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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTA1_chr1_158605704_158691715 | 158690437 | TTTTTGTT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show |
a0001a0002a0003others(60): Show | a0001c0001a0001c0004a0001c0012others(89): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(128): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(308): Show |
354 | 367 | 0.9646 | -15 | c.-39 others(26): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 3723 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128602964 | CTACGTTG others(8): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0253 a0001c0010t0001g0299 a0001c0010t0001g0300 others(1): Show |
4 | 300 | 0.0133 | -15 | c.358 others(32): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 27/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54565557 | GTGTAGGC others(8): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 368 | 0.0027 | -15 | c.149 others(34): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN2_chr11_66677497_66734216 | 66728181 | GGGCGGGC others(8): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0039 | 1 | 326 | 0.0031 | -15 | c.-11 others(32): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 1/37 | chr11 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40531464 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0017 | a0017c0052 | a0017c0052t0001 | a0017c0052t0001g0125 | 1 | 23 | 0.0435 | -15 | c.394 others(34): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64765814 | GTGTGTGA others(8): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
a0001a0002a0022others(1): Show | a0001c0021a0002c0006a0022c0066others(1): Show | a0001c0021t0009a0002c0006t0001a0022c0066t0009others(1): Show | a0001c0021t0009g0100 a0001c0021t0009g0103 a0002c0006t0001g0201 others(2): Show |
5 | 263 | 0.0190 | -15 | c.634 others(32): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64797467 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0184 a0001c0002t0001g0185 others(1): Show |
4 | 73 | 0.0548 | -15 | c.118 others(32): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 10/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64830334 | CTTATTAT others(8): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03927.hp1 NA19070.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0014others(1): Show | a0001c0001t0023a0001c0009t0002a0001c0014t0001others(1): Show | a0001c0001t0023g0227 a0001c0009t0002g0198 a0001c0014t0001g0194 others(1): Show |
4 | 85 | 0.0471 | -15 | c.-51 others(32): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64867859 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0249 a0002c0007t0001g0255 |
2 | 67 | 0.0299 | -15 | c.-52 others(34): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77564290 | GAGGAAGA others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 244 | 0.0041 | -15 | c.757 others(32): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77588996 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0031 others(59): Show |
63 | 74 | 0.8514 | -15 | c.327 others(32): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77608919 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0003t0001others(2): Show | a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0006g0123 others(5): Show |
8 | 60 | 0.1333 | -15 | c.132 others(32): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161348251 | GCAAAACA others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0168 others(2): Show |
6 | 146 | 0.0411 | -15 | c.-32 others(32): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18621323 | CAGAAAAG others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(58): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0310 a0001c0002t0002g0020 a0001c0002t0002g0180 others(51): Show |
61 | 131 | 0.4656 | -15 | c.61- others(30): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45696039 | TCCAACAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 338 | 0.0030 | -15 | c.*50 others(26): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 4759 | chr15 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179823445 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0135 | 1 | 67 | 0.0149 | -15 | c.302 others(30): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179836606 | ACCTCTTC others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0073 a0001c0003t0010g0083 a0001c0003t0010g0130 |
3 | 460 | 0.0065 | -15 | c.*23 others(22): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 8/8 | 23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SRA1_chr5_140545068_140562473 | 140549035 | TGGAGGAG others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 400 | 0.0025 | -15 | c.*16 others(26): Show |
SRA1 | ENSG00000213523.12 | transcript | ENST00000336283.9 | protein_coding | 1032 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415642 | AGGAGGGG others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0249 a0002c0002t0001g0095 |
2 | 280 | 0.0071 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415671 | GGGGAGGG others(8): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0014 |
3 | 340 | 0.0088 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415682 | GGGACGGG others(8): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 317 | 0.0032 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415723 | GGAGAGGA others(8): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG03130.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0159 others(1): Show |
4 | 315 | 0.0127 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415733 | GGAGACGA others(8): Show |
G | intron_variant | MODIFIER | HG02976.hp2 NA18954.hp1 NA18971.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0230 a0002c0004t0001g0214 a0002c0004t0001g0215 |
3 | 331 | 0.0091 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415738 | CGAGAGGA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02258.hp1 others(6): Show |
a0002 | a0002c0002a0002c0004a0002c0008 | a0002c0002t0001a0002c0004t0001a0002c0008t0001 | a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0010 others(6): Show |
9 | 294 | 0.0306 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415748 | CGAGAGGA others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG02109.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 others(25): Show |
28 | 210 | 0.1333 | -15 | c.233 others(34): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55343616 | CATTGGAG others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0074 | 1 | 382 | 0.0026 | -15 | c.-27 others(26): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2625 | chr4 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17808409 | ATTTTATT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 340 | 0.0029 | -15 | c.*41 others(26): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2924 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17808414 | ATTATTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(1): Show | a0001c0001t0002g0003 a0001c0001t0008g0022 a0001c0001t0008g0096 others(4): Show |
7 | 260 | 0.0269 | -15 | c.*41 others(26): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2919 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17823736 | TGCGGGCC others(8): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0019 | a0019c0013 | a0019c0013t0033 | a0019c0013t0033g0248 | 1 | 350 | 0.0029 | -15 | c.92- others(30): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64749059 | CATAATAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0008 | a0001c0001t0018g0121 a0001c0003t0008g0063 a0001c0003t0008g0064 others(6): Show |
9 | 166 | 0.0542 | -15 | c.61+ others(30): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64772624 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0050a0001c0003t0012 | a0001c0001t0003g0250 a0001c0001t0003g0263 a0001c0001t0003g0265 others(3): Show |
6 | 44 | 0.1364 | -15 | c.-41 others(26): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3934 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66184223 | GTTTTTTT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp1 NA18992.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0185 a0001c0001t0004g0037 others(1): Show |
5 | 13 | 0.3846 | -15 | c.*53 others(26): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 609 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63868078 | TGTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02486.hp1 HG02886.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0070a0001c0001t0108a0001c0001t0124others(7): Show | a0001c0001t0070g0005 a0001c0001t0108g0026 a0001c0001t0124g0139 others(8): Show |
11 | 168 | 0.0655 | -15 | c.67+ others(32): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63949012 | TCATATAT others(8): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0117 | 1 | 146 | 0.0068 | -15 | c.68- others(32): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63949396 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 NA18948.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0105a0001c0001t0108a0001c0001t0124others(1): Show | a0001c0001t0105g0067 a0001c0001t0108g0026 a0001c0001t0124g0139 others(1): Show |
4 | 30 | 0.1333 | -15 | c.68- others(32): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64068282 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01243.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(40): Show | a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0010g0157 others(45): Show |
48 | 168 | 0.2857 | -15 | c.112 others(34): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | chr12 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145030720 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 1 | 48 | 0.0208 | -15 | c.68- others(32): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145044650 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0032 |
2 | 7 | 0.2857 | -15 | c.67+ others(32): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121249565 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 272 | 0.0037 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121249566 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0051 a0002c0002t0031g0100 |
2 | 271 | 0.0074 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249568 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01358.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0034 | a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 others(6): Show |
9 | 267 | 0.0337 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249570 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 a0002c0002t0002g0102 |
2 | 255 | 0.0078 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249572 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0202 a0001c0001t0006g0145 a0001c0001t0006g0146 others(1): Show |
4 | 258 | 0.0155 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249574 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0166 | 1 | 267 | 0.0037 | -15 | c.68- others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121309270 | ATTTATTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(35): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0002c0002t0024a0002c0002t0025others(6): Show | a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0009 others(35): Show |
38 | 272 | 0.1397 | -15 | c.261 others(34): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121331144 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0019a0001c0003t0053others(1): Show | a0001c0003t0004g0254 a0001c0003t0004g0257 a0001c0003t0004g0258 others(11): Show |
14 | 51 | 0.2745 | -15 | c.423 others(32): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121354257 | CTCTCCTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp2 others(24): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0132 others(24): Show |
27 | 173 | 0.1561 | -15 | c.424 others(34): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121366173 | GATGTGCC others(8): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 272 | 0.0037 | -15 | c.486 others(30): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121396135 | CACCCCGC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 259 | 0.0039 | -15 | c.*82 others(26): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3262 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206243083 | AAGAGATC others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(73): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0019a0001c0002t0002others(23): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0034 others(73): Show |
76 | 180 | 0.4222 | -15 | c.67+ others(32): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |