| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EXOC6_chr10_92843520_93064490 | 92948070 | A | ATTGTACC others(541): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 288 | 0.0035 | 548 | c.131 others(565): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27998965 | G | GTATATAC others(541): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0072 | 1 | 292 | 0.0034 | 548 | c.*50 others(559): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4308 | chr13 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308480 | C | CCACCACC others(541): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0365 | 1 | 422 | 0.0024 | 548 | c.962 others(565): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322664 | T | TGGAATAT others(541): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0160 | 2 | 323 | 0.0062 | 548 | c.-23 others(559): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | ||||||
| IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(541): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 252 | 0.0040 | 548 | c.10- others(565): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(541): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008 | a0001c0001t0003g0010a0001c0001t0003g0011a0001c0001t0007g0003others(1): Show | 6 | 276 | 0.0217 | 548 | c.*65 others(559): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
| KANK1_chr9_499695_751103 | 514167 | T | TCTCCCTC others(541): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0020 | a0020c0026 | a0020c0026t0002 | a0020c0026t0002g0228 | 1 | 254 | 0.0039 | 548 | c.-84 others(565): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(541): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 312 | 0.0032 | 548 | c.-41 others(563): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LDLRAD4_chr18_13213760_13657751 | 13262429 | C | CCTGTGCG others(541): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0131 | 1 | 178 | 0.0056 | 548 | c.-46 others(569): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATAT others(541): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18947.hp2 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0152a0001c0001t0001g0159a0001c0001t0001g0238others(1): Show | 4 | 260 | 0.0154 | 548 | c.125 others(565): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LOC128092252_chr15_50643802_50691717 | 50679475 | T | TATATATA others(541): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0018a0001c0001t0000g0025 | 2 | 388 | 0.0052 | 548 | c.187 others(565): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(541): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 548 | c.-42 others(559): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(541): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0278 | 1 | 290 | 0.0035 | 548 | c.129 others(565): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAEA_chr4_1284891_1345137 | 1317139 | G | GCAGGCCC others(541): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 388 | 0.0026 | 548 | c.456 others(565): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588955 | A | ACATATAT others(541): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 364 | 0.0028 | 548 | c.394 others(563): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(541): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0013a0005c0005t0001g0130 | 2 | 364 | 0.0055 | 548 | c.394 others(563): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(541): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0129a0005c0005t0001g0135 | 2 | 364 | 0.0055 | 548 | c.394 others(563): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(541): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0270 | 1 | 362 | 0.0028 | 548 | c.-75 others(567): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(541): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA19070.hp1 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0033 | a0001c0004t0002g0212a0001c0004t0033g0218 | 2 | 386 | 0.0052 | 548 | c.*92 others(559): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103840372 | G | GCTCATCT others(541): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0020 | 1 | 386 | 0.0026 | 548 | c.208 others(563): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(541): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0061 | 1 | 68 | 0.0147 | 548 | c.62- others(567): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(541): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 548 | c.*70 others(559): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(541): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | 548 | c.*70 others(559): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(541): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 400 | 0.0025 | 548 | c.*70 others(559): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(541): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 548 | c.-26 others(559): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(541): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0019 | a0019c0151 | a0019c0151t0001 | a0019c0151t0001g0155 | 1 | 282 | 0.0036 | 548 | c.299 others(563): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(541): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 300 | 0.0033 | 548 | c.117 others(565): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(541): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 300 | 0.0033 | 548 | c.117 others(565): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(541): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0023 | a0023c0052 | a0023c0052t0004 | a0023c0052t0004g0096 | 1 | 188 | 0.0053 | 548 | c.147 others(567): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(541): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp2 others(36): Show |
a0001a0005a0011others(7): Show | a0001c0001a0001c0002a0001c0024others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(13): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0047others(36): Show | 39 | 188 | 0.2075 | 548 | c.147 others(567): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(541): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0024 | a0024c0035 | a0024c0035t0001 | a0024c0035t0001g0082 | 1 | 188 | 0.0053 | 548 | c.147 others(567): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(541): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0051 | 1 | 188 | 0.0053 | 548 | c.147 others(567): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137503786 | G | GAAAAAAG others(541): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0003a0010 | a0003c0058a0010c0013 | a0003c0058t0001a0010c0013t0002 | a0003c0058t0001g0176a0010c0013t0002g0165 | 2 | 188 | 0.0106 | 548 | c.147 others(567): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113162555 | T | TCCCCACA others(541): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 378 | 0.0027 | 548 | c.260 others(563): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1720015 | G | GAGAGAGA others(541): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 322 | 0.0031 | 548 | c.200 others(567): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(541): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18983.hp2 NA19066.hp2 |
a0019a0034 | a0019c0141a0019c0142a0034c0140 | a0019c0141t0001a0019c0142t0030a0034c0140t0013 | a0019c0141t0001g0176a0019c0142t0030g0178a0034c0140t0013g0179 | 3 | 292 | 0.0103 | 548 | c.261 others(565): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(541): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 |
a0038a0039 | a0038c0146a0039c0147 | a0038c0146t0048a0039c0147t0045 | a0038c0146t0048g0172a0039c0147t0045g0175 | 2 | 292 | 0.0069 | 548 | c.261 others(565): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(541): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055a0001c0001t0005g0056a0001c0001t0005g0057 | 3 | 308 | 0.0097 | 548 | c.-75 others(567): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RTN1_chr14_59590983_59875776 | 59750589 | A | AATATATC others(541): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0156 | 2 | 172 | 0.0116 | 548 | c.242 others(565): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| SCTR_chr2_119434843_119529483 | 119444820 | T | TATATACA others(541): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0065 | 1 | 290 | 0.0035 | 548 | c.114 others(567): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 433802 | C | CATTGTGA others(541): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0006a0001c0005t0006a0003c0008t0006 | a0001c0001t0006g0043a0001c0001t0006g0049a0001c0001t0006g0054others(2): Show | 5 | 212 | 0.0236 | 548 | c.111 others(565): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401197 | C | CGCCCCGC others(541): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 242 | 0.0041 | 548 | c.*46 others(559): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4518 | chr11 | TogoVar | ||||||
| SLC5A12_chr11_26662020_26727060 | 26723310 | T | TACCCAAA others(541): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0035 | a0006c0035t0122 | a0006c0035t0122g0322 | 1 | 412 | 0.0024 | 548 | c.-15 others(559): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 1251 | chr11 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726502 | C | CAGGAGGA others(541): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0003 | a0003c0033 | a0003c0033t0007 | a0003c0033t0007g0108 | 1 | 132 | 0.0076 | 548 | c.227 others(567): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SMAD2_chr18_47803957_47935659 | 47850548 | A | AATATATA others(541): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0129 | a0001c0001t0020g0192a0001c0001t0129g0190 | 2 | 310 | 0.0065 | 548 | c.784 others(563): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(541): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 340 | 0.0029 | 548 | c.*17 others(567): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168659504 | G | GAGGGTGG others(541): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01069.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0013others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0085a0001c0001t0001g0089others(25): Show | 28 | 180 | 0.1556 | 548 | c.128 others(567): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827116 | C | AACATATA others(541): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 302 | 0.0033 | 548 | c.12+ others(563): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(541): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0069 | 1 | 268 | 0.0037 | 548 | c.291 others(567): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768606 | G | GGAGGGAG others(541): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0116 | a0001c0116t0001 | a0001c0116t0001g0232 | 1 | 256 | 0.0039 | 548 | c.*22 others(559): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1888 | chr12 | TogoVar |