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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66530952 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 others(57): Show |
60 | 300 | 0.2000 | -9 | c.-34 others(20): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 3200 | chr1 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66631091 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02132.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0288 others(4): Show |
7 | 299 | 0.0234 | -9 | c.75- others(24): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134187420 | TTTCCACC others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0018 a0001c0001t0006g0247 a0001c0001t0006g0248 |
3 | 248 | 0.0121 | -9 | c.362 others(28): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134235540 | TTTTTATT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01258.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 others(27): Show |
30 | 229 | 0.1310 | -9 | c.285 others(28): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66779592 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03669.hp2 HG03688.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 a0001c0002t0002g0044 a0001c0002t0002g0046 others(10): Show |
13 | 140 | 0.0929 | -9 | c.-12 others(30): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66796321 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0012 a0001c0002t0003g0017 a0001c0002t0003g0018 others(7): Show |
10 | 14 | 0.7143 | -9 | c.97- others(24): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS2_chr4_107819932_107920047 | 107886364 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(173): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(164): Show |
176 | 217 | 0.8111 | -9 | c.-24 others(28): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63719005 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0008t0001 | a0001c0001t0001g0135 a0001c0002t0002g0056 a0001c0008t0001g0244 |
3 | 280 | 0.0107 | -9 | c.684 others(26): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222490604 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(65): Show |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0034 others(65): Show |
68 | 235 | 0.2894 | -9 | c.378 others(28): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24902694 | GTAATAAA others(2): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 NA19030.hp1 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0042 | a0001c0001t0010a0003c0003t0017a0004c0042t0010 | a0001c0001t0010g0303 a0003c0003t0017g0320 a0004c0042t0010g0305 |
3 | 336 | 0.0089 | -9 | c.273 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2337548 | TGCGGCGG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | NA18999.hp1 NA19067.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 a0001c0001t0010g0257 |
3 | 412 | 0.0073 | -9 | c.-12 others(18): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/24 | 119 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGTA_chr19_2749715_2788273 | 2784758 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01261.hp2 others(41): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0013 | a0001c0003t0003a0001c0003t0020a0001c0004t0003others(1): Show | a0001c0003t0003g0013 a0001c0003t0003g0037 a0001c0003t0003g0038 others(38): Show |
44 | 187 | 0.2353 | -9 | c.-15 others(20): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1486 | chr19 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2786913 | GCCACCAC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0212 a0001c0001t0001g0241 others(2): Show |
6 | 394 | 0.0152 | -9 | c.-37 others(20): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 3641 | chr19 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65666406 | ATATAGAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0009 a0001c0001t0006g0032 a0001c0001t0006g0296 others(2): Show |
8 | 358 | 0.0223 | -9 | c.*38 others(20): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 11/11 | 3831 | chr5 | TogoVar | ||||||
SH2B1_chr16_28858843_28879205 | 28863893 | AGCCGCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(82): Show |
a0002 | a0002c0002a0002c0004a0002c0008 | a0002c0002t0002a0002c0002t0013a0002c0002t0014others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 others(18): Show |
85 | 376 | 0.2261 | -9 | c.-21 others(20): Show |
SH2B1 | ENSG00000178188.16 | transcript | ENST00000684370.1 | protein_coding | 1/8 | 2177 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02809.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0002a0001c0001t0015a0002c0002t0004others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0135 a0001c0001t0002g0152 others(8): Show |
14 | 65 | 0.2154 | -9 | c.732 others(26): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403510 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0045 others(3): Show |
9 | 410 | 0.0220 | -9 | c.135 others(24): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403512 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0002c0002t0001g0004 others(9): Show |
17 | 392 | 0.0434 | -9 | c.135 others(24): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6761956 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
a0002a0003a0005 | a0002c0003a0002c0005a0003c0004others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0005t0002others(3): Show | a0002c0003t0002g0043 a0002c0003t0002g0151 a0002c0003t0002g0161 others(20): Show |
44 | 378 | 0.1164 | -9 | c.70- others(22): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127757602 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0212 a0001c0001t0001g0213 others(53): Show |
66 | 126 | 0.5238 | -9 | c.555 others(26): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19340601 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18960.hp2 NA18977.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0273 a0001c0001t0001g0306 a0001c0001t0004g0224 others(4): Show |
7 | 163 | 0.0429 | -9 | c.513 others(26): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572973 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0002 | a0001c0001t0001g0263 a0001c0006t0001g0097 a0001c0006t0001g0228 others(1): Show |
4 | 314 | 0.0127 | -9 | c.495 others(26): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 234972125 | TTGTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp2 HG02896.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0260 a0001c0002t0001g0264 a0001c0002t0002g0263 others(7): Show |
10 | 346 | 0.0289 | -9 | c.-20 others(30): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15299483 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp2 others(45): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0282 others(45): Show |
48 | 131 | 0.3664 | -9 | c.330 others(26): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15331015 | TTTTTCTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(84): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0168 a0001c0001t0002g0007 a0001c0001t0002g0008 others(84): Show |
87 | 374 | 0.2326 | -9 | c.139 others(24): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36318898 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(193): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
196 | 208 | 0.9423 | -9 | c.770 others(24): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4355947 | GGATTCAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02273.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(1): Show | a0001c0002t0001g0065 a0001c0002t0001g0089 a0001c0002t0001g0097 others(10): Show |
13 | 356 | 0.0365 | -9 | c.*56 others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4422 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17596169 | CTTAAAAC others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0012 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(2): Show |
5 | 258 | 0.0194 | -9 | c.45+ others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0185 a0001c0001t0001g0242 others(4): Show |
7 | 13 | 0.5385 | -9 | c.45+ others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83464988 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(8): Show |
11 | 143 | 0.0769 | -9 | c.45+ others(26): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83607840 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(47): Show |
50 | 120 | 0.4167 | -9 | c.839 others(28): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19565051 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG02630.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0002 | a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 others(2): Show |
5 | 104 | 0.0481 | -9 | c.138 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19583125 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0193 |
2 | 14 | 0.1429 | -9 | c.129 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19585204 | ATACTAAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03486.hp2 NA19091.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0008a0001c0003t0004others(1): Show | a0001c0001t0001g0150 a0001c0002t0008g0192 a0001c0003t0004g0181 others(1): Show |
4 | 202 | 0.0198 | -9 | c.129 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103606177 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0014a0001c0001t0044a0001c0001t0067others(5): Show | a0001c0001t0014g0101 a0001c0001t0044g0219 a0001c0001t0044g0244 others(6): Show |
9 | 94 | 0.0957 | -9 | c.130 others(26): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103606432 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(28): Show |
a0001a0003a0012 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0087a0001c0004t0001a0001c0004t0010others(13): Show | a0001c0002t0087g0192 a0001c0004t0001g0087 a0001c0004t0001g0142 others(28): Show |
31 | 86 | 0.3605 | -9 | c.130 others(26): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169146076 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 |
a0001 | a0001c0002a0001c0018 | a0001c0002t0003a0001c0018t0022 | a0001c0002t0003g0104 a0001c0018t0022g0192 |
2 | 172 | 0.0116 | -9 | c.765 others(26): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 145971871 | AATGATGA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001a0014 | a0001c0011a0014c0017 | a0001c0011t0001a0014c0017t0001 | a0001c0011t0001g0157 a0014c0017t0001g0245 |
2 | 156 | 0.0128 | -9 | c.379 others(28): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148980642 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02129.hp2 HG02135.hp1 others(5): Show |
a0003 | a0003c0006 | a0003c0006t0012a0003c0006t0211a0003c0006t0212others(2): Show | a0003c0006t0012g0008 a0003c0006t0012g0286 a0003c0006t0211g0282 others(3): Show |
8 | 261 | 0.0307 | -9 | c.*24 others(22): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 1507 | chr5 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 459119 | AATATAAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(14): Show |
a0001 | a0001c0005a0001c0006a0001c0014 | a0001c0005t0001a0001c0005t0005a0001c0005t0006others(4): Show | a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0015 others(14): Show |
17 | 210 | 0.0810 | -9 | c.468 others(26): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924696 | GAAAGGAA others(2): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02027.hp2 HG02896.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0069 a0001c0001t0001g0076 a0002c0002t0001g0008 others(10): Show |
13 | 267 | 0.0487 | -9 | c.118 others(28): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952192 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01981.hp2 others(7): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0012 | a0001c0001t0001a0004c0004t0001a0010c0012t0001 | a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0157 others(7): Show |
10 | 282 | 0.0355 | -9 | c.405 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHFL_chr19_10081317_10098243 | 10088953 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01975.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 5 | 179 | 0.0279 | -9 | c.196 others(24): Show |
SHFL | ENSG00000130813.18 | transcript | ENST00000253110.16 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11237575 | GGAAGAAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp1 HG03471.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0044 | a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0002g0015 others(1): Show |
4 | 28 | 0.1429 | -9 | c.-38 others(20): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3637 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11240631 | CCCGCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0126 others(6): Show |
9 | 95 | 0.0947 | -9 | c.-79 others(18): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 581 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11323669 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02040.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0163 a0001c0001t0003g0176 a0001c0001t0004g0054 others(8): Show |
11 | 138 | 0.0797 | -9 | c.800 others(28): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55434648 | ATGGTGTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(168): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(73): Show |
171 | 370 | 0.4622 | -9 | c.977 others(24): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SHISA7_chr19_55423740_55448300 | 55434887 | ATGTGGTG others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 |
3 | 370 | 0.0081 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SHISA7_chr19_55423740_55448300 | 55435093 | TGTGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03195.hp2 HG03927.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 others(2): Show |
7 | 370 | 0.0189 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SHISA7_chr19_55423740_55448300 | 55435104 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(167): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(72): Show |
170 | 370 | 0.4595 | -9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar |