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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S1PR2_chr19_10216433_10236331 | 10223168 | CAAAAAAA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02129.hp2 NA18939.hp1 NA18948.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0042 | a0001c0002t0012g0027 a0001c0002t0012g0114 a0001c0002t0012g0118 others(2): Show |
7 | 400 | 0.0175 | -8 | c.*66 others(17): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2/2 | 668 | chr19 | TogoVar | ||||||
S1PR2_chr19_10216433_10236331 | 10232354 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01346.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0009 | a0001c0002t0005g0004 a0001c0002t0005g0035 a0001c0002t0005g0142 others(3): Show |
6 | 400 | 0.0150 | -8 | c.-12 others(19): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 1024 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3180465 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01516.hp2 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0000 a0001c0006t0001g0000 |
11 | 418 | 0.0263 | -8 | c.*51 others(17): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 134 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3180495 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 29 | 418 | 0.0694 | -8 | c.*54 others(17): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 164 | chr19 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251910 | CTTTATTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp1 HG03209.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0002c0002t0001g0004 others(1): Show |
5 | 474 | 0.0106 | -8 | c.-33 others(19): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3243 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251939 | TTTATTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02895.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014 a0002c0002t0001g0004 |
3 | 474 | 0.0063 | -8 | c.-33 others(19): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3272 | chr11 | TogoVar | |||||||
SAAL1_chr11_18075292_18111082 | 18099721 | GACATTGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0016others(8): Show | a0001c0001t0001a0001c0007t0001a0001c0016t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(60): Show |
133 | 284 | 0.4683 | -8 | c.250 others(25): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45748591 | AATATATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG03209.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0009 | a0002c0001t0001g0027 a0002c0001t0009g0101 a0002c0001t0009g0102 |
4 | 354 | 0.0113 | -8 | c.*49 others(19): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 3183 | chr3 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47137703 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01192.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0006 | a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 others(5): Show |
8 | 380 | 0.0211 | -8 | c.99- others(23): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47141380 | GATCCACC others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 NA19030.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0265 a0001c0001t0002g0266 |
3 | 380 | 0.0079 | -8 | c.99- others(23): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47182464 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0032 others(1): Show |
4 | 380 | 0.0105 | -8 | c.733 others(27): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47201360 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02738.hp1 HG02896.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0232 others(5): Show |
8 | 380 | 0.0211 | -8 | c.879 others(25): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6329762 | CTGCTAGG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0212 a0001c0001t0009g0300 a0001c0001t0009g0310 others(8): Show |
11 | 420 | 0.0262 | -8 | c.*14 others(19): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2/2 | 1445 | chr7 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6343397 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01070.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0347 a0001c0001t0002g0290 a0001c0001t0002g0319 others(20): Show |
23 | 420 | 0.0548 | -8 | c.186 others(25): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAG_chr2_233302816_233352055 | 233321986 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01891.hp2 HG02055.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0003a0001c0006t0001others(5): Show | a0001c0001t0001g0256 a0001c0001t0001g0356 a0001c0003t0003g0082 others(8): Show |
11 | 368 | 0.0299 | -8 | c.376 others(23): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233330471 | CCCTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(78): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 others(74): Show |
81 | 368 | 0.2201 | -8 | c.733 others(23): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233330475 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0112 a0001c0001t0001g0124 others(26): Show |
29 | 368 | 0.0788 | -8 | c.733 others(23): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SALL1_chr16_51130982_51156270 | 51145217 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0178 a0001c0006t0001g0051 |
3 | 374 | 0.0080 | -8 | c.77- others(23): Show |
SALL1 | ENSG00000103449.13 | transcript | ENST00000251020.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118431687 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0004a0001c0003t0002a0002c0004t0002 | a0001c0001t0004g0054 a0001c0003t0002g0186 a0002c0004t0002g0047 |
3 | 188 | 0.0160 | -8 | c.322 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118440657 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0035 others(37): Show |
40 | 188 | 0.2128 | -8 | c.193 others(23): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118447704 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0037 a0001c0001t0006g0053 a0001c0001t0007g0085 others(3): Show |
6 | 188 | 0.0319 | -8 | c.193 others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118455268 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0003t0002a0002c0004t0002 | a0001c0001t0002g0027 a0001c0001t0002g0123 a0001c0003t0002g0039 others(1): Show |
4 | 188 | 0.0213 | -8 | c.193 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118458950 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 others(88): Show |
91 | 188 | 0.4840 | -8 | c.193 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118515000 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0025 others(76): Show |
79 | 188 | 0.4202 | -8 | c.192 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118522171 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0016a0001c0003t0002 | a0001c0001t0003g0064 a0001c0001t0016g0155 a0001c0003t0002g0074 |
3 | 188 | 0.0160 | -8 | c.192 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118536437 | TACACAAA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG03704.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0177 a0001c0002t0001g0109 |
2 | 188 | 0.0106 | -8 | c.192 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118548384 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0183 others(4): Show |
7 | 188 | 0.0372 | -8 | c.192 others(27): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118584922 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 a0001c0001t0004g0137 |
2 | 188 | 0.0106 | -8 | c.14- others(23): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118605765 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02258.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0004g0083 others(1): Show |
4 | 188 | 0.0213 | -8 | c.13+ others(25): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
SAMD13_chr1_84296708_84355798 | 84302541 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0201 others(5): Show |
8 | 316 | 0.0253 | -8 | c.-32 others(23): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD14_chr17_50105040_50135160 | 50124771 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(10): Show | a0001c0001t0004g0001 a0001c0001t0004g0013 a0001c0001t0004g0026 others(22): Show |
43 | 398 | 0.1080 | -8 | c.43+ others(21): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372906 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp2 NA18946.hp1 NA18969.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0120 a0002c0002t0004g0018 a0002c0002t0004g0113 |
3 | 314 | 0.0096 | -8 | c.-45 others(19): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4472 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372952 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0003 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0027 others(2): Show |
6 | 314 | 0.0191 | -8 | c.-44 others(19): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4426 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77383977 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | NA18946.hp1 NA18953.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0018 a0002c0002t0004g0112 a0002c0002t0004g0113 |
6 | 314 | 0.0191 | -8 | c.178 others(27): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77388382 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01255.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0003 | a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0078 others(1): Show |
5 | 314 | 0.0159 | -8 | c.178 others(27): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130150099 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0243 others(3): Show |
6 | 338 | 0.0178 | -8 | c.102 others(27): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130152676 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01069.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0106 others(5): Show |
11 | 338 | 0.0325 | -8 | c.102 others(27): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154695 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(48): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0037 others(45): Show |
51 | 338 | 0.1509 | -8 | c.102 others(25): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154712 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG02451.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0013 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0252 others(9): Show |
12 | 338 | 0.0355 | -8 | c.102 others(25): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130157072 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(120): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 others(119): Show |
123 | 338 | 0.3639 | -8 | c.823 others(25): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 8/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54568690 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00733.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0052 others(43): Show |
46 | 262 | 0.1756 | -8 | c.196 others(23): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54602323 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01517.hp2 HG01928.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0098 others(26): Show |
29 | 262 | 0.1107 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626015 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0051 | a0001c0001t0001g0091 a0001c0001t0003g0150 a0001c0001t0051g0261 |
3 | 262 | 0.0115 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54630908 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01981.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0022others(4): Show | a0001c0001t0007g0086 a0001c0001t0012g0181 a0001c0001t0022g0001 others(4): Show |
7 | 262 | 0.0267 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54634715 | ATCTATCT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01884.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0092 others(10): Show |
13 | 262 | 0.0496 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54634719 | ATCTGTCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0047 others(86): Show |
89 | 262 | 0.3397 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54634755 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01981.hp1 HG02165.hp2 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0002g0138 others(7): Show |
10 | 262 | 0.0382 | -8 | c.196 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54664810 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0185 a0001c0001t0004g0079 a0001c0001t0008g0005 others(2): Show |
5 | 262 | 0.0191 | -8 | c.197 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp2 HG01433.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0093 a0001c0001t0002g0209 others(8): Show |
11 | 262 | 0.0420 | -8 | c.197 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54706289 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0098 a0001c0001t0001g0101 others(8): Show |
11 | 262 | 0.0420 | -8 | c.715 others(25): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |