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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMAD4_chr18_51025213_51090042 | 51073386 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0261 a0001c0001t0026g0119 |
2 | 302 | 0.0066 | -10 | c.130 others(29): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073388 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG02602.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0045 others(20): Show |
25 | 302 | 0.0828 | -10 | c.130 others(29): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136165662 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(55): Show |
70 | 294 | 0.2381 | -10 | c.775 others(27): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMAD6_chr15_66697236_66787849 | 66774833 | ATTTATTT others(3): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02451.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0006g0081 |
3 | 336 | 0.0089 | -10 | c.953 others(27): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD9_chr13_36839831_36925238 | 36840834 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 358 | 0.0028 | -10 | c.*78 others(21): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 3996 | chr13 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36845110 | GTGTGTAT others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0100 | a0001c0004t0100g0269 | 1 | 358 | 0.0028 | -10 | c.*35 others(21): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 7/7 | 3556 | chr13 | TogoVar | ||||||
SMAD9_chr13_36839831_36925238 | 36900684 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(3): Show | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0003g0157 others(4): Show |
7 | 358 | 0.0196 | -10 | c.-18 others(31): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36905774 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0291 a0001c0001t0005g0167 a0001c0001t0014g0201 others(2): Show |
5 | 358 | 0.0140 | -10 | c.-18 others(31): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51248430 | ACACACTC others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0227 | 1 | 410 | 0.0024 | -10 | c.35- others(25): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51248434 | ACTCTCTC others(3): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0016 | 1 | 410 | 0.0024 | -10 | c.35- others(25): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70682170 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG01975.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0004g0287 a0002c0002t0001g0008 a0002c0002t0001g0009 others(23): Show |
26 | 306 | 0.0850 | -10 | c.118 others(29): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0125 a0001c0001t0001g0127 others(30): Show |
34 | 306 | 0.1111 | -10 | c.119 others(27): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70793025 | AATTTTAT others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0017 a0001c0001t0010g0110 |
2 | 306 | 0.0065 | -10 | c.495 others(27): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70808902 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 306 | 0.0033 | -10 | c.576 others(29): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70858287 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0118 a0001c0001t0009g0119 |
2 | 306 | 0.0065 | -10 | c.126 others(25): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA1_chrX_129441506_129528490 | 129479653 | ATATTTTA others(3): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0122 others(6): Show |
9 | 279 | 0.0323 | -10 | c.244 others(29): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 19/24 | chrX | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2084370 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG02615.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0008a0002c0027a0002c0048others(4): Show | a0001c0008t0001a0001c0008t0002a0002c0027t0001others(5): Show | a0001c0008t0001g0093 a0001c0008t0002g0295 a0002c0027t0001g0309 others(5): Show |
8 | 316 | 0.0253 | -10 | c.252 others(27): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2102132 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00642.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0008a0001c0025a0002c0010others(9): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0004others(15): Show | a0001c0008t0001g0086 a0001c0008t0002g0290 a0001c0008t0002g0295 others(26): Show |
29 | 316 | 0.0918 | -10 | c.312 others(27): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2145304 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0055a0002c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0055t0001others(7): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105 others(14): Show |
17 | 316 | 0.0538 | -10 | c.398 others(31): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2155720 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01928.hp1 HG02559.hp1 |
a0003a0004a0012 | a0003c0006a0004c0026a0012c0068 | a0003c0006t0002a0004c0026t0002a0012c0068t0002 | a0003c0006t0002g0210 a0004c0026t0002g0118 a0012c0068t0002g0291 |
3 | 316 | 0.0095 | -10 | c.398 others(29): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2174924 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 316 | 0.0032 | -10 | c.425 others(29): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2182478 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 |
2 | 316 | 0.0063 | -10 | c.446 others(27): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 10974681 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0271 | 1 | 286 | 0.0035 | -10 | c.-31 others(27): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11009007 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG02922.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(2): Show | a0001c0002t0001g0208 a0001c0003t0001g0006 a0001c0007t0001g0017 others(2): Show |
5 | 286 | 0.0175 | -10 | c.212 others(29): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCA5_chr4_143508702_143562486 | 143533498 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp2 others(78): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0003t0007a0001c0003t0013others(8): Show | a0001c0003t0003g0001 a0001c0003t0003g0048 a0001c0003t0003g0049 others(48): Show |
81 | 370 | 0.2189 | -10 | c.115 others(29): Show |
SMARCA5 | ENSG00000153147.6 | transcript | ENST00000283131.4 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCA5_chr4_143508702_143562486 | 143549362 | GGGCTGCT others(3): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0180 | 1 | 370 | 0.0027 | -10 | c.298 others(27): Show |
SMARCA5 | ENSG00000153147.6 | transcript | ENST00000283131.4 | protein_coding | 22/23 | chr4 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216411392 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02257.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0026 a0001c0001t0001g0309 a0001c0001t0001g0331 others(2): Show |
5 | 408 | 0.0123 | -10 | c.-13 others(21): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 1091 | chr2 | TogoVar | |||||||
SMARCB1_chr22_23781966_23843009 | 23818137 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0264 others(74): Show |
78 | 363 | 0.2149 | -10 | c.795 others(27): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23830649 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(3): Show | a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 others(31): Show |
34 | 363 | 0.0937 | -10 | c.987 others(27): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23833847 | GATAAGGC others(3): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 363 | 0.0028 | -10 | c.111 others(27): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47601698 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 219 | 0.0046 | -10 | c.304 others(29): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47624894 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 219 | 0.0046 | -10 | c.264 others(29): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 24/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47636786 | ATATGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01099.hp1 others(15): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0002a0001c0002t0002a0003c0006t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0096 a0001c0001t0002g0177 others(15): Show |
18 | 219 | 0.0822 | -10 | c.237 others(27): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 22/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47636788 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 219 | 0.0046 | -10 | c.237 others(27): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 22/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47698005 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 219 | 0.0046 | -10 | c.116 others(29): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 11/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47740178 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02615.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0009t0002g0088 |
3 | 219 | 0.0137 | -10 | c.402 others(27): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SMARCC2_chr12_56157359_56194483 | 56167951 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0002g0011 a0001c0001t0002g0139 |
5 | 250 | 0.0200 | -10 | c.285 others(26): Show |
SMARCC2 | ENSG00000139613.12 | transcript | ENST00000550164.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
SMARCD2_chr17_63827081_63847685 | 63841592 | ACACTGAG others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 4 | 354 | 0.0113 | -10 | c.216 others(25): Show |
SMARCD2 | ENSG00000108604.18 | transcript | ENST00000448276.7 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SMARCD3_chr7_151233780_151253694 | 151241089 | AGAGTAGA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02622.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0034 |
14 | 382 | 0.0367 | -10 | c.939 others(25): Show |
SMARCD3 | ENSG00000082014.17 | transcript | ENST00000262188.13 | protein_coding | 8/12 | chr7 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45388243 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0271 | 1 | 360 | 0.0028 | -10 | c.173 others(29): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45388986 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 360 | 0.0028 | -10 | c.173 others(27): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45412498 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 |
a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0051 a0009c0013t0001g0052 |
2 | 360 | 0.0056 | -10 | c.109 others(25): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
SMC2_chr9_104089309_104146419 | 104094899 | ATTGTGGA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(156): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 others(99): Show |
159 | 278 | 0.5719 | -10 | c.-62 others(25): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 1/24 | chr9 | TogoVar | |||||||
SMC2_chr9_104089309_104146419 | 104115512 | TTGCGGTA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 others(18): Show |
29 | 278 | 0.1043 | -10 | c.167 others(27): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110599453 | TCTGCCCC others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01081.hp1 others(88): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 others(63): Show |
91 | 328 | 0.2774 | -10 | c.226 others(27): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70308590 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0009 | a0002c0009t0014 | a0002c0009t0014g0097 | 1 | 366 | 0.0027 | -10 | c.157 others(29): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70309318 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0337 | 1 | 366 | 0.0027 | -10 | c.157 others(29): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17691233 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 others(1): Show |
4 | 254 | 0.0158 | -10 | c.267 others(29): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17714083 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 254 | 0.0039 | -10 | c.173 others(27): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17739879 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01358.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0211 a0001c0001t0002g0226 a0001c0001t0003g0098 others(6): Show |
9 | 254 | 0.0354 | -10 | c.239 others(27): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | TogoVar |