| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RNF223_chr1_1065967_1079306 | 1077283 | TCTATGGG others(1163): Show |
T | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -1170 | c.-44 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2978 | chr1 | TogoVar | ||||||
| CNKSR3_chr6_154382515_154515685 | 154504638 | AAATTCTC others(1162): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp2 HG02027.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(10): Show | a0001c0001t0002g0323a0001c0001t0002g0325a0001c0001t0002g0326others(12): Show | 15 | 342 | 0.0439 | -1169 | c.52+ others(15): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316898 | GCATCTCG others(1162): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0008 | a0008c0035 | a0008c0035t0004 | a0008c0035t0004g0080 | 1 | 476 | 0.0021 | -1169 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| MMP20_chr11_102571832_102630332 | 102578264 | ATCCGGAG others(1162): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18969.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0201 | 1 | 446 | 0.0022 | -1169 | c.124 others(17): Show |
MMP20 | ENSG00000137674.4 | transcript | ENST00000260228.3 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621988 | AAGAAAGA others(1161): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02486.hp1 HG03139.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0002g0053a0001c0001t0002g0097a0001c0002t0001g0160others(3): Show | 6 | 174 | 0.0345 | -1168 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622035 | GAAGGAAG others(1161): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0062 | 1 | 174 | 0.0058 | -1168 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| OR5B3_chr11_58397464_58411874 | 58399508 | TAGGTACT others(1161): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(119): Show |
a0002a0004a0007others(1): Show | a0002c0002a0002c0005a0002c0011others(3): Show | a0002c0002t0001a0002c0005t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(29): Show | 122 | 386 | 0.3161 | -1168 | c.*17 others(11): Show |
OR5B3 | ENSG00000172769.4 | transcript | ENST00000641865.1 | protein_coding | 2955 | chr11 | TogoVar | ||||||
| PDE3B_chr11_14638804_14877044 | 14740965 | ACTGTTTG others(1161): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 HG03486.hp2 |
a0001a0007 | a0001c0004a0007c0009 | a0001c0004t0005a0007c0009t0005 | a0001c0004t0005g0330a0001c0004t0005g0331a0007c0009t0005g0329 | 3 | 332 | 0.0090 | -1168 | c.979 others(19): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1160): Show |
T | intron_variant | MODIFIER | HG00738.hp1 NA18953.hp1 NA18970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0005a0002c0003t0006 | a0001c0001t0001g0315a0002c0002t0005g0067a0002c0002t0005g0299others(1): Show | 5 | 476 | 0.0105 | -1167 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1087842 | TATTATTA others(1160): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0086 | 1 | 162 | 0.0062 | -1167 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1087855 | GTTGTTGT others(1160): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0131 | 1 | 162 | 0.0062 | -1167 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622002 | GAAAGAAA others(1160): Show |
G | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 174 | 0.0058 | -1167 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1370885 | CCTCCAGC others(1160): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(41): Show | 44 | 115 | 0.3826 | -1167 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| LMX1B_chr9_126608928_126706032 | 126631518 | GGATGGGG others(1160): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0175 | 1 | 342 | 0.0029 | -1167 | c.326 others(19): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
| STK38L_chr12_27239286_27330959 | 27294433 | GGAGGTGG others(1160): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 374 | 0.0027 | -1167 | c.-11 others(17): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393066 | GGGGAAGG others(1160): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0182 | a0001c0006t0182g0130 | 1 | 346 | 0.0029 | -1167 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393094 | GGGCAGGT others(1160): Show |
G | intron_variant | MODIFIER | NA19066.hp2 | a0005 | a0005c0008 | a0005c0008t0045 | a0005c0008t0045g0139 | 1 | 346 | 0.0029 | -1167 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| C1orf21_chr1_184382029_184634019 | 184433186 | TGTGTGCA others(1159): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01257.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0142a0001c0001t0002g0068a0001c0001t0002g0069 | 3 | 232 | 0.0129 | -1166 | c.-12 others(21): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
| FGD6_chr12_95071749_95222467 | 95194523 | CCACGCCT others(1159): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0298 | 1 | 384 | 0.0026 | -1166 | c.244 others(21): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1371352 | CCTCCAGC others(1159): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 115 | 0.0087 | -1166 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1372119 | CTGTGACA others(1159): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0004 | 1 | 115 | 0.0087 | -1166 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | ||||||
| ZMYM4_chr1_35263709_35427058 | 35412131 | AGCCTCCC others(1159): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0298 | 2 | 298 | 0.0067 | -1166 | c.394 others(18): Show |
ZMYM4 | ENSG00000146463.12 | transcript | ENST00000314607.11 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316487 | ACGTGTGT others(1158): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0160 | 1 | 476 | 0.0021 | -1165 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1372497 | CTGCCCAC others(1158): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0104 | 2 | 115 | 0.0174 | -1165 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12621992 | AAGAAAGA others(1157): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02257.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0033a0001c0001t0002g0084others(1): Show | 4 | 174 | 0.0230 | -1164 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1627753 | AAAGGGGA others(1157): Show |
A | intron_variant | MODIFIER | HG00558.hp1 NA19091.hp2 |
a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0074a0002c0001t0006g0086 | 2 | 352 | 0.0057 | -1164 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316596 | ATGTGTGT others(1155): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02165.hp1 HG02523.hp1 others(5): Show |
a0001a0002a0003 | a0001c0025a0002c0002a0003c0004 | a0001c0025t0002a0002c0002t0007a0003c0004t0004 | a0001c0025t0002g0158a0002c0002t0007g0157a0003c0004t0004g0025others(2): Show | 8 | 476 | 0.0168 | -1162 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DCXR_chr17_82030858_82042697 | 82040833 | CTGCACTC others(1154): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02572.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0002t0001g0005a0001c0002t0001g0012others(2): Show | 13 | 422 | 0.0308 | -1161 | c.-43 others(11): Show |
DCXR | ENSG00000169738.8 | transcript | ENST00000306869.7 | protein_coding | 3137 | chr17 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 67138974 | GCACTTTG others(1154): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 234 | 0.0043 | -1161 | c.174 others(19): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PTPRD_chr9_8309246_10618002 | 10136559 | TTAAAGAT others(1154): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0004a0001c0001t0002g0013a0001c0001t0002g0018others(13): Show | 16 | 34 | 0.4706 | -1161 | c.-54 others(23): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | ||||||
| ZNF511_chr10_133303914_133318161 | 133317000 | AGGACACA others(1154): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 282 | 0.0036 | -1161 | c.*41 others(11): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 3840 | chr10 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(1153): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011 | 5 | 344 | 0.0145 | -1160 | c.-20 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621996 | AAGAAAGA others(1153): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 174 | 0.0058 | -1160 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113346359 | GACCTCTG others(1153): Show |
G | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 288 | 0.0035 | -1160 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(1153): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02897.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0005 | a0001c0001t0001g0001a0003c0004t0005g0015 | 4 | 338 | 0.0118 | -1160 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| ZGLP1_chr19_10299803_10314815 | 10301974 | TCCTTGCA others(1153): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 436 | 0.0023 | -1160 | c.*19 others(11): Show |
ZGLP1 | ENSG00000220201.8 | transcript | ENST00000707000.1 | protein_coding | 2828 | chr19 | TogoVar | ||||||
| HPSE2_chr10_98452077_99240852 | 98782040 | ATGTGAGA others(1152): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 HG02897.hp1 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0003c0003t0003a0004c0004t0002others(1): Show | a0003c0003t0001g0073a0003c0003t0003g0090a0003c0003t0003g0111others(2): Show | 5 | 142 | 0.0352 | -1159 | c.611 others(19): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
| SACS_chr13_23323830_23438702 | 23368901 | ATGTTAGC others(1152): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0159 | 1 | 378 | 0.0027 | -1159 | c.259 others(16): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 4/9 | chr13 | TogoVar | ||||||
| SLC15A5_chr12_16183485_16282685 | 16267189 | TAGTGTAC others(1152): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(149): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0032a0001c0033others(13): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(147): Show | 152 | 324 | 0.4691 | -1159 | c.584 others(17): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827245 | CTGAGCGG others(1152): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02257.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0005 | a0001c0002t0014a0002c0001t0001a0002c0001t0015others(1): Show | a0001c0002t0014g0013a0002c0001t0001g0195a0002c0001t0015g0086others(1): Show | 4 | 200 | 0.0200 | -1159 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033710 | GAGCGTGG others(1151): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149 | 1 | 390 | 0.0026 | -1158 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| RBM25_chr14_73053534_73128899 | 73079054 | ACTTTTTT others(1151): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009a0001c0001t0008g0010 | 2 | 388 | 0.0052 | -1158 | c.324 others(17): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AQP8_chr16_25211947_25233932 | 25218721 | GATACAAA others(1150): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0203a0001c0001t0003g0202a0001c0001t0003g0211 | 3 | 420 | 0.0071 | -1157 | c.260 others(17): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MAN2B1_chr19_12641512_12671742 | 12642523 | TCAAAGAT others(1150): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01070.hp2 others(24): Show |
a0001a0010a0017others(1): Show | a0001c0001a0001c0029a0001c0030others(3): Show | a0001c0001t0001a0001c0029t0001a0001c0030t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(18): Show | 27 | 380 | 0.0711 | -1157 | c.*29 others(11): Show |
MAN2B1 | ENSG00000104774.13 | transcript | ENST00000456935.7 | protein_coding | 3988 | chr19 | TogoVar | ||||||
| RBM25_chr14_73053534_73128899 | 73079056 | TTTTTTTA others(1150): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02735.hp1 HG03831.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005a0001c0001t0008g0006a0001c0001t0008g0007others(3): Show | 6 | 388 | 0.0155 | -1157 | c.324 others(17): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SLC15A5_chr12_16183485_16282685 | 16267192 | TGTACCAT others(1150): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0132 | 1 | 324 | 0.0031 | -1157 | c.584 others(17): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392864 | AGGCAGGT others(1150): Show |
A | intron_variant | MODIFIER | NA18959.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0007 | a0001c0001t0011g0214a0001c0002t0007g0187 | 2 | 346 | 0.0058 | -1157 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82971628 | CAGAAGGA others(1149): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0030 | a0003c0030t0011 | a0003c0030t0011g0140 | 1 | 266 | 0.0038 | -1156 | c.460 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12622000 | AAGAAAGA others(1149): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 174 | 0.0058 | -1156 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PIK3C2A_chr11_17081575_17212986 | 17112807 | ACAGCGTC others(1149): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228a0001c0002t0001g0289 | 2 | 342 | 0.0059 | -1156 | c.332 others(17): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 20/32 | chr11 | TogoVar |