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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN11A_chr3_38840764_39056944 | 38963378 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19003.hp2 NA19055.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0179 a0001c0002t0004g0050 |
2 | 306 | 0.0065 | -15 | c.-27 others(34): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166039910 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(123): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0027 others(122): Show |
126 | 132 | 0.9545 | -15 | c.241 others(32): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 16/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166123223 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0283 a0001c0001t0025g0284 |
2 | 11 | 0.1818 | -15 | c.-14 others(34): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165272791 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 356 | 0.0028 | -15 | c.-51 others(34): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118165463 | CTTTTTTT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0107 | 1 | 96 | 0.0104 | -15 | c.*14 others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 4/4 | 1409 | chr11 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118178890 | ATTATTAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02015.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0027 others(14): Show |
27 | 408 | 0.0662 | -15 | c.-24 others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2252 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178893 | ATTATTAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01257.hp1 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0193 others(1): Show |
4 | 366 | 0.0109 | -15 | c.-24 others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2255 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178896 | ATTATTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 282 | 0.0035 | -15 | c.-24 others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2258 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118179408 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018 | a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0008g0044 others(2): Show |
8 | 159 | 0.0503 | -15 | c.-29 others(26): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2770 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165142723 | GTGTTGTT others(8): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA19030.hp2 |
a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0206 a0002c0015t0001g0207 |
2 | 78 | 0.0256 | -15 | c.167 others(34): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165156512 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0202 a0001c0004t0002g0039 others(5): Show |
9 | 34 | 0.2647 | -15 | c.103 others(32): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555082 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18966.hp2 NA18980.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 a0001c0003t0004g0089 |
2 | 335 | 0.0060 | -15 | c.454 others(32): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555090 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0010 | 1 | 332 | 0.0030 | -15 | c.454 others(32): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38621896 | GTACCTCC others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(68): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0174 a0001c0001t0002g0220 a0001c0001t0002g0250 others(67): Show |
71 | 338 | 0.2101 | -15 | c.482 others(30): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38653668 | AGCAAGTG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0002a0015others(1): Show | a0001c0004a0001c0008a0001c0055others(5): Show | a0001c0004t0001a0001c0008t0002a0001c0055t0019others(6): Show | a0001c0004t0001g0118 a0001c0008t0002g0023 a0001c0055t0019g0033 others(7): Show |
10 | 338 | 0.0296 | -15 | c.-42 others(26): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 3982 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51639879 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 18 | 0.0556 | -15 | c.-54 others(34): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51677056 | GTTTTATT others(8): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0202 a0001c0002t0001g0175 |
2 | 74 | 0.0270 | -15 | c.277 others(32): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51721107 | AATATTTA others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0003t0010a0001c0010t0001 | a0001c0002t0001g0119 a0001c0002t0001g0174 a0001c0003t0010g0061 others(3): Show |
6 | 188 | 0.0319 | -15 | c.163 others(32): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | chr12 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51770880 | TCCTCTTA others(8): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 200 | 0.0050 | -15 | c.364 others(32): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51780565 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0009 | a0001c0001t0003g0037 a0001c0005t0009g0073 |
2 | 27 | 0.0741 | -15 | c.382 others(30): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166199975 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02602.hp2 NA19090.hp2 |
a0002a0007 | a0002c0015a0007c0019 | a0002c0015t0004a0007c0019t0004 | a0002c0015t0004g0173 a0007c0019t0004g0252 |
2 | 21 | 0.0952 | -15 | c.477 others(32): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166370192 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01258.hp1 HG03017.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0009others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0237 a0001c0002t0002g0227 a0001c0003t0001g0238 others(4): Show |
7 | 255 | 0.0275 | -15 | c.-51 others(32): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23305524 | AATATATA others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG02622.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(8): Show |
11 | 211 | 0.0521 | -15 | c.-9+ others(30): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23315972 | CCATCCTC others(8): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0021 a0002c0004t0001g0032 |
2 | 304 | 0.0066 | -15 | c.-9+ others(32): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365605 | GAAAGAAA others(8): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01106.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0027 others(42): Show |
45 | 280 | 0.1607 | -15 | c.777 others(32): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCO1_chr17_10667474_10702533 | 10690829 | ATACGTCA others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02451.hp2 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0021a0002c0002t0029others(11): Show | a0002c0002t0020g0031 a0002c0002t0020g0219 a0002c0002t0021g0019 others(12): Show |
24 | 414 | 0.0580 | -15 | c.655 others(32): Show |
SCO1 | ENSG00000133028.12 | transcript | ENST00000255390.10 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
SCO1_chr17_10667474_10702533 | 10691357 | GTGATCCA others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0056 | a0002c0002t0056g0228 | 1 | 414 | 0.0024 | -15 | c.655 others(30): Show |
SCO1 | ENSG00000133028.12 | transcript | ENST00000255390.10 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52934592 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 NA21309.hp2 |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0011 | a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048 |
3 | 17 | 0.1765 | -15 | c.69+ others(30): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCTR_chr2_119434843_119529483 | 119473365 | GTCCTCTC others(8): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 288 | 0.0035 | -15 | c.405 others(28): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119523392 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG03710.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0201 a0001c0002t0005g0113 |
2 | 135 | 0.0148 | -15 | c.72+ others(28): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43194029 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02818.hp2 HG02922.hp1 others(5): Show |
a0001a0004a0013 | a0001c0008a0004c0028a0013c0033 | a0001c0008t0009a0001c0008t0019a0004c0028t0009others(2): Show | a0001c0008t0009g0113 a0001c0008t0009g0197 a0001c0008t0009g0247 others(5): Show |
8 | 278 | 0.0288 | -15 | c.*99 others(26): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3250 | chr22 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227664655 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03209.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0000 a0004c0004t0001g0000 |
3 | 101 | 0.0297 | -15 | c.-21 others(26): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2148 | chr2 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227669564 | AAAAATAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01993.hp2 others(16): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0000 a0004c0004t0001g0000 |
19 | 149 | 0.1275 | -15 | c.*25 others(26): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2504 | chr2 | TogoVar | |||||||
SCYGR8_chr2_227740894_227751220 | 227745963 | TGCGGTGG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 others(2): Show |
387 | 456 | 0.8487 | -15 | c.87_ others(21): Show |
p.Gly others(11): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 1/1 | 87/327 | 87/327 | 29/108 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SCYL3_chr1_169844631_169898896 | 169850996 | TTTTTTTT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0026 a0001c0001t0015g0101 a0001c0001t0015g0154 others(1): Show |
5 | 416 | 0.0120 | -15 | c.*27 others(26): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2702 | chr1 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169853905 | AACTTAGA others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022 | a0001c0001t0021g0151 a0001c0001t0021g0187 a0001c0001t0022g0152 others(1): Show |
4 | 416 | 0.0096 | -15 | c.200 others(32): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96508296 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01346.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0140 a0001c0001t0001g0274 a0001c0001t0002g0130 others(19): Show |
22 | 83 | 0.2651 | -15 | c.60+ others(32): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCBP2_chr20_1304909_1334139 | 1314522 | GGAAAGGA others(8): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 428 | 0.0023 | -15 | c.226 others(32): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 4/8 | chr20 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243353490 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 | 1 | 15 | 0.0667 | -15 | c.147 others(34): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28666550 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 379 | 0.0026 | -15 | c.-46 others(26): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 4645 | chr17 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161354695 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 328 | 0.0030 | -15 | c.242 others(32): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3357328 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02976.hp2 others(8): Show |
a0001a0002a0005others(4): Show | a0001c0008a0001c0011a0001c0014others(8): Show | a0001c0008t0007a0001c0011t0039a0001c0014t0018others(8): Show | a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0062 others(8): Show |
11 | 35 | 0.3143 | -15 | c.298 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3518938 | ATGCAATG others(8): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0037 | a0001c0037t0002 | a0001c0037t0002g0077 | 1 | 116 | 0.0086 | -15 | c.299 others(36): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3580986 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0001 | a0003c0001t0063 | a0003c0001t0063g0033 | 1 | 115 | 0.0087 | -15 | c.299 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3582049 | CCTCAGGT others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(46): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0005others(40): Show | a0001c0002t0004a0001c0004t0001a0001c0004t0005others(46): Show | a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 others(46): Show |
49 | 116 | 0.4224 | -15 | c.299 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3582333 | GTCTCAGG others(8): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0027 | a0027c0089 | a0027c0089t0047 | a0027c0089t0047g0056 | 1 | 108 | 0.0093 | -15 | c.299 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3582349 | CCTCAGGT others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0021 | a0011c0021t0073 | a0011c0021t0073g0007 | 1 | 113 | 0.0088 | -15 | c.299 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3705425 | GATTTTAT others(8): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01175.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0007a0001c0008a0001c0010others(8): Show | a0001c0007t0021a0001c0008t0007a0001c0010t0002others(8): Show | a0001c0007t0021g0110 a0001c0008t0007g0067 a0001c0010t0002g0085 others(9): Show |
12 | 32 | 0.3750 | -15 | c.713 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3821237 | TCAGACAC others(8): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
a0001a0002a0005others(13): Show | a0001c0002a0001c0017a0001c0031others(24): Show | a0001c0002t0002a0001c0017t0011a0001c0031t0001others(24): Show | a0001c0002t0002g0096 a0001c0017t0011g0051 a0001c0017t0011g0052 others(25): Show |
28 | 116 | 0.2414 | -15 | c.714 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4012549 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0075 | a0032c0075t0008 | a0032c0075t0008g0015 | 1 | 5 | 0.2000 | -15 | c.242 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |