view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC2_chr11_102342214_102383670 | 102342308 | A | ATATGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00735.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0058 others(23): Show |
26 | 344 | 0.0756 | 6 | c.-63 others(17): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4905 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTATT | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02683.hp2 HG04199.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0054 a0001c0001t0001g0081 others(6): Show |
9 | 344 | 0.0262 | 6 | c.-62 others(17): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0019 others(22): Show |
27 | 344 | 0.0785 | 6 | c.-62 others(17): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102364139 | T | TTATATA | intron_variant | MODIFIER | HG01169.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0101 a0001c0001t0001g0157 others(4): Show |
8 | 344 | 0.0233 | 6 | c.112 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATAC | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0114 a0001c0001t0001g0144 others(5): Show |
8 | 344 | 0.0233 | 6 | c.112 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102365743 | A | AGTGTGT | intron_variant | MODIFIER | HG02602.hp1 HG04199.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0118 a0001c0001t0001g0125 others(1): Show |
4 | 344 | 0.0116 | 6 | c.112 others(25): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342308 | A | ATATGTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp1 others(29): Show |
a0001a0003a0006 | a0001c0001a0001c0013a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0025 others(23): Show |
32 | 384 | 0.0833 | 6 | c.*52 others(17): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2906 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATT | downstream_gene_variant | MODIFIER | HG02129.hp1 HG02683.hp2 HG04199.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(8): Show |
12 | 384 | 0.0313 | 6 | c.*52 others(17): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATA | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00741.hp1 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(20): Show |
29 | 384 | 0.0755 | 6 | c.*52 others(17): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC5_chr17_78209253_78230635 | 78230230 | G | GAAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00642.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0016 others(4): Show |
13 | 432 | 0.0301 | 6 | c.*66 others(17): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4596 | chr17 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32375743 | C | CTCTTTT | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG02559.hp2 others(10): Show |
a0001a0008a0011 | a0001c0007a0001c0018a0001c0030others(3): Show | a0001c0007t0004a0001c0007t0006a0001c0007t0007others(5): Show | a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(10): Show |
13 | 274 | 0.0475 | 6 | c.326 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397574 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0001a0001c0006t0003a0001c0011t0001others(3): Show | a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0262 others(9): Show |
12 | 274 | 0.0438 | 6 | c.103 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397604 | G | GTGTGTA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01261.hp2 others(6): Show |
a0001a0005a0009 | a0001c0006a0005c0020a0009c0040 | a0001c0006t0003a0005c0020t0003a0009c0040t0003 | a0001c0006t0003g0003 a0001c0006t0003g0004 a0001c0006t0003g0005 others(6): Show |
9 | 274 | 0.0329 | 6 | c.103 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(6): Show | a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0205 others(15): Show |
18 | 274 | 0.0657 | 6 | c.324 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATTTT | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01346.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0010a0002c0004others(1): Show | a0001c0006t0003a0001c0010t0002a0002c0004t0002others(1): Show | a0001c0006t0003g0013 a0001c0010t0002g0063 a0002c0004t0002g0062 others(3): Show |
6 | 274 | 0.0219 | 6 | c.475 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461343 | A | AGTGTGT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02257.hp2 others(3): Show |
a0001a0002a0004 | a0001c0003a0001c0014a0001c0025others(2): Show | a0001c0003t0003a0001c0014t0003a0001c0025t0002others(2): Show | a0001c0003t0003g0134 a0001c0014t0003g0157 a0001c0025t0002g0177 others(3): Show |
6 | 274 | 0.0219 | 6 | c.475 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32473706 | C | CGTGTGT | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0014others(2): Show | a0001c0003t0003a0001c0007t0006a0001c0014t0003others(3): Show | a0001c0003t0003g0032 a0001c0007t0006g0185 a0001c0014t0003g0157 others(8): Show |
11 | 274 | 0.0402 | 6 | c.672 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 33/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32504034 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01496.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0009others(7): Show | a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0241 others(23): Show |
26 | 274 | 0.0949 | 6 | c.949 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 49/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32521365 | C | CAAAAAA | intron_variant | MODIFIER | HG01258.hp1 HG02257.hp2 HG03471.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0011t0001others(3): Show | a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0003t0003g0037 others(6): Show |
9 | 274 | 0.0329 | 6 | c.116 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 57/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32532134 | C | CGTGTGT | intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0004 | a0001c0018a0001c0031a0002c0004others(2): Show | a0001c0018t0005a0001c0031t0005a0002c0004t0002others(2): Show | a0001c0018t0005g0183 a0001c0018t0005g0184 a0001c0031t0005g0182 others(5): Show |
8 | 274 | 0.0292 | 6 | c.122 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102797565 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0017a0001c0001t0022others(1): Show | a0001c0001t0004g0311 a0001c0001t0017g0061 a0001c0001t0022g0310 others(1): Show |
4 | 404 | 0.0099 | 6 | c.-21 others(17): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 1553 | chr13 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102808994 | T | TTTAGCG | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0002g0203 a0001c0001t0004g0051 a0001c0001t0004g0052 others(25): Show |
33 | 404 | 0.0817 | 6 | c.478 others(23): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102824950 | A | ATTAATT | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0024others(3): Show | a0001c0001t0004g0049 a0001c0001t0005g0130 a0001c0001t0024g0280 others(4): Show |
9 | 404 | 0.0223 | 6 | c.901 others(23): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 a0001c0001t0003g0224 a0001c0001t0003g0227 others(3): Show |
6 | 404 | 0.0149 | 6 | c.103 others(25): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLACAT1_chr1_205429886_205461045 | 205454549 | T | TGTGTGA | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0076 a0001c0001t0008g0079 a0001c0001t0011g0032 others(3): Show |
8 | 394 | 0.0203 | 6 | c.-37 others(23): Show |
BLACAT1 | ENSG00000281406.2 | transcript | ENST00000629624.3 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11492272 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01981.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0004t0004g0210 |
3 | 308 | 0.0097 | 6 | c.-23 others(17): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 2114 | chr8 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11533582 | C | CGGAGGA | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0002a0001c0006a0001c0011others(1): Show | a0001c0002t0004a0001c0002t0009a0001c0006t0004others(4): Show | a0001c0002t0004g0104 a0001c0002t0009g0101 a0001c0006t0004g0098 others(8): Show |
11 | 308 | 0.0357 | 6 | c.-1- others(21): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11559396 | G | GACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0235 others(81): Show |
92 | 308 | 0.2987 | 6 | c.102 others(25): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30291954 | T | TCGGCGG | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0002g0106 a0001c0001t0002g0118 others(5): Show |
10 | 298 | 0.0336 | 6 | c.-14 others(15): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90713652 | G | GTGTGTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG01243.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0032 others(14): Show |
17 | 280 | 0.0607 | 6 | c.-37 others(17): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 3693 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATAT | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0010a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0177 others(9): Show |
12 | 280 | 0.0429 | 6 | c.-4- others(23): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90784351 | T | TTTTTTG | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0130 others(5): Show |
8 | 280 | 0.0286 | 6 | c.266 others(23): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90797414 | C | CAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01515.hp2 HG02630.hp1 others(5): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0001a0005c0007t0002 | a0003c0003t0002g0046 a0003c0003t0002g0129 a0003c0003t0002g0197 others(5): Show |
8 | 280 | 0.0286 | 6 | c.321 others(23): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96189698 | A | AATCATC | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0031others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0083 others(38): Show |
43 | 322 | 0.1335 | 6 | c.*22 others(17): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 17/17 | 2274 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(92): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0077 others(87): Show |
95 | 322 | 0.2950 | 6 | c.125 others(25): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96229654 | C | CTGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(74): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0030 others(71): Show |
77 | 322 | 0.2391 | 6 | c.204 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
BLOC1S1_chr12_55711046_55724703 | 55718492 | A | ATGTGTG | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 others(2): Show |
18 | 410 | 0.0439 | 6 | c.219 others(21): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276349 | G | GTCTCCC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 others(32): Show |
48 | 378 | 0.1270 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276362 | G | GTCTCCC | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG02145.hp1 others(16): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0005 | a0001c0003t0005a0001c0004t0008a0003c0005t0005 | a0001c0003t0005g0008 a0001c0003t0005g0043 a0001c0003t0005g0044 others(10): Show |
19 | 378 | 0.0503 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276375 | G | GTCTCCC | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0056 others(9): Show |
14 | 378 | 0.0370 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276388 | G | GTCTCCC | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG01978.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0225 others(2): Show |
5 | 378 | 0.0132 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276407 | G | GTCTCCC | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02970.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0042 a0002c0002t0007g0212 a0002c0002t0007g0213 |
4 | 378 | 0.0106 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276445 | G | GTCTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(238): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(148): Show |
241 | 378 | 0.6376 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276469 | C | CCTCTCT | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0005 | a0001c0003t0005a0001c0004t0008a0003c0005t0005 | a0001c0003t0005g0008 a0001c0003t0005g0043 a0001c0003t0005g0044 others(12): Show |
21 | 378 | 0.0556 | 6 | c.398 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACAC | intron_variant | MODIFIER | HG01928.hp1 HG02486.hp1 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0005others(2): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 others(9): Show |
13 | 378 | 0.0344 | 6 | c.173 others(21): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(3): Show |
19 | 426 | 0.0446 | 6 | c.-16 others(17): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCGCGCA | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02572.hp1 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0031a0001c0001t0034others(1): Show | a0001c0001t0021g0001 a0001c0001t0031g0002 a0001c0001t0034g0001 others(1): Show |
5 | 426 | 0.0117 | 6 | c.-16 others(17): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8013216 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(52): Show |
56 | 364 | 0.1539 | 6 | c.*24 others(17): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 350 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8017385 | A | AACACAC | intron_variant | MODIFIER | HG01243.hp1 HG02071.hp1 HG02723.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0052 a0001c0001t0001g0098 a0001c0001t0002g0118 others(5): Show |
8 | 364 | 0.0220 | 6 | c.385 others(23): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8022574 | T | TTTTTTC | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01123.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 others(26): Show |
31 | 364 | 0.0852 | 6 | c.384 others(23): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar |