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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCML1_chrX_17732493_17759985 | 17737422 | GCCCCCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show |
47 | 50 | 0.9400 | -7 | c.-37 others(16): Show |
SCML1 | ENSG00000047634.15 | transcript | ENST00000380041.8 | protein_coding | 70 | chrX | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38699587 | AAGAAAGT | A | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0014 | a0001c0004t0001a0002c0014t0001 | a0001c0004t0001g0104 a0002c0014t0001g0050 a0002c0014t0001g0087 others(2): Show |
5 | 370 | 0.0135 | -7 | c.465 others(26): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 27/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38772718 | CAACAACA | C | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG02572.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0018a0002c0012others(2): Show | a0001c0003t0002a0001c0018t0003a0002c0012t0001others(2): Show | a0001c0003t0002g0133 a0001c0018t0003g0007 a0001c0018t0003g0008 others(3): Show |
6 | 361 | 0.0166 | -7 | c.471 others(24): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166051608 | GCTAATCA | G | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0033 a0001c0004t0014g0034 a0001c0004t0014g0035 others(2): Show |
5 | 354 | 0.0141 | -7 | c.964 others(22): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165303270 | GTTTTTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG04228.hp2 others(6): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(6): Show |
9 | 47 | 0.1915 | -7 | c.387 others(24): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN3A_chr2_165082526_165209050 | 165163220 | AGTCTCAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp2 others(98): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 others(97): Show |
101 | 312 | 0.3237 | -7 | c.694 others(22): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555090 | TATATATA | T | intron_variant | MODIFIER | NA18957.hp1 NA18959.hp2 NA18974.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0002a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0001t0002g0174 a0001c0003t0002g0068 a0001c0003t0004g0178 others(1): Show |
4 | 335 | 0.0119 | -7 | c.454 others(24): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555092 | TATATATA | T | intron_variant | MODIFIER | HG02015.hp2 NA18945.hp2 NA19005.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0004a0001c0002t0001a0002c0006t0005 | a0001c0001t0004g0328 a0001c0002t0001g0236 a0002c0006t0005g0248 |
3 | 334 | 0.0090 | -7 | c.454 others(24): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166418098 | TCTCTTAG | T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01070.hp2 others(18): Show |
a0005a0006a0024 | a0005c0005a0006c0006a0024c0031 | a0005c0005t0001a0005c0005t0021a0006c0006t0006others(2): Show | a0005c0005t0001g0004 a0005c0005t0001g0005 a0005c0005t0001g0034 others(16): Show |
21 | 392 | 0.0536 | -7 | c.313 others(26): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 20/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51640212 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp2 HG01928.hp1 HG01934.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007a0001c0002t0026 | a0001c0002t0001g0012 a0001c0002t0001g0055 a0001c0002t0001g0060 others(9): Show |
12 | 17 | 0.7059 | -7 | c.-54 others(26): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166244977 | CAAAAATT | C | intron_variant | MODIFIER | HG01496.hp1 HG02922.hp1 HG03225.hp2 others(1): Show |
a0001a0011 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0012a0001c0005t0012a0001c0007t0012others(1): Show | a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 others(1): Show |
4 | 294 | 0.0136 | -7 | c.347 others(26): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 18/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166297196 | CAAAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 NA18942.hp1 NA18952.hp2 others(3): Show |
a0001 | a0001c0007a0001c0011a0001c0018others(1): Show | a0001c0007t0001a0001c0007t0005a0001c0011t0005others(2): Show | a0001c0007t0001g0266 a0001c0007t0005g0259 a0001c0011t0005g0045 others(3): Show |
6 | 57 | 0.1053 | -7 | c.902 others(24): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166341117 | TGGGCTGG | T | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02976.hp2 others(2): Show |
a0001a0004a0022 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0021a0001c0005t0002a0001c0007t0005others(2): Show | a0001c0002t0021g0011 a0001c0005t0002g0074 a0001c0007t0005g0073 others(2): Show |
5 | 294 | 0.0170 | -7 | c.-50 others(26): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23305527 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01074.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0152 a0001c0001t0001g0193 others(19): Show |
22 | 304 | 0.0724 | -7 | c.-9+ others(22): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23199663 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 a0001c0001t0006g0067 a0001c0001t0006g0124 others(6): Show |
10 | 86 | 0.1163 | -7 | c.107 others(26): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52925807 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0002t0006a0001c0003t0008others(2): Show | a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 others(10): Show |
13 | 224 | 0.0580 | -7 | c.-15 others(18): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1468 | chr1 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52957197 | TGCCCCTG | T | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 NA21309.hp2 |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0011 | a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048 |
3 | 106 | 0.0283 | -7 | c.396 others(24): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987004 | ATATTTTT | A | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0008others(4): Show | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0013 others(15): Show |
18 | 272 | 0.0662 | -7 | c.974 others(24): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987006 | ATTTTTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01993.hp2 others(15): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0004t0004others(1): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0006 others(15): Show |
18 | 231 | 0.0779 | -7 | c.974 others(24): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53021641 | CTTTCTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0251 a0001c0001t0002g0010 a0001c0001t0002g0011 others(92): Show |
95 | 278 | 0.3417 | -7 | c.123 others(26): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRN3_chr2_174390730_174434575 | 174430514 | CTGGAGTG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 others(151): Show |
221 | 362 | 0.6105 | -7 | c.*26 others(18): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 940 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43321910 | CTTATAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0004others(4): Show | a0001c0008a0001c0010a0001c0018others(10): Show | a0001c0008t0019a0001c0008t0030a0001c0010t0070others(14): Show | a0001c0008t0019g0029 a0001c0008t0030g0010 a0001c0010t0070g0037 others(16): Show |
19 | 278 | 0.0683 | -7 | c.221 others(24): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 2/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43347273 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01346.hp2 HG01891.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0008others(16): Show | a0001c0004t0005a0001c0004t0016a0001c0004t0035others(29): Show | a0001c0004t0005g0232 a0001c0004t0016g0008 a0001c0004t0035g0248 others(33): Show |
36 | 126 | 0.2857 | -7 | c.-40 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3902 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054716 | TATATATA | T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03130.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0003a0003c0009 | a0001c0002t0010a0003c0003t0008a0003c0003t0009others(1): Show | a0001c0002t0010g0042 a0003c0003t0008g0164 a0003c0003t0009g0199 others(1): Show |
4 | 354 | 0.0113 | -7 | c.120 others(24): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054718 | TATATATA | T | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG03130.hp1 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0024a0003c0003t0004a0003c0003t0012 | a0002c0001t0024g0222 a0003c0003t0004g0163 a0003c0003t0012g0182 |
3 | 354 | 0.0085 | -7 | c.120 others(24): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65532426 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02647.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 others(2): Show |
15 | 181 | 0.0829 | -7 | c.111 others(24): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCYL1_chr11_65520083_65543704 | 65542381 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 others(1): Show |
12 | 139 | 0.0863 | -7 | c.*38 others(18): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 3678 | chr11 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169851004 | TTTATTTG | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(69): Show |
a0001a0008 | a0001c0001a0001c0006a0008c0014 | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0021 others(38): Show |
72 | 344 | 0.2093 | -7 | c.*27 others(18): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2702 | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169852395 | ATAGTAAT | A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01243.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 a0001c0001t0009g0037 a0001c0001t0009g0166 |
10 | 416 | 0.0240 | -7 | c.*13 others(18): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 1311 | chr1 | TogoVar | ||||||
SDC1_chr2_20195797_20230130 | 20200212 | CCTGGGGT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(294): Show |
401 | 410 | 0.9780 | -7 | c.*25 others(18): Show |
SDC1 | ENSG00000115884.11 | transcript | ENST00000254351.9 | protein_coding | 584 | chr2 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96538481 | AGTCCAAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01891.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0139 a0001c0001t0001g0146 others(18): Show |
21 | 332 | 0.0633 | -7 | c.60+ others(24): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC3_chr1_30864466_30913758 | 30908601 | CGCGGGCG | C | 5_prime_UTR_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG02896.hp2 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0013 | a0001c0001t0029a0001c0001t0067a0003c0003t0066others(1): Show | a0001c0001t0029g0301 a0001c0001t0067g0298 a0003c0003t0066g0299 others(1): Show |
4 | 379 | 0.0106 | -7 | c.-22 others(14): Show |
SDC3 | ENSG00000162512.16 | transcript | ENST00000339394.7 | protein_coding | 1/5 | 16 | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243348202 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0002t0001g0117 others(47): Show |
50 | 161 | 0.3106 | -7 | c.147 others(26): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243432285 | AACCAGAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01106.hp2 others(32): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0005c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show |
35 | 188 | 0.1862 | -7 | c.198 others(26): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243452409 | CATCTCTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0065 |
3 | 152 | 0.0197 | -7 | c.198 others(28): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | chr1 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0105 |
8 | 179 | 0.0447 | -7 | c.37- others(22): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97142890 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG02129.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0082 a0001c0001t0002g0083 others(3): Show |
7 | 266 | 0.0263 | -7 | c.174 others(26): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHB_chr1_17013722_17059032 | 17046896 | TAGTAGAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 others(3): Show |
6 | 366 | 0.0164 | -7 | c.73- others(22): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161326542 | TCTCTCTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(66): Show |
73 | 328 | 0.2226 | -7 | c.78- others(22): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161330996 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(82): Show |
91 | 234 | 0.3889 | -7 | c.179 others(24): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3301143 | ACGGCGGG | A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(21): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0005others(22): Show | a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0005g0102 others(22): Show |
25 | 116 | 0.2155 | -7 | c.-44 others(16): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 108 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3321713 | TCCCTCTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00639.hp1 others(50): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0007others(43): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0005others(47): Show | a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0005g0102 others(50): Show |
53 | 116 | 0.4569 | -7 | c.298 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3543647 | TCAGCAGG | T | intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001a0002 | a0001c0049a0002c0041 | a0001c0049t0036a0002c0041t0007 | a0001c0049t0036g0109 a0002c0041t0007g0108 |
2 | 116 | 0.0172 | -7 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3567395 | AAGCACTG | A | intron_variant | MODIFIER | HG03516.hp1 HG03688.hp1 |
a0027a0030 | a0027c0089a0030c0086 | a0027c0089t0047a0030c0086t0046 | a0027c0089t0047g0056 a0030c0086t0046g0012 |
2 | 116 | 0.0172 | -7 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3580968 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01361.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0008a0001c0017a0001c0060others(14): Show | a0001c0008t0007a0001c0017t0011a0001c0060t0041others(14): Show | a0001c0008t0007g0067 a0001c0017t0011g0051 a0001c0017t0011g0052 others(15): Show |
18 | 61 | 0.2951 | -7 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3662041 | ATTTTTTT | A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01123.hp1 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0004a0001c0005a0001c0032others(6): Show | a0001c0004t0001a0001c0005t0001a0001c0005t0051others(9): Show | a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 others(9): Show |
12 | 45 | 0.2667 | -7 | c.713 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3676322 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp1 others(53): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0004a0001c0007others(47): Show | a0001c0002t0004a0001c0002t0040a0001c0004t0005others(51): Show | a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0004t0005g0102 others(53): Show |
56 | 113 | 0.4956 | -7 | c.713 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3679566 | CAAAAAAG | C | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp1 NA20129.hp2 |
a0027a0032a0035 | a0027c0089a0032c0075a0035c0073 | a0027c0089t0047a0032c0075t0008a0035c0073t0001 | a0027c0089t0047g0056 a0032c0075t0008g0015 a0035c0073t0001g0016 |
3 | 116 | 0.0259 | -7 | c.713 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3808582 | TGCAGTAA | T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0014a0001c0087a0002c0013others(4): Show | a0001c0014t0018a0001c0087t0009a0002c0013t0064others(4): Show | a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0087t0009g0054 others(5): Show |
8 | 116 | 0.0690 | -7 | c.714 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3847971 | ATACTATC | A | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0037a0001c0059a0001c0060others(1): Show | a0001c0037t0002a0001c0059t0027a0001c0060t0041others(1): Show | a0001c0037t0002g0077 a0001c0059t0027g0090 a0001c0060t0041g0080 others(1): Show |
4 | 116 | 0.0345 | -7 | c.847 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | chr7 | TogoVar |