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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR3_chr15_33305967_33871102 | 33385710 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02040.hp2 others(6): Show |
a0001a0002a0005others(5): Show | a0001c0005a0001c0014a0002c0044others(6): Show | a0001c0005t0001a0001c0014t0002a0002c0044t0003others(6): Show | a0001c0005t0001g0117 a0001c0014t0002g0016 a0002c0044t0003g0105 others(6): Show |
9 | 57 | 0.1579 | 7 | c.51+ others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33450087 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01081.hp1 others(15): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0009others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(15): Show | a0001c0001t0001g0044 a0001c0003t0001g0006 a0001c0003t0006g0029 others(15): Show |
18 | 49 | 0.3673 | 7 | c.52- others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33453065 | T | TGCTGCAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(83): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(75): Show | a0001c0001t0001g0044 a0001c0001t0001g0140 a0001c0001t0002g0099 others(83): Show |
86 | 152 | 0.5658 | 7 | c.52- others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33598246 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01081.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0015a0001c0082a0001c0083others(15): Show | a0001c0015t0001a0001c0082t0002a0001c0083t0001others(15): Show | a0001c0015t0001g0118 a0001c0082t0002g0025 a0001c0083t0001g0143 others(15): Show |
18 | 45 | 0.4000 | 7 | c.178 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 16/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725976 | C | CGCCAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG02630.hp1 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0004a0001c0013others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0003others(11): Show | a0001c0003t0001g0006 a0001c0003t0002g0037 a0001c0004t0003g0104 others(11): Show |
14 | 24 | 0.5833 | 7 | c.691 others(24): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33789659 | T | TATATATA | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 HG02486.hp2 |
a0015a0017a0030 | a0015c0059a0017c0108a0030c0100 | a0015c0059t0001a0017c0108t0003a0030c0100t0001 | a0015c0059t0001g0063 a0017c0108t0003g0087 a0030c0100t0001g0021 |
3 | 132 | 0.0227 | 7 | c.983 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33789986 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01106.hp1 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 others(26): Show |
29 | 78 | 0.3718 | 7 | c.983 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33794224 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(73): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(73): Show |
76 | 149 | 0.5101 | 7 | c.983 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A9_chr1_153352854_153366023 | 153355742 | T | TTGGCTGC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(161): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show |
164 | 459 | 0.3573 | 7 | c.-21 others(18): Show |
S100A9 | ENSG00000163220.11 | transcript | ENST00000368738.4 | protein_coding | 2111 | chr1 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76859768 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01496.hp2 others(11): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(2): Show | a0001c0002t0001g0055 a0001c0002t0002g0020 a0001c0002t0002g0021 others(11): Show |
14 | 26 | 0.5385 | 7 | c.-17 others(26): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76888367 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp2 NA18944.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0087 a0001c0002t0001g0161 a0001c0002t0001g0184 others(5): Show |
8 | 114 | 0.0702 | 7 | c.*2+ others(24): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S1PR5_chr19_10507742_10522447 | 10512925 | A | AAAGAAAG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(92): Show |
308 | 332 | 0.9277 | 7 | c.*88 others(16): Show |
S1PR5 | ENSG00000180739.15 | transcript | ENST00000333430.6 | protein_coding | 2/2 | 889 | chr19 | TogoVar | ||||||
SAA1_chr11_18261264_18274967 | 18268831 | T | TAAAAAAA | intron_variant | MODIFIER | HG01928.hp1 HG02148.hp2 HG03195.hp1 others(9): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0005 a0002c0001t0001g0013 a0002c0001t0001g0044 |
12 | 184 | 0.0652 | 7 | c.92- others(20): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SAC3D1_chr11_65036210_65049828 | 65039029 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02132.hp1 NA18970.hp2 NA18973.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0004 |
7 | 178 | 0.0393 | 7 | c.-22 others(18): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 2180 | chr11 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45699468 | A | AAAATTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(327): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(15): Show | a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0010 others(233): Show |
330 | 352 | 0.9375 | 7 | c.33- others(22): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SACS_chr13_23323830_23438702 | 23399019 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01175.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0011a0001c0002t0022others(1): Show | a0001c0002t0003g0049 a0001c0002t0003g0060 a0001c0002t0003g0287 others(3): Show |
6 | 126 | 0.0476 | 7 | c.20+ others(24): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SAFB_chr19_5618083_5673478 | 5642651 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0151 others(12): Show |
15 | 81 | 0.1852 | 7 | c.546 others(22): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6352698 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0206 others(56): Show |
61 | 151 | 0.4040 | 7 | c.-39 others(18): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 3732 | chr7 | TogoVar | |||||||
SALL4_chr20_51777331_51807521 | 51792688 | C | CAAAAAAA | intron_variant | MODIFIER | HG01258.hp2 HG01516.hp2 HG01517.hp2 others(19): Show |
a0001a0002a0010 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0004a0001c0003t0024a0001c0005t0007others(5): Show | a0001c0003t0004g0189 a0001c0003t0004g0191 a0001c0003t0024g0081 others(10): Show |
22 | 131 | 0.1679 | 7 | c.131 others(22): Show |
SALL4 | ENSG00000101115.13 | transcript | ENST00000217086.9 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 940296 | G | GCCCCCCC | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01192.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0143 a0001c0001t0003g0021 others(16): Show |
20 | 47 | 0.4255 | 7 | c.119 others(24): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118440696 | A | ACACACAC | intron_variant | MODIFIER | HG03927.hp2 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0057 a0001c0002t0009g0154 |
2 | 184 | 0.0109 | 7 | c.193 others(22): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118500067 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01358.hp1 HG03017.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0005 | a0001c0001t0003g0106 a0001c0001t0003g0120 a0001c0002t0001g0009 others(5): Show |
8 | 43 | 0.1860 | 7 | c.193 others(26): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD13_chr1_84296708_84355798 | 84331354 | A | AAAAATAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0023 others(47): Show |
57 | 121 | 0.4711 | 7 | c.165 others(24): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130207169 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(66): Show |
72 | 335 | 0.2149 | 7 | c.383 others(24): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54724016 | G | GGAAGGAA | intron_variant | MODIFIER | HG01261.hp1 HG03704.hp2 NA18995.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0008t0020 | a0001c0001t0002g0249 a0001c0001t0004g0049 a0001c0008t0020g0052 |
3 | 259 | 0.0116 | 7 | c.716 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54739055 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00741.hp1 others(56): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(56): Show |
59 | 76 | 0.7763 | 7 | c.979 others(24): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54757425 | G | GTGTGTTT | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01243.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0026 a0001c0001t0002g0138 a0001c0001t0002g0154 others(16): Show |
19 | 225 | 0.0844 | 7 | c.117 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147546530 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02451.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0029others(14): Show | a0001c0001t0001g0038 a0001c0001t0001g0183 a0001c0001t0012g0264 others(19): Show |
22 | 64 | 0.3438 | 7 | c.460 others(26): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75148346 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0026 | a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0157 others(3): Show |
6 | 69 | 0.0870 | 7 | c.-15 others(24): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75159063 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(118): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(113): Show |
121 | 297 | 0.4074 | 7 | c.579 others(24): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SANBR_chr2_61060871_61129280 | 61072821 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01346.hp1 HG01358.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 others(9): Show |
12 | 93 | 0.1290 | 7 | c.338 others(22): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAP130_chr2_127936222_128033059 | 128018332 | C | CAAACCAA | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0001 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(5): Show |
8 | 261 | 0.0307 | 7 | c.113 others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
SAPCD2_chr9_137057127_137075557 | 137070668 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0001c0001t0037a0003c0003t0007 | a0001c0001t0018g0135 a0001c0001t0037g0142 a0003c0003t0007g0039 others(2): Show |
6 | 9 | 0.6667 | 7 | c.-20 others(16): Show |
SAPCD2 | ENSG00000186193.9 | transcript | ENST00000409687.5 | protein_coding | 112 | chr9 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70155562 | T | TAAGACAC | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043a0001c0001t0078others(1): Show | a0001c0001t0009g0029 a0001c0001t0009g0035 a0001c0001t0009g0037 others(5): Show |
12 | 418 | 0.0287 | 7 | c.349 others(24): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70158757 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01167.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0003g0072 others(36): Show |
42 | 215 | 0.1953 | 7 | c.245 others(22): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70158757 | C | CAGAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG01884.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043a0001c0001t0078others(1): Show | a0001c0001t0009g0029 a0001c0001t0009g0035 a0001c0001t0009g0037 others(5): Show |
12 | 185 | 0.0649 | 7 | c.245 others(22): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30059791 | A | AACAATAT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0002g0034 a0001c0001t0002g0079 a0001c0001t0002g0082 others(29): Show |
34 | 358 | 0.0950 | 7 | c.*40 others(18): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 3211 | chr8 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668575 | T | TCCCCTCA | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 HG03209.hp2 |
a0003a0005 | a0003c0003a0005c0019 | a0003c0003t0001a0005c0019t0001 | a0003c0003t0001g0240 a0005c0019t0001g0082 a0005c0019t0001g0083 |
3 | 250 | 0.0120 | 7 | c.249 others(26): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668913 | T | TCCCCTCA | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 HG03209.hp2 |
a0003a0005 | a0003c0003a0005c0019 | a0003c0003t0001a0005c0019t0001 | a0003c0003t0001g0240 a0005c0019t0001g0082 a0005c0019t0001g0083 |
3 | 254 | 0.0118 | 7 | c.249 others(26): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55774558 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG01934.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0082 others(1): Show |
4 | 167 | 0.0240 | 7 | c.502 others(26): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55787241 | T | TAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(117): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(116): Show |
120 | 261 | 0.4598 | 7 | c.501 others(24): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55799559 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0057 others(13): Show |
16 | 21 | 0.7619 | 7 | c.251 others(23): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148356494 | C | CTTTTTTT | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp2 HG01891.hp2 others(7): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0023others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0004g0018 a0001c0001t0005g0269 a0001c0001t0011g0321 others(7): Show |
10 | 87 | 0.1149 | 7 | c.156 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148381617 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0002others(11): Show | a0001c0001t0002g0001 a0001c0001t0007g0061 a0001c0003t0002g0241 others(13): Show |
16 | 92 | 0.1739 | 7 | c.157 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148429385 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG03710.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0050 a0001c0001t0002g0192 a0001c0003t0002g0092 others(4): Show |
7 | 69 | 0.1014 | 7 | c.286 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148555896 | T | TAAATAAG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(87): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0108 others(87): Show |
90 | 132 | 0.6818 | 7 | c.*73 others(18): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 3853 | chr6 | TogoVar | |||||||
SASH3_chrX_129774949_129800201 | 129792858 | G | GTCACTAT | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0016g0047 |
8 | 305 | 0.0262 | 7 | c.801 others(20): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23781874 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02280.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
9 | 34 | 0.2647 | 7 | c.-14 others(18): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18362881 | A | AAAAAAAC | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG02074.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0041a0001c0001t0084others(6): Show | a0001c0001t0007g0095 a0001c0001t0041g0099 a0001c0001t0084g0141 others(6): Show |
9 | 171 | 0.0526 | 7 | c.157 others(28): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199409219 | G | GAGTACAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0089 others(89): Show |
92 | 252 | 0.3651 | 7 | c.346 others(26): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar |