regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | 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 | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp2 NA18955.hp2 NA18968.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(1): Show | 4 | 414 | 0.0097 | -16 | c.-12 others(27): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01123.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0060a0001c0001t0001g0169a0001c0001t0001g0229others(27): Show | 30 | 418 | 0.0718 | -16 | c.128 others(33): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD1_chr10_73777048_73788652 | 73786345 | TGCGCGCG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 342 | 0.0029 | -16 | c.*31 others(27): Show |
CHCHD1 | ENSG00000172586.8 | transcript | ENST00000372833.6 | protein_coding | 2694 | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132799007 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(117): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0037others(117): Show | 120 | 310 | 0.3871 | -16 | c.525 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01070.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0051others(35): Show | 38 | 310 | 0.1226 | -16 | c.525 others(35): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047a0001c0001t0001g0067a0001c0001t0001g0104others(44): Show | 47 | 310 | 0.1516 | -16 | c.453 others(33): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133050340 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0309 | 2 | 310 | 0.0065 | -16 | c.169 others(35): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
CHCHD4_chr3_14107077_14129870 | 14120383 | CAGCCACG others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02155.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0001g0054others(1): Show | 15 | 416 | 0.0361 | -16 | c.23- others(31): Show |
CHCHD4 | ENSG00000163528.13 | transcript | ENST00000396914.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126737390 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 216 | 0.0278 | -16 | c.411 others(33): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126860299 | TGAGTGAG others(9): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 216 | 0.0046 | -16 | c.495 others(33): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | 216 | 0.0093 | -16 | c.496 others(33): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1_chr5_98848985_98934007 | 98871369 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0051 | 1 | 334 | 0.0030 | -16 | c.386 others(33): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 28/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883847 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049a0001c0003t0002g0050 | 2 | 334 | 0.0060 | -16 | c.256 others(33): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92912764 | GACCTCGT others(9): Show |
G | intron_variant | MODIFIER | HG03492.hp2 HG03710.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0001t0001g0209 | 3 | 306 | 0.0098 | -16 | c.62+ others(33): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92912769 | CGTGATCC others(9): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 306 | 0.0033 | -16 | c.62+ others(33): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92998961 | GTAATCCC others(9): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0182 | 1 | 306 | 0.0033 | -16 | c.400 others(33): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93013928 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009a0001c0016 | a0001c0001t0001a0001c0009t0002a0001c0009t0012others(1): Show | a0001c0001t0001g0007a0001c0009t0002g0043a0001c0009t0002g0048others(2): Show | 5 | 306 | 0.0163 | -16 | c.469 others(33): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7900187 | CCTGAGTG others(9): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02602.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0014a0001c0001t0003g0099a0001c0004t0003g0014others(8): Show | 13 | 366 | 0.0355 | -16 | c.268 others(31): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 16/39 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHD4_chr12_6565082_6612379 | 6607668 | CCCAACAC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0286 | 1 | 374 | 0.0027 | -16 | c.-46 others(25): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 290 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18997.hp1 NA19010.hp2 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018a0001c0003t0003g0096a0001c0003t0003g0101 | 3 | 374 | 0.0080 | -16 | c.-46 others(25): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6150367 | AGGATGGA others(9): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 HG03195.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0021a0002c0002 | a0001c0005t0006a0001c0005t0057a0001c0021t0005others(2): Show | a0001c0005t0006g0202a0001c0005t0057g0093a0001c0021t0005g0026others(3): Show | 6 | 320 | 0.0188 | -16 | c.994 others(31): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | 324 | 0.0062 | -16 | c.612 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498803 | ATGTATGT others(9): Show |
A | intron_variant | MODIFIER | NA18946.hp2 NA19065.hp1 |
a0008 | a0008c0011 | a0008c0011t0008 | a0008c0011t0008g0006a0008c0011t0008g0007 | 2 | 324 | 0.0062 | -16 | c.915 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATGT others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(111): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0321others(111): Show | 114 | 324 | 0.3519 | -16 | c.915 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60714412 | CCCCCCCC others(9): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 | 1 | 236 | 0.0042 | -16 | c.-17 others(37): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60799701 | TGTTAAAA others(9): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
a0001a0006a0010others(2): Show | a0001c0006a0001c0018a0001c0019others(6): Show | a0001c0006t0006a0001c0006t0016a0001c0018t0005others(7): Show | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | 236 | 0.0424 | -16 | c.223 others(33): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60823394 | TATAGATA others(9): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0099 | 1 | 236 | 0.0042 | -16 | c.320 others(33): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 260 | 0.0039 | -16 | c.-18 others(27): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53038475 | GTAGTAGC others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(255): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(139): Show | 258 | 406 | 0.6355 | -16 | c.*55 others(27): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 3008 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53045718 | CCTTCTTG others(9): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0202 | 1 | 406 | 0.0025 | -16 | c.-10 others(35): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53050890 | ACCCTCTT others(9): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0188 | 1 | 406 | 0.0025 | -16 | c.-18 others(35): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01081.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0003a0001c0001t0002g0084a0001c0001t0002g0091others(21): Show | 49 | 406 | 0.1207 | -16 | c.-18 others(33): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01109.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0160a0001c0001t0003g0131a0001c0001t0003g0133others(30): Show | 33 | 238 | 0.1387 | -16 | c.-34 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53070489 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 238 | 0.0042 | -16 | c.-16 others(37): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53082200 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0177 | 1 | 238 | 0.0042 | -16 | c.-16 others(37): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53097354 | CCCTTCCT others(9): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0032 | 1 | 238 | 0.0042 | -16 | c.-16 others(37): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53108511 | TATAGATA others(9): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18999.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0098a0003c0004t0006g0190 | 2 | 238 | 0.0084 | -16 | c.-16 others(37): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53143358 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0232 | 1 | 238 | 0.0042 | -16 | c.-16 others(37): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53217912 | TTTTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00621.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(10): Show | a0001c0001t0001g0068a0001c0001t0001g0159a0001c0001t0003g0016others(40): Show | 43 | 238 | 0.1807 | -16 | c.178 others(35): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125650139 | TCAGATTT others(9): Show |
T | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 384 | 0.0026 | -16 | c.123 others(35): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 11/12 | chr11 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125661825 | TATGTGAA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 384 | 0.0026 | -16 | c.*65 others(27): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 4679 | chr11 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132828773 | CCGAGGCG others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG02818.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0008 | a0002c0002t0048a0002c0002t0049a0003c0003t0019others(3): Show | a0002c0002t0048g0040a0002c0002t0049g0042a0002c0002t0049g0043others(6): Show | 9 | 378 | 0.0238 | -16 | c.*12 others(29): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 3582 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 447 | 0.0022 | -16 | c.-27 others(27): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926086 | TATATATA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(28): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0007others(2): Show | a0001c0001t0001a0004c0004t0001a0007c0007t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(15): Show | 31 | 440 | 0.0705 | -16 | c.*10 others(27): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 734 | chr20 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 894121 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG04228.hp2 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0044 | 4 | 386 | 0.0104 | -16 | c.609 others(31): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 7/12 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68061095 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 276 | 0.0036 | -16 | c.131 others(33): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68113081 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0125a0001c0001t0002g0126a0001c0001t0002g0127others(13): Show | 16 | 276 | 0.0580 | -16 | c.350 others(33): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 252361 | GATATATA others(9): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0282a0001c0001t0002g0054a0001c0001t0003g0276others(1): Show | 4 | 290 | 0.0138 | -16 | c.-95 others(33): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314323 | CTATGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0006a0001c0001t0016a0002c0002t0001others(16): Show | a0001c0001t0006g0097a0001c0001t0016g0100a0002c0002t0001g0125others(23): Show | 26 | 290 | 0.0897 | -16 | c.-94 others(33): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314329 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 290 | 0.0035 | -16 | c.-94 others(33): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |