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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A11_chr3_10811228_10945714 | 10811799 | TCCAAAAA others(18): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 19 | 0.0526 | -25 | c.-44 others(36): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 4428 | chr3 | TogoVar | |||||||
SLC6A11_chr3_10811228_10945714 | 10873384 | TGTATCCT others(18): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 208 | 0.0048 | -25 | c.757 others(42): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 187607 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01258.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0002c0002t0002others(2): Show | a0001c0001t0002g0160 a0001c0001t0002g0218 a0001c0001t0002g0225 others(10): Show |
14 | 418 | 0.0335 | -25 | c.*34 others(36): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 2473 | chr12 | TogoVar | |||||||
SLC6A16_chr19_49284638_49330191 | 49322817 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 9 | 0.1111 | -25 | c.-65 others(42): Show |
SLC6A16 | ENSG00000063127.16 | transcript | ENST00000335875.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
SLC6A6_chr3_14397606_14494349 | 14436531 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 2 | 0.5000 | -25 | c.-11 others(42): Show |
SLC6A6 | ENSG00000131389.18 | transcript | ENST00000622186.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC6A7_chr5_150185062_150216063 | 150207132 | TCTTTATT others(18): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0236 | 1 | 466 | 0.0021 | -25 | c.170 others(44): Show |
SLC6A7 | ENSG00000011083.9 | transcript | ENST00000230671.7 | protein_coding | 13/13 | chr5 | TogoVar | |||||||
SLC6A8_chrX_153682926_153701588 | 153696517 | GGCCTGCG others(18): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0050 | 1 | 288 | 0.0035 | -25 | c.*13 others(36): Show |
SLC6A8 | ENSG00000130821.17 | transcript | ENST00000253122.10 | protein_coding | 13/13 | 1304 | chrX | TogoVar | ||||||
SLC7A11_chr4_138159097_138247349 | 138237715 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0137 | a0001c0003t0137g0124 | 1 | 358 | 0.0028 | -25 | c.278 others(42): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SLC7A11_chr4_138159097_138247349 | 138237719 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0136 | a0001c0001t0013g0072 a0001c0001t0136g0073 |
2 | 358 | 0.0056 | -25 | c.278 others(42): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SLC8A3_chr14_70039215_70193951 | 70191996 | GAATAATA others(18): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0018a0001c0002t0013a0001c0005t0068 | a0001c0001t0018g0278 a0001c0002t0013g0268 a0001c0005t0068g0267 |
3 | 271 | 0.0111 | -25 | c.-37 others(36): Show |
SLC8A3 | ENSG00000100678.20 | transcript | ENST00000356921.7 | protein_coding | 3046 | chr14 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 481721 | GAACCCAC others(18): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0154 | 1 | 216 | 0.0046 | -25 | c.144 others(41): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 504900 | GGACGCCT others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0027others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(20): Show |
23 | 216 | 0.1065 | -25 | c.212 others(44): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 91850371 | CTACAGAG others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03017.hp2 HG03704.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0044a0001c0001t0048others(1): Show | a0001c0001t0007g0005 a0001c0001t0044g0006 a0001c0001t0048g0004 others(1): Show |
4 | 188 | 0.0213 | -25 | c.-35 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 3336 | chr15 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92016229 | ATAGATAG others(18): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02622.hp1 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0029a0001c0002t0001others(1): Show | a0001c0001t0008g0016 a0001c0001t0029g0130 a0001c0002t0001g0116 others(1): Show |
4 | 188 | 0.0213 | -25 | c.647 others(44): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69762174 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0022 | a0004c0022t0040 | a0004c0022t0040g0094 | 1 | 278 | 0.0036 | -25 | c.908 others(40): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLCO6A1_chr5_102366774_102504001 | 102374004 | TAATTAAT others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show |
7 | 340 | 0.0206 | -25 | c.201 others(42): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530404 | AGGAAGGA others(18): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0128 | 1 | 355 | 0.0028 | -25 | c.-60 others(44): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530418 | GAAGGAAG others(18): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01358.hp1 HG03491.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0008a0001c0001t0103a0002c0003t0001others(1): Show | a0001c0001t0008g0101 a0001c0001t0103g0052 a0002c0003t0001g0103 others(1): Show |
4 | 357 | 0.0112 | -25 | c.-60 others(44): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530419 | AAGGAAGG others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0006 | a0005c0006t0149 | a0005c0006t0149g0091 | 1 | 188 | 0.0053 | -25 | c.-60 others(44): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLFN12L_chr17_35459254_35542678 | 35530422 | GAAGGAAG others(18): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0009 | a0007c0009t0051 | a0007c0009t0051g0040 | 1 | 356 | 0.0028 | -25 | c.-60 others(44): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20291472 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01361.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0081 a0001c0001t0006g0082 a0001c0002t0001g0109 |
3 | 196 | 0.0153 | -25 | c.395 others(44): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291474 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG02155.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0006a0001c0003t0028 | a0001c0001t0015g0002 a0001c0003t0006g0100 a0001c0003t0028g0013 |
3 | 214 | 0.0140 | -25 | c.395 others(44): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291482 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 212 | 0.0047 | -25 | c.395 others(44): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168907925 | TTATATAT others(18): Show |
T | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 92 | 0.0109 | -25 | c.414 others(44): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168942738 | GTTTTGCC others(18): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01192.hp1 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(39): Show | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0041 others(46): Show |
49 | 132 | 0.3712 | -25 | c.414 others(44): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10431527 | AAAACCAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 130 | 0.0077 | -25 | c.-39 others(36): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 3777 | chr20 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47930575 | GAGGGGAG others(18): Show |
G | 5_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0003 | 1 | 308 | 0.0032 | -25 | c.-29 others(34): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/11 | 33820 | chr18 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136144392 | AGCAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0075 a0001c0001t0014g0130 a0001c0001t0014g0131 |
3 | 292 | 0.0103 | -25 | c.-24 others(44): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
SMAD6_chr15_66697236_66787849 | 66774833 | ATTTATTT others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01928.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0008others(7): Show | a0001c0001t0001g0115 a0001c0001t0001g0180 a0001c0001t0001g0204 others(25): Show |
30 | 156 | 0.1923 | -25 | c.953 others(42): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 5 | 0.2000 | -25 | c.119 others(42): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA1_chrX_129441506_129528490 | 129479653 | ATATTTTA others(18): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0080 a0001c0001t0001g0099 others(14): Show |
18 | 90 | 0.2000 | -25 | c.244 others(44): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 19/24 | chrX | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2155720 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0310 | 1 | 37 | 0.0270 | -25 | c.398 others(44): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23822957 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG04115.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0033 | a0001c0001t0019g0018 a0001c0001t0033g0318 |
3 | 178 | 0.0169 | -25 | c.796 others(42): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCD1_chr12_50080342_50105707 | 50085673 | TGGGGGAG others(18): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0034 a0001c0001t0006g0034 |
3 | 364 | 0.0082 | -25 | c.177 others(40): Show |
SMARCD1 | ENSG00000066117.15 | transcript | ENST00000394963.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70287820 | AAGAATTT others(18): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 364 | 0.0027 | -25 | c.105 others(44): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | chr9 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2080073 | TCAAAACA others(18): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02015.hp2 HG02040.hp2 others(10): Show |
a0006 | a0006c0005a0006c0025a0006c0032 | a0006c0005t0004a0006c0005t0006a0006c0005t0007others(4): Show | a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 others(10): Show |
13 | 97 | 0.1340 | -25 | c.368 others(44): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2264074 | GCTCCCAG others(18): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(53): Show |
a0003a0008a0017others(1): Show | a0003c0003a0008c0009a0017c0017others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(6): Show | a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 others(53): Show |
56 | 276 | 0.2029 | -25 | c.266 others(46): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59219059 | ATTTTTTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 NA18977.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 53 | 0.0566 | -25 | c.*40 others(36): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 3830 | chr17 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576672 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0301 a0001c0001t0003g0312 |
2 | 337 | 0.0059 | -25 | c.76- others(40): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576674 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0159 a0001c0001t0003g0185 a0001c0001t0003g0207 others(1): Show |
4 | 339 | 0.0118 | -25 | c.76- others(40): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576676 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0130 a0001c0001t0003g0167 a0001c0001t0003g0239 others(1): Show |
4 | 340 | 0.0118 | -25 | c.76- others(40): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576678 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 342 | 0.0029 | -25 | c.76- others(40): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576684 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0092 | 1 | 174 | 0.0057 | -25 | c.76- others(40): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TAAAAAAA others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | 19 | 0.1053 | -25 | c.129 others(40): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
SMIM2_chr13_44138150_44166257 | 44142132 | CCTCGGCT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp2 HG04204.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(3): Show |
6 | 7 | 0.8571 | -25 | c.*17 others(36): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109958 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 330 | 0.0121 | -25 | c.*23 others(36): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2365 | chr19 | TogoVar | |||||||
SMN1_chr5_70920087_70958015 | 70954878 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 36 | 0.0278 | -25 | c.*24 others(36): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1864 | chr5 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168537803 | TGGATGCA others(18): Show |
T | intron_variant | MODIFIER | NA18945.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0015 |
2 | 178 | 0.0112 | -25 | c.464 others(42): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168610757 | CATCATTT others(18): Show |
C | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0002a0002c0010t0001 | a0001c0002t0002g0038 a0002c0010t0001g0130 |
2 | 178 | 0.0112 | -25 | c.907 others(42): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4168883 | CTATTTTA others(18): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG02965.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0352 a0001c0001t0001g0378 others(19): Show |
22 | 87 | 0.2529 | -25 | c.-26 others(42): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |