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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX6_chr11_15961449_16361546 | 16010125 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0003 | a0001c0001t0003g0123 a0001c0001t0006g0179 a0001c0002t0003g0056 others(2): Show |
5 | 218 | 0.0229 | -8 | c.173 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 13/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16044966 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0004 a0001c0001t0018g0130 |
2 | 218 | 0.0092 | -8 | c.162 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 12/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16047701 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01106.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 others(52): Show |
55 | 218 | 0.2523 | -8 | c.143 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 11/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0073 a0001c0001t0003g0002 a0001c0001t0004g0111 others(13): Show |
16 | 218 | 0.0734 | -8 | c.110 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16079020 | ATTCTGAG others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 a0001c0001t0003g0036 |
2 | 218 | 0.0092 | -8 | c.110 others(29): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16125816 | TAGGAAGG others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01433.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0002g0122 others(16): Show |
19 | 218 | 0.0872 | -8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132266 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0178 others(14): Show |
17 | 218 | 0.0780 | -8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132330 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01175.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0004g0202 a0001c0001t0007g0180 a0001c0001t0009g0047 others(10): Show |
13 | 218 | 0.0596 | -8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16134384 | AGGAAAGC others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0034 others(1): Show |
4 | 218 | 0.0184 | -8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16287257 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0044 | a0001c0001t0003g0002 a0001c0001t0044g0218 |
2 | 218 | 0.0092 | -8 | c.445 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349674 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0003g0028 a0001c0001t0012g0027 a0001c0001t0014g0029 others(3): Show |
6 | 218 | 0.0275 | -8 | c.-5+ others(23): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16352250 | TGATGGAT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02293.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0003g0026 others(9): Show |
12 | 218 | 0.0551 | -8 | c.-5+ others(23): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX7_chr8_10718768_10735511 | 10735243 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(96): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0015 others(28): Show |
99 | 462 | 0.2143 | -8 | c.-48 others(19): Show |
SOX7 | ENSG00000171056.8 | transcript | ENST00000304501.2 | protein_coding | 4733 | chr8 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981299 | TGTGTGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG01981.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0042a0001c0001t0051a0001c0002t0011others(7): Show | a0001c0001t0042g0042 a0001c0001t0051g0002 a0001c0002t0011g0002 others(9): Show |
25 | 434 | 0.0576 | -8 | c.-62 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 470 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981343 | AGAGAGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0006g0006 a0001c0002t0003g0005 others(2): Show |
7 | 434 | 0.0161 | -8 | c.-57 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 426 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981347 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01884.hp2 others(12): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0033a0001c0001t0051a0001c0002t0007others(7): Show | a0001c0001t0033g0006 a0001c0001t0051g0002 a0001c0002t0007g0008 others(7): Show |
15 | 434 | 0.0346 | -8 | c.-57 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 422 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230436961 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0017others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(22): Show |
25 | 290 | 0.0862 | -8 | c.108 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230468566 | AGGCTGAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(41): Show |
a0003a0004 | a0003c0004a0004c0006a0004c0015 | a0003c0004t0002a0003c0004t0003a0003c0004t0004others(2): Show | a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0002g0133 others(41): Show |
44 | 290 | 0.1517 | -8 | c.129 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230506782 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01261.hp2 others(35): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0003c0004others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0003g0055 a0001c0001t0004g0048 a0001c0001t0004g0049 others(35): Show |
38 | 290 | 0.1310 | -8 | c.201 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230522509 | CTTGCACT others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0021a0001c0003t0017a0001c0007t0017others(1): Show | a0001c0001t0021g0287 a0001c0003t0017g0137 a0001c0007t0017g0030 others(6): Show |
9 | 290 | 0.0310 | -8 | c.209 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230524364 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 others(3): Show |
6 | 290 | 0.0207 | -8 | c.209 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230206595 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
a0001a0004a0012others(2): Show | a0001c0001a0004c0004a0012c0018others(3): Show | a0001c0001t0002a0004c0004t0010a0004c0004t0072others(4): Show | a0001c0001t0002g0054 a0004c0004t0010g0265 a0004c0004t0072g0266 others(4): Show |
7 | 428 | 0.0164 | -8 | c.898 others(25): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354848 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG00741.hp1 others(39): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(10): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0004others(11): Show | a0001c0001t0001g0067 a0001c0001t0001g0188 a0001c0001t0001g0193 others(37): Show |
42 | 336 | 0.1250 | -8 | c.108 others(25): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230381711 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(74): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0018others(6): Show | a0001c0001t0001a0001c0004t0004a0001c0018t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0068 others(66): Show |
77 | 336 | 0.2292 | -8 | c.638 others(25): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230288455 | ATCTTTCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01070.hp1 others(23): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0003c0005others(4): Show | a0001c0001t0001a0003c0004t0003a0003c0005t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0046 others(20): Show |
26 | 370 | 0.0703 | -8 | c.172 others(25): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307984 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02683.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0002g0243 a0001c0001t0002g0256 others(2): Show |
5 | 370 | 0.0135 | -8 | c.205 others(27): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307986 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01258.hp2 others(7): Show |
a0001a0004a0006 | a0001c0001a0004c0003a0006c0009 | a0001c0001t0001a0004c0003t0001a0006c0009t0004 | a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0001g0178 others(6): Show |
10 | 370 | 0.0270 | -8 | c.205 others(27): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53412930 | CTGTGTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp1 others(97): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0030others(24): Show | a0001c0001t0005g0015 a0001c0001t0005g0187 a0001c0001t0005g0273 others(94): Show |
100 | 326 | 0.3068 | -8 | c.*17 others(19): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 6/6 | 1720 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SP2_chr17_47891236_47933957 | 47925905 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0166 a0001c0001t0001g0181 others(2): Show |
6 | 366 | 0.0164 | -8 | c.174 others(25): Show |
SP2 | ENSG00000167182.16 | transcript | ENST00000376741.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173933638 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp1 NA18522.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0026a0001c0001t0055others(2): Show | a0001c0001t0001g0302 a0001c0001t0026g0338 a0001c0001t0026g0339 others(5): Show |
8 | 356 | 0.0225 | -8 | c.164 others(29): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21445988 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(47): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0240 others(44): Show |
50 | 426 | 0.1174 | -8 | c.167 others(29): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21517465 | CCCCTTGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG02055.hp2 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0010a0001c0001t0018a0001c0001t0028others(4): Show | a0001c0001t0010g0255 a0001c0001t0010g0268 a0001c0001t0010g0269 others(13): Show |
16 | 426 | 0.0376 | -8 | c.*61 others(19): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 2644 | chr7 | TogoVar | |||||||
SP5_chr2_170710337_170723078 | 170721373 | ATGACCTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0002a0003a0005 | a0002c0001a0002c0015a0003c0006others(1): Show | a0002c0001t0001a0002c0001t0003a0002c0015t0001others(2): Show | a0002c0001t0001g0001 a0002c0001t0003g0001 a0002c0015t0001g0001 others(2): Show |
146 | 452 | 0.3230 | -8 | c.*39 others(19): Show |
SP5 | ENSG00000204335.4 | transcript | ENST00000375281.4 | protein_coding | 3296 | chr2 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0011g0014 |
10 | 416 | 0.0240 | -8 | c.-40 others(19): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790876 | AAAAAAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG02074.hp2 HG03710.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0001 a0001c0001t0015g0019 |
8 | 416 | 0.0192 | -8 | c.-40 others(19): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3991 | chr7 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602704 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01934.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 392 | 0.0255 | -8 | c.-42 others(19): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48133072 | CACTTTGG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 312 | 0.0032 | -8 | c.*54 others(17): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 453 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135285 | GCTTGCTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 312 | 0.0032 | -8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2666 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48013035 | CCTTTCTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 292 | 0.0034 | -8 | c.*33 others(19): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 3303 | chrX | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383107 | AAAGAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp1 HG01257.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 others(38): Show |
43 | 391 | 0.1100 | -8 | c.94+ others(23): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112430168 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 others(3): Show |
6 | 391 | 0.0154 | -8 | c.446 others(25): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACDR_chr7_100451620_100469260 | 100458195 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0258 others(2): Show |
6 | 350 | 0.0171 | -8 | c.388 others(25): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01346.hp1 HG01978.hp1 others(4): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0048 others(4): Show |
7 | 131 | 0.0534 | -8 | c.*23 others(19): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213310319 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01256.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 others(14): Show |
17 | 86 | 0.1977 | -8 | c.398 others(23): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213407596 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01256.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 others(25): Show |
28 | 86 | 0.3256 | -8 | c.942 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213417205 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 NA19030.hp1 others(3): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0001 | a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 others(3): Show |
6 | 86 | 0.0698 | -8 | c.942 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213426836 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 HG02922.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 others(4): Show |
7 | 86 | 0.0814 | -8 | c.942 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213468496 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01256.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(18): Show |
21 | 86 | 0.2442 | -8 | c.943 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213478670 | CACATTAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0027 a0002c0002t0001g0077 |
2 | 86 | 0.0233 | -8 | c.943 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213538815 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 |
2 | 86 | 0.0233 | -8 | c.107 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |