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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMG6_chr17_2054843_2308785 | 2130266 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0019 | a0019c0015 | a0019c0015t0004 | a0019c0015t0004g0134 | 1 | 87 | 0.0115 | 43 | c.335 others(64): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39619751 | T | TTATTCTA others(36): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG02027.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0202 a0001c0001t0003g0020 a0001c0001t0003g0159 others(14): Show |
17 | 316 | 0.0538 | 43 | c.-35 others(62): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM3_chr5_150773757_150801734 | 150797318 | A | ATATATAT others(36): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 170 | 0.0118 | 43 | c.*16 others(54): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 585 | chr5 | TogoVar | |||||||
SMIM3_chr5_150773757_150801734 | 150797318 | A | ATATATAT others(36): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 1 | 169 | 0.0059 | 43 | c.*16 others(54): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 585 | chr5 | TogoVar | |||||||
SMPD1_chr11_6385474_6399996 | 6387203 | C | CGACAGAG others(36): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG01975.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 |
2 | 335 | 0.0060 | 43 | c.-33 others(54): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3270 | chr11 | TogoVar | |||||||
SMPD4_chr2_130146408_130186602 | 130151887 | G | GCTTTGGG others(36): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0056 | 1 | 330 | 0.0030 | 43 | c.*62 others(52): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 20/20 | 667 | chr2 | TogoVar | ||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATGTGTGT others(36): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0256 | 1 | 79 | 0.0127 | 43 | c.153 others(62): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAPIN_chr1_153653703_153666852 | 153659367 | T | TCCATCCC others(36): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 398 | 0.0025 | 43 | c.191 others(56): Show |
SNAPIN | ENSG00000143553.11 | transcript | ENST00000368685.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43322951 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 7 | 0.1429 | 43 | c.590 others(60): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 124 | 0.0081 | 43 | c.580 others(62): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69292435 | T | TATATATT others(36): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 181 | 0.0055 | 43 | c.134 others(62): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(36): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0017 a0001c0001t0040g0005 |
2 | 35 | 0.0571 | 43 | c.-10 others(64): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113110 | G | GTGTACTG others(36): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(40): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(11): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0063 others(40): Show |
43 | 188 | 0.2287 | 43 | c.325 others(62): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221694 | T | TCTCTCTC others(36): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0151 | 1 | 114 | 0.0088 | 43 | c.719 others(62): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNX5_chr20_17936600_17973794 | 17962611 | T | TAAAGACT others(36): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0143 | 1 | 338 | 0.0030 | 43 | c.52- others(58): Show |
SNX5 | ENSG00000089006.17 | transcript | ENST00000377759.9 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557557 | T | TTCTTCTT others(36): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 302 | 0.0033 | 43 | c.*55 others(54): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3535 | chr14 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7561511 | T | TCCATCCA others(36): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(64): Show | a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0168 others(72): Show |
75 | 168 | 0.4464 | 43 | c.648 others(62): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7561516 | C | CCATCTAC others(36): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03195.hp1 others(1): Show |
a0001a0005a0016 | a0001c0001a0005c0020a0005c0021others(1): Show | a0001c0001t0006a0005c0020t0017a0005c0021t0056others(1): Show | a0001c0001t0006g0125 a0005c0020t0017g0037 a0005c0021t0056g0103 others(1): Show |
4 | 168 | 0.0238 | 43 | c.648 others(62): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX11_chr2_5687384_5706385 | 5705396 | G | GGGAGGCT others(36): Show |
downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0000 | 1 | 164 | 0.0061 | 43 | c.*11 others(56): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4012 | chr2 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615420 | A | AAAGAAAG others(36): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 313 | 0.0032 | 43 | c.-58 others(52): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 408 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAGAAAG others(36): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 115 | 0.0087 | 43 | c.-58 others(52): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615430 | A | AAGAAAGA others(36): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 315 | 0.0032 | 43 | c.-57 others(52): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 398 | chr20 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(36): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 136 | 0.0074 | 43 | c.-18 others(54): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAT others(36): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0035 |
2 | 137 | 0.0146 | 43 | c.-18 others(54): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600765 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 291 | 0.0034 | 43 | c.-18 others(54): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1741 | chr17 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102646923 | G | GAAAGAAA others(36): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 43 | c.-38 others(54): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3395 | chr7 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228139935 | T | TTTCTTTC others(36): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 320 | 0.0031 | 43 | c.33- others(58): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148123445 | C | CTATATAT others(36): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 217 | 0.0046 | 43 | c.253 others(60): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45728398 | A | AAATAGCA others(36): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 NA19080.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 a0002c0002t0001g0066 |
2 | 456 | 0.0044 | 43 | c.*27 others(54): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2569 | chr20 | TogoVar | |||||||
SPINT4_chr20_45717347_45730830 | 45728402 | A | AGCAAAAT others(36): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 456 | 0.0022 | 43 | c.*27 others(54): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2573 | chr20 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 30 | 0.0333 | 43 | c.180 others(60): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAACAAAC others(36): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0342 a0001c0001t0003g0330 |
2 | 31 | 0.0645 | 43 | c.180 others(60): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4494974 | T | TAAAAAAA others(36): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0131 | 1 | 42 | 0.0238 | 43 | c.-40 others(54): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3906 | chr17 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 35 | 0.0286 | 43 | c.-12 others(54): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2348391 | A | ACACACAC others(36): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0150 | 1 | 411 | 0.0024 | 43 | c.135 others(62): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2348639 | G | GTCATTCG others(36): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 others(1): Show |
4 | 357 | 0.0112 | 43 | c.135 others(62): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2348721 | C | CGCTCTCA others(36): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 412 | 0.0024 | 43 | c.135 others(62): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2349494 | T | TTCTCATT others(36): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0093 | 1 | 236 | 0.0042 | 43 | c.135 others(62): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45587049 | T | TTATTTTA others(36): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 356 | 0.0028 | 43 | c.649 others(60): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63949072 | C | CCATATAT others(36): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0090 | 1 | 167 | 0.0060 | 43 | c.68- others(60): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRMS_chr20_63533489_63552749 | 63536087 | C | CGCCCCCC others(36): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0003 | 1 | 353 | 0.0028 | 43 | c.*46 others(54): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2401 | chr20 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAAAATA others(36): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 others(1): Show |
4 | 100 | 0.0400 | 43 | c.-34 others(60): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76227020 | A | ACAGCCAA others(36): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01243.hp1 others(26): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show |
29 | 174 | 0.1667 | 43 | c.-39 others(60): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0067 | 1 | 190 | 0.0053 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0019 | 1 | 190 | 0.0053 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18960.hp2 |
a0005a0010 | a0005c0018a0010c0025 | a0005c0018t0001a0010c0025t0001 | a0005c0018t0001g0238 a0010c0025t0001g0102 |
2 | 191 | 0.0105 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 190 | 0.0053 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0052 | 1 | 190 | 0.0053 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 190 | 0.0053 | 43 | c.138 others(60): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77070774 | A | ATATATAT others(36): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 88 | 0.0114 | 43 | c.*75 others(54): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 3229 | chr1 | TogoVar |