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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPG11_chr15_44557696_44668662 | 44567184 | TATTAAAA | T | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02630.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 others(4): Show |
7 | 188 | 0.0372 | -7 | c.675 others(24): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 36/39 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64968672 | TTAAAATG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0021 others(37): Show |
69 | 350 | 0.1971 | -7 | c.669 others(22): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 7/8 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228104385 | TTATATAA | T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02895.hp1 others(9): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0008 | a0001c0001t0002a0003c0005t0006a0008c0008t0008 | a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0207 others(9): Show |
12 | 320 | 0.0375 | -7 | c.246 others(24): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228154532 | ATTTTTTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02922.hp2 others(5): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0003c0006others(1): Show | a0001c0001t0002a0003c0005t0001a0003c0006t0001others(1): Show | a0001c0001t0002g0319 a0003c0005t0001g0075 a0003c0005t0001g0076 others(5): Show |
8 | 245 | 0.0327 | -7 | c.33- others(24): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113508863 | CAACTGAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
a0001a0007 | a0001c0004a0007c0011 | a0001c0004t0004a0007c0011t0004 | a0001c0004t0004g0111 a0001c0004t0004g0112 a0001c0004t0004g0113 others(5): Show |
8 | 362 | 0.0221 | -7 | c.1-2 others(20): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479300 | GAAAGAAA | G | intron_variant | MODIFIER | HG02257.hp2 HG03130.hp1 HG03453.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0055 others(5): Show |
9 | 379 | 0.0237 | -7 | c.98- others(20): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47331980 | TTTTTTTC | T | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG02922.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(6): Show |
9 | 214 | 0.0421 | -7 | c.525 others(26): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 others(8): Show |
11 | 29 | 0.3793 | -7 | c.526 others(26): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47545112 | TTTCTTTC | T | intron_variant | MODIFIER | HG01106.hp2 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0129 a0001c0001t0002g0140 a0002c0002t0001g0061 others(3): Show |
6 | 214 | 0.0280 | -7 | c.109 others(28): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47658029 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02886.hp1 others(10): Show |
a0002a0006 | a0002c0002a0006c0005 | a0002c0002t0001a0002c0002t0002a0006c0005t0001 | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(10): Show |
13 | 97 | 0.1340 | -7 | c.154 others(28): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPINK2_chr4_56804861_56826701 | 56805163 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00733.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 others(30): Show |
47 | 65 | 0.7231 | -7 | c.*49 others(18): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 4697 | chr4 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148059640 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00738.hp1 others(42): Show |
a0004a0006a0013others(4): Show | a0004c0004a0006c0006a0013c0016others(4): Show | a0004c0004t0002a0006c0006t0002a0013c0016t0002others(4): Show | a0004c0004t0002g0006 a0004c0004t0002g0011 a0004c0004t0002g0042 others(38): Show |
45 | 139 | 0.3237 | -7 | c.-44 others(18): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4339 | chr5 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148212614 | TTATATTA | T | intron_variant | MODIFIER | NA18906.hp1 NA18978.hp1 NA18979.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0091 a0001c0001t0001g0130 others(1): Show |
5 | 436 | 0.0115 | -7 | c.82- others(22): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02717.hp2 HG02896.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show |
13 | 216 | 0.0602 | -7 | c.-52 others(18): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38283833 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0142 others(53): Show |
60 | 188 | 0.3191 | -7 | c.277 others(20): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12501072 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0006g0022 a0001c0001t0006g0026 a0001c0001t0006g0027 others(14): Show |
17 | 132 | 0.1288 | -7 | c.973 others(24): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 6/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12636464 | TAAAATAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0043 others(20): Show |
23 | 326 | 0.0706 | -7 | c.338 others(24): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4433753 | GCCCTTGT | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0002 | a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0009t0002g0022 others(3): Show |
6 | 360 | 0.0167 | -7 | c.-21 others(16): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 186 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4458519 | CCCACCCG | C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01192.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(11): Show | a0001c0001t0001g0030 a0001c0001t0002g0143 a0001c0010t0001g0084 others(29): Show |
32 | 360 | 0.0889 | -7 | c.111 others(26): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4472774 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(75): Show |
78 | 89 | 0.8764 | -7 | c.111 others(26): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4487167 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01358.hp2 HG01433.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0162 a0001c0003t0002g0136 a0001c0003t0002g0137 others(3): Show |
6 | 210 | 0.0286 | -7 | c.145 others(24): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137160550 | ATATATAT | A | intron_variant | MODIFIER | HG03139.hp2 HG03486.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0004g0021 a0001c0001t0010g0015 a0001c0002t0001g0044 others(1): Show |
4 | 134 | 0.0299 | -7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160600 | TATATATA | T | intron_variant | MODIFIER | HG01515.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0097 a0001c0001t0004g0092 |
2 | 120 | 0.0167 | -7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137293089 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0074 others(13): Show |
16 | 23 | 0.6957 | -7 | c.187 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137347716 | CAAAACAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0050 a0001c0002t0005g0111 |
2 | 152 | 0.0132 | -7 | c.187 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK2_chr10_72054034_72093551 | 72061318 | GACTTCTC | G | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0016a0002c0003t0018a0002c0003t0021others(2): Show | a0001c0001t0016g0139 a0001c0001t0016g0140 a0001c0001t0016g0141 others(6): Show |
9 | 370 | 0.0243 | -7 | c.*14 others(18): Show |
SPOCK2 | ENSG00000107742.14 | transcript | ENST00000373109.7 | protein_coding | 11/11 | 1435 | chr10 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166815302 | TAATTACA | T | intron_variant | MODIFIER | HG01257.hp1 HG01346.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0094 a0001c0001t0003g0012 others(12): Show |
15 | 142 | 0.1056 | -7 | c.590 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167131927 | TTTGTAAG | T | intron_variant | MODIFIER | HG02970.hp2 HG03471.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0009 a0001c0001t0002g0141 a0001c0004t0003g0003 others(1): Show |
4 | 142 | 0.0282 | -7 | c.190 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167223103 | GAATATAT | G | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0003g0021 others(2): Show |
5 | 142 | 0.0352 | -7 | c.189 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167224783 | CCGAGTAG | C | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 NA20805.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0014a0003c0006t0001 | a0001c0001t0001g0066 a0001c0001t0014g0062 a0003c0006t0001g0073 |
3 | 142 | 0.0211 | -7 | c.189 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 13969215 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0016g0041 others(6): Show |
9 | 66 | 0.1364 | -7 | c.238 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14011386 | CTGTGTCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01081.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0156 others(21): Show |
24 | 222 | 0.1081 | -7 | c.345 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14090823 | GGCCCCCC | G | intron_variant | MODIFIER | HG00408.hp2 HG02056.hp2 HG02071.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0002g0128 others(16): Show |
19 | 127 | 0.1496 | -7 | c.676 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14160732 | TATATTTA | T | intron_variant | MODIFIER | HG01978.hp1 HG02630.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0141 a0001c0001t0002g0147 a0001c0001t0007g0210 others(5): Show |
8 | 222 | 0.0360 | -7 | c.825 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14216611 | TGGCAGAA | T | intron_variant | MODIFIER | HG02886.hp2 HG03195.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0004g0200 a0001c0002t0001g0045 others(2): Show |
5 | 222 | 0.0225 | -7 | c.826 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14235678 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0124 others(37): Show |
40 | 75 | 0.5333 | -7 | c.826 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1162994 | TTTTTTTG | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02886.hp2 HG03491.hp2 others(5): Show |
a0002a0003a0004others(1): Show | a0002c0007a0003c0004a0004c0016others(1): Show | a0002c0007t0003a0003c0004t0001a0004c0016t0003others(1): Show | a0002c0007t0003g0021 a0003c0004t0001g0004 a0003c0004t0001g0024 others(2): Show |
8 | 423 | 0.0189 | -7 | c.*44 others(18): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 3937 | chr4 | TogoVar | |||||||
SPOP_chr17_49593884_49683097 | 49679066 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01175.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0025 a0001c0001t0004g0033 a0001c0001t0006g0016 others(26): Show |
29 | 251 | 0.1155 | -7 | c.-12 others(18): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 970 | chr17 | TogoVar | |||||||
SPP2_chr2_234045702_234082134 | 234067777 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(112): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 others(40): Show |
115 | 168 | 0.6845 | -7 | c.550 others(22): Show |
SPP2 | ENSG00000072080.11 | transcript | ENST00000168148.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPPL2C_chr17_45839881_45852067 | 45843169 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01169.hp2 others(12): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002a0002c0004t0003 | a0002c0004t0001g0000 a0002c0004t0002g0000 a0002c0004t0003g0000 |
15 | 265 | 0.0566 | -7 | c.-17 others(18): Show |
SPPL2C | ENSG00000185294.7 | transcript | ENST00000329196.7 | protein_coding | 1711 | chr17 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120795650 | TCTTTTAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0017others(7): Show | a0001c0001t0004g0172 a0001c0001t0004g0183 a0001c0001t0004g0188 others(48): Show |
51 | 318 | 0.1604 | -7 | c.102 others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120826132 | AAAAATAC | A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0023 | a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0008 others(8): Show |
11 | 318 | 0.0346 | -7 | c.24- others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120827343 | TAATAATA | T | intron_variant | MODIFIER | HG01943.hp1 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0012g0131 |
3 | 318 | 0.0094 | -7 | c.24- others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852654 | ACATATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 others(90): Show |
94 | 318 | 0.2956 | -7 | c.24- others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120852693 | ACATATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 others(90): Show |
94 | 318 | 0.2956 | -7 | c.24- others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38331164 | TCATTGTG | T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00642.hp2 others(85): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0022a0001c0001t0024others(9): Show | a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0219 others(84): Show |
88 | 376 | 0.2340 | -7 | c.423 others(24): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED2_chr2_65305851_65437599 | 65322287 | TATATATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0003g0241 a0001c0001t0003g0273 a0001c0002t0001g0093 others(4): Show |
7 | 269 | 0.0260 | -7 | c.439 others(24): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65427251 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 others(9): Show |
13 | 274 | 0.0474 | -7 | c.26+ others(22): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133429066 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0088 a0001c0001t0001g0098 others(27): Show |
107 | 109 | 0.9817 | -7 | c.-46 others(18): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4442 | chr10 | TogoVar | |||||||
SPRR2A_chr1_153051120_153062512 | 153054677 | GCACCTAC | G | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 440 | 0.0091 | -7 | c.*18 others(18): Show |
SPRR2A | ENSG00000241794.2 | transcript | ENST00000392653.3 | protein_coding | 1442 | chr1 | TogoVar |