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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC12A7_chr5_1045384_1117063 | 1071989 | CAGCCCCA others(44): Show |
C | intron_variant | MODIFIER | NA19065.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0117 a0002c0004t0001g0041 |
2 | 117 | 0.0171 | -51 | c.224 others(70): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072554 | CAGCCCCA others(44): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0041 | 1 | 116 | 0.0086 | -51 | c.224 others(70): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072791 | ATGCAGCC others(44): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0093 | 1 | 118 | 0.0085 | -51 | c.224 others(68): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59681732 | TATGTATA others(44): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0130 a0001c0001t0007g0162 a0001c0001t0007g0191 others(2): Show |
5 | 322 | 0.0155 | -51 | c.196 others(68): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59713958 | ACAGAGAA others(44): Show |
A | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 350 | 0.0029 | -51 | c.-45 others(62): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 4109 | chr10 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339129 | GTTATATA others(44): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0136 a0001c0001t0001g0247 a0001c0001t0006g0248 |
3 | 448 | 0.0067 | -51 | c.86+ others(64): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19563749 | CCCTTCCT others(44): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0017 | a0001c0017t0025 | a0001c0017t0025g0019 | 1 | 185 | 0.0054 | -51 | c.134 others(70): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
SLC25A26_chr3_66216001_66383923 | 66383666 | TTCTTGAC others(44): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01123.hp2 others(20): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(20): Show |
23 | 296 | 0.0777 | -51 | c.*58 others(62): Show |
SLC25A26 | ENSG00000144741.19 | transcript | ENST00000354883.11 | protein_coding | 4744 | chr3 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84928577 | TCTTTCTT others(44): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0363 | 1 | 394 | 0.0025 | -51 | c.108 others(70): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | chr15 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234308577 | TCCCCAGA others(44): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02602.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0002 | a0001c0001t0001g0088 a0001c0001t0013g0112 a0001c0002t0002g0123 |
3 | 67 | 0.0448 | -51 | c.609 others(66): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570076 | TCATGCGA others(44): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(75): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(67): Show |
78 | 349 | 0.2235 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570081 | CGACACAC others(44): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0133 | 1 | 309 | 0.0032 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570174 | ATTGCCAT others(44): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0067 a0001c0001t0009g0303 |
2 | 199 | 0.0101 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570231 | ATGTCATG others(44): Show |
A | intron_variant | MODIFIER | NA18940.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 a0001c0001t0003g0297 |
2 | 350 | 0.0057 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570239 | TGACACAC others(44): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02965.hp1 NA18944.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0042a0001c0007t0008 | a0001c0001t0001g0141 a0001c0001t0042g0137 a0001c0007t0008g0046 |
3 | 329 | 0.0091 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570264 | CGGCAGGC others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(91): Show |
102 | 353 | 0.2890 | -51 | c.142 others(70): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81253711 | ATCACCAT others(44): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(106): Show |
a0001a0003a0004others(7): Show | a0001c0002a0001c0003a0001c0004others(24): Show | a0001c0002t0003a0001c0003t0001a0001c0003t0003others(34): Show | a0001c0002t0003g0185 a0001c0003t0001g0002 a0001c0003t0001g0018 others(100): Show |
109 | 212 | 0.5142 | -51 | c.128 others(68): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 11/15 | chr17 | TogoVar | |||||||
SLC39A14_chr8_22362278_22427736 | 22396385 | TAGAGAGA others(44): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0215 | 1 | 245 | 0.0041 | -51 | c.-15 others(68): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203432 | GGAGAGAG others(44): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0041 | 1 | 157 | 0.0064 | -51 | c.*80 others(62): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3741 | chr8 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79949400 | TCACGCCT others(44): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 350 | 0.0029 | -51 | c.203 others(68): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
SLC7A11_chr4_138159097_138247349 | 138242251 | ACTCAGAA others(44): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0016 | a0005c0016t0053 | a0005c0016t0053g0015 | 1 | 362 | 0.0028 | -51 | c.-23 others(60): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/12 | 183 | chr4 | TogoVar | ||||||
SLCO1A2_chr12_21259600_21339917 | 21330290 | CGAGACCA others(44): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 308 | 0.0032 | -51 | c.60+ others(66): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44953463 | GTCCGGGC others(44): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 332 | 0.0030 | -51 | c.284 others(68): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMG6_chr17_2054843_2308785 | 2078901 | AAAGATAG others(44): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02895.hp2 others(6): Show |
a0007a0020 | a0007c0007a0020c0031 | a0007c0007t0001a0007c0007t0002a0007c0007t0014others(1): Show | a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 others(6): Show |
9 | 276 | 0.0326 | -51 | c.368 others(70): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168200 | CGAAAGAA others(44): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 369 | 0.0054 | -51 | c.-31 others(62): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2993 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593195 | ATCTTTCT others(44): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02970.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0007a0001c0013t0002 | a0001c0002t0007g0053 a0001c0013t0002g0033 |
2 | 177 | 0.0113 | -51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593823 | GCCGAGCT others(44): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 176 | 0.0057 | -51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593925 | GCCGAGCT others(44): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 172 | 0.0058 | -51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594395 | GGAGCTCC others(44): Show |
G | intron_variant | MODIFIER | NA18973.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0111 |
2 | 115 | 0.0174 | -51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594992 | GGCATCTT others(44): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0098 others(53): Show |
56 | 178 | 0.3146 | -51 | c.638 others(68): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88065221 | CCCCCCTC others(44): Show |
C | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02451.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0006 | a0001c0003t0004a0001c0004t0001a0002c0006t0001 | a0001c0003t0004g0307 a0001c0004t0001g0292 a0002c0006t0001g0291 others(2): Show |
5 | 335 | 0.0149 | -51 | c.-26 others(62): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2603 | chr2 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241052750 | CGGGGGGC others(44): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03139.hp2 others(3): Show |
a0001a0002a0021 | a0001c0068a0002c0010a0002c0036others(1): Show | a0001c0068t0018a0002c0010t0016a0002c0010t0019others(2): Show | a0001c0068t0018g0320 a0002c0010t0016g0033 a0002c0010t0016g0157 others(3): Show |
6 | 340 | 0.0176 | -51 | c.208 others(68): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1106297 | GGGTGCAG others(44): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0002c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 others(43): Show |
46 | 188 | 0.2447 | -51 | c.325 others(68): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125458830 | AAAAAAAA others(44): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 358 | 0.0028 | -51 | c.945 others(68): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7387166 | CACACATG others(44): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(25): Show | a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 others(27): Show |
30 | 138 | 0.2174 | -51 | c.481 others(68): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16132294 | GGAAGGAA others(44): Show |
G | intron_variant | MODIFIER | NA18969.hp2 NA18977.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0003t0002g0081 others(1): Show |
4 | 206 | 0.0194 | -51 | c.778 others(70): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132298 | GGAAGGAA others(44): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 208 | 0.0048 | -51 | c.778 others(70): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPANXB1_chrX_140997594_141008706 | 141007690 | AGAGCATA others(44): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 299 | 0.0033 | -51 | c.*40 others(62): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 3985 | chrX | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48381719 | ATTGATCA others(44): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 320 | 0.0031 | -51 | c.909 others(68): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101478888 | GCACTTTG others(44): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0086 |
3 | 396 | 0.0076 | -51 | c.98- others(64): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347532 | ACACACTC others(44): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 411 | 0.0024 | -51 | c.135 others(70): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13167302 | ATAATTAT others(44): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG02015.hp2 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0033a0001c0001t0039a0001c0001t0045others(4): Show | a0001c0001t0033g0045 a0001c0001t0039g0122 a0001c0001t0045g0163 others(4): Show |
7 | 290 | 0.0241 | -51 | c.*24 others(62): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 12/12 | 2447 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SRGAP2C_chr1_121179975_121397874 | 121396573 | CGGCTTTT others(44): Show |
C | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 271 | 0.0037 | -51 | c.*87 others(62): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3700 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240076 | GTGTGTGT others(44): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 278 | 0.0036 | -51 | c.856 others(66): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
ST6GAL2_chr2_106796600_106891167 | 106834520 | AGCAAGGG others(44): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 370 | 0.0027 | -51 | c.944 others(66): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
ST8SIA1_chr12_22188391_22339707 | 22320952 | AGAAAGAG others(44): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0147a0001c0001t0159 | a0001c0001t0033g0087 a0001c0001t0033g0088 a0001c0001t0147g0089 others(1): Show |
4 | 279 | 0.0143 | -51 | c.236 others(70): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564456 | TTCTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 |
a0004 | a0004c0007 | a0004c0007t0001a0004c0007t0012 | a0004c0007t0001g0263 a0004c0007t0012g0265 |
2 | 374 | 0.0053 | -51 | c.-47 others(70): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130843368 | ATATATAT others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0035a0002c0002t0037 | a0002c0002t0035g0313 a0002c0002t0037g0312 |
2 | 378 | 0.0053 | -51 | c.-43 others(62): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4119 | chr12 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102568892 | AAAAAAAT others(44): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0154 a0001c0001t0021g0153 |
2 | 240 | 0.0083 | -51 | c.454 others(70): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SULT4A1_chr22_43819509_43867513 | 43822742 | AGTGTGTG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0252 a0001c0001t0004g0102 |
2 | 118 | 0.0169 | -51 | c.*32 others(62): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1766 | chr22 | TogoVar |