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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF220_chr1_44400255_44656723 | 44468135 | T | TAAAAAAA others(304): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0167 others(1): Show |
4 | 218 | 0.0184 | 311 | c.625 others(330): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11213565 | T | TAAAATAT others(304): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018 | 1 | 320 | 0.0031 | 311 | c.204 others(328): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 17/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11213570 | T | TATTTATT others(304): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0079 | a0002c0002t0079g0319 | 1 | 320 | 0.0031 | 311 | c.204 others(328): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 17/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(304): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01123.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0196 a0001c0001t0004g0208 a0001c0001t0004g0209 others(12): Show |
15 | 320 | 0.0469 | 311 | c.324 others(326): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60542445 | A | ACATGCAC others(304): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0022a0001c0001t0054others(4): Show | a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 others(4): Show |
7 | 118 | 0.0593 | 311 | c.197 others(330): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213092711 | T | TCCAAGAT others(304): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0270 | 1 | 330 | 0.0030 | 311 | c.263 others(330): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RSPH1_chr21_42467486_42501224 | 42477234 | C | CGGGGATG others(304): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 408 | 0.0025 | 311 | c.727 others(324): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RTF1_chr15_41412095_41488563 | 41430010 | T | TTTTTTTT others(304): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01981.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0028a0001c0001t0030others(1): Show | a0001c0001t0004g0182 a0001c0001t0004g0191 a0001c0001t0004g0192 others(3): Show |
6 | 226 | 0.0266 | 311 | c.199 others(328): Show |
RTF1 | ENSG00000137815.15 | transcript | ENST00000389629.9 | protein_coding | 1/17 | chr15 | TogoVar | |||||||
RTF1_chr15_41412095_41488563 | 41430010 | T | TTTTTTTT others(304): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 226 | 0.0044 | 311 | c.199 others(328): Show |
RTF1 | ENSG00000137815.15 | transcript | ENST00000389629.9 | protein_coding | 1/17 | chr15 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(304): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0130 |
3 | 210 | 0.0143 | 311 | c.899 others(326): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148515250 | A | AAAGACTA others(304): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0034 | a0001c0034t0002 | a0001c0034t0002g0018 | 1 | 322 | 0.0031 | 311 | c.862 others(326): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SBSPON_chr8_73059543_73098172 | 73067663 | A | AGGCTGGG others(304): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0315 | 1 | 414 | 0.0024 | 311 | c.678 others(326): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(304): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 290 | 0.0035 | 311 | c.464 others(324): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(304): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 290 | 0.0035 | 311 | c.464 others(324): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52923161 | T | TAAAAAAA others(304): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0033 | 1 | 280 | 0.0036 | 311 | c.-42 others(322): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 4114 | chr1 | TogoVar | |||||||
SCYGR2_chr2_227593893_227604255 | 227601500 | T | TAGATTTG others(304): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 1 | 469 | 0.0021 | 311 | c.*22 others(322): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 2246 | chr2 | TogoVar | |||||||
SEC11C_chr18_59134884_59163832 | 59152232 | G | GCAGGACT others(304): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0001t0001g0091 |
9 | 444 | 0.0203 | 311 | c.198 others(326): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(304): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 324 | 0.0031 | 311 | c.115 others(328): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CCTATATA others(304): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 324 | 0.0031 | 311 | c.115 others(328): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63482700 | T | TAAAAATT others(304): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 410 | 0.0024 | 311 | c.-7- others(326): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB6_chr6_2943159_2976567 | 2972360 | C | CAAGAAAC others(304): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(26): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0077 a0002c0003t0001g0002 a0002c0003t0001g0009 others(16): Show |
29 | 384 | 0.0755 | 311 | c.-83 others(320): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 794 | chr6 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(304): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18993.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0002t0004g0283 |
3 | 400 | 0.0075 | 311 | c.137 others(328): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(304): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG04204.hp2 |
a0001a0035 | a0001c0003a0035c0060 | a0001c0003t0004a0001c0003t0044a0035c0060t0108 | a0001c0003t0004g0224 a0001c0003t0044g0010 a0035c0060t0108g0309 |
3 | 316 | 0.0095 | 311 | c.257 others(330): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678994 | G | GTGGGGAG others(304): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0080 | a0001c0004t0080g0082 | 1 | 316 | 0.0032 | 311 | c.257 others(330): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401629 | G | GCCCCGCT others(304): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0073 | 1 | 242 | 0.0041 | 311 | c.*42 others(322): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4086 | chr11 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232452014 | T | TAAAAATG others(304): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 HG03540.hp1 others(1): Show |
a0002 | a0002c0006a0002c0012 | a0002c0006t0004a0002c0006t0007a0002c0006t0008others(1): Show | a0002c0006t0004g0097 a0002c0006t0007g0004 a0002c0006t0008g0267 others(1): Show |
4 | 292 | 0.0137 | 311 | c.309 others(330): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070781 | G | GAGCCCCC others(304): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0036 | 1 | 118 | 0.0085 | 311 | c.224 others(330): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC2A13_chr12_39750025_40111081 | 39816593 | G | GAAAGAAA others(304): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19002.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0015 a0001c0002t0004g0022 |
2 | 214 | 0.0094 | 311 | c.144 others(332): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 7/9 | chr12 | TogoVar | |||||||
SLC39A8_chr4_102256666_102350482 | 102275299 | C | CAAAAACA others(304): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 266 | 0.0038 | 311 | c.841 others(328): Show |
SLC39A8 | ENSG00000138821.14 | transcript | ENST00000356736.5 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92143399 | A | ATAATATA others(304): Show |
intron_variant | MODIFIER | HG01358.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0002g0151 |
2 | 190 | 0.0105 | 311 | c.151 others(330): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58877171 | A | AAGCTTTT others(304): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 a0001c0001t0002g0274 |
2 | 386 | 0.0052 | 311 | c.*28 others(322): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 1878 | chr15 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501088 | C | CATTATAT others(304): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 340 | 0.0029 | 311 | c.*17 others(330): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49092919 | T | TTTGTTTT others(304): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 366 | 0.0027 | 311 | c.265 others(328): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(304): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02071.hp2 HG02132.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0029 a0001c0002t0001g0031 a0002c0003t0001g0030 others(1): Show |
4 | 190 | 0.0211 | 311 | c.72+ others(328): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(304): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0079 | 1 | 190 | 0.0053 | 311 | c.72+ others(328): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(304): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00738.hp1 others(51): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0036 others(46): Show |
54 | 380 | 0.1421 | 311 | c.-13 others(328): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(304): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 380 | 0.0026 | 311 | c.-13 others(328): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7449238 | C | CCTTCCTC others(304): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0003 | 1 | 168 | 0.0060 | 311 | c.548 others(330): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213647558 | T | TAGAAGTT others(304): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 86 | 0.0116 | 311 | c.107 others(334): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49492383 | G | GCTAATAT others(304): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03471.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 others(1): Show |
4 | 158 | 0.0253 | 311 | c.264 others(328): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(304): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 418 | 0.0024 | 311 | c.*54 others(322): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(304): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 418 | 0.0024 | 311 | c.*54 others(322): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(304): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0132 | 1 | 260 | 0.0039 | 311 | c.138 others(330): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35009343 | G | GCCACACA others(304): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 a0001c0001t0003g0261 |
2 | 396 | 0.0051 | 311 | c.485 others(326): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642166 | G | GGGGGGCC others(304): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 422 | 0.0024 | 311 | c.*65 others(322): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4448 | chr20 | TogoVar | |||||||
SSR2_chr1_156004048_156025951 | 156004603 | C | CCTCCTGC others(304): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 356 | 0.0028 | 311 | c.*49 others(322): Show |
SSR2 | ENSG00000163479.14 | transcript | ENST00000295702.9 | protein_coding | 4444 | chr1 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637300 | A | ATATATAA others(304): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018 | 1 | 268 | 0.0037 | 311 | c.*71 others(322): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3766 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637308 | T | TATATATA others(304): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 268 | 0.0037 | 311 | c.*71 others(322): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3774 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637701 | A | AATATAAT others(304): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0233 | 1 | 268 | 0.0037 | 311 | c.*75 others(322): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4167 | chr10 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110373614 | T | TAGCAAGC others(304): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0007a0053 | a0007c0078a0053c0116 | a0007c0078t0004a0053c0116t0009 | a0007c0078t0004g0120 a0053c0116t0009g0067 |
2 | 362 | 0.0055 | 311 | c.106 others(332): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 46/47 | chr9 | TogoVar |