2 | a0001 | c0001 | t0002 | g0058 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04184 | hp1 | a0001 | c0003 | t0003 | g0145 | SAS | BEB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04184 | hp2 | a0002 | c0002 | t0001 | g0159 | SAS | BEB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04199 | hp1 | a0002 | c0002 | t0001 | g0152 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04199 | hp2 | a0001 | c0001 | t0002 | g0199 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04204 | hp1 | a0002 | c0002 | t0001 | g0084 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG04204 | hp2 | a0001 | c0003 | t0003 | g0048 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18906 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18906 | hp2 | a0001 | c0001 | t0002 | g0195 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18947 | hp1 | a0003 | c0007 | t0001 | g0167 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18947 | hp2 | a0001 | c0001 | t0002 | g0051 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18954 | hp1 | a0001 | c0001 | t0009 | g0052 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18954 | hp2 | a0002 | c0002 | t0001 | g0174 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18960 | hp1 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18960 | hp2 | a0002 | c0002 | t0001 | g0081 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18966 | hp1 | a0002 | c0002 | t0001 | g0164 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18966 | hp2 | a0001 | c0003 | t0003 | g0040 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18968 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18968 | hp2 | a0002 | c0002 | t0001 | g0157 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18970 | hp1 | a0002 | c0002 | t0001 | g0099 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18970 | hp2 | a0001 | c0001 | t0002 | g0050 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18978 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18978 | hp2 | a0002 | c0002 | t0001 | g0107 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18982 | hp1 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18982 | hp2 | a0002 | c0002 | t0001 | g0101 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18988 | hp1 | a0001 | c0001 | t0002 | g0024 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18988 | hp2 | a0002 | c0002 | t0001 | g0069 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18990 | hp1 | a0002 | c0002 | t0001 | g0041 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18990 | hp2 | a0014 | c0014 | t0002 | g0027 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18992 | hp1 | a0003 | c0007 | t0001 | g0100 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18992 | hp2 | a0015 | c0018 | t0005 | g0028 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18993 | hp1 | a0016 | c0022 | t0001 | g0091 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA18993 | hp2 | a0001 | c0001 | t0002 | g0071 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19010 | hp1 | a0001 | c0001 | t0002 | g0042 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19010 | hp2 | a0002 | c0002 | t0001 | g0097 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19011 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19011 | hp2 | a0002 | c0002 | t0001 | g0161 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19030 | hp1 | a0001 | c0005 | t0003 | g0149 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19030 | hp2 | a0001 | c0006 | t0006 | g0005 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19043 | hp1 | a0001 | c0001 | t0004 | g0072 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19043 | hp2 | a0001 | c0004 | t0002 | g0130 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19060 | hp1 | a0002 | c0002 | t0001 | g0096 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19060 | hp2 | a0001 | c0001 | t0002 | g0044 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19062 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19062 | hp2 | a0002 | c0002 | t0001 | g0175 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19065 | hp1 | a0002 | c0002 | t0001 | g0189 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19065 | hp2 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19066 | hp2 | a0002 | c0002 | t0001 | g0163 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19070 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19070 | hp2 | a0003 | c0007 | t0001 | g0166 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19072 | hp1 | a0001 | c0017 | t0001 | g0064 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19072 | hp2 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19085 | hp1 | a0001 | c0001 | t0005 | g0066 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19085 | hp2 | a0002 | c0002 | t0001 | g0188 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19086 | hp1 | a0004 | c0026 | t0002 | g0037 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19086 | hp2 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19087 | hp1 | a0002 | c0002 | t0008 | g0162 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19089 | hp1 | a0002 | c0002 | t0001 | g0106 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19089 | hp2 | a0001 | c0001 | t0005 | g0019 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19090 | hp1 | a0017 | c0011 | t0001 | g0112 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19090 | hp2 | a0001 | c0001 | t0007 | g0060 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19091 | hp1 | a0001 | c0001 | t0005 | g0059 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19091 | hp2 | a0002 | c0002 | t0001 | g0095 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19240 | hp1 | a0001 | c0006 | t0006 | g0014 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA19240 | hp2 | a0001 | c0004 | t0002 | g0124 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20129 | hp1 | a0001 | c0004 | t0001 | g0143 | AFR | ASW | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20129 | hp2 | a0001 | c0001 | t0004 | g0127 | AFR | ASW | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20805 | hp1 | a0002 | c0002 | t0002 | g0147 | EUR | TSI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20805 | hp2 | a0001 | c0004 | t0001 | g0010 | EUR | TSI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01123 | hp1 | a0007 | c0013 | t0003 | g0136 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG01123 | hp2 | a0002 | c0002 | t0001 | g0094 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02109 | hp1 | a0001 | c0004 | t0001 | g0017 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02109 | hp2 | a0001 | c0001 | t0002 | g0123 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02486 | hp1 | a0005 | c0009 | t0001 | g0154 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02486 | hp2 | a0001 | c0001 | t0002 | g0121 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02559 | hp1 | a0001 | c0006 | t0003 | g0193 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG02559 | hp2 | a0002 | c0002 | t0001 | g0087 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG06807 | hp1 | a0001 | c0001 | t0004 | g0135 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
HG06807 | hp2 | a0013 | c0015 | t0003 | g0074 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA20300 | hp2 | a0001 | c0001 | t0002 | g0076 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA21309 | hp1 | a0001 | c0004 | t0002 | g0129 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
NA21309 | hp2 | a0002 | c0002 | t0001 | g0085 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
homoSapiens | chm13v2 | a0001 | c0004 | t0001 | g0012 | REF | REF | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
homoSapiens | grch38p0 | a0002 | c0002 | t0001 | g0082 | REF | REF | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:117509089 | C | T | 1 | a0005 | 2 | HG02486.hp1 HG02965.hp1 |
missense_variant | MODERATE | c.220C>T | p.Arg74Trp | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/27 | 290/6070 | 220/4443 | 74/1480 | chr7 | 117509089 | |||
chr7:117509093 | G | A | 1 | a0008 | 1 | HG01257.hp2 | missense_variant | MODERATE | c.224G>A | p.Arg75Gln | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/27 | 294/6070 | 224/4443 | 75/1480 | chr7 | 117509093 | |||
chr7:117530999 | T | C | 1 | a0017 | 1 | NA19090.hp1 | missense_variant | MODERATE | c.374T>C | p.Ile125Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/27 | 444/6070 | 374/4443 | 125/1480 | chr7 | 117530999 | |||
chr7:117531043 | C | T | 1 | a0011 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.418C>T | p.Pro140Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/27 | 488/6070 | 418/4443 | 140/1480 | chr7 | 117531043 | |||
chr7:117535318 | A | G | 1 | a0004 | 2 | HG00323.hp2 NA19086.hp1 |
missense_variant | MODERATE | c.650A>G | p.Glu217Gly | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 720/6070 | 650/4443 | 217/1480 | chr7 | 117535318 | |||
chr7:117535375 | T | C | 1 | a0009 | 1 | HG01993.hp1 | missense_variant | MODERATE | c.707T>C | p.Phe236Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 777/6070 | 707/4443 | 236/1480 | chr7 | 117535375 | |||
chr7:117535398 | A | G | 1 | a0010 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.730A>G | p.Met244Val | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 800/6070 | 730/4443 | 244/1480 | chr7 | 117535398 | |||
chr7:117540282 | C | G | 1 | a0012 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.1052C>G | p.Thr351Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/27 | 1122/6070 | 1052/4443 | 351/1480 | chr7 | 117540282 | |||
chr7:117542047 | T | C | 1 | a0007 | 1 | HG01123.hp1 | missense_variant | MODERATE | c.1148T>C | p.Leu383Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/27 | 1218/6070 | 1148/4443 | 383/1480 | chr7 | 117542047 | |||
chr7:117559479 | G | A | 10 | a0001 a0004 a0006 others(7): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
missense_variant | MODERATE | c.1408G>A | p.Val470Met | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1478/6070 | 1408/4443 | 470/1480 | chr7 | 117559479 | |||
chr7:117559559 | G | C | 1 | a0014 | 1 | NA18990.hp2 | missense_variant | MODERATE | c.1488G>C | p.Trp496Cys | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1558/6070 | 1488/4443 | 496/1480 | chr7 | 117559559 | |||
chr7:117587820 | A | G | 1 | a0003 | 4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
missense_variant | MODERATE | c.1666A>G | p.Ile556Val | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/27 | 1736/6070 | 1666/4443 | 556/1480 | chr7 | 117587820 | |||
chr7:117590400 | G | C | 1 | a0013 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.1727G>C | p.Gly576Ala | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/27 | 1797/6070 | 1727/4443 | 576/1480 | chr7 | 117590400 | |||
chr7:117592169 | C | T | 1 | a0013 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.2002C>T | p.Arg668Cys | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/27 | 2072/6070 | 2002/4443 | 668/1480 | chr7 | 117592169 | |||
chr7:117627712 | C | T | 1 | a0015 | 1 | NA18992.hp2 | missense_variant | MODERATE | c.3659C>T | p.Thr1220Ile | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/27 | 3729/6070 | 3659/4443 | 1220/1480 | chr7 | 117627712 | |||
chr7:117627758 | T | G | 1 | a0006 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.3705T>G | p.Ser1235Arg | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/27 | 3775/6070 | 3705/4443 | 1235/1480 | chr7 | 117627758 | |||
chr7:117642528 | G | A | 1 | a0005 | 2 | HG02486.hp1 HG02965.hp1 |
missense_variant | MODERATE | c.3808G>A | p.Asp1270Asn | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3878/6070 | 3808/4443 | 1270/1480 | chr7 | 117642528 | |||
chr7:117667022 | C | T | 1 | a0016 | 1 | NA18993.hp1 | missense_variant | MODERATE | c.4357C>T | p.Arg1453Trp | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 4427/6070 | 4357/4443 | 1453/1480 | chr7 | 117667022 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:117559652 | A | G | 1 | a0001c0019 | 1 | HG02258.hp1 | synonymous_variant | LOW | c.1581A>G | p.Glu527Glu | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1651/6070 | 1581/4443 | 527/1480 | chr7 | 117559652 | |||
chr7:117559655 | G | A | 1 | a0001c0008 | 2 | HG01175.hp1 HG01943.hp2 |
splice_region_variant&synonymous_variant | LOW | c.1584G>A | p.Glu528Glu | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1654/6070 | 1584/4443 | 528/1480 | chr7 | 117559655 | |||
chr7:117595001 | T | G | 15 | a0001c0001 a0001c0003 a0001c0005 others(12): Show |
107 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(104): Show |
synonymous_variant | LOW | c.2562T>G | p.Thr854Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/27 | 2632/6070 | 2562/4443 | 854/1480 | chr7 | 117595001 | |||
chr7:117603772 | G | A | 1 | a0002c0021 | 1 | HG01516.hp1 | synonymous_variant | LOW | c.2898G>A | p.Thr966Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/27 | 2968/6070 | 2898/4443 | 966/1480 | chr7 | 117603772 | |||
chr7:117642443 | C | A | 1 | a0001c0017 | 1 | NA19072.hp1 | synonymous_variant | LOW | c.3723C>A | p.Gly1241Gly | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3793/6070 | 3723/4443 | 1241/1480 | chr7 | 117642443 | |||
chr7:117642590 | A | G | 5 | a0001c0005 a0001c0006 a0001c0019 others(2): Show |
17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
synonymous_variant | LOW | c.3870A>G | p.Pro1290Pro | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3940/6070 | 3870/4443 | 1290/1480 | chr7 | 117642590 | |||
chr7:117667054 | G | A | 9 | a0001c0003 a0001c0005 a0001c0006 others(6): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
synonymous_variant | LOW | c.4389G>A | p.Gln1463Gln | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 4459/6070 | 4389/4443 | 1463/1480 | chr7 | 117667054 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:117480087 | G | C | 3 | a0001c0001t0005 a0001c0001t0007 a0015c0018t0005 |
7 | HG00642.hp1 HG02132.hp1 NA18992.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-8G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/27 | 8 | chr7 | 117480087 | ||||||
chr7:117667181 | T | C | 1 | a0002c0002t0008 | 1 | NA19087.hp1 | 3_prime_UTR_variant | MODIFIER | c.*73T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 73 | chr7 | 117667181 | ||||||
chr7:117667202 | C | T | 1 | a0001c0001t0011 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*94C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 94 | chr7 | 117667202 | ||||||
chr7:117667232 | GT | G | 27 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(24): Show |
128 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(125): Show |
3_prime_UTR_variant | MODIFIER | c.*133delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 133 | INFO_REALIGN_3_PRIME | chr7 | 117667232 | |||||
chr7:117667433 | A | G | 1 | a0001c0001t0004 | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*325A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 325 | chr7 | 117667433 | ||||||
chr7:117668151 | A | C | 3 | a0001c0005t0006 a0001c0006t0006 a0002c0023t0006 |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1043A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1043 | chr7 | 117668151 | ||||||
chr7:117668195 | T | C | 1 | a0001c0001t0009 | 1 | NA18954.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1087T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1087 | chr7 | 117668195 | ||||||
chr7:117668197 | T | C | 1 | a0001c0008t0010 | 1 | HG01175.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1089T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1089 | chr7 | 117668197 | ||||||
chr7:117668359 | C | T | 13 | a0001c0003t0003 a0001c0004t0003 a0001c0005t0003 others(10): Show |
44 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*1251C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1251 | chr7 | 117668359 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:117480471 | A | G | 1 | a0006c0016t0002g0201 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.53+324A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117480471 | |||||||
chr7:117481280 | C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.53+1133C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117481280 | |||||||
chr7:117482181 | A | C | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.53+2034A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482181 | |||||||
chr7:117482400 | T | G | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.53+2253T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482400 | |||||||
chr7:117482806 | A | T | 1 | a0001c0001t0002g0199 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.53+2659A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482806 | |||||||
chr7:117482811 | G | A | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.53+2664G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482811 | |||||||
chr7:117482847 | C | T | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.53+2700C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482847 | |||||||
chr7:117483071 | C | T | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+2924C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483071 | |||||||
chr7:117483351 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.53+3204C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483351 | |||||||
chr7:117483734 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+3587C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483734 | |||||||
chr7:117483747 | T | A | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+3600T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483747 | |||||||
chr7:117484100 | G | C | 1 | a0001c0001t0004g0018 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.53+3953G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484100 | |||||||
chr7:117484158 | C | T | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+4011C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484158 | |||||||
chr7:117484616 | A | G | 2 | a0001c0006t0003g0193 a0001c0019t0003g0192 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.53+4469A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484616 | |||||||
chr7:117484806 | T | G | 1 | a0001c0001t0005g0019 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.53+4659T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484806 | |||||||
chr7:117485018 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+4871C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485018 | |||||||
chr7:117485152 | T | G | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.53+5005T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485152 | |||||||
chr7:117485232 | G | A | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.53+5085G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485232 | |||||||
chr7:117485386 | A | C | 1 | a0001c0003t0003g0190 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.53+5239A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485386 | |||||||
chr7:117485474 | C | T | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.53+5327C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485474 | |||||||
chr7:117485555 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+5408G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485555 | |||||||
chr7:117485557 | G | A | 1 | a0001c0001t0002g0199 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.53+5410G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485557 | |||||||
chr7:117485762 | A | T | 2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.53+5615A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485762 | |||||||
chr7:117485883 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+5736G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485883 | |||||||
chr7:117486337 | C | T | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+6190C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486337 | |||||||
chr7:117486347 | G | A | 55 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(52): Show |
55 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(52): Show |
intron_variant | MODIFIER | c.53+6200G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486347 | |||||||
chr7:117486462 | G | A | 1 | a0001c0001t0004g0072 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.53+6315G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486462 | |||||||
chr7:117486781 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+6634T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486781 | |||||||
chr7:117486879 | T | TG | 68 | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 others(65): Show |
68 | HG00140.hp1 HG00323.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.53+6739dupG | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486879 | ||||||
chr7:117486896 | G | GGA | 4 | a0001c0005t0003g0156 a0001c0005t0003g0196 a0001c0005t0003g0197 others(1): Show |
4 | HG02165.hp1 HG03041.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+6770_53+6771dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486896 | ||||||
chr7:117486896 | G | GGAGA | 55 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(52): Show |
55 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(52): Show |
intron_variant | MODIFIER | c.53+6768_53+6771dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486896 | ||||||
chr7:117486989 | G | A | 1 | a0013c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.53+6842G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486989 | |||||||
chr7:117487073 | C | T | 2 | a0005c0009t0001g0153 a0005c0009t0001g0154 |
2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.53+6926C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487073 | |||||||
chr7:117487186 | T | G | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.53+7039T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487186 | |||||||
chr7:117487671 | C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.53+7524C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487671 | |||||||
chr7:117487685 | A | C | 74 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show |
74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.53+7538A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487685 | |||||||
chr7:117487892 | T | C | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+7745T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487892 | |||||||
chr7:117487902 | G | A | 4 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(1): Show |
4 | HG01891.hp1 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+7755G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487902 | |||||||
chr7:117487998 | C | T | 2 | a0002c0002t0002g0146 a0002c0002t0002g0147 |
2 | HG01258.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.53+7851C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487998 | |||||||
chr7:117488311 | CT | C | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+8167delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117488311 | ||||||
chr7:117488449 | A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+8302A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488449 | |||||||
chr7:117488492 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+8345T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488492 | |||||||
chr7:117488535 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+8388C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488535 | |||||||
chr7:117488888 | A | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.53+8741A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488888 | |||||||
chr7:117488997 | T | A | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.53+8850T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488997 | |||||||
chr7:117489285 | G | A | 2 | a0001c0003t0003g0113 a0001c0003t0003g0114 |
2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.53+9138G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489285 | |||||||
chr7:117489316 | A | G | 1 | a0001c0003t0003g0040 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.53+9169A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489316 | |||||||
chr7:117489350 | T | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.53+9203T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489350 | |||||||
chr7:117489437 | A | G | 60 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(57): Show |
61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.53+9290A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489437 | |||||||
chr7:117489505 | G | A | 4 | a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0003t0003g0116 others(1): Show |
4 | HG00323.hp1 HG01243.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+9358G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489505 | |||||||
chr7:117489990 | C | T | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.53+9843C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489990 | |||||||
chr7:117490088 | A | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+9941A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490088 | |||||||
chr7:117490091 | T | C | 3 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0178 |
3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.53+9944T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490091 | |||||||
chr7:117490312 | T | TAC | 56 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(53): Show |
56 | HG00140.hp2 HG00609.hp1 HG01123.hp2 others(53): Show |
intron_variant | MODIFIER | c.53+10207_53+10208d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACAC | 40 | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0003 others(37): Show |
40 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(37): Show |
intron_variant | MODIFIER | c.53+10205_53+10208d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACACAC | 18 | a0001c0001t0001g0039 a0001c0001t0002g0063 a0001c0001t0002g0065 others(15): Show |
18 | HG01192.hp1 HG01346.hp1 HG02056.hp1 others(15): Show |
intron_variant | MODIFIER | c.53+10203_53+10208d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACACACA others(1): Show |
2 | a0001c0001t0002g0067 a0001c0001t0005g0066 |
2 | NA19070.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.53+10201_53+10208d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACACACA others(3): Show |
4 | a0001c0001t0001g0068 a0001c0003t0003g0144 a0001c0003t0003g0145 others(1): Show |
4 | HG00140.hp1 HG00642.hp2 HG02056.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+10199_53+10208d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACACACA others(9): Show |
2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.53+10193_53+10208d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | T | TACACACA others(11): Show |
1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.53+10191_53+10208d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | TAC | T | 13 | a0001c0001t0002g0177 a0001c0001t0004g0018 a0001c0001t0004g0126 others(10): Show |
13 | HG02523.hp2 HG02630.hp1 HG02809.hp2 others(10): Show |
intron_variant | MODIFIER | c.53+10207_53+10208d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | TACAC | T | 5 | a0001c0001t0002g0123 a0001c0003t0003g0180 a0001c0003t0003g0181 others(2): Show |
5 | HG01070.hp1 HG01071.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.53+10205_53+10208d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | TACACAC | T | 16 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(13): Show |
16 | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.53+10203_53+10208d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | TACACACA others(1): Show |
T | 4 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(1): Show |
4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+10201_53+10208d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490312 | TACACACA others(3): Show |
T | 5 | a0001c0001t0002g0195 a0001c0004t0002g0002 a0001c0005t0003g0194 others(2): Show |
5 | HG01891.hp2 HG02145.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.53+10199_53+10208d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | ||||||
chr7:117490473 | AGTCT | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+10329_53+10332d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490473 | ||||||
chr7:117490589 | G | C | 69 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(66): Show |
69 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.53+10442G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490589 | |||||||
chr7:117490627 | C | T | 1 | a0001c0008t0003g0139 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.53+10480C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490627 | |||||||
chr7:117490701 | C | G | 1 | a0008c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.53+10554C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490701 | |||||||
chr7:117490741 | T | C | 2 | a0001c0003t0003g0021 a0001c0003t0003g0040 |
2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.53+10594T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490741 | |||||||
chr7:117490861 | C | T | 4 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(1): Show |
4 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+10714C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490861 | |||||||
chr7:117491130 | C | T | 17 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 others(14): Show |
17 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.53+10983C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491130 | |||||||
chr7:117491462 | T | C | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.53+11315T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491462 | |||||||
chr7:117491638 | A | G | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.53+11491A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491638 | |||||||
chr7:117491924 | G | A | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.53+11777G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491924 | |||||||
chr7:117492039 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+11892G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492039 | |||||||
chr7:117492044 | T | A | 69 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(66): Show |
69 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.53+11897T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492044 | |||||||
chr7:117492125 | A | G | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.53+11978A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492125 | |||||||
chr7:117492167 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+12020G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492167 | |||||||
chr7:117492275 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-11978A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492275 | |||||||
chr7:117492361 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-11892T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492361 | |||||||
chr7:117492466 | T | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-11787T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492466 | |||||||
chr7:117492736 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-11517C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492736 | |||||||
chr7:117492865 | A | G | 26 | a0001c0001t0004g0135 a0001c0001t0004g0138 a0001c0003t0003g0001 others(23): Show |
27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.54-11388A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492865 | |||||||
chr7:117493331 | C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-10922C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493331 | |||||||
chr7:117493359 | G | GA | 9 | a0001c0003t0003g0141 a0001c0004t0002g0124 a0001c0004t0002g0125 others(6): Show |
9 | HG01433.hp1 HG02647.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.54-10886dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117493359 | ||||||
chr7:117493666 | T | C | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.54-10587T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493666 | |||||||
chr7:117493832 | G | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-10421G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493832 | |||||||
chr7:117494069 | C | A | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.54-10184C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494069 | |||||||
chr7:117494110 | A | G | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.54-10143A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494110 | |||||||
chr7:117494438 | TC | T | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.54-9813delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117494438 | ||||||
chr7:117494463 | C | G | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.54-9790C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494463 | |||||||
chr7:117494495 | A | G | 1 | a0014c0014t0002g0027 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.54-9758A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494495 | |||||||
chr7:117494580 | G | A | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.54-9673G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494580 | |||||||
chr7:117494666 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-9587C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494666 | |||||||
chr7:117494755 | C | A | 1 | a0002c0002t0001g0159 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.54-9498C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494755 | |||||||
chr7:117494971 | G | C | 69 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(66): Show |
69 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.54-9282G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494971 | |||||||
chr7:117495158 | C | T | 5 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(2): Show |
5 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.54-9095C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495158 | |||||||
chr7:117495182 | C | T | 1 | a0001c0003t0003g0026 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.54-9071C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495182 | |||||||
chr7:117495338 | C | A | 2 | a0001c0001t0002g0117 a0001c0001t0004g0118 |
2 | HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.54-8915C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495338 | |||||||
chr7:117495424 | T | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.54-8829T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495424 | |||||||
chr7:117495670 | A | C | 1 | a0001c0001t0002g0177 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.54-8583A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495670 | |||||||
chr7:117496005 | A | G | 3 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 |
3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.54-8248A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496005 | |||||||
chr7:117496029 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-8224T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496029 | |||||||
chr7:117496089 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-8164G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496089 | |||||||
chr7:117496156 | A | AT | 18 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0123 others(15): Show |
18 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.54-8089dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117496156 | ||||||
chr7:117496198 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-8055G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496198 | |||||||
chr7:117496664 | A | T | 10 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(7): Show |
10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.54-7589A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496664 | |||||||
chr7:117496692 | C | T | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-7561C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496692 | |||||||
chr7:117496804 | T | G | 74 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show |
74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.54-7449T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496804 | |||||||
chr7:117497346 | A | C | 74 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show |
74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.54-6907A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497346 | |||||||
chr7:117497428 | A | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.54-6825A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497428 | |||||||
chr7:117497447 | G | T | 2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.54-6806G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497447 | |||||||
chr7:117497716 | T | A | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.54-6537T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497716 | |||||||
chr7:117497809 | T | C | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.54-6444T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497809 | |||||||
chr7:117498085 | A | G | 1 | a0002c0002t0001g0108 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.54-6168A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498085 | |||||||
chr7:117498118 | C | T | 3 | a0001c0006t0003g0142 a0001c0006t0003g0193 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.54-6135C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498118 | |||||||
chr7:117498359 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-5894C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498359 | |||||||
chr7:117498688 | C | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-5565C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498688 | |||||||
chr7:117498768 | A | C | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.54-5485A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498768 | |||||||
chr7:117498769 | A | G | 6 | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(3): Show |
6 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.54-5484A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498769 | |||||||
chr7:117498893 | A | G | 74 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show |
74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.54-5360A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498893 | |||||||
chr7:117498956 | A | G | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.54-5297A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498956 | |||||||
chr7:117499186 | C | T | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.54-5067C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499186 | |||||||
chr7:117499225 | G | A | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.54-5028G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499225 | |||||||
chr7:117499429 | C | CTG | 10 | a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 others(7): Show |
10 | HG01071.hp2 HG01074.hp2 HG02523.hp2 others(7): Show |
intron_variant | MODIFIER | c.54-4792_54-4791dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTG | 7 | a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0199 others(4): Show |
7 | HG02965.hp2 HG03017.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.54-4794_54-4791dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTG | 51 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(48): Show |
51 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(48): Show |
intron_variant | MODIFIER | c.54-4796_54-4791dup others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(1): Show |
9 | a0001c0001t0004g0138 a0001c0003t0003g0021 a0001c0003t0003g0141 others(6): Show |
9 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.54-4798_54-4791dup others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(3): Show |
17 | a0001c0001t0002g0195 a0001c0001t0004g0018 a0001c0001t0004g0135 others(14): Show |
17 | HG00323.hp1 HG01123.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.54-4800_54-4791dup others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(5): Show |
17 | a0001c0001t0002g0004 a0001c0001t0002g0122 a0001c0001t0004g0072 others(14): Show |
17 | HG00642.hp2 HG01175.hp1 HG01943.hp2 others(14): Show |
intron_variant | MODIFIER | c.54-4802_54-4791dup others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(7): Show |
17 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(14): Show |
18 | HG01257.hp1 HG01258.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.54-4804_54-4791dup others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(9): Show |
3 | a0001c0001t0002g0117 a0001c0001t0002g0176 a0013c0015t0003g0074 |
3 | HG01243.hp2 HG02886.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.54-4806_54-4791dup others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(11): Show |
1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.54-4808_54-4791dup others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499429 | C | CTGTGTGT others(13): Show |
1 | a0001c0001t0002g0177 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.54-4810_54-4791dup others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | ||||||
chr7:117499462 | T | TG | 2 | a0002c0002t0001g0111 a0002c0002t0001g0159 |
2 | HG01192.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.54-4791_54-4790ins others(1): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499462 | |||||||
chr7:117499462 | T | TGTGTGTG others(8): Show |
2 | a0001c0001t0002g0003 a0001c0004t0002g0128 |
2 | HG01433.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.54-4791_54-4790ins others(15): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499462 | |||||||
chr7:117499484 | C | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-4769C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499484 | |||||||
chr7:117499651 | G | C | 2 | a0002c0002t0001g0108 a0002c0002t0001g0171 |
2 | HG03239.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.54-4602G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499651 | |||||||
chr7:117500041 | C | T | 69 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(66): Show |
69 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.54-4212C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500041 | |||||||
chr7:117500134 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-4119C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500134 | |||||||
chr7:117500278 | C | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.54-3975C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500278 | |||||||
chr7:117500278 | C | CT | 15 | a0001c0001t0002g0121 a0001c0001t0004g0127 a0001c0003t0003g0141 others(12): Show |
15 | HG00609.hp1 HG01123.hp1 HG02027.hp1 others(12): Show |
intron_variant | MODIFIER | c.54-3950dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | ||||||
chr7:117500278 | CT | C | 53 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(50): Show |
53 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(50): Show |
intron_variant | MODIFIER | c.54-3950delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | ||||||
chr7:117500278 | CTTTTTTT others(7): Show |
C | 17 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 others(14): Show |
17 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.54-3963_54-3950del others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | ||||||
chr7:117500343 | A | C | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.54-3910A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500343 | |||||||
chr7:117500439 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-3814C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500439 | |||||||
chr7:117500441 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-3812C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500441 | |||||||
chr7:117500580 | G | A | 3 | a0002c0002t0001g0086 a0002c0002t0001g0110 a0002c0002t0001g0160 |
3 | HG00099.hp2 HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.54-3673G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500580 | |||||||
chr7:117500923 | G | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-3330G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500923 | |||||||
chr7:117501034 | C | A | 3 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0178 |
3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.54-3219C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501034 | |||||||
chr7:117501711 | C | T | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.54-2542C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501711 | |||||||
chr7:117501747 | C | CA | 11 | a0001c0003t0003g0144 a0001c0003t0003g0184 a0001c0004t0002g0131 others(8): Show |
11 | HG00642.hp2 HG01192.hp1 HG02080.hp1 others(8): Show |
intron_variant | MODIFIER | c.54-2482dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | ||||||
chr7:117501747 | CA | C | 48 | a0001c0001t0002g0022 a0001c0001t0002g0075 a0001c0001t0002g0076 others(45): Show |
48 | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.54-2482delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | ||||||
chr7:117501747 | CAA | C | 47 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(44): Show |
47 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(44): Show |
intron_variant | MODIFIER | c.54-2483_54-2482del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | ||||||
chr7:117501768 | A | G | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-2485A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501768 | |||||||
chr7:117501776 | CA | C | 7 | a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 others(4): Show |
7 | HG01496.hp2 HG02129.hp1 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.54-2461delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501776 | ||||||
chr7:117501780 | A | C | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.54-2473A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501780 | |||||||
chr7:117501781 | A | C | 37 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(34): Show |
38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.54-2472A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501781 | |||||||
chr7:117501786 | A | AC | 9 | a0001c0001t0002g0151 a0001c0001t0002g0195 a0001c0005t0003g0149 others(6): Show |
9 | HG02145.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.54-2467_54-2466ins others(1): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501786 | |||||||
chr7:117501786 | A | C | 92 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(89): Show |
92 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.54-2467A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501786 | |||||||
chr7:117501793 | C | A | 1 | a0002c0002t0001g0089 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.54-2460C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501793 | |||||||
chr7:117501799 | G | GCAAA | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-2445_54-2442dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501799 | ||||||
chr7:117501965 | C | T | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.54-2288C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501965 | |||||||
chr7:117501983 | T | C | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.54-2270T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501983 | |||||||
chr7:117501993 | T | C | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-2260T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501993 | |||||||
chr7:117502035 | T | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-2218T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502035 | |||||||
chr7:117502047 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-2206G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502047 | |||||||
chr7:117502230 | T | C | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.54-2023T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502230 | |||||||
chr7:117502422 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-1831G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502422 | |||||||
chr7:117502461 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-1792C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502461 | |||||||
chr7:117503376 | A | G | 3 | a0001c0003t0003g0187 a0001c0003t0003g0190 a0001c0004t0001g0143 |
3 | HG02451.hp1 HG02809.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.54-877A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503376 | |||||||
chr7:117503515 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-738A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503515 | |||||||
chr7:117503548 | C | G | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.54-705C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503548 | |||||||
chr7:117503664 | A | G | 9 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(6): Show |
9 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.54-589A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503664 | |||||||
chr7:117504014 | T | A | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.54-239T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117504014 | |||||||
chr7:117504076 | T | A | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.54-177T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117504076 | |||||||
chr7:117504391 | A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.164+28A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117504391 | |||||||
chr7:117504756 | T | TA | 40 | a0001c0001t0002g0050 a0001c0001t0002g0075 a0001c0001t0002g0076 others(37): Show |
40 | HG01243.hp2 HG01891.hp1 HG01993.hp2 others(37): Show |
intron_variant | MODIFIER | c.164+410dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | ||||||
chr7:117504756 | T | TAA | 27 | a0001c0003t0003g0001 a0001c0003t0003g0116 a0001c0003t0003g0134 others(24): Show |
28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.164+409_164+410dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | ||||||
chr7:117504756 | TA | T | 14 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(11): Show |
14 | HG01071.hp2 HG01074.hp2 HG01257.hp2 others(11): Show |
intron_variant | MODIFIER | c.164+410delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | ||||||
chr7:117504845 | C | T | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.164+482C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117504845 | |||||||
chr7:117505048 | T | C | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.164+685T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505048 | |||||||
chr7:117505311 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+948T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505311 | |||||||
chr7:117505325 | A | G | 1 | a0015c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.164+962A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505325 | |||||||
chr7:117505566 | C | T | 1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.164+1203C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505566 | |||||||
chr7:117505610 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+1247A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505610 | |||||||
chr7:117505646 | A | C | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.164+1283A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505646 | |||||||
chr7:117506114 | G | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.164+1751G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506114 | |||||||
chr7:117506337 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+1974C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506337 | |||||||
chr7:117506339 | T | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.164+1976T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506339 | |||||||
chr7:117506359 | G | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.164+1996G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506359 | |||||||
chr7:117506371 | C | T | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.164+2008C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506371 | |||||||
chr7:117506394 | T | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.164+2031T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506394 | |||||||
chr7:117506436 | G | A | 1 | a0001c0001t0004g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.164+2073G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506436 | |||||||
chr7:117506466 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+2103G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506466 | |||||||
chr7:117506482 | G | A | 2 | a0001c0001t0002g0023 a0014c0014t0002g0027 |
2 | NA18960.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.164+2119G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506482 | |||||||
chr7:117506511 | G | T | 2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.164+2148G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506511 | |||||||
chr7:117506790 | G | T | 18 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(15): Show |
18 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.165-2244G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506790 | |||||||
chr7:117506883 | G | C | 8 | a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 others(5): Show |
8 | HG01433.hp1 HG02647.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.165-2151G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506883 | |||||||
chr7:117507151 | T | C | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.165-1883T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507151 | |||||||
chr7:117507446 | C | G | 138 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(135): Show |
139 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(136): Show |
intron_variant | MODIFIER | c.165-1588C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507446 | |||||||
chr7:117507493 | C | T | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.165-1541C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507493 | |||||||
chr7:117507809 | T | A | 1 | a0002c0002t0001g0069 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.165-1225T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507809 | |||||||
chr7:117507895 | G | A | 2 | a0001c0003t0003g0113 a0001c0003t0003g0114 |
2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.165-1139G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507895 | |||||||
chr7:117508071 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.165-963G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508071 | |||||||
chr7:117508084 | T | G | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.165-950T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508084 | |||||||
chr7:117508342 | A | G | 3 | a0001c0006t0003g0142 a0001c0006t0003g0193 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.165-692A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508342 | |||||||
chr7:117509228 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+86T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509228 | |||||||
chr7:117509228 | T | G | 5 | a0001c0001t0004g0072 a0001c0001t0004g0126 a0001c0001t0004g0135 others(2): Show |
5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+86T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509228 | |||||||
chr7:117509357 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.273+215A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509357 | |||||||
chr7:117509531 | T | G | 1 | a0001c0001t0002g0029 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.273+389T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509531 | |||||||
chr7:117509897 | G | A | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.273+755G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509897 | |||||||
chr7:117509997 | G | A | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.273+855G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509997 | |||||||
chr7:117510021 | C | A | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.273+879C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510021 | |||||||
chr7:117510030 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+888A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510030 | |||||||
chr7:117510064 | G | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.273+922G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510064 | |||||||
chr7:117510075 | C | T | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.273+933C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510075 | |||||||
chr7:117510076 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+934C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510076 | |||||||
chr7:117510258 | C | T | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.273+1116C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510258 | |||||||
chr7:117510422 | A | T | 1 | a0001c0003t0003g0114 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.273+1280A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510422 | |||||||
chr7:117510454 | G | A | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.273+1312G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510454 | |||||||
chr7:117511162 | A | C | 6 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(3): Show |
6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.273+2020A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511162 | |||||||
chr7:117511652 | G | A | 1 | a0013c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.273+2510G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511652 | |||||||
chr7:117511706 | C | T | 1 | a0002c0002t0002g0088 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.273+2564C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511706 | |||||||
chr7:117511774 | A | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.273+2632A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511774 | |||||||
chr7:117511860 | G | C | 4 | a0002c0002t0001g0090 a0002c0002t0001g0111 a0002c0002t0001g0157 others(1): Show |
4 | HG01192.hp1 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+2718G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511860 | |||||||
chr7:117512097 | G | C | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.273+2955G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512097 | |||||||
chr7:117512249 | T | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+3107T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512249 | |||||||
chr7:117512355 | C | T | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+3213C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512355 | |||||||
chr7:117512621 | G | A | 51 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(48): Show |
51 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(48): Show |
intron_variant | MODIFIER | c.273+3479G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512621 | |||||||
chr7:117512633 | C | CA | 8 | a0001c0004t0002g0132 a0001c0006t0003g0198 a0002c0002t0001g0080 others(5): Show |
8 | HG01123.hp2 HG01943.hp1 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+3512dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | ||||||
chr7:117512633 | C | CAA | 6 | a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 others(3): Show |
6 | HG01433.hp1 HG02647.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+3511_273+3512d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | ||||||
chr7:117512633 | CA | C | 122 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(119): Show |
123 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.273+3512delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | ||||||
chr7:117513244 | G | A | 1 | a0001c0017t0001g0064 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.273+4102G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513244 | |||||||
chr7:117513311 | C | G | 3 | a0001c0004t0002g0137 a0001c0004t0002g0140 a0001c0004t0002g0186 |
3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.273+4169C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513311 | |||||||
chr7:117513437 | G | GA | 128 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(125): Show |
129 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.273+4309dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117513437 | ||||||
chr7:117513531 | G | A | 2 | a0001c0006t0006g0013 a0001c0006t0006g0014 |
2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.273+4389G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513531 | |||||||
chr7:117514105 | G | A | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.273+4963G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514105 | |||||||
chr7:117514171 | A | AT | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.273+5039dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117514171 | ||||||
chr7:117514383 | C | T | 1 | a0013c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.273+5241C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514383 | |||||||
chr7:117514550 | G | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.273+5408G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514550 | |||||||
chr7:117514666 | A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.273+5524A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514666 | |||||||
chr7:117514788 | G | A | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.273+5646G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514788 | |||||||
chr7:117514924 | T | G | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.273+5782T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514924 | |||||||
chr7:117514944 | A | C | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.273+5802A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514944 | |||||||
chr7:117514970 | G | T | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.273+5828G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514970 | |||||||
chr7:117515211 | G | A | 1 | a0002c0002t0001g0069 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.273+6069G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515211 | |||||||
chr7:117515596 | G | C | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+6454G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515596 | |||||||
chr7:117515600 | T | C | 1 | a0001c0001t0004g0018 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.273+6458T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515600 | |||||||
chr7:117515780 | G | A | 1 | a0012c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.273+6638G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515780 | |||||||
chr7:117515789 | A | G | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.273+6647A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515789 | |||||||
chr7:117516162 | G | A | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+7020G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516162 | |||||||
chr7:117516287 | T | C | 57 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(54): Show |
58 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.273+7145T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516287 | |||||||
chr7:117516385 | T | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+7243T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516385 | |||||||
chr7:117516547 | T | C | 1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.273+7405T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516547 | |||||||
chr7:117516608 | G | A | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.273+7466G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516608 | |||||||
chr7:117516755 | A | T | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.273+7613A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516755 | |||||||
chr7:117516869 | T | G | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.273+7727T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516869 | |||||||
chr7:117516892 | T | C | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.273+7750T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516892 | |||||||
chr7:117516935 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.273+7793C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516935 | |||||||
chr7:117517143 | G | A | 3 | a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0164 |
3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.273+8001G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517143 | |||||||
chr7:117517499 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+8357C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517499 | |||||||
chr7:117517705 | C | T | 2 | a0001c0004t0002g0137 a0001c0004t0002g0186 |
2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.273+8563C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517705 | |||||||
chr7:117517706 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.273+8564G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517706 | |||||||
chr7:117517753 | C | T | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.273+8611C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517753 | |||||||
chr7:117517774 | T | C | 31 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(28): Show |
31 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.273+8632T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517774 | |||||||
chr7:117517820 | T | C | 3 | a0001c0001t0004g0018 a0001c0001t0004g0127 a0001c0001t0004g0182 |
3 | HG03130.hp2 HG03209.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.273+8678T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517820 | |||||||
chr7:117517826 | C | CAT | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.273+8685_273+8686d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117517826 | ||||||
chr7:117518054 | AGTT | A | 12 | a0001c0003t0003g0116 a0001c0003t0003g0134 a0001c0003t0003g0155 others(9): Show |
12 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.273+8918_273+8920d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518054 | ||||||
chr7:117518161 | G | C | 17 | a0002c0002t0001g0041 a0002c0002t0001g0069 a0002c0002t0001g0070 others(14): Show |
17 | HG01192.hp1 HG01993.hp2 HG02040.hp1 others(14): Show |
intron_variant | MODIFIER | c.273+9019G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518161 | |||||||
chr7:117518331 | CAT | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+9192_273+9193d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518331 | ||||||
chr7:117518569 | C | CAT | 23 | a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 others(20): Show |
23 | HG01243.hp2 HG01433.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.273+9446_273+9447d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | ||||||
chr7:117518569 | C | CATAT | 7 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(4): Show |
7 | HG02258.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.273+9444_273+9447d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | ||||||
chr7:117518569 | C | CATATATA others(1): Show |
3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.273+9440_273+9447d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | ||||||
chr7:117518569 | C | CATATATA others(3): Show |
1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.273+9438_273+9447d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | ||||||
chr7:117518569 | CAT | C | 7 | a0001c0003t0003g0116 a0001c0003t0003g0134 a0001c0003t0003g0155 others(4): Show |
7 | HG00323.hp1 HG01123.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+9446_273+9447d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | ||||||
chr7:117518586 | A | ATG | 2 | a0001c0001t0002g0199 a0001c0005t0006g0038 |
2 | HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.273+9445_273+9446i others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518586 | ||||||
chr7:117518588 | A | ATG | 3 | a0001c0001t0004g0009 a0001c0005t0003g0156 a0001c0006t0003g0142 |
3 | HG02280.hp2 HG03098.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.273+9452_273+9453d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518588 | ||||||
chr7:117518588 | A | G | 97 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(94): Show |
98 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.273+9446A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518588 | |||||||
chr7:117518691 | G | A | 3 | a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0185 |
3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.273+9549G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518691 | |||||||
chr7:117519103 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+9961T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519103 | |||||||
chr7:117519434 | A | G | 1 | a0001c0001t0002g0045 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.273+10292A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519434 | |||||||
chr7:117519507 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+10365G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519507 | |||||||
chr7:117519602 | A | G | 26 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(23): Show |
26 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.273+10460A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519602 | |||||||
chr7:117519706 | C | G | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.273+10564C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519706 | |||||||
chr7:117519768 | A | G | 1 | a0002c0002t0001g0157 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.273+10626A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519768 | |||||||
chr7:117519956 | T | A | 1 | a0001c0001t0002g0122 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.273+10814T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519956 | |||||||
chr7:117520265 | G | GT | 10 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0030 others(7): Show |
10 | HG01074.hp1 HG01192.hp2 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.274-10617dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117520265 | ||||||
chr7:117520265 | GT | G | 5 | a0001c0001t0002g0120 a0001c0001t0002g0179 a0001c0001t0005g0059 others(2): Show |
5 | HG00642.hp2 HG02451.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.274-10617delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117520265 | ||||||
chr7:117520934 | A | G | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-9965A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117520934 | |||||||
chr7:117521599 | T | G | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.274-9300T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521599 | |||||||
chr7:117521805 | G | A | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.274-9094G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521805 | |||||||
chr7:117521990 | G | A | 1 | a0001c0003t0003g0113 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.274-8909G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521990 | |||||||
chr7:117522032 | T | A | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.274-8867T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522032 | |||||||
chr7:117522041 | T | A | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.274-8858T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522041 | |||||||
chr7:117522086 | T | C | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.274-8813T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522086 | |||||||
chr7:117522410 | G | A | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.274-8489G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522410 | |||||||
chr7:117522672 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-8227G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522672 | |||||||
chr7:117522900 | A | G | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.274-7999A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522900 | |||||||
chr7:117522979 | G | C | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.274-7920G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522979 | |||||||
chr7:117522993 | T | A | 34 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(31): Show |
35 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.274-7906T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522993 | |||||||
chr7:117523031 | T | A | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.274-7868T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523031 | |||||||
chr7:117523145 | C | T | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.274-7754C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523145 | |||||||
chr7:117523316 | C | T | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.274-7583C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523316 | |||||||
chr7:117523374 | G | T | 1 | a0001c0001t0001g0068 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.274-7525G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523374 | |||||||
chr7:117523381 | G | GT | 74 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show |
74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.274-7505dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117523381 | ||||||
chr7:117523381 | G | GTT | 8 | a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0065 others(5): Show |
8 | HG03654.hp2 HG03669.hp2 HG03688.hp2 others(5): Show |
intron_variant | MODIFIER | c.274-7506_274-7505d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117523381 | ||||||
chr7:117523562 | A | G | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.274-7337A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523562 | |||||||
chr7:117523602 | C | A | 5 | a0001c0001t0004g0072 a0001c0001t0004g0126 a0001c0001t0004g0135 others(2): Show |
5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.274-7297C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523602 | |||||||
chr7:117523620 | T | G | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-7279T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523620 | |||||||
chr7:117524090 | G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.274-6809G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524090 | |||||||
chr7:117524148 | A | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-6751A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524148 | |||||||
chr7:117524385 | T | C | 60 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(57): Show |
61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.274-6514T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524385 | |||||||
chr7:117524392 | G | GA | 7 | a0001c0001t0002g0065 a0001c0001t0002g0195 a0001c0003t0003g0183 others(4): Show |
7 | HG01346.hp1 HG02145.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.274-6492dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117524392 | ||||||
chr7:117524638 | A | G | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.274-6261A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524638 | |||||||
chr7:117524716 | G | A | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.274-6183G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524716 | |||||||
chr7:117524809 | T | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-6090T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524809 | |||||||
chr7:117524901 | G | C | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.274-5998G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524901 | |||||||
chr7:117525015 | C | T | 1 | a0001c0003t0003g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.274-5884C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525015 | |||||||
chr7:117525050 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-5849A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525050 | |||||||
chr7:117525093 | A | G | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-5806A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525093 | |||||||
chr7:117525122 | C | A | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.274-5777C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525122 | |||||||
chr7:117525460 | C | T | 2 | a0002c0002t0001g0161 a0016c0022t0001g0091 |
2 | NA18993.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.274-5439C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525460 | |||||||
chr7:117525577 | G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.274-5322G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525577 | |||||||
chr7:117525704 | C | A | 2 | a0001c0001t0004g0018 a0001c0001t0004g0127 |
2 | HG03130.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.274-5195C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525704 | |||||||
chr7:117525725 | C | T | 25 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(22): Show |
25 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(22): Show |
intron_variant | MODIFIER | c.274-5174C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525725 | |||||||
chr7:117525784 | GTGAGATG others(7): Show |
G | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.274-5111_274-5098d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117525784 | ||||||
chr7:117525898 | G | C | 2 | a0001c0001t0002g0195 a0001c0005t0003g0194 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.274-5001G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525898 | |||||||
chr7:117525920 | T | C | 1 | a0001c0001t0001g0053 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.274-4979T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525920 | |||||||
chr7:117525959 | T | C | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-4940T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525959 | |||||||
chr7:117526011 | T | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.274-4888T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526011 | |||||||
chr7:117526131 | T | C | 1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.274-4768T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526131 | |||||||
chr7:117526138 | A | G | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.274-4761A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526138 | |||||||
chr7:117526199 | T | C | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.274-4700T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526199 | |||||||
chr7:117526340 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-4559A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526340 | |||||||
chr7:117526350 | T | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-4549T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526350 | |||||||
chr7:117526562 | A | G | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-4337A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526562 | |||||||
chr7:117526632 | A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.274-4267A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526632 | |||||||
chr7:117526735 | C | T | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.274-4164C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526735 | |||||||
chr7:117526741 | G | A | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.274-4158G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526741 | |||||||
chr7:117526903 | G | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-3996G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526903 | |||||||
chr7:117527042 | C | T | 10 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(7): Show |
10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.274-3857C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527042 | |||||||
chr7:117527077 | C | T | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-3822C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527077 | |||||||
chr7:117527478 | G | A | 53 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(50): Show |
53 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(50): Show |
intron_variant | MODIFIER | c.274-3421G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527478 | |||||||
chr7:117527497 | T | C | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.274-3402T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527497 | |||||||
chr7:117527585 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.274-3314C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527585 | |||||||
chr7:117527860 | A | G | 5 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(2): Show |
5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.274-3039A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527860 | |||||||
chr7:117527996 | T | C | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-2903T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527996 | |||||||
chr7:117528151 | T | G | 2 | a0001c0005t0003g0196 a0001c0005t0003g0197 |
2 | HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.274-2748T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528151 | |||||||
chr7:117528289 | T | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-2610T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528289 | |||||||
chr7:117528402 | C | G | 1 | a0001c0001t0002g0057 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.274-2497C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528402 | |||||||
chr7:117528429 | T | C | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-2470T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528429 | |||||||
chr7:117528599 | T | G | 1 | a0002c0002t0001g0099 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.274-2300T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528599 | |||||||
chr7:117528679 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.274-2220A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528679 | |||||||
chr7:117528687 | C | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.274-2212C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528687 | |||||||
chr7:117528702 | G | A | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-2197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528702 | |||||||
chr7:117528839 | T | C | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.274-2060T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528839 | |||||||
chr7:117529097 | G | C | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-1802G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529097 | |||||||
chr7:117529140 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.274-1759G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529140 | |||||||
chr7:117529217 | A | G | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.274-1682A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529217 | |||||||
chr7:117529260 | G | A | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.274-1639G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529260 | |||||||
chr7:117529472 | T | A | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.274-1427T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529472 | |||||||
chr7:117529513 | T | TA | 41 | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0020 others(38): Show |
41 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(38): Show |
intron_variant | MODIFIER | c.274-1367dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | ||||||
chr7:117529513 | TA | T | 40 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(37): Show |
41 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.274-1367delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | ||||||
chr7:117529513 | TAA | T | 29 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(26): Show |
29 | HG01074.hp2 HG01243.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.274-1368_274-1367d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | ||||||
chr7:117529513 | TAAA | T | 7 | a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0179 others(4): Show |
7 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.274-1369_274-1367d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | ||||||
chr7:117529515 | A | C | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.274-1384A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529515 | |||||||
chr7:117529547 | T | A | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.274-1352T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529547 | |||||||
chr7:117529813 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.274-1086G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529813 | |||||||
chr7:117529911 | C | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.274-988C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529911 | |||||||
chr7:117530143 | C | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.274-756C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530143 | |||||||
chr7:117530383 | A | G | 33 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(30): Show |
33 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.274-516A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530383 | |||||||
chr7:117530720 | G | A | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-179G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530720 | |||||||
chr7:117531205 | A | G | 4 | a0001c0001t0001g0056 a0001c0001t0002g0034 a0006c0016t0002g0201 others(1): Show |
4 | HG00099.hp1 HG00140.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.489+91A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531205 | |||||||
chr7:117531700 | T | C | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.489+586T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531700 | |||||||
chr7:117531730 | T | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.489+616T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531730 | |||||||
chr7:117531754 | A | G | 2 | a0001c0001t0002g0117 a0001c0001t0004g0118 |
2 | HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.489+640A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531754 | |||||||
chr7:117531798 | T | A | 2 | a0001c0005t0003g0149 a0001c0005t0003g0150 |
2 | HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.489+684T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531798 | |||||||
chr7:117532011 | A | G | 2 | a0001c0004t0001g0006 a0001c0004t0001g0007 |
2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.489+897A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532011 | |||||||
chr7:117532167 | G | A | 1 | a0001c0003t0003g0183 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.489+1053G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532167 | |||||||
chr7:117532203 | G | A | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.489+1089G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532203 | |||||||
chr7:117532215 | T | A | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.489+1101T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532215 | |||||||
chr7:117532677 | A | G | 60 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(57): Show |
61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.489+1563A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532677 | |||||||
chr7:117532729 | C | T | 75 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(72): Show |
75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.490-1547C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532729 | |||||||
chr7:117532824 | A | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.490-1452A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532824 | |||||||
chr7:117533002 | C | T | 2 | a0001c0003t0003g0144 a0001c0003t0003g0145 |
2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.490-1274C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533002 | |||||||
chr7:117533060 | T | C | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.490-1216T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533060 | |||||||
chr7:117533176 | T | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.490-1100T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533176 | |||||||
chr7:117533401 | T | G | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.490-875T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533401 | |||||||
chr7:117533503 | G | A | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.490-773G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533503 | |||||||
chr7:117533794 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.490-482G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533794 | |||||||
chr7:117533818 | G | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.490-458G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533818 | |||||||
chr7:117533846 | AC | A | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.490-429delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533846 | |||||||
chr7:117534013 | T | C | 8 | a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 others(5): Show |
8 | HG01433.hp1 HG02647.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.490-263T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117534013 | |||||||
chr7:117534111 | T | C | 1 | a0012c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.490-165T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117534111 | |||||||
chr7:117534478 | C | T | 2 | a0001c0001t0004g0018 a0001c0001t0004g0127 |
2 | HG03130.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.579+113C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117534478 | |||||||
chr7:117534750 | T | A | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.579+385T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117534750 | |||||||
chr7:117535046 | G | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.580-202G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117535046 | |||||||
chr7:117535089 | G | A | 18 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 others(15): Show |
18 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.580-159G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117535089 | |||||||
chr7:117535451 | A | G | 2 | a0001c0003t0003g0144 a0001c0003t0003g0145 |
2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.743+40A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535451 | |||||||
chr7:117535525 | A | AT | 31 | a0001c0001t0001g0039 a0001c0001t0002g0055 a0001c0001t0002g0065 others(28): Show |
32 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(29): Show |
intron_variant | MODIFIER | c.743+136dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | ||||||
chr7:117535525 | A | ATTTT | 20 | a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0117 others(17): Show |
20 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.743+133_743+136dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | ||||||
chr7:117535525 | AT | A | 8 | a0001c0001t0004g0009 a0001c0001t0005g0019 a0002c0002t0001g0073 others(5): Show |
8 | HG02080.hp1 HG02165.hp1 NA18906.hp1 others(5): Show |
intron_variant | MODIFIER | c.743+136delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | ||||||
chr7:117535556 | G | A | 3 | a0001c0006t0003g0142 a0001c0006t0003g0193 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.743+145G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535556 | |||||||
chr7:117535737 | T | A | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.743+326T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535737 | |||||||
chr7:117536045 | A | C | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.744-503A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536045 | |||||||
chr7:117536052 | A | G | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.744-496A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536052 | |||||||
chr7:117536194 | A | G | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.744-354A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536194 | |||||||
chr7:117536514 | AGATT | A | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
splice_region_variant&intron_variant | LOW | c.744-9_744-6delGATT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117536514 | ||||||
chr7:117536684 | C | T | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.869+11C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536684 | |||||||
chr7:117536761 | T | A | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.869+88T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536761 | |||||||
chr7:117536906 | C | A | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.869+233C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536906 | |||||||
chr7:117536959 | G | A | 2 | a0001c0001t0002g0004 a0002c0023t0006g0173 |
2 | HG01346.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.869+286G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536959 | |||||||
chr7:117537399 | A | AT | 70 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.869+731dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117537399 | ||||||
chr7:117537652 | C | T | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.869+979C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117537652 | |||||||
chr7:117537885 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+1212A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117537885 | |||||||
chr7:117538107 | T | C | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.869+1434T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538107 | |||||||
chr7:117538154 | A | G | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.869+1481A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538154 | |||||||
chr7:117538274 | T | C | 1 | a0002c0002t0002g0146 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.869+1601T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538274 | |||||||
chr7:117538291 | G | T | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.869+1618G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538291 | |||||||
chr7:117538313 | T | C | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.869+1640T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538313 | |||||||
chr7:117538515 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.870-1585A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538515 | |||||||
chr7:117538700 | A | G | 12 | a0001c0003t0003g0116 a0001c0003t0003g0134 a0001c0003t0003g0155 others(9): Show |
12 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.870-1400A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538700 | |||||||
chr7:117538753 | TA | T | 138 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(135): Show |
139 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(136): Show |
intron_variant | MODIFIER | c.870-1345delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117538753 | ||||||
chr7:117538875 | G | A | 2 | a0001c0008t0003g0139 a0001c0008t0010g0133 |
2 | HG01175.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.870-1225G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538875 | |||||||
chr7:117539005 | A | C | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.870-1095A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539005 | |||||||
chr7:117539127 | A | G | 1 | a0001c0017t0001g0064 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.870-973A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539127 | |||||||
chr7:117539335 | T | C | 1 | a0007c0013t0003g0136 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.870-765T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539335 | |||||||
chr7:117539421 | G | GT | 7 | a0001c0001t0002g0117 a0001c0001t0002g0151 a0001c0004t0003g0191 others(4): Show |
7 | HG01496.hp1 HG02818.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.870-668dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117539421 | ||||||
chr7:117539455 | A | G | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.870-645A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539455 | |||||||
chr7:117539932 | A | G | 5 | a0001c0001t0004g0072 a0001c0001t0004g0126 a0001c0001t0004g0135 others(2): Show |
5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-168A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539932 | |||||||
chr7:117540589 | C | G | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1116+243C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540589 | |||||||
chr7:117540822 | C | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1116+476C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540822 | |||||||
chr7:117540938 | C | T | 24 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(21): Show |
24 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1116+592C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540938 | |||||||
chr7:117540958 | C | T | 18 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 others(15): Show |
18 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.1116+612C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540958 | |||||||
chr7:117541098 | A | G | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1116+752A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541098 | |||||||
chr7:117541262 | A | G | 2 | a0001c0003t0003g0021 a0001c0003t0003g0040 |
2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1117-754A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541262 | |||||||
chr7:117541269 | A | C | 2 | a0001c0006t0006g0013 a0001c0006t0006g0014 |
2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1117-747A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541269 | |||||||
chr7:117541292 | G | A | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1117-724G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541292 | |||||||
chr7:117541455 | G | A | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1117-561G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541455 | |||||||
chr7:117541650 | AT | A | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1117-358delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr7 | 117541650 | ||||||
chr7:117542169 | T | C | 2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.1209+61T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542169 | |||||||
chr7:117542533 | C | T | 2 | a0002c0002t0001g0108 a0002c0002t0001g0171 |
2 | HG03239.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.1209+425C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542533 | |||||||
chr7:117542692 | G | T | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1209+584G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542692 | |||||||
chr7:117542897 | C | T | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1209+789C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542897 | |||||||
chr7:117543084 | G | T | 6 | a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0005g0059 others(3): Show |
6 | HG00642.hp1 HG02132.hp1 NA18992.hp2 others(3): Show |
intron_variant | MODIFIER | c.1209+976G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543084 | |||||||
chr7:117543269 | G | A | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1209+1161G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543269 | |||||||
chr7:117543340 | T | C | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1209+1232T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543340 | |||||||
chr7:117543359 | C | T | 2 | a0005c0009t0001g0153 a0005c0009t0001g0154 |
2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1209+1251C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543359 | |||||||
chr7:117544243 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+2135G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544243 | |||||||
chr7:117544413 | C | T | 5 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(2): Show |
5 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.1209+2305C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544413 | |||||||
chr7:117544462 | G | A | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1209+2354G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544462 | |||||||
chr7:117544480 | C | T | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1209+2372C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544480 | |||||||
chr7:117544721 | C | T | 10 | a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 others(7): Show |
10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1209+2613C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544721 | |||||||
chr7:117544854 | T | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+2746T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544854 | |||||||
chr7:117544861 | C | T | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1209+2753C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544861 | |||||||
chr7:117544877 | C | T | 1 | a0001c0001t0002g0024 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1209+2769C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544877 | |||||||
chr7:117544901 | G | A | 3 | a0001c0006t0003g0142 a0001c0006t0003g0193 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1209+2793G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544901 | |||||||
chr7:117545017 | T | C | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1209+2909T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545017 | |||||||
chr7:117545273 | A | C | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1209+3165A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545273 | |||||||
chr7:117545442 | G | A | 1 | a0002c0002t0001g0099 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1210-3199G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545442 | |||||||
chr7:117545651 | A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1210-2990A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545651 | |||||||
chr7:117545798 | A | AT | 6 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(3): Show |
6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1210-2832dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545798 | ||||||
chr7:117545798 | AT | A | 6 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0068 others(3): Show |
6 | HG00609.hp2 HG02056.hp2 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.1210-2832delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545798 | ||||||
chr7:117545823 | A | AT | 10 | a0001c0004t0003g0191 a0002c0002t0001g0095 a0002c0002t0001g0096 others(7): Show |
10 | HG01496.hp1 HG02129.hp1 HG02132.hp2 others(7): Show |
intron_variant | MODIFIER | c.1210-2809dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545823 | ||||||
chr7:117545825 | T | G | 7 | a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 others(4): Show |
7 | HG01433.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.1210-2816T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545825 | |||||||
chr7:117545984 | A | AATTTT | 72 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(69): Show |
72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.1210-2636_1210-263 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545984 | ||||||
chr7:117545984 | A | AATTTTAT others(3): Show |
1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1210-2641_1210-263 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545984 | ||||||
chr7:117546086 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1210-2555C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546086 | |||||||
chr7:117546118 | T | C | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1210-2523T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546118 | |||||||
chr7:117546398 | G | C | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1210-2243G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546398 | |||||||
chr7:117546641 | G | A | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1210-2000G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546641 | |||||||
chr7:117546957 | G | A | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.1210-1684G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546957 | |||||||
chr7:117547407 | T | C | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1210-1234T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547407 | |||||||
chr7:117547446 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-1195G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547446 | |||||||
chr7:117547605 | T | C | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1210-1036T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547605 | |||||||
chr7:117547768 | G | A | 77 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(74): Show |
77 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.1210-873G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547768 | |||||||
chr7:117548111 | T | G | 4 | a0001c0001t0002g0023 a0001c0001t0002g0065 a0011c0028t0002g0031 others(1): Show |
4 | HG02523.hp1 NA18960.hp1 NA18978.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-530T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548111 | |||||||
chr7:117548333 | G | GGT | 58 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(55): Show |
58 | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.1210-277_1210-276d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548333 | G | GGTGTGTG others(3): Show |
4 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0006t0003g0193 others(1): Show |
4 | HG01433.hp2 HG02258.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-285_1210-276d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548333 | G | GGTGTGTG others(5): Show |
2 | a0001c0005t0003g0156 a0012c0024t0003g0148 |
2 | HG02818.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1210-287_1210-276d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548333 | G | GGTGTGTG others(7): Show |
9 | a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 others(6): Show |
9 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.1210-289_1210-276d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548333 | G | GGTGTGTG others(9): Show |
1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1210-291_1210-276d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548333 | G | GGTGTGTG others(11): Show |
2 | a0001c0006t0006g0013 a0001c0006t0006g0014 |
2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1210-293_1210-276d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | ||||||
chr7:117548606 | A | ATG | 60 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(57): Show |
60 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.1210-13_1210-12dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | ||||||
chr7:117548606 | A | ATGTG | 2 | a0001c0003t0003g0021 a0001c0003t0003g0040 |
2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1210-15_1210-12dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | ||||||
chr7:117548606 | ATG | A | 46 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(43): Show |
47 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.1210-13_1210-12del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | ||||||
chr7:117548628 | G | GTT | 6 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(3): Show |
6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.1210-7_1210-6dupTT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548628 | ||||||
chr7:117548628 | G | T | 22 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(19): Show |
22 | HG01071.hp2 HG01074.hp2 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.1210-13G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548628 | |||||||
chr7:117548630 | T | G | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1210-11T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548630 | |||||||
chr7:117549200 | G | T | 18 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(15): Show |
18 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1392+377G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549200 | |||||||
chr7:117549218 | G | A | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1392+395G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549218 | |||||||
chr7:117549321 | A | G | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1392+498A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549321 | |||||||
chr7:117549497 | A | G | 2 | a0001c0003t0003g0180 a0001c0003t0003g0181 |
2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1392+674A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549497 | |||||||
chr7:117549650 | A | G | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.1392+827A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549650 | |||||||
chr7:117550012 | C | T | 58 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(55): Show |
59 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.1392+1189C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550012 | |||||||
chr7:117550143 | G | A | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1392+1320G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550143 | |||||||
chr7:117550286 | GAGCCATG others(1): Show |
G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+1464_1392+147 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550286 | |||||||
chr7:117550329 | C | CA | 9 | a0001c0001t0002g0051 a0001c0001t0004g0018 a0001c0001t0004g0127 others(6): Show |
9 | HG01496.hp1 HG02056.hp1 HG02080.hp1 others(6): Show |
intron_variant | MODIFIER | c.1392+1520dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117550329 | ||||||
chr7:117550329 | CA | C | 27 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(24): Show |
28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.1392+1520delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117550329 | ||||||
chr7:117550544 | T | C | 77 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(74): Show |
77 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.1392+1721T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550544 | |||||||
chr7:117550649 | C | T | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1392+1826C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550649 | |||||||
chr7:117550942 | T | G | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1392+2119T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550942 | |||||||
chr7:117551187 | A | T | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1392+2364A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551187 | |||||||
chr7:117551229 | G | A | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1392+2406G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551229 | |||||||
chr7:117551313 | A | G | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1392+2490A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551313 | |||||||
chr7:117551407 | T | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+2584T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551407 | |||||||
chr7:117551765 | T | C | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1392+2942T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551765 | |||||||
chr7:117551807 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+2984C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551807 | |||||||
chr7:117551834 | T | G | 1 | a0001c0004t0002g0137 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1392+3011T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551834 | |||||||
chr7:117552085 | CATAT | C | 2 | a0001c0001t0002g0195 a0001c0005t0003g0194 |
2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1392+3269_1392+327 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117552085 | ||||||
chr7:117552111 | T | A | 1 | a0002c0002t0002g0147 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1392+3288T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552111 | |||||||
chr7:117552278 | G | C | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1392+3455G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552278 | |||||||
chr7:117552323 | A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1392+3500A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552323 | |||||||
chr7:117552411 | A | T | 1 | a0016c0022t0001g0091 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1392+3588A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552411 | |||||||
chr7:117552554 | A | G | 24 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(21): Show |
25 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.1392+3731A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552554 | |||||||
chr7:117552706 | A | C | 67 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(64): Show |
67 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.1392+3883A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552706 | |||||||
chr7:117552706 | A | G | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1392+3883A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552706 | |||||||
chr7:117552708 | A | C | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1392+3885A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552708 | |||||||
chr7:117553224 | G | GAC | 59 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(56): Show |
60 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.1392+4423_1392+442 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117553224 | ||||||
chr7:117553415 | G | T | 1 | a0012c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1392+4592G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553415 | |||||||
chr7:117553706 | A | T | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1392+4883A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553706 | |||||||
chr7:117553882 | A | G | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1392+5059A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553882 | |||||||
chr7:117553939 | C | A | 4 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(1): Show |
4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1392+5116C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553939 | |||||||
chr7:117554416 | G | A | 25 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(22): Show |
26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.1393-5048G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554416 | |||||||
chr7:117554478 | T | C | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1393-4986T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554478 | |||||||
chr7:117554617 | G | T | 2 | a0005c0009t0001g0153 a0005c0009t0001g0154 |
2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1393-4847G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554617 | |||||||
chr7:117554672 | A | G | 3 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0178 |
3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1393-4792A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554672 | |||||||
chr7:117554717 | T | C | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1393-4747T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554717 | |||||||
chr7:117555177 | G | A | 2 | a0001c0004t0001g0006 a0001c0004t0001g0007 |
2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.1393-4287G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555177 | |||||||
chr7:117555424 | A | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-4040A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555424 | |||||||
chr7:117555454 | G | A | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1393-4010G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555454 | |||||||
chr7:117555492 | A | G | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1393-3972A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555492 | |||||||
chr7:117555503 | T | C | 12 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0009 others(9): Show |
12 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.1393-3961T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555503 | |||||||
chr7:117555547 | A | G | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1393-3917A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555547 | |||||||
chr7:117555548 | T | C | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-3916T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555548 | |||||||
chr7:117555779 | T | C | 1 | a0015c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1393-3685T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555779 | |||||||
chr7:117556139 | A | C | 4 | a0003c0007t0001g0100 a0003c0007t0001g0166 a0003c0007t0001g0167 others(1): Show |
4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-3325A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556139 | |||||||
chr7:117556155 | C | T | 3 | a0001c0004t0002g0137 a0001c0004t0002g0140 a0001c0004t0002g0186 |
3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1393-3309C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556155 | |||||||
chr7:117556212 | G | A | 3 | a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0105 |
3 | HG02080.hp1 NA18982.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.1393-3252G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556212 | |||||||
chr7:117556314 | C | T | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1393-3150C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556314 | |||||||
chr7:117556470 | C | T | 1 | a0012c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1393-2994C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556470 | |||||||
chr7:117556471 | G | T | 3 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0178 |
3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1393-2993G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556471 | |||||||
chr7:117556492 | A | C | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1393-2972A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556492 | |||||||
chr7:117556512 | CT | C | 107 | a0001c0001t0001g0068 a0001c0001t0002g0020 a0001c0001t0002g0030 others(104): Show |
107 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.1393-2927delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | ||||||
chr7:117556512 | CTT | C | 67 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(64): Show |
67 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.1393-2928_1393-292 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | ||||||
chr7:117556512 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0002g0035 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1393-2938_1393-292 others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | ||||||
chr7:117556681 | G | A | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-2783G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556681 | |||||||
chr7:117556709 | C | T | 3 | a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0185 |
3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1393-2755C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556709 | |||||||
chr7:117556761 | C | T | 8 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(5): Show |
8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-2703C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556761 | |||||||
chr7:117556975 | A | C | 8 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(5): Show |
8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-2489A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556975 | |||||||
chr7:117556977 | T | A | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1393-2487T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556977 | |||||||
chr7:117557254 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1393-2210G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117557254 | |||||||
chr7:117557545 | TTTGCTTC others(7): Show |
T | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1393-1912_1393-189 others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117557545 | ||||||
chr7:117557597 | C | T | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-1867C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117557597 | |||||||
chr7:117558244 | G | C | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1393-1220G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558244 | |||||||
chr7:117558360 | C | T | 8 | a0001c0001t0002g0151 a0001c0004t0003g0191 a0001c0005t0003g0149 others(5): Show |
8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-1104C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558360 | |||||||
chr7:117558382 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1393-1082G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558382 | |||||||
chr7:117558401 | A | C | 3 | a0002c0002t0001g0174 a0002c0002t0001g0175 a0017c0011t0001g0112 |
3 | NA18954.hp2 NA19062.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.1393-1063A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558401 | |||||||
chr7:117558509 | G | A | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1393-955G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558509 | |||||||
chr7:117558553 | C | CTAAA | 57 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(54): Show |
57 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.1393-878_1393-875d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | ||||||
chr7:117558553 | C | CTAAATAA others(1): Show |
48 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(45): Show |
48 | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.1393-882_1393-875d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | ||||||
chr7:117558553 | C | CTAAATAA others(5): Show |
4 | a0001c0001t0002g0076 a0001c0001t0002g0199 a0001c0003t0003g0141 others(1): Show |
4 | HG02647.hp2 HG04199.hp2 NA20300.hp2 others(1): Show |
intron_variant | MODIFIER | c.1393-886_1393-875d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | ||||||
chr7:117558553 | C | CTAAATAA others(9): Show |
2 | a0001c0004t0001g0010 a0001c0004t0001g0011 |
2 | HG01516.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.1393-890_1393-875d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | ||||||
chr7:117559158 | G | C | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1393-306G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117559158 | |||||||
chr7:117559403 | A | G | 77 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(74): Show |
77 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.1393-61A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117559403 | |||||||
chr7:117559705 | C | CTACCCAA others(4): Show |
1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+53_1584+63dup others(11): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117559705 | ||||||
chr7:117559982 | T | C | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1584+327T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117559982 | |||||||
chr7:117560130 | T | C | 5 | a0001c0001t0004g0072 a0001c0001t0004g0126 a0001c0001t0004g0135 others(2): Show |
5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1584+475T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560130 | |||||||
chr7:117560427 | G | C | 77 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(74): Show |
77 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.1584+772G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560427 | |||||||
chr7:117560456 | G | T | 73 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show |
73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1584+801G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560456 | |||||||
chr7:117560682 | C | T | 5 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(2): Show |
5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+1027C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560682 | |||||||
chr7:117560845 | C | T | 21 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0045 others(18): Show |
21 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(18): Show |
intron_variant | MODIFIER | c.1584+1190C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560845 | |||||||
chr7:117560981 | A | C | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1584+1326A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560981 | |||||||
chr7:117561047 | T | A | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1584+1392T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561047 | |||||||
chr7:117561309 | CT | C | 24 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(21): Show |
25 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.1584+1664delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117561309 | ||||||
chr7:117561356 | T | A | 1 | a0002c0021t0001g0165 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1584+1701T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561356 | |||||||
chr7:117561582 | G | A | 1 | a0001c0001t0002g0046 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1584+1927G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561582 | |||||||
chr7:117561598 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+1943C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561598 | |||||||
chr7:117562018 | A | G | 2 | a0001c0001t0004g0072 a0001c0001t0004g0126 |
2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1584+2363A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562018 | |||||||
chr7:117562380 | A | G | 31 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(28): Show |
32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.1584+2725A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562380 | |||||||
chr7:117562404 | G | T | 1 | a0001c0004t0001g0011 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1584+2749G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562404 | |||||||
chr7:117562422 | C | T | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1584+2767C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562422 | |||||||
chr7:117562430 | C | G | 72 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(69): Show |
72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.1584+2775C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562430 | |||||||
chr7:117562763 | A | G | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1584+3108A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562763 | |||||||
chr7:117562774 | T | C | 1 | a0003c0007t0001g0168 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1584+3119T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562774 | |||||||
chr7:117563339 | A | T | 5 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(2): Show |
5 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.1584+3684A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563339 | |||||||
chr7:117563363 | A | G | 62 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(59): Show |
63 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.1584+3708A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563363 | |||||||
chr7:117563367 | A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+3712A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563367 | |||||||
chr7:117563520 | GA | G | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+3867delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117563520 | ||||||
chr7:117564113 | C | T | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+4458C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564113 | |||||||
chr7:117564268 | G | T | 3 | a0001c0001t0004g0018 a0001c0001t0004g0127 a0001c0001t0004g0182 |
3 | HG03130.hp2 HG03209.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1584+4613G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564268 | |||||||
chr7:117564408 | A | G | 33 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(30): Show |
33 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.1584+4753A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564408 | |||||||
chr7:117564659 | T | G | 4 | a0001c0001t0002g0195 a0001c0005t0003g0194 a0001c0005t0003g0196 others(1): Show |
4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1584+5004T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564659 | |||||||
chr7:117564752 | G | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1584+5097G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564752 | |||||||
chr7:117565140 | C | G | 1 | a0001c0003t0003g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1584+5485C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565140 | |||||||
chr7:117565360 | C | T | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1584+5705C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565360 | |||||||
chr7:117565762 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+6107A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565762 | |||||||
chr7:117566248 | A | AAC | 19 | a0001c0001t0002g0121 a0001c0004t0001g0143 a0001c0004t0002g0124 others(16): Show |
19 | HG01433.hp1 HG02080.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.1584+6630_1584+663 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | A | AACAC | 23 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0116 others(20): Show |
23 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.1584+6628_1584+663 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | A | AACACAC | 12 | a0001c0001t0002g0003 a0001c0001t0002g0195 a0001c0004t0001g0010 others(9): Show |
12 | HG01433.hp2 HG01496.hp1 HG01516.hp2 others(9): Show |
intron_variant | MODIFIER | c.1584+6626_1584+663 others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | A | AACACACA others(1): Show |
4 | a0001c0001t0002g0004 a0001c0003t0003g0145 a0001c0004t0001g0006 others(1): Show |
4 | HG01071.hp2 HG01074.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.1584+6624_1584+663 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | A | AACACACA others(3): Show |
5 | a0001c0001t0002g0151 a0001c0004t0002g0008 a0001c0005t0003g0149 others(2): Show |
5 | HG02630.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+6622_1584+663 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | AAC | A | 54 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(51): Show |
54 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.1584+6630_1584+663 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566248 | AACACAC | A | 3 | a0001c0001t0002g0063 a0001c0004t0002g0137 a0001c0004t0002g0186 |
3 | HG01074.hp1 HG01192.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.1584+6626_1584+663 others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | ||||||
chr7:117566599 | T | TA | 30 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(27): Show |
30 | HG01433.hp1 HG01891.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.1584+6959dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566599 | ||||||
chr7:117566599 | TA | T | 59 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(56): Show |
intron_variant | MODIFIER | c.1584+6959delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566599 | ||||||
chr7:117566617 | A | G | 1 | a0001c0001t0002g0030 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1584+6962A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566617 | |||||||
chr7:117566641 | G | A | 2 | a0002c0002t0001g0086 a0002c0002t0001g0160 |
2 | HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.1584+6986G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566641 | |||||||
chr7:117566829 | A | G | 22 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(19): Show |
22 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+7174A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566829 | |||||||
chr7:117566850 | C | A | 3 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 |
3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1584+7195C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566850 | |||||||
chr7:117566875 | A | G | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1584+7220A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566875 | |||||||
chr7:117566887 | T | G | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+7232T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566887 | |||||||
chr7:117567162 | C | T | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1584+7507C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567162 | |||||||
chr7:117567333 | A | G | 2 | a0001c0004t0002g0131 a0001c0004t0002g0132 |
2 | HG02647.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.1584+7678A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567333 | |||||||
chr7:117567706 | C | T | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1584+8051C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567706 | |||||||
chr7:117567754 | TC | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1584+8100delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567754 | |||||||
chr7:117567793 | C | T | 1 | a0001c0001t0002g0179 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1584+8138C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567793 | |||||||
chr7:117567806 | C | A | 97 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(94): Show |
98 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.1584+8151C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567806 | |||||||
chr7:117567851 | A | G | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1584+8196A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567851 | |||||||
chr7:117568022 | A | T | 1 | a0002c0002t0001g0094 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1584+8367A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568022 | |||||||
chr7:117568250 | G | A | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1584+8595G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568250 | |||||||
chr7:117568282 | G | A | 1 | a0001c0001t0002g0119 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1584+8627G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568282 | |||||||
chr7:117568340 | C | T | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1584+8685C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568340 | |||||||
chr7:117568499 | T | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1584+8844T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568499 | |||||||
chr7:117568572 | A | G | 7 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(4): Show |
7 | HG02922.hp1 HG03130.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1584+8917A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568572 | |||||||
chr7:117569645 | G | GAGAAA | 3 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 |
3 | NA18988.hp1 NA19011.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1584+9993_1584+999 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117569645 | ||||||
chr7:117570208 | C | A | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1584+10553C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570208 | |||||||
chr7:117570281 | G | A | 1 | a0001c0001t0001g0068 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1584+10626G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570281 | |||||||
chr7:117570291 | A | G | 2 | a0001c0004t0001g0006 a0001c0004t0001g0007 |
2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.1584+10636A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570291 | |||||||
chr7:117570314 | C | T | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+10659C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570314 | |||||||
chr7:117570346 | G | A | 4 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(1): Show |
4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1584+10691G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570346 | |||||||
chr7:117570762 | A | G | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1584+11107A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570762 | |||||||
chr7:117570999 | C | A | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+11344C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570999 | |||||||
chr7:117571000 | A | G | 31 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(28): Show |
32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.1584+11345A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571000 | |||||||
chr7:117571053 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+11398C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571053 | |||||||
chr7:117571512 | C | T | 1 | a0001c0001t0004g0127 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1584+11857C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571512 | |||||||
chr7:117571799 | T | C | 104 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(101): Show |
105 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.1584+12144T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571799 | |||||||
chr7:117571897 | T | C | 4 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(1): Show |
4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1584+12242T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571897 | |||||||
chr7:117571958 | G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+12303G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571958 | |||||||
chr7:117571986 | C | CT | 97 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(94): Show |
98 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.1584+12338dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117571986 | ||||||
chr7:117572634 | C | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1584+12979C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117572634 | |||||||
chr7:117572669 | T | C | 137 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(134): Show |
138 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.1584+13014T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117572669 | |||||||
chr7:117573036 | T | TTCTCTC | 61 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(58): Show |
61 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.1584+13397_1584+13 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573036 | ||||||
chr7:117573036 | T | TTCTCTCT others(1): Show |
9 | a0001c0001t0002g0046 a0001c0001t0002g0151 a0001c0001t0002g0195 others(6): Show |
9 | HG00323.hp2 HG01496.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1584+13395_1584+13 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573036 | ||||||
chr7:117573047 | TCTCTCTC others(5): Show |
T | 21 | a0001c0003t0003g0001 a0001c0003t0003g0113 a0001c0003t0003g0114 others(18): Show |
22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+13403_1584+13 others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573047 | ||||||
chr7:117573058 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+13403T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573058 | |||||||
chr7:117573059 | G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+13404G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573059 | |||||||
chr7:117573062 | C | G | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1584+13407C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573062 | |||||||
chr7:117573447 | G | A | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1584+13792G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573447 | |||||||
chr7:117573715 | G | A | 6 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0141 others(3): Show |
6 | HG02451.hp1 HG02647.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1585-14024G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573715 | |||||||
chr7:117573990 | G | C | 2 | a0001c0001t0002g0023 a0014c0014t0002g0027 |
2 | NA18960.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.1585-13749G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573990 | |||||||
chr7:117574035 | T | C | 71 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(68): Show |
71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.1585-13704T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574035 | |||||||
chr7:117574071 | T | C | 93 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(90): Show |
94 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.1585-13668T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574071 | |||||||
chr7:117574319 | G | C | 50 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0075 others(47): Show |
50 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(47): Show |
intron_variant | MODIFIER | c.1585-13420G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574319 | |||||||
chr7:117574397 | A | G | 5 | a0001c0004t0002g0137 a0001c0004t0002g0186 a0001c0006t0003g0193 others(2): Show |
5 | HG01074.hp1 HG01192.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1585-13342A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574397 | |||||||
chr7:117574417 | T | G | 9 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(6): Show |
9 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.1585-13322T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574417 | |||||||
chr7:117574560 | G | A | 3 | a0001c0004t0002g0137 a0001c0004t0002g0140 a0001c0004t0002g0186 |
3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1585-13179G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574560 | |||||||
chr7:117574971 | C | T | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1585-12768C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574971 | |||||||
chr7:117574972 | G | A | 1 | a0012c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1585-12767G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574972 | |||||||
chr7:117575219 | T | C | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1585-12520T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575219 | |||||||
chr7:117575430 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-12309T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575430 | |||||||
chr7:117575651 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-12088C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575651 | |||||||
chr7:117575746 | G | A | 1 | a0001c0001t0002g0065 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1585-11993G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575746 | |||||||
chr7:117576427 | G | T | 4 | a0003c0007t0001g0100 a0003c0007t0001g0166 a0003c0007t0001g0167 others(1): Show |
4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.1585-11312G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576427 | |||||||
chr7:117576494 | G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-11245G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576494 | |||||||
chr7:117576537 | G | A | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1585-11202G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576537 | |||||||
chr7:117576562 | C | G | 3 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0127 |
3 | HG03130.hp2 NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1585-11177C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576562 | |||||||
chr7:117576606 | T | C | 3 | a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0054 |
3 | HG02148.hp1 NA18947.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.1585-11133T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576606 | |||||||
chr7:117576658 | G | A | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1585-11081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576658 | |||||||
chr7:117576875 | TC | T | 64 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(61): Show |
64 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.1585-10862delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117576875 | ||||||
chr7:117577044 | C | T | 1 | a0016c0022t0001g0091 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1585-10695C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577044 | |||||||
chr7:117577099 | G | C | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1585-10640G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577099 | |||||||
chr7:117577409 | T | A | 24 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(21): Show |
24 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1585-10330T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577409 | |||||||
chr7:117577667 | C | T | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1585-10072C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577667 | |||||||
chr7:117577671 | C | T | 42 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0075 others(39): Show |
42 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(39): Show |
intron_variant | MODIFIER | c.1585-10068C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577671 | |||||||
chr7:117577885 | G | A | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1585-9854G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577885 | |||||||
chr7:117577933 | T | C | 5 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(2): Show |
5 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.1585-9806T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577933 | |||||||
chr7:117578092 | C | T | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1585-9647C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578092 | |||||||
chr7:117578105 | T | A | 114 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(111): Show |
114 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.1585-9634T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578105 | |||||||
chr7:117578209 | C | G | 2 | a0001c0004t0001g0017 a0001c0004t0002g0016 |
2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1585-9530C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578209 | |||||||
chr7:117578290 | C | A | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1585-9449C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578290 | |||||||
chr7:117578521 | G | A | 135 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1585-9218G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578521 | |||||||
chr7:117579127 | G | A | 5 | a0001c0001t0002g0151 a0001c0005t0003g0149 a0001c0005t0003g0150 others(2): Show |
5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1585-8612G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579127 | |||||||
chr7:117579180 | A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1585-8559A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579180 | |||||||
chr7:117579337 | T | C | 2 | a0001c0006t0006g0013 a0001c0006t0006g0014 |
2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1585-8402T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579337 | |||||||
chr7:117579471 | T | G | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1585-8268T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579471 | |||||||
chr7:117579744 | G | C | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1585-7995G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579744 | |||||||
chr7:117579781 | C | T | 64 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(61): Show |
64 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.1585-7958C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579781 | |||||||
chr7:117579795 | A | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1585-7944A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579795 | |||||||
chr7:117580337 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-7402G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580337 | |||||||
chr7:117580349 | A | G | 50 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0075 others(47): Show |
50 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(47): Show |
intron_variant | MODIFIER | c.1585-7390A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580349 | |||||||
chr7:117580365 | T | C | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-7374T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580365 | |||||||
chr7:117580585 | T | C | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-7154T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580585 | |||||||
chr7:117580630 | G | A | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1585-7109G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580630 | |||||||
chr7:117580807 | A | G | 114 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(111): Show |
114 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.1585-6932A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580807 | |||||||
chr7:117580952 | G | A | 114 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(111): Show |
114 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.1585-6787G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580952 | |||||||
chr7:117581122 | G | A | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1585-6617G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581122 | |||||||
chr7:117581177 | G | A | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1585-6562G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581177 | |||||||
chr7:117581497 | C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1585-6242C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581497 | |||||||
chr7:117581633 | A | G | 1 | a0002c0002t0001g0175 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1585-6106A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581633 | |||||||
chr7:117581792 | C | T | 1 | a0003c0007t0001g0100 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1585-5947C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581792 | |||||||
chr7:117581817 | C | G | 4 | a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 others(1): Show |
4 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.1585-5922C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581817 | |||||||
chr7:117581819 | C | T | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1585-5920C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581819 | |||||||
chr7:117582184 | A | G | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(49): Show |
52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1585-5555A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117582184 | |||||||
chr7:117583323 | C | T | 14 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(11): Show |
14 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1585-4416C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583323 | |||||||
chr7:117583536 | A | G | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1585-4203A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583536 | |||||||
chr7:117583606 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1585-4133G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583606 | |||||||
chr7:117583642 | CT | C | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1585-4086delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117583642 | ||||||
chr7:117583710 | G | A | 113 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(110): Show |
113 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(110): Show |
intron_variant | MODIFIER | c.1585-4029G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583710 | |||||||
chr7:117583765 | G | A | 3 | a0001c0004t0002g0137 a0001c0004t0002g0140 a0001c0004t0002g0186 |
3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1585-3974G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583765 | |||||||
chr7:117583884 | G | A | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1585-3855G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583884 | |||||||
chr7:117584386 | G | A | 198 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.1585-3353G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584386 | |||||||
chr7:117584596 | G | A | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1585-3143G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584596 | |||||||
chr7:117584619 | T | C | 2 | a0001c0001t0004g0072 a0001c0001t0004g0126 |
2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1585-3120T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584619 | |||||||
chr7:117584670 | C | A | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1585-3069C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584670 | |||||||
chr7:117584824 | T | C | 7 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(4): Show |
7 | HG02922.hp1 HG03130.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1585-2915T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584824 | |||||||
chr7:117584926 | T | G | 113 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(110): Show |
114 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(111): Show |
intron_variant | MODIFIER | c.1585-2813T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584926 | |||||||
chr7:117584930 | GTTTGT | G | 108 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(105): Show |
109 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.1585-2785_1585-278 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117584930 | ||||||
chr7:117585105 | C | T | 107 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(104): Show |
108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.1585-2634C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117585105 | |||||||
chr7:117585591 | C | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1585-2148C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117585591 | |||||||
chr7:117586309 | G | A | 3 | a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0185 |
3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1585-1430G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586309 | |||||||
chr7:117586675 | G | T | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1585-1064G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586675 | |||||||
chr7:117586850 | G | A | 13 | a0001c0003t0003g0001 a0001c0003t0003g0116 a0001c0003t0003g0134 others(10): Show |
14 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1585-889G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586850 | |||||||
chr7:117586884 | A | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-855A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586884 | |||||||
chr7:117587121 | A | G | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1585-618A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587121 | |||||||
chr7:117587427 | G | T | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1585-312G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587427 | |||||||
chr7:117587667 | G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1585-72G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587667 | |||||||
chr7:117587972 | G | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1679+139G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117587972 | |||||||
chr7:117588050 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1679+217G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588050 | |||||||
chr7:117588150 | T | C | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1679+317T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588150 | |||||||
chr7:117588270 | G | A | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1679+437G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588270 | |||||||
chr7:117588317 | G | T | 1 | a0002c0002t0001g0090 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1679+484G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588317 | |||||||
chr7:117588323 | A | G | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1679+490A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588323 | |||||||
chr7:117588569 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1679+736T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588569 | |||||||
chr7:117588958 | C | G | 11 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(8): Show |
11 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1679+1125C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588958 | |||||||
chr7:117589113 | G | A | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-1240G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589113 | |||||||
chr7:117589191 | C | A | 3 | a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0178 |
3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1680-1162C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589191 | |||||||
chr7:117589282 | A | G | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-1071A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589282 | |||||||
chr7:117589313 | G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1680-1040G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589313 | |||||||
chr7:117589483 | T | A | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-870T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589483 | |||||||
chr7:117589506 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1680-847A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589506 | |||||||
chr7:117589765 | A | G | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-588A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589765 | |||||||
chr7:117589783 | G | T | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-570G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589783 | |||||||
chr7:117589905 | A | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1680-448A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589905 | |||||||
chr7:117589939 | C | T | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1680-414C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589939 | |||||||
chr7:117590229 | T | C | 23 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(20): Show |
23 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1680-124T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117590229 | |||||||
chr7:117590591 | T | A | 107 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(104): Show |
108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.1766+152T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117590591 | |||||||
chr7:117590726 | T | C | 50 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(47): Show |
50 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.1766+287T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117590726 | |||||||
chr7:117591092 | C | T | 197 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(194): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.1766+653C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591092 | |||||||
chr7:117591514 | A | G | 1 | a0001c0001t0004g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1767-420A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591514 | |||||||
chr7:117591585 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1767-349G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591585 | |||||||
chr7:117591780 | A | G | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1767-154A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591780 | |||||||
chr7:117591798 | T | C | 27 | a0001c0001t0002g0151 a0001c0003t0003g0001 a0001c0003t0003g0113 others(24): Show |
28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.1767-136T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591798 | |||||||
chr7:117592758 | G | T | 1 | a0001c0001t0002g0035 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2490+101G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592758 | |||||||
chr7:117592854 | A | T | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2490+197A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592854 | |||||||
chr7:117592890 | T | G | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2490+233T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592890 | |||||||
chr7:117593197 | A | G | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2490+540A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593197 | |||||||
chr7:117593418 | A | G | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2490+761A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593418 | |||||||
chr7:117593533 | A | G | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2490+876A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593533 | |||||||
chr7:117593627 | G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2490+970G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593627 | |||||||
chr7:117593640 | G | C | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.2490+983G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593640 | |||||||
chr7:117593759 | C | A | 1 | a0010c0025t0001g0172 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2490+1102C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593759 | |||||||
chr7:117594122 | G | A | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.2491-808G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594122 | |||||||
chr7:117594344 | T | A | 26 | a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 others(23): Show |
26 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.2491-586T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594344 | |||||||
chr7:117594483 | A | G | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.2491-447A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594483 | |||||||
chr7:117595142 | CAT | C | 107 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(104): Show |
108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.2619+86_2619+87del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117595142 | ||||||
chr7:117595164 | T | A | 51 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(48): Show |
51 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.2619+106T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595164 | |||||||
chr7:117595496 | A | G | 107 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(104): Show |
108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.2619+438A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595496 | |||||||
chr7:117595523 | G | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2619+465G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595523 | |||||||
chr7:117595671 | C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2619+613C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595671 | |||||||
chr7:117595832 | A | G | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.2619+774A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595832 | |||||||
chr7:117596176 | C | T | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2619+1118C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596176 | |||||||
chr7:117596212 | T | C | 134 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.2619+1154T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596212 | |||||||
chr7:117596364 | C | A | 1 | a0001c0001t0002g0076 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2619+1306C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596364 | |||||||
chr7:117596624 | A | C | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2619+1566A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596624 | |||||||
chr7:117596778 | A | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2619+1720A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596778 | |||||||
chr7:117596958 | C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2619+1900C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596958 | |||||||
chr7:117596995 | C | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2619+1937C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596995 | |||||||
chr7:117597224 | C | T | 51 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(48): Show |
51 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.2619+2166C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597224 | |||||||
chr7:117597274 | C | T | 79 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(76): Show |
79 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.2619+2216C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597274 | |||||||
chr7:117597317 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2619+2259C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597317 | |||||||
chr7:117597380 | C | T | 22 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(19): Show |
22 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.2619+2322C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597380 | |||||||
chr7:117597523 | C | T | 1 | a0002c0002t0001g0070 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.2619+2465C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597523 | |||||||
chr7:117597726 | C | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2619+2668C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597726 | |||||||
chr7:117597773 | T | C | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2619+2715T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597773 | |||||||
chr7:117597813 | TA | T | 70 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.2619+2767delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117597813 | ||||||
chr7:117597858 | A | G | 1 | a0001c0001t0002g0004 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2619+2800A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597858 | |||||||
chr7:117597881 | C | T | 11 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(8): Show |
11 | HG01074.hp1 HG01192.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2619+2823C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597881 | |||||||
chr7:117598031 | A | G | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2619+2973A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598031 | |||||||
chr7:117598321 | C | T | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2619+3263C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598321 | |||||||
chr7:117598325 | T | G | 131 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(128): Show |
132 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.2619+3267T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598325 | |||||||
chr7:117598367 | C | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2619+3309C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598367 | |||||||
chr7:117598391 | T | G | 132 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(129): Show |
133 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.2619+3333T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598391 | |||||||
chr7:117598399 | A | C | 61 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(58): Show |
61 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.2619+3341A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598399 | |||||||
chr7:117598666 | G | C | 8 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(5): Show |
8 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.2619+3608G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598666 | |||||||
chr7:117599040 | C | T | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.2620-3786C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599040 | |||||||
chr7:117599318 | C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2620-3508C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599318 | |||||||
chr7:117599538 | A | C | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2620-3288A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599538 | |||||||
chr7:117599568 | ATT | A | 5 | a0001c0004t0002g0008 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02630.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-3257_2620-325 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599568 | |||||||
chr7:117600006 | A | G | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2620-2820A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600006 | |||||||
chr7:117600121 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-2705G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600121 | |||||||
chr7:117600609 | G | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2620-2217G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600609 | |||||||
chr7:117600614 | A | T | 126 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(123): Show |
127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.2620-2212A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600614 | |||||||
chr7:117600667 | T | C | 3 | a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0164 |
3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2620-2159T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600667 | |||||||
chr7:117600965 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2620-1861C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600965 | |||||||
chr7:117600977 | C | A | 128 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(125): Show |
129 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.2620-1849C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600977 | |||||||
chr7:117601329 | G | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-1497G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601329 | |||||||
chr7:117601340 | A | T | 66 | a0001c0001t0002g0195 a0001c0001t0004g0009 a0001c0001t0004g0018 others(63): Show |
67 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2620-1486A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601340 | |||||||
chr7:117601454 | A | G | 37 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(34): Show |
38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.2620-1372A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601454 | |||||||
chr7:117601659 | A | G | 1 | a0002c0002t0001g0073 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2620-1167A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601659 | |||||||
chr7:117601745 | G | A | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2620-1081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601745 | |||||||
chr7:117601805 | T | C | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.2620-1021T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601805 | |||||||
chr7:117601970 | CAAT | C | 26 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(23): Show |
27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.2620-851_2620-849d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117601970 | ||||||
chr7:117601997 | C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2620-829C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601997 | |||||||
chr7:117602039 | CT | C | 5 | a0001c0003t0003g0021 a0001c0003t0003g0026 a0001c0003t0003g0040 others(2): Show |
5 | HG02040.hp2 HG03017.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-777delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117602039 | ||||||
chr7:117602171 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-655C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602171 | |||||||
chr7:117602612 | C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-214C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602612 | |||||||
chr7:117602646 | G | A | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2620-180G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602646 | |||||||
chr7:117603148 | C | A | 10 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(7): Show |
10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2657+285C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 16/26 | chr7 | 117603148 | |||||||
chr7:117603889 | C | A | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2908+107C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603889 | |||||||
chr7:117603920 | C | T | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2908+138C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603920 | |||||||
chr7:117603995 | G | A | 1 | a0017c0011t0001g0112 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2908+213G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603995 | |||||||
chr7:117604170 | TTCTA | T | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2908+390_2908+393d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr7 | 117604170 | ||||||
chr7:117604346 | G | C | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2908+564G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604346 | |||||||
chr7:117604591 | T | C | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2908+809T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604591 | |||||||
chr7:117604659 | G | A | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2908+877G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604659 | |||||||
chr7:117604988 | A | C | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2908+1206A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604988 | |||||||
chr7:117605058 | G | A | 1 | a0001c0001t0002g0057 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2908+1276G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605058 | |||||||
chr7:117605446 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2909-1228C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605446 | |||||||
chr7:117605811 | T | C | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2909-863T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605811 | |||||||
chr7:117605874 | C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2909-800C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605874 | |||||||
chr7:117605928 | A | G | 10 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(7): Show |
10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.2909-746A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605928 | |||||||
chr7:117606113 | C | T | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2909-561C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606113 | |||||||
chr7:117606228 | G | C | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2909-446G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606228 | |||||||
chr7:117606235 | G | A | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2909-439G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606235 | |||||||
chr7:117606261 | A | C | 60 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(57): Show |
60 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.2909-413A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606261 | |||||||
chr7:117606581 | C | T | 1 | a0001c0001t0004g0127 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2909-93C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606581 | |||||||
chr7:117606582 | G | A | 26 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(23): Show |
27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.2909-92G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606582 | |||||||
chr7:117606603 | G | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2909-71G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606603 | |||||||
chr7:117606773 | G | A | 1 | a0002c0002t0001g0107 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2988+20G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117606773 | |||||||
chr7:117606991 | G | C | 2 | a0001c0001t0002g0176 a0001c0001t0002g0177 |
2 | HG01243.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2988+238G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117606991 | |||||||
chr7:117607104 | C | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2988+351C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607104 | |||||||
chr7:117607173 | G | T | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2988+420G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607173 | |||||||
chr7:117607197 | G | T | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2988+444G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607197 | |||||||
chr7:117607337 | G | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2988+584G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607337 | |||||||
chr7:117607389 | A | G | 25 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(22): Show |
25 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(22): Show |
intron_variant | MODIFIER | c.2988+636A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607389 | |||||||
chr7:117607437 | T | C | 1 | a0002c0002t0001g0103 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2988+684T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607437 | |||||||
chr7:117608138 | T | C | 1 | a0001c0001t0002g0055 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2988+1385T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608138 | |||||||
chr7:117608180 | T | G | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.2988+1427T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608180 | |||||||
chr7:117608207 | AT | A | 60 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(57): Show |
60 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.2988+1465delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr7 | 117608207 | ||||||
chr7:117608307 | C | T | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2988+1554C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608307 | |||||||
chr7:117608488 | T | C | 1 | a0008c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2988+1735T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608488 | |||||||
chr7:117608700 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2989-1819T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608700 | |||||||
chr7:117608791 | T | C | 26 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(23): Show |
26 | HG01346.hp1 HG01496.hp1 HG02145.hp2 others(23): Show |
intron_variant | MODIFIER | c.2989-1728T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608791 | |||||||
chr7:117608849 | A | T | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2989-1670A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608849 | |||||||
chr7:117609395 | C | T | 2 | a0001c0001t0001g0039 a0001c0017t0001g0064 |
2 | NA19066.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.2989-1124C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609395 | |||||||
chr7:117609454 | C | A | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2989-1065C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609454 | |||||||
chr7:117609788 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2989-731T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609788 | |||||||
chr7:117609924 | G | C | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2989-595G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609924 | |||||||
chr7:117610130 | G | C | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2989-389G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610130 | |||||||
chr7:117610162 | C | T | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2989-357C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610162 | |||||||
chr7:117610425 | CA | C | 69 | a0001c0001t0002g0195 a0001c0001t0004g0009 a0001c0001t0004g0018 others(66): Show |
70 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(67): Show |
intron_variant | MODIFIER | c.2989-81delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr7 | 117610425 | ||||||
chr7:117610450 | C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2989-69C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610450 | |||||||
chr7:117610711 | A | T | 10 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(7): Show |
10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3139+42A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117610711 | |||||||
chr7:117610868 | A | T | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3139+199A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117610868 | |||||||
chr7:117611058 | C | T | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3139+389C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611058 | |||||||
chr7:117611124 | A | T | 1 | a0002c0002t0001g0161 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.3139+455A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611124 | |||||||
chr7:117611420 | A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3140-161A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611420 | |||||||
chr7:117611489 | T | C | 25 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(22): Show |
25 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(22): Show |
intron_variant | MODIFIER | c.3140-92T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611489 | |||||||
chr7:117611845 | G | A | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.3367+37G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117611845 | |||||||
chr7:117611933 | G | GTTTATTA others(32): Show |
1 | a0001c0001t0005g0019 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.3367+132_3367+170d others(41): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117611933 | ||||||
chr7:117612004 | C | T | 16 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(13): Show |
16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3367+196C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612004 | |||||||
chr7:117612006 | G | GAT | 11 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0042 others(8): Show |
11 | HG01243.hp2 HG01433.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.3367+213_3367+214d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612006 | G | GATATATA others(13): Show |
1 | a0001c0001t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(22): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612006 | G | GATATATA others(27): Show |
1 | a0001c0001t0004g0072 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(36): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612006 | GATATATA others(13): Show |
G | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3367+215_3367+234d others(22): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612006 | GATATATA others(15): Show |
G | 3 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 |
3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+236d others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612006 | GATATATA others(17): Show |
G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3367+215_3367+238d others(26): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | ||||||
chr7:117612008 | TATATATA others(39): Show |
T | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3367+214_3367+259d others(48): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612008 | ||||||
chr7:117612009 | A | ATATATAT others(9): Show |
3 | a0001c0001t0002g0058 a0002c0002t0002g0088 a0011c0028t0002g0031 |
3 | HG02523.hp1 HG03688.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.3367+214_3367+215i others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | ||||||
chr7:117612009 | A | ATATATAT others(69): Show |
1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3367+230_3367+231i others(78): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | ||||||
chr7:117612009 | ATATATAT others(7): Show |
A | 2 | a0001c0006t0003g0193 a0001c0019t0003g0192 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+228d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | ||||||
chr7:117612011 | A | ATATATAT others(7): Show |
4 | a0001c0001t0002g0063 a0001c0001t0004g0135 a0001c0004t0002g0016 others(1): Show |
4 | HG00140.hp1 HG03139.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612011 | ||||||
chr7:117612011 | ATATATAT others(5): Show |
A | 2 | a0001c0006t0003g0198 a0002c0002t0002g0147 |
2 | HG02895.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+226d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612011 | ||||||
chr7:117612013 | A | ATATATAT others(5): Show |
2 | a0001c0001t0002g0057 a0001c0001t0002g0199 |
2 | HG00609.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3367+214_3367+215i others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | ||||||
chr7:117612013 | A | ATATATAT others(39): Show |
1 | a0015c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.3367+214_3367+215i others(48): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | ||||||
chr7:117612013 | ATATATAT others(3): Show |
A | 2 | a0001c0006t0003g0142 a0002c0002t0002g0146 |
2 | HG01258.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.3367+215_3367+224d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | ||||||
chr7:117612015 | A | ATATATAT others(3): Show |
6 | a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0035 others(3): Show |
6 | HG00099.hp1 HG02922.hp1 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612015 | ||||||
chr7:117612017 | A | ATATATAT others(1): Show |
4 | a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0055 others(1): Show |
4 | HG01993.hp1 HG02080.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | ||||||
chr7:117612017 | A | ATATATAT others(29): Show |
1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | ||||||
chr7:117612017 | ATATATG | A | 2 | a0001c0001t0004g0182 a0001c0005t0003g0196 |
2 | HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3367+215_3367+220d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | ||||||
chr7:117612019 | A | ATATATG | 9 | a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0036 others(6): Show |
9 | HG02129.hp2 HG02895.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | ||||||
chr7:117612019 | A | ATATATGT others(29): Show |
1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | ||||||
chr7:117612019 | A | ATATATGT others(33): Show |
1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(42): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | ||||||
chr7:117612019 | A | ATATATGT others(3): Show |
1 | a0001c0001t0002g0151 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3367+214_3367+215i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | ||||||
chr7:117612021 | A | ATATG | 9 | a0001c0001t0002g0022 a0001c0001t0002g0067 a0001c0001t0002g0117 others(6): Show |
9 | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612021 | ||||||
chr7:117612023 | G | A | 50 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(47): Show |
50 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.3367+215G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612023 | |||||||
chr7:117612023 | G | GTA | 30 | a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0004t0001g0017 others(27): Show |
30 | HG00323.hp2 HG00609.hp1 HG01123.hp2 others(27): Show |
intron_variant | MODIFIER | c.3367+244_3367+245d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATA | 8 | a0002c0002t0001g0041 a0002c0002t0001g0086 a0002c0002t0001g0098 others(5): Show |
8 | HG00099.hp2 HG00140.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.3367+242_3367+245d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATA | 8 | a0001c0001t0001g0068 a0001c0001t0002g0045 a0001c0004t0001g0010 others(5): Show |
8 | HG02027.hp2 HG02056.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.3367+240_3367+245d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(1): Show |
2 | a0001c0001t0002g0071 a0002c0002t0001g0097 |
2 | NA18993.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.3367+238_3367+245d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(3): Show |
1 | a0002c0002t0001g0101 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.3367+236_3367+245d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(5): Show |
1 | a0001c0001t0002g0046 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.3367+234_3367+245d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(7): Show |
4 | a0001c0001t0002g0043 a0001c0004t0001g0006 a0001c0004t0001g0007 others(1): Show |
4 | HG01071.hp2 HG01074.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.3367+232_3367+245d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(29): Show |
1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3367+245_3367+246i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTATATAT others(25): Show |
1 | a0008c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3367+244_3367+245i others(34): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTGTA | 2 | a0002c0002t0001g0090 a0002c0002t0001g0111 |
2 | HG01192.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.3367+216_3367+217i others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | G | GTGTATA | 2 | a0001c0001t0007g0060 a0001c0005t0003g0194 |
2 | HG02145.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.3367+216_3367+217i others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | GTA | G | 3 | a0002c0002t0001g0085 a0002c0002t0001g0158 a0002c0021t0001g0165 |
3 | HG01516.hp1 HG02738.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3367+244_3367+245d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612023 | GTATA | G | 2 | a0001c0004t0001g0011 a0002c0002t0001g0109 |
2 | HG01516.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.3367+242_3367+245d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | ||||||
chr7:117612025 | A | G | 5 | a0001c0001t0002g0032 a0001c0001t0002g0076 a0001c0001t0002g0123 others(2): Show |
5 | HG02109.hp2 HG03130.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.3367+217A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612025 | |||||||
chr7:117612027 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+219A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612027 | |||||||
chr7:117612029 | A | G | 2 | a0001c0004t0003g0191 a0001c0005t0003g0197 |
2 | HG01496.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3367+221A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612029 | |||||||
chr7:117612031 | A | ATATATAT others(5): Show |
1 | a0001c0001t0002g0004 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3367+234_3367+235i others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612031 | ||||||
chr7:117612031 | A | G | 2 | a0001c0001t0004g0182 a0001c0005t0003g0197 |
2 | HG03209.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3367+223A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612031 | |||||||
chr7:117612033 | A | ATATATAT others(3): Show |
1 | a0001c0001t0002g0003 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3367+234_3367+235i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612033 | ||||||
chr7:117612033 | A | G | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3367+225A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612033 | |||||||
chr7:117612035 | A | G | 2 | a0001c0005t0003g0196 a0002c0002t0002g0146 |
2 | HG01258.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.3367+227A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612035 | |||||||
chr7:117612036 | TATATATA others(11): Show |
T | 4 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015 others(1): Show |
4 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+242_3367+259d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612036 | ||||||
chr7:117612037 | A | G | 2 | a0001c0006t0003g0142 a0002c0002t0002g0147 |
2 | HG02280.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3367+229A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612037 | |||||||
chr7:117612038 | TATATATA others(9): Show |
T | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3367+244_3367+259d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612038 | ||||||
chr7:117612045 | A | ATATATAT others(35): Show |
1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3367+245_3367+246i others(44): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612045 | ||||||
chr7:117612047 | A | G | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3367+239A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612047 | |||||||
chr7:117612049 | A | G | 3 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 |
3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3367+241A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612049 | |||||||
chr7:117612050 | TATACATA others(11): Show |
T | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3367+243_3367+260d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612050 | |||||||
chr7:117612051 | A | G | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3367+243A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612051 | |||||||
chr7:117612054 | C | T | 81 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(78): Show |
81 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(78): Show |
intron_variant | MODIFIER | c.3367+246C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612054 | |||||||
chr7:117612128 | C | G | 2 | a0001c0003t0003g0144 a0001c0003t0003g0145 |
2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.3367+320C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612128 | |||||||
chr7:117612142 | G | A | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3367+334G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612142 | |||||||
chr7:117612234 | T | TAC | 3 | a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0109 |
3 | HG02148.hp2 HG03669.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.3367+452_3367+453d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACAC | 12 | a0001c0001t0002g0195 a0001c0001t0004g0009 a0001c0001t0004g0018 others(9): Show |
12 | HG02258.hp1 HG02559.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.3367+448_3367+453d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACACA others(1): Show |
37 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(34): Show |
38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.3367+446_3367+453d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACACA others(3): Show |
7 | a0001c0001t0004g0182 a0001c0003t0003g0183 a0001c0005t0003g0194 others(4): Show |
7 | HG02145.hp1 HG02145.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.3367+444_3367+453d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACACA others(5): Show |
9 | a0001c0004t0002g0137 a0001c0004t0002g0186 a0001c0005t0003g0149 others(6): Show |
9 | HG01074.hp1 HG01192.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.3367+442_3367+453d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACACA others(7): Show |
1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3367+440_3367+453d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | T | TACACACA others(11): Show |
1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3367+436_3367+453d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612234 | TACAC | T | 3 | a0001c0001t0005g0047 a0001c0001t0005g0066 a0015c0018t0005g0028 |
3 | HG00642.hp1 NA18992.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.3367+450_3367+453d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | ||||||
chr7:117612354 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+546C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612354 | |||||||
chr7:117612713 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+905A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612713 | |||||||
chr7:117612737 | A | G | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+929A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612737 | |||||||
chr7:117612820 | G | A | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3367+1012G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612820 | |||||||
chr7:117612923 | A | G | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.3367+1115A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612923 | |||||||
chr7:117613309 | CA | C | 2 | a0001c0001t0002g0065 a0002c0002t0001g0107 |
2 | NA18978.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.3368-1302delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613309 | ||||||
chr7:117613481 | T | C | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3368-1132T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613481 | |||||||
chr7:117613533 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3368-1080A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613533 | |||||||
chr7:117613641 | G | T | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3368-972G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613641 | |||||||
chr7:117613997 | A | ATG | 5 | a0001c0004t0002g0124 a0001c0004t0002g0130 a0001c0004t0002g0132 others(2): Show |
5 | HG01074.hp1 HG01192.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-615_3368-614i others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613997 | ||||||
chr7:117613997 | A | ATGT | 5 | a0001c0004t0002g0115 a0001c0004t0002g0125 a0001c0004t0002g0128 others(2): Show |
5 | HG01433.hp1 HG02257.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-615_3368-614i others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613997 | ||||||
chr7:117613999 | C | CT | 36 | a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0044 others(33): Show |
36 | HG00609.hp2 HG00642.hp1 HG01175.hp2 others(33): Show |
intron_variant | MODIFIER | c.3368-589dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | ||||||
chr7:117613999 | C | CTT | 5 | a0001c0005t0003g0194 a0001c0006t0006g0005 a0002c0002t0001g0084 others(2): Show |
5 | HG01346.hp1 HG02145.hp2 HG04204.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-590_3368-589d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | ||||||
chr7:117613999 | C | T | 10 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(7): Show |
10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3368-614C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613999 | |||||||
chr7:117613999 | CT | C | 9 | a0001c0001t0004g0072 a0001c0001t0004g0126 a0001c0004t0002g0008 others(6): Show |
9 | HG00099.hp2 HG00140.hp2 HG02148.hp2 others(6): Show |
intron_variant | MODIFIER | c.3368-589delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | ||||||
chr7:117613999 | CTTTTTTT others(6): Show |
C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3368-601_3368-589d others(15): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | ||||||
chr7:117614244 | C | G | 2 | a0001c0005t0003g0196 a0001c0005t0003g0197 |
2 | HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3368-369C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614244 | |||||||
chr7:117614269 | T | C | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3368-344T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614269 | |||||||
chr7:117614473 | A | C | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3368-140A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614473 | |||||||
chr7:117614524 | G | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3368-89G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614524 | |||||||
chr7:117614893 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3468+180A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117614893 | |||||||
chr7:117615020 | A | G | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3468+307A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615020 | |||||||
chr7:117615216 | G | A | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+503G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615216 | |||||||
chr7:117615519 | C | G | 1 | a0001c0001t0002g0020 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.3468+806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615519 | |||||||
chr7:117615592 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+879A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615592 | |||||||
chr7:117615598 | T | C | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.3468+885T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615598 | |||||||
chr7:117615626 | G | A | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3468+913G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615626 | |||||||
chr7:117615648 | G | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3468+935G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615648 | |||||||
chr7:117615701 | C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3468+988C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615701 | |||||||
chr7:117615803 | A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3468+1090A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615803 | |||||||
chr7:117615954 | C | G | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+1241C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615954 | |||||||
chr7:117616235 | C | CT | 197 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(194): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.3468+1532dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117616235 | ||||||
chr7:117616294 | T | C | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+1581T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616294 | |||||||
chr7:117616320 | C | T | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3468+1607C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616320 | |||||||
chr7:117616508 | C | T | 16 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(13): Show |
16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3468+1795C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616508 | |||||||
chr7:117616658 | G | A | 13 | a0001c0003t0003g0001 a0001c0003t0003g0116 a0001c0003t0003g0134 others(10): Show |
14 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.3468+1945G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616658 | |||||||
chr7:117616704 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3468+1991T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616704 | |||||||
chr7:117616822 | T | C | 11 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(8): Show |
11 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.3468+2109T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616822 | |||||||
chr7:117616848 | A | T | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3468+2135A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616848 | |||||||
chr7:117616940 | G | A | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3468+2227G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616940 | |||||||
chr7:117617255 | T | C | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3468+2542T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617255 | |||||||
chr7:117617547 | C | T | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3468+2834C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617547 | |||||||
chr7:117617619 | A | G | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3468+2906A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617619 | |||||||
chr7:117617633 | C | T | 46 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(43): Show |
46 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(43): Show |
intron_variant | MODIFIER | c.3468+2920C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617633 | |||||||
chr7:117618056 | C | A | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.3468+3343C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618056 | |||||||
chr7:117618212 | A | G | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3468+3499A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618212 | |||||||
chr7:117618255 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3468+3542G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618255 | |||||||
chr7:117618318 | A | G | 118 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(115): Show |
119 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.3468+3605A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618318 | |||||||
chr7:117618475 | G | A | 127 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(124): Show |
128 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.3468+3762G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618475 | |||||||
chr7:117618478 | T | TCA | 49 | a0001c0001t0002g0063 a0001c0001t0002g0195 a0001c0001t0005g0025 others(46): Show |
50 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(47): Show |
intron_variant | MODIFIER | c.3468+3792_3468+379 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117618478 | ||||||
chr7:117618478 | T | TCACA | 3 | a0001c0001t0002g0042 a0001c0003t0003g0048 a0001c0003t0003g0134 |
3 | HG02683.hp1 HG04204.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.3468+3790_3468+379 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117618478 | ||||||
chr7:117618901 | A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3468+4188A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618901 | |||||||
chr7:117618957 | G | A | 125 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(122): Show |
126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3468+4244G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618957 | |||||||
chr7:117619143 | T | C | 4 | a0001c0003t0003g0116 a0001c0008t0003g0139 a0001c0008t0010g0133 others(1): Show |
4 | HG00323.hp1 HG01175.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+4430T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619143 | |||||||
chr7:117619233 | T | C | 1 | a0001c0005t0006g0038 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3468+4520T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619233 | |||||||
chr7:117619286 | A | G | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3468+4573A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619286 | |||||||
chr7:117619843 | A | G | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3468+5130A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619843 | |||||||
chr7:117619892 | C | T | 65 | a0001c0001t0002g0195 a0001c0001t0004g0009 a0001c0001t0004g0018 others(62): Show |
66 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.3468+5179C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619892 | |||||||
chr7:117619951 | C | T | 2 | a0002c0002t0001g0188 a0002c0002t0001g0189 |
2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3468+5238C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619951 | |||||||
chr7:117620074 | AT | A | 122 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(119): Show |
123 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.3468+5372delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117620074 | ||||||
chr7:117620180 | A | G | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3468+5467A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620180 | |||||||
chr7:117620249 | A | G | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+5536A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620249 | |||||||
chr7:117620317 | G | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+5604G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620317 | |||||||
chr7:117620408 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+5695C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620408 | |||||||
chr7:117620476 | C | T | 1 | a0008c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3468+5763C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620476 | |||||||
chr7:117620492 | C | A | 10 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(7): Show |
10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3468+5779C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620492 | |||||||
chr7:117620498 | A | G | 2 | a0001c0001t0002g0043 a0001c0001t0002g0045 |
2 | HG02027.hp2 NA18968.hp1 |
intron_variant | MODIFIER | c.3468+5785A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620498 | |||||||
chr7:117620666 | C | A | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3468+5953C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620666 | |||||||
chr7:117620699 | C | T | 1 | a0001c0005t0003g0149 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3468+5986C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620699 | |||||||
chr7:117620770 | G | T | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6057G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620770 | |||||||
chr7:117620797 | A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3468+6084A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620797 | |||||||
chr7:117620834 | C | T | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3468+6121C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620834 | |||||||
chr7:117620933 | C | G | 2 | a0001c0004t0002g0137 a0001c0004t0002g0186 |
2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3468+6220C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620933 | |||||||
chr7:117621034 | G | A | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6321G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621034 | |||||||
chr7:117621035 | G | A | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6322G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621035 | |||||||
chr7:117621096 | A | G | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+6383A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621096 | |||||||
chr7:117621234 | T | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-6288T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621234 | |||||||
chr7:117621239 | C | T | 125 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(122): Show |
126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3469-6283C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621239 | |||||||
chr7:117621317 | C | A | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3469-6205C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621317 | |||||||
chr7:117621368 | A | G | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3469-6154A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621368 | |||||||
chr7:117621648 | A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3469-5874A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621648 | |||||||
chr7:117621664 | G | C | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3469-5858G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621664 | |||||||
chr7:117622029 | C | T | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3469-5493C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622029 | |||||||
chr7:117622197 | C | T | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3469-5325C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622197 | |||||||
chr7:117622250 | G | A | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3469-5272G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622250 | |||||||
chr7:117622513 | T | C | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3469-5009T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622513 | |||||||
chr7:117623363 | G | C | 198 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.3469-4159G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117623363 | |||||||
chr7:117623620 | C | T | 16 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(13): Show |
16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3469-3902C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117623620 | |||||||
chr7:117624032 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-3490C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624032 | |||||||
chr7:117624072 | T | C | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3469-3450T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624072 | |||||||
chr7:117624325 | G | A | 14 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(11): Show |
14 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.3469-3197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624325 | |||||||
chr7:117624569 | C | T | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3469-2953C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624569 | |||||||
chr7:117624812 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3469-2710G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624812 | |||||||
chr7:117624964 | C | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3469-2558C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624964 | |||||||
chr7:117625020 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-2502G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625020 | |||||||
chr7:117625201 | T | C | 16 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(13): Show |
16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3469-2321T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625201 | |||||||
chr7:117625543 | G | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-1979G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625543 | |||||||
chr7:117625916 | C | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3469-1606C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625916 | |||||||
chr7:117625988 | C | A | 1 | a0001c0008t0010g0133 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3469-1534C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625988 | |||||||
chr7:117626148 | A | C | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3469-1374A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626148 | |||||||
chr7:117626441 | G | A | 4 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 others(1): Show |
4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3469-1081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626441 | |||||||
chr7:117626455 | G | T | 1 | a0004c0026t0002g0037 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.3469-1067G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626455 | |||||||
chr7:117626618 | C | T | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3469-904C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626618 | |||||||
chr7:117626787 | T | A | 2 | a0001c0001t0002g0195 a0005c0009t0001g0153 |
2 | HG02965.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3469-735T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626787 | |||||||
chr7:117626788 | A | T | 3 | a0001c0001t0002g0058 a0001c0003t0003g0114 a0001c0003t0003g0183 |
3 | HG02145.hp1 HG02723.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.3469-734A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626788 | |||||||
chr7:117627185 | G | A | 10 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(7): Show |
10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3469-337G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627185 | |||||||
chr7:117627457 | C | A | 37 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(34): Show |
38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.3469-65C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627457 | |||||||
chr7:117627502 | T | C | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3469-20T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627502 | |||||||
chr7:117627958 | A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3717+188A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117627958 | |||||||
chr7:117628142 | A | G | 1 | a0005c0009t0001g0154 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3717+372A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628142 | |||||||
chr7:117628536 | G | T | 4 | a0001c0005t0003g0149 a0001c0005t0003g0156 a0001c0006t0003g0015 others(1): Show |
4 | HG02683.hp2 HG02818.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.3717+766G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628536 | |||||||
chr7:117628981 | A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3717+1211A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628981 | |||||||
chr7:117629266 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+1496G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629266 | |||||||
chr7:117629652 | G | A | 2 | a0001c0004t0002g0137 a0001c0004t0002g0186 |
2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3717+1882G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629652 | |||||||
chr7:117629741 | T | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+1971T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629741 | |||||||
chr7:117629855 | C | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2085C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629855 | |||||||
chr7:117630127 | C | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2357C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630127 | |||||||
chr7:117630518 | A | G | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2748A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630518 | |||||||
chr7:117630692 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+2922T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630692 | |||||||
chr7:117630788 | C | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+3018C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630788 | |||||||
chr7:117631303 | C | T | 1 | a0001c0001t0002g0151 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3717+3533C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631303 | |||||||
chr7:117631576 | C | G | 4 | a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0054 others(1): Show |
4 | HG02148.hp1 NA18947.hp2 NA19065.hp2 others(1): Show |
intron_variant | MODIFIER | c.3717+3806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631576 | |||||||
chr7:117631657 | A | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3717+3887A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631657 | |||||||
chr7:117632125 | C | G | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3717+4355C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632125 | |||||||
chr7:117632155 | G | C | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.3717+4385G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632155 | |||||||
chr7:117632310 | A | C | 2 | a0001c0001t0002g0195 a0002c0020t0002g0079 |
2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3717+4540A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632310 | |||||||
chr7:117632506 | C | T | 2 | a0003c0007t0001g0166 a0003c0007t0001g0167 |
2 | NA18947.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.3717+4736C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632506 | |||||||
chr7:117633267 | G | A | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+5497G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633267 | |||||||
chr7:117633349 | G | A | 18 | a0001c0004t0003g0191 a0001c0005t0003g0149 a0001c0005t0003g0150 others(15): Show |
18 | HG01346.hp1 HG01496.hp1 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.3717+5579G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633349 | |||||||
chr7:117633358 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3717+5588A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633358 | |||||||
chr7:117633750 | T | C | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3717+5980T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633750 | |||||||
chr7:117633892 | C | T | 2 | a0001c0001t0001g0068 a0010c0025t0001g0172 |
2 | HG02056.hp1 HG02056.hp2 |
intron_variant | MODIFIER | c.3717+6122C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633892 | |||||||
chr7:117633916 | T | G | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+6146T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633916 | |||||||
chr7:117633944 | T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+6174T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633944 | |||||||
chr7:117634202 | G | A | 25 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(22): Show |
26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.3717+6432G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634202 | |||||||
chr7:117634227 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+6457G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634227 | |||||||
chr7:117634265 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3717+6495C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634265 | |||||||
chr7:117634414 | G | A | 8 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 others(5): Show |
8 | HG00609.hp2 HG03669.hp2 HG04199.hp2 others(5): Show |
intron_variant | MODIFIER | c.3717+6644G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634414 | |||||||
chr7:117634547 | G | A | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3717+6777G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634547 | |||||||
chr7:117634995 | T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3717+7225T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634995 | |||||||
chr7:117635051 | T | C | 2 | a0001c0001t0002g0120 a0001c0001t0002g0179 |
2 | HG02451.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3717+7281T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635051 | |||||||
chr7:117635334 | A | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-7104A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635334 | |||||||
chr7:117635448 | A | T | 3 | a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0164 |
3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.3718-6990A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635448 | |||||||
chr7:117635869 | A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3718-6569A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635869 | |||||||
chr7:117635898 | A | C | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6540A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635898 | |||||||
chr7:117635995 | G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3718-6443G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635995 | |||||||
chr7:117636017 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6421T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636017 | |||||||
chr7:117636084 | C | T | 1 | a0001c0001t0002g0042 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3718-6354C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636084 | |||||||
chr7:117636114 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6324T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636114 | |||||||
chr7:117636164 | C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-6274C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636164 | |||||||
chr7:117636348 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-6090C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636348 | |||||||
chr7:117636491 | T | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3718-5947T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636491 | |||||||
chr7:117636554 | G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3718-5884G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636554 | |||||||
chr7:117636848 | C | T | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3718-5590C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636848 | |||||||
chr7:117636910 | T | TGGGTTCA others(24): Show |
2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3718-5527_3718-549 others(35): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117636910 | ||||||
chr7:117636957 | C | T | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3718-5481C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636957 | |||||||
chr7:117637222 | G | GT | 102 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(99): Show |
103 | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(100): Show |
intron_variant | MODIFIER | c.3718-5203dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117637222 | ||||||
chr7:117637222 | G | GTT | 19 | a0001c0001t0002g0179 a0001c0001t0004g0009 a0001c0001t0004g0018 others(16): Show |
19 | HG01346.hp1 HG01891.hp2 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.3718-5204_3718-520 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117637222 | ||||||
chr7:117637336 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-5102G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637336 | |||||||
chr7:117637569 | A | G | 17 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(14): Show |
17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3718-4869A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637569 | |||||||
chr7:117637674 | C | T | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.3718-4764C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637674 | |||||||
chr7:117637872 | G | A | 25 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(22): Show |
26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.3718-4566G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637872 | |||||||
chr7:117638463 | G | A | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3718-3975G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638463 | |||||||
chr7:117638474 | G | A | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-3964G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638474 | |||||||
chr7:117638511 | G | A | 11 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(8): Show |
11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3718-3927G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638511 | |||||||
chr7:117638693 | G | A | 2 | a0001c0003t0003g0021 a0001c0003t0003g0040 |
2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.3718-3745G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638693 | |||||||
chr7:117638711 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-3727G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638711 | |||||||
chr7:117638736 | C | CATAA | 28 | a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0120 others(25): Show |
29 | HG00323.hp1 HG00642.hp2 HG01123.hp1 others(26): Show |
intron_variant | MODIFIER | c.3718-3673_3718-367 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | ||||||
chr7:117638736 | C | CATAAATA others(1): Show |
5 | a0001c0001t0002g0195 a0001c0003t0003g0180 a0001c0003t0003g0181 others(2): Show |
5 | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.3718-3677_3718-367 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | ||||||
chr7:117638736 | C | CATAAATA others(5): Show |
12 | a0001c0003t0003g0145 a0001c0004t0003g0191 a0001c0005t0003g0149 others(9): Show |
12 | HG01496.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3718-3681_3718-367 others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | ||||||
chr7:117638736 | CATAA | C | 6 | a0001c0004t0002g0002 a0001c0005t0006g0038 a0001c0006t0006g0005 others(3): Show |
6 | HG01346.hp1 HG01891.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3718-3673_3718-367 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | ||||||
chr7:117638767 | AAT | A | 9 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(6): Show |
9 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.3718-3669_3718-366 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638767 | ||||||
chr7:117638772 | A | T | 9 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(6): Show |
9 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.3718-3666A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638772 | |||||||
chr7:117638780 | A | AT | 10 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(7): Show |
10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3718-3658_3718-365 others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638780 | |||||||
chr7:117638783 | T | A | 10 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(7): Show |
10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3718-3655T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638783 | |||||||
chr7:117639001 | G | C | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3718-3437G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639001 | |||||||
chr7:117639093 | G | A | 11 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(8): Show |
11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3718-3345G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639093 | |||||||
chr7:117639346 | A | T | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3718-3092A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639346 | |||||||
chr7:117639451 | T | G | 1 | a0002c0002t0001g0090 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.3718-2987T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639451 | |||||||
chr7:117639672 | T | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-2766T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639672 | |||||||
chr7:117639676 | A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-2762A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639676 | |||||||
chr7:117639908 | A | G | 2 | a0001c0004t0002g0137 a0001c0004t0002g0186 |
2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3718-2530A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639908 | |||||||
chr7:117639933 | T | C | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3718-2505T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639933 | |||||||
chr7:117640115 | A | C | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3718-2323A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640115 | |||||||
chr7:117640459 | A | T | 1 | a0001c0001t0002g0071 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3718-1979A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640459 | |||||||
chr7:117640511 | C | T | 3 | a0001c0003t0003g0141 a0001c0003t0003g0187 a0001c0003t0003g0190 |
3 | HG02451.hp1 HG02647.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.3718-1927C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640511 | |||||||
chr7:117640535 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-1903C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640535 | |||||||
chr7:117640539 | C | G | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1899C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640539 | |||||||
chr7:117640762 | G | C | 12 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(9): Show |
12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3718-1676G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640762 | |||||||
chr7:117640836 | C | A | 3 | a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0157 |
3 | NA18968.hp2 NA18982.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.3718-1602C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640836 | |||||||
chr7:117640877 | C | G | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1561C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640877 | |||||||
chr7:117641122 | TGAAAATC others(3): Show |
T | 2 | a0001c0001t0002g0023 a0011c0028t0002g0031 |
2 | HG02523.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.3718-1315_3718-130 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641122 | |||||||
chr7:117641178 | G | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1260G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641178 | |||||||
chr7:117641260 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1178T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641260 | |||||||
chr7:117641321 | A | G | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-1117A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641321 | |||||||
chr7:117642067 | G | A | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-371G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642067 | |||||||
chr7:117642365 | T | C | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3718-73T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642365 | |||||||
chr7:117642369 | A | T | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3718-69A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642369 | |||||||
chr7:117642397 | C | G | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3718-41C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642397 | |||||||
chr7:117642414 | G | A | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3718-24G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642414 | |||||||
chr7:117642677 | A | G | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3873+84A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642677 | |||||||
chr7:117642710 | T | G | 12 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(9): Show |
12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3873+117T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642710 | |||||||
chr7:117642793 | A | G | 5 | a0001c0001t0001g0056 a0002c0002t0001g0080 a0002c0002t0001g0093 others(2): Show |
5 | HG01123.hp2 HG01943.hp1 HG02523.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+200A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642793 | |||||||
chr7:117643205 | A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3873+612A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643205 | |||||||
chr7:117643380 | A | G | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3873+787A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643380 | |||||||
chr7:117643436 | G | A | 1 | a0001c0001t0002g0044 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.3873+843G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643436 | |||||||
chr7:117643785 | T | C | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+1192T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643785 | |||||||
chr7:117643957 | C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3873+1364C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643957 | |||||||
chr7:117644060 | C | CT | 10 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(7): Show |
10 | HG02723.hp2 HG02738.hp1 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.3873+1477dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117644060 | ||||||
chr7:117644157 | C | A | 5 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(2): Show |
5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+1564C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644157 | |||||||
chr7:117644188 | A | T | 10 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(7): Show |
10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.3873+1595A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644188 | |||||||
chr7:117644262 | T | A | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3873+1669T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644262 | |||||||
chr7:117644420 | G | GA | 8 | a0001c0001t0004g0018 a0001c0001t0004g0072 a0001c0001t0004g0118 others(5): Show |
8 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.3873+1837dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117644420 | ||||||
chr7:117644429 | A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3873+1836A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644429 | |||||||
chr7:117644479 | T | C | 17 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(14): Show |
17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3873+1886T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644479 | |||||||
chr7:117644578 | G | T | 1 | a0001c0003t0003g0113 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3873+1985G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644578 | |||||||
chr7:117644785 | A | G | 2 | a0001c0003t0003g0021 a0001c0003t0003g0040 |
2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.3873+2192A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644785 | |||||||
chr7:117644818 | T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3873+2225T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644818 | |||||||
chr7:117644819 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3873+2226G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644819 | |||||||
chr7:117645016 | G | A | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+2423G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645016 | |||||||
chr7:117645117 | G | A | 1 | a0002c0002t0001g0083 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3873+2524G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645117 | |||||||
chr7:117645180 | A | G | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3873+2587A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645180 | |||||||
chr7:117645225 | C | T | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3873+2632C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645225 | |||||||
chr7:117645297 | A | G | 17 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 others(14): Show |
17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3873+2704A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645297 | |||||||
chr7:117645480 | A | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3873+2887A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645480 | |||||||
chr7:117645521 | CCAAGCCC others(13): Show |
C | 1 | a0001c0004t0001g0010 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3873+2930_3873+294 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117645521 | ||||||
chr7:117645530 | G | A | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3873+2937G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645530 | |||||||
chr7:117645839 | T | TAAGAAAG others(303): Show |
1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3873+3255_3873+325 others(314): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117645839 | ||||||
chr7:117645994 | G | A | 1 | a0001c0001t0002g0121 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3873+3401G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645994 | |||||||
chr7:117646153 | C | A | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3873+3560C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117646153 | |||||||
chr7:117646470 | G | A | 125 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(122): Show |
126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3873+3877G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117646470 | |||||||
chr7:117647124 | A | T | 12 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(9): Show |
12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3873+4531A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647124 | |||||||
chr7:117647423 | T | C | 198 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(195): Show |
199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.3873+4830T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647423 | |||||||
chr7:117647444 | G | T | 2 | a0001c0001t0002g0176 a0001c0001t0002g0177 |
2 | HG01243.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.3873+4851G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647444 | |||||||
chr7:117647568 | C | T | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+4975C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647568 | |||||||
chr7:117647580 | A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3873+4987A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647580 | |||||||
chr7:117647601 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3873+5008G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647601 | |||||||
chr7:117647679 | CA | C | 121 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(118): Show |
122 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.3873+5101delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117647679 | ||||||
chr7:117647694 | A | T | 4 | a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015 others(1): Show |
4 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.3873+5101A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647694 | |||||||
chr7:117647864 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3874-4978G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647864 | |||||||
chr7:117648003 | A | AGT | 5 | a0001c0001t0002g0179 a0001c0004t0003g0191 a0001c0006t0003g0193 others(2): Show |
5 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874-4818_3874-481 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117648003 | ||||||
chr7:117648024 | G | A | 27 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(24): Show |
28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.3874-4818G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648024 | |||||||
chr7:117648026 | A | G | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-4816A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648026 | |||||||
chr7:117648060 | T | A | 11 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(8): Show |
11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3874-4782T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648060 | |||||||
chr7:117648069 | G | GTA | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-4761_3874-476 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117648069 | ||||||
chr7:117648126 | C | G | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3874-4716C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648126 | |||||||
chr7:117648254 | G | C | 3 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3874-4588G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648254 | |||||||
chr7:117648702 | A | T | 2 | a0001c0001t0002g0195 a0002c0020t0002g0079 |
2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-4140A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648702 | |||||||
chr7:117648996 | C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3874-3846C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648996 | |||||||
chr7:117649037 | T | C | 1 | a0001c0001t0002g0030 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3874-3805T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649037 | |||||||
chr7:117649277 | G | GGT | 5 | a0001c0001t0002g0065 a0001c0003t0003g0180 a0001c0003t0003g0181 others(2): Show |
5 | HG01070.hp1 HG01071.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874-3565_3874-356 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | |||||||
chr7:117649277 | GAT | G | 12 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(9): Show |
12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3874-3564_3874-356 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | |||||||
chr7:117649277 | GATGT | G | 6 | a0001c0001t0004g0009 a0001c0004t0002g0140 a0001c0005t0003g0149 others(3): Show |
6 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.3874-3564_3874-356 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | |||||||
chr7:117649278 | A | G | 109 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(106): Show |
110 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.3874-3564A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649278 | |||||||
chr7:117649304 | A | G | 1 | a0002c0002t0001g0158 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.3874-3538A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649304 | |||||||
chr7:117649316 | G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3874-3526G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649316 | |||||||
chr7:117649362 | A | G | 1 | a0002c0002t0001g0171 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.3874-3480A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649362 | |||||||
chr7:117649485 | G | T | 126 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(123): Show |
127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.3874-3357G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649485 | |||||||
chr7:117649486 | T | A | 126 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(123): Show |
127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.3874-3356T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649486 | |||||||
chr7:117649495 | GTGTA | G | 10 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 others(7): Show |
10 | HG02145.hp2 HG02258.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.3874-3345_3874-334 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649495 | ||||||
chr7:117649497 | G | A | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3874-3345G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649497 | |||||||
chr7:117649497 | G | GTA | 3 | a0002c0002t0001g0073 a0002c0002t0001g0099 a0002c0002t0001g0111 |
3 | HG01192.hp1 HG02165.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.3874-3323_3874-332 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | ||||||
chr7:117649497 | GTA | G | 11 | a0001c0003t0003g0134 a0001c0004t0001g0006 a0001c0004t0001g0007 others(8): Show |
11 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(8): Show |
intron_variant | MODIFIER | c.3874-3323_3874-332 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | ||||||
chr7:117649497 | GTATA | G | 57 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(54): Show |
57 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.3874-3325_3874-332 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | ||||||
chr7:117649499 | A | G | 13 | a0001c0001t0004g0018 a0001c0001t0004g0072 a0001c0001t0004g0118 others(10): Show |
13 | HG02280.hp2 HG02683.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.3874-3343A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649499 | |||||||
chr7:117649501 | A | G | 2 | a0001c0005t0003g0149 a0001c0005t0003g0150 |
2 | HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3874-3341A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649501 | |||||||
chr7:117649514 | TA | T | 4 | a0001c0001t0002g0195 a0001c0001t0004g0009 a0002c0020t0002g0079 others(1): Show |
4 | HG02630.hp1 HG06807.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3874-3327delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649514 | |||||||
chr7:117649515 | A | T | 15 | a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 others(12): Show |
15 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(12): Show |
intron_variant | MODIFIER | c.3874-3327A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649515 | |||||||
chr7:117649516 | TA | T | 27 | a0001c0001t0002g0003 a0001c0001t0002g0058 a0001c0001t0004g0072 others(24): Show |
28 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.3874-3325delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649516 | |||||||
chr7:117649517 | A | T | 36 | a0001c0001t0002g0045 a0001c0001t0002g0063 a0001c0001t0002g0123 others(33): Show |
36 | HG01074.hp1 HG01192.hp2 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.3874-3325A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649517 | |||||||
chr7:117649518 | TA | T | 4 | a0001c0001t0002g0004 a0001c0003t0003g0178 a0001c0004t0002g0008 others(1): Show |
4 | HG01123.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.3874-3323delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649518 | |||||||
chr7:117649519 | A | T | 136 | a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0022 others(133): Show |
137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.3874-3323A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649519 | |||||||
chr7:117649620 | G | T | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-3222G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649620 | |||||||
chr7:117649831 | G | A | 5 | a0001c0005t0006g0038 a0001c0006t0006g0005 a0001c0006t0006g0013 others(2): Show |
5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-3011G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649831 | |||||||
chr7:117649937 | A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3874-2905A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649937 | |||||||
chr7:117649956 | C | T | 2 | a0001c0001t0002g0195 a0002c0020t0002g0079 |
2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-2886C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649956 | |||||||
chr7:117650007 | A | T | 10 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(7): Show |
10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.3874-2835A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650007 | |||||||
chr7:117650113 | C | T | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3874-2729C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650113 | |||||||
chr7:117650204 | C | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3874-2638C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650204 | |||||||
chr7:117650407 | A | G | 3 | a0001c0006t0003g0193 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3874-2435A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650407 | |||||||
chr7:117650576 | T | A | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3874-2266T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650576 | |||||||
chr7:117651037 | C | G | 1 | a0001c0003t0003g0183 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3874-1805C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651037 | |||||||
chr7:117651078 | A | G | 1 | a0008c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3874-1764A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651078 | |||||||
chr7:117651217 | T | A | 2 | a0001c0001t0002g0195 a0002c0020t0002g0079 |
2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-1625T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651217 | |||||||
chr7:117651307 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3874-1535A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651307 | |||||||
chr7:117651313 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3874-1529G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651313 | |||||||
chr7:117651455 | C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3874-1387C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651455 | |||||||
chr7:117651582 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3874-1260C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651582 | |||||||
chr7:117651679 | TTC | T | 5 | a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 others(2): Show |
5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-1161_3874-116 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117651679 | ||||||
chr7:117652026 | C | G | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3874-816C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652026 | |||||||
chr7:117652197 | A | T | 2 | a0001c0001t0004g0135 a0001c0001t0004g0138 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3874-645A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652197 | |||||||
chr7:117652282 | C | T | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-560C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652282 | |||||||
chr7:117652543 | A | G | 3 | a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0185 |
3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.3874-299A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652543 | |||||||
chr7:117652642 | G | A | 39 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(36): Show |
40 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.3874-200G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652642 | |||||||
chr7:117653039 | A | T | 1 | a0002c0002t0001g0111 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.3963+108A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653039 | |||||||
chr7:117653498 | T | G | 38 | a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show |
39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3963+567T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653498 | |||||||
chr7:117653627 | G | A | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3963+696G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653627 | |||||||
chr7:117653901 | C | T | 1 | a0001c0001t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3963+970C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653901 | |||||||
chr7:117654073 | C | G | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3963+1142C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654073 | |||||||
chr7:117654247 | C | T | 31 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(28): Show |
32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.3963+1316C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654247 | |||||||
chr7:117654275 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+1344C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654275 | |||||||
chr7:117654423 | G | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3963+1492G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654423 | |||||||
chr7:117654484 | AT | A | 3 | a0001c0005t0003g0149 a0001c0006t0003g0015 a0012c0024t0003g0148 |
3 | HG02683.hp2 HG02818.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3963+1556delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117654484 | ||||||
chr7:117654542 | G | A | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3963+1611G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654542 | |||||||
chr7:117654676 | C | T | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3963+1745C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654676 | |||||||
chr7:117654808 | C | T | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.3963+1877C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654808 | |||||||
chr7:117655030 | G | C | 2 | a0001c0004t0001g0010 a0001c0004t0001g0011 |
2 | HG01516.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3963+2099G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655030 | |||||||
chr7:117655140 | A | C | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3963+2209A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655140 | |||||||
chr7:117655184 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+2253C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655184 | |||||||
chr7:117655321 | G | A | 5 | a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0092 others(2): Show |
5 | HG00099.hp2 HG00140.hp2 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.3963+2390G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655321 | |||||||
chr7:117655606 | G | C | 1 | a0002c0002t0001g0107 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.3963+2675G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655606 | |||||||
chr7:117655643 | C | A | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.3963+2712C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655643 | |||||||
chr7:117655884 | A | G | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3963+2953A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655884 | |||||||
chr7:117656115 | T | C | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3963+3184T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656115 | |||||||
chr7:117656539 | C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+3608C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656539 | |||||||
chr7:117656576 | G | T | 26 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(23): Show |
27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.3963+3645G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656576 | |||||||
chr7:117656794 | T | G | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3963+3863T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656794 | |||||||
chr7:117657128 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+4197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657128 | |||||||
chr7:117657472 | G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3963+4541G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657472 | |||||||
chr7:117657983 | G | C | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3963+5052G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657983 | |||||||
chr7:117658020 | G | C | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.3963+5089G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658020 | |||||||
chr7:117658237 | C | T | 12 | a0001c0001t0002g0195 a0001c0004t0002g0115 a0001c0004t0002g0124 others(9): Show |
12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3963+5306C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658237 | |||||||
chr7:117658892 | T | C | 1 | a0001c0004t0001g0011 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.3964-5796T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658892 | |||||||
chr7:117659159 | C | T | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.3964-5529C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659159 | |||||||
chr7:117659241 | C | T | 1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3964-5447C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659241 | |||||||
chr7:117659544 | T | C | 2 | a0001c0001t0002g0195 a0002c0020t0002g0079 |
2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3964-5144T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659544 | |||||||
chr7:117659616 | T | G | 1 | a0001c0001t0002g0029 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3964-5072T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659616 | |||||||
chr7:117659644 | C | G | 4 | a0003c0007t0001g0100 a0003c0007t0001g0166 a0003c0007t0001g0167 others(1): Show |
4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.3964-5044C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659644 | |||||||
chr7:117660030 | AT | A | 41 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(38): Show |
42 | HG00323.hp1 HG00642.hp2 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-4645delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660030 | ||||||
chr7:117660134 | A | C | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-4554A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660134 | |||||||
chr7:117660205 | C | G | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-4483C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660205 | |||||||
chr7:117660433 | A | C | 13 | a0001c0001t0002g0195 a0001c0004t0002g0008 a0001c0004t0002g0115 others(10): Show |
13 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.3964-4255A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660433 | |||||||
chr7:117660666 | A | ATG | 65 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(62): Show |
65 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.3964-4000_3964-399 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660666 | ||||||
chr7:117660688 | G | A | 31 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(28): Show |
32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.3964-4000G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660688 | |||||||
chr7:117660796 | CTGTT | C | 3 | a0001c0001t0002g0036 a0001c0006t0003g0198 a0001c0019t0003g0192 |
3 | HG02129.hp2 HG02258.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3964-3882_3964-387 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660796 | ||||||
chr7:117661017 | G | A | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3964-3671G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661017 | |||||||
chr7:117661195 | A | G | 4 | a0001c0001t0002g0076 a0001c0001t0002g0120 a0001c0001t0002g0123 others(1): Show |
4 | HG02109.hp2 HG02451.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.3964-3493A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661195 | |||||||
chr7:117661240 | T | C | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3964-3448T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661240 | |||||||
chr7:117661274 | G | A | 4 | a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0110 others(1): Show |
4 | HG00099.hp2 HG00140.hp2 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.3964-3414G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661274 | |||||||
chr7:117661410 | A | C | 2 | a0001c0005t0003g0150 a0001c0006t0003g0193 |
2 | HG02559.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3964-3278A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661410 | |||||||
chr7:117661412 | C | A | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3964-3276C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661412 | |||||||
chr7:117661876 | C | T | 2 | a0001c0003t0003g0141 a0001c0003t0003g0190 |
2 | HG02451.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3964-2812C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661876 | |||||||
chr7:117661983 | G | GA | 17 | a0001c0001t0001g0053 a0001c0004t0001g0006 a0001c0004t0001g0007 others(14): Show |
17 | HG00609.hp1 HG01071.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.3964-2682dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | ||||||
chr7:117661983 | GAA | G | 28 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0045 others(25): Show |
28 | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.3964-2683_3964-268 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | ||||||
chr7:117661983 | GAAA | G | 83 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(80): Show |
84 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.3964-2684_3964-268 others(7): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | ||||||
chr7:117661983 | GAAAA | G | 11 | a0001c0004t0002g0002 a0001c0004t0002g0008 a0001c0005t0003g0194 others(8): Show |
11 | HG01346.hp1 HG01891.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.3964-2685_3964-268 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | ||||||
chr7:117662566 | C | T | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3964-2122C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662566 | |||||||
chr7:117662627 | CA | C | 12 | a0001c0001t0002g0195 a0001c0004t0002g0115 a0001c0004t0002g0124 others(9): Show |
12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3964-2060delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662627 | |||||||
chr7:117662668 | G | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3964-2020G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662668 | |||||||
chr7:117662739 | G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3964-1949G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662739 | |||||||
chr7:117662856 | A | C | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3964-1832A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662856 | |||||||
chr7:117663091 | C | A | 41 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(38): Show |
42 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-1597C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663091 | |||||||
chr7:117663189 | G | T | 41 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(38): Show |
42 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-1499G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663189 | |||||||
chr7:117663278 | A | G | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.3964-1410A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663278 | |||||||
chr7:117663338 | T | A | 1 | a0002c0002t0001g0108 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3964-1350T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663338 | |||||||
chr7:117663392 | C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3964-1296C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663392 | |||||||
chr7:117663509 | TA | T | 104 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(101): Show |
105 | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(102): Show |
intron_variant | MODIFIER | c.3964-1161delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117663509 | ||||||
chr7:117663510 | A | T | 2 | a0001c0005t0003g0150 a0001c0006t0003g0193 |
2 | HG02559.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3964-1178A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663510 | |||||||
chr7:117663597 | G | A | 3 | a0001c0001t0002g0034 a0001c0001t0002g0117 a0009c0012t0002g0033 |
3 | HG00099.hp1 HG01993.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.3964-1091G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663597 | |||||||
chr7:117663882 | C | G | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3964-806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663882 | |||||||
chr7:117664298 | G | A | 12 | a0001c0001t0002g0195 a0001c0004t0002g0115 a0001c0004t0002g0124 others(9): Show |
12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3964-390G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664298 | |||||||
chr7:117664301 | A | G | 3 | a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 |
3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3964-387A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664301 | |||||||
chr7:117664405 | T | C | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-283T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664405 | |||||||
chr7:117664500 | G | T | 1 | a0001c0006t0006g0014 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3964-188G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664500 | |||||||
chr7:117664535 | T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3964-153T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664535 | |||||||
chr7:117664628 | A | T | 1 | a0001c0003t0003g0040 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.3964-60A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664628 | |||||||
chr7:117664908 | C | A | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.4136+48C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117664908 | |||||||
chr7:117665097 | C | T | 59 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 others(56): Show |
59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.4136+237C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665097 | |||||||
chr7:117665263 | G | A | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4137-196G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665263 | |||||||
chr7:117665320 | G | A | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.4137-139G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665320 | |||||||
chr7:117665370 | A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4137-89A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665370 | |||||||
chr7:117665577 | A | G | 2 | a0002c0002t0001g0086 a0002c0002t0001g0160 |
2 | HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.4242+13A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665577 | |||||||
chr7:117665756 | G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.4242+192G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665756 | |||||||
chr7:117665762 | T | C | 42 | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(39): Show |
43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.4242+198T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665762 | |||||||
chr7:117665958 | C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4242+394C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665958 | |||||||
chr7:117666096 | C | T | 9 | a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0072 others(6): Show |
9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.4242+532C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666096 | |||||||
chr7:117666334 | G | T | 2 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4243-574G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666334 | |||||||
chr7:117666855 | C | T | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.4243-53C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666855 | |||||||
chr7:117666903 | C | T | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | splice_region_variant&intron_variant | LOW | c.4243-5C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666903 |