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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2559): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 342 | 0.0029 | 2566 | c.366 others(2583): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2559): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 342 | 0.0029 | 2566 | c.366 others(2583): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2559): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0016 | a0016c0066 | a0016c0066t0008 | a0016c0066t0008g0212 | 1 | 294 | 0.0034 | 2566 | c.153 others(2585): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2559): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 322 | 0.0031 | 2566 | c.178 others(2583): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 433848 | T | TAGATGGC others(2559): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0060 | 1 | 212 | 0.0047 | 2566 | c.111 others(2583): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2559): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 126 | 0.0079 | 2566 | c.-28 others(2585): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366239 | G | GAAGGTGC others(2560): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0050 | a0050c0015 | a0050c0015t0001 | a0050c0015t0001g0022 | 1 | 104 | 0.0096 | 2567 | c.830 others(2584): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2560): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2567 | c.-17 others(2578): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952634 | G | GGTCAGAG others(2560): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 242 | 0.0041 | 2567 | c.360 others(2586): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2560): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 322 | 0.0031 | 2567 | c.178 others(2584): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293479 | A | AGCTCACC others(2561): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19074.hp2 |
a0002 | a0002c0005a0002c0030 | a0002c0005t0001a0002c0030t0001 | a0002c0005t0001g0148 a0002c0030t0001g0205 |
2 | 284 | 0.0070 | 2568 | c.411 others(2585): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0224 | 1 | 345 | 0.0029 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 345 | 0.0029 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 345 | 0.0029 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA18983.hp2 |
a0001a0008 | a0001c0006a0008c0011 | a0001c0006t0001a0008c0011t0001 | a0001c0006t0001g0117 a0008c0011t0001g0084 |
2 | 345 | 0.0058 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 345 | 0.0029 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 345 | 0.0029 | 2568 | c.*17 others(2579): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0036 | a0036c0037 | a0036c0037t0001 | a0036c0037t0001g0053 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 421 | 0.0048 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2561): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2568 | c.*22 others(2579): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(2561): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 2568 | c.*28 others(2579): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953879 | C | CCACCCCA others(2561): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0005 | a0005c0044 | a0005c0044t0003 | a0005c0044t0003g0119 | 1 | 294 | 0.0034 | 2568 | c.503 others(2583): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MLLT1_chr19_6205381_6284975 | 6252624 | C | CAAAAATA others(2561): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 286 | 0.0035 | 2568 | c.276 others(2585): Show |
MLLT1 | ENSG00000130382.9 | transcript | ENST00000252674.9 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGGGC others(2561): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 295 | 0.0034 | 2568 | c.126 others(2587): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
YWHAQ_chr2_9578967_9635997 | 9580535 | A | ACTACTGT others(2561): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 272 | 0.0037 | 2568 | c.*47 others(2579): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 3431 | chr2 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2562): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0140 | 1 | 418 | 0.0024 | 2569 | c.96+ others(2584): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2562): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0365 | 1 | 432 | 0.0023 | 2569 | c.414 others(2586): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GATA3_chr10_8049688_8080198 | 8080117 | C | CTAAATTA others(2562): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0077 | 1 | 370 | 0.0027 | 2569 | c.*60 others(2580): Show |
GATA3 | ENSG00000107485.18 | transcript | ENST00000379328.9 | protein_coding | 4920 | chr10 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2562): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 346 | 0.0029 | 2569 | c.-17 others(2580): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2562): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0018 | a0001c0018t0036 | a0001c0018t0036g0184 | 1 | 375 | 0.0027 | 2569 | c.-19 others(2580): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2562): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 371 | 0.0027 | 2569 | c.-47 others(2580): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099475 | A | AGAGAGAG others(2563): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0020 | 1 | 326 | 0.0031 | 2570 | c.-13 others(2589): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2563): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 421 | 0.0024 | 2570 | c.*22 others(2581): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2563): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 56 | 0.0179 | 2570 | c.135 others(2587): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(2563): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0179 a0001c0008t0015g0180 |
2 | 326 | 0.0061 | 2570 | c.162 others(2589): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2563): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0089 | a0089c0101 | a0089c0101t0001 | a0089c0101t0001g0264 | 1 | 282 | 0.0036 | 2570 | c.299 others(2585): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133730 | T | TCCTCTCT others(2563): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 227 | 0.0044 | 2570 | c.*22 others(2581): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2018 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948595 | G | GGGGATGT others(2563): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 356 | 0.0028 | 2570 | c.114 others(2587): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2563): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 371 | 0.0027 | 2570 | c.-47 others(2581): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2563): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 371 | 0.0027 | 2570 | c.-47 others(2581): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2563): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 371 | 0.0027 | 2570 | c.-47 others(2581): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2563): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 371 | 0.0027 | 2570 | c.-47 others(2581): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758197 | A | ACTCATTC others(2564): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0114 | 1 | 300 | 0.0033 | 2571 | c.655 others(2590): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2564): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 298 | 0.0034 | 2571 | c.955 others(2588): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2564): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 314 | 0.0032 | 2571 | c.-25 others(2588): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2564): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0122 | 1 | 322 | 0.0031 | 2571 | c.178 others(2588): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar |