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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG16_chr2_213279464_214415501 | 214177908 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 86 | 0.0116 | 48 | c.172 others(69): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214177916 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 86 | 0.0116 | 48 | c.172 others(69): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22413688 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 142 | 0.0070 | 48 | c.146 others(67): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51076997 | G | GCTAGCTA others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0002 | 1 | 292 | 0.0034 | 48 | c.424 others(65): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0218 | 1 | 356 | 0.0028 | 48 | c.*65 others(59): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172960875 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0118 | 1 | 200 | 0.0050 | 48 | c.934 others(65): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123118316 | A | ATATATTA others(41): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0015a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0015g0181 a0002c0002t0001g0160 a0002c0002t0001g0162 others(8): Show |
11 | 262 | 0.0420 | 48 | c.234 others(69): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPC25_chr2_168865891_168895430 | 168889011 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 5 | 360 | 0.0139 | 48 | c.199 others(63): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994418 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0022 | 1 | 394 | 0.0025 | 48 | c.-39 others(59): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3478 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994418 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 394 | 0.0025 | 48 | c.-39 others(59): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3478 | chr7 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35751078 | T | TACGTATA others(41): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0034 | a0034c0054 | a0034c0054t0001 | a0034c0054t0001g0185 | 1 | 268 | 0.0037 | 48 | c.333 others(67): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPESP1_chr15_68925525_68951811 | 68944823 | A | AACTCTCC others(41): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 402 | 0.0025 | 48 | c.65- others(61): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228139910 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 HG02293.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(2): Show | a0001c0001t0002g0241 a0001c0001t0002g0254 a0001c0001t0011g0084 others(5): Show |
8 | 322 | 0.0248 | 48 | c.33- others(63): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113480912 | T | TAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0006a0001c0010t0022 | a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0188 others(5): Show |
8 | 364 | 0.0220 | 48 | c.611 others(65): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56821746 | A | AGGGCGGG others(41): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG03209.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 a0002c0002t0002g0051 a0002c0002t0002g0194 others(5): Show |
8 | 428 | 0.0187 | 48 | c.-85 others(55): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 46 | chr4 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148209954 | A | ATATGTAT others(41): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 438 | 0.0023 | 48 | c.81+ others(63): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45724559 | C | CATTTGCT others(41): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 458 | 0.0022 | 48 | c.293 others(63): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45725013 | T | TATACACA others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 458 | 0.0022 | 48 | c.294 others(63): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45725013 | T | TATATACA others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 458 | 0.0022 | 48 | c.294 others(63): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45725013 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02622.hp2 HG02723.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0032 |
11 | 458 | 0.0240 | 48 | c.294 others(63): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 356 | 0.0028 | 48 | c.180 others(65): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4540924 | A | AGGCCCCG others(41): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0083 |
2 | 404 | 0.0050 | 48 | c.*34 others(59): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1890 | chr17 | TogoVar | |||||||
SPN_chr16_29658247_29675876 | 29667948 | G | GTGTGTGT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0154 | a0001c0001t0154g0002 | 1 | 394 | 0.0025 | 48 | c.*30 others(59): Show |
SPN | ENSG00000197471.12 | transcript | ENST00000652691.1 | protein_coding | 2/2 | 3073 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPRY3_chrX_155607586_155787459 | 155777635 | T | TTATATAT others(41): Show |
3_prime_UTR_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0217 | 1 | 231 | 0.0043 | 48 | c.*29 others(59): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 3/3 | 2907 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SPRY3_chrX_155607586_155787459 | 155777636 | T | TATATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG01346.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0001t0014a0001c0001t0024others(11): Show | a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0008g0204 others(17): Show |
20 | 231 | 0.0866 | 48 | c.*29 others(59): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 3/3 | 2907 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SPRY3_chrX_155607586_155787459 | 155777636 | T | TATATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0038 | 1 | 231 | 0.0043 | 48 | c.*29 others(59): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 3/3 | 2907 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SPRY3_chrX_155607586_155787459 | 155777636 | T | TTTATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0185 | 1 | 231 | 0.0043 | 48 | c.*28 others(59): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 3/3 | 2899 | chrX | TogoVar | ||||||
SPTBN5_chr15_41843146_41899053 | 41847824 | G | GGCAGTGC others(41): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02615.hp1 others(3): Show |
a0034a0060a0076others(3): Show | a0034c0031a0060c0045a0076c0056others(3): Show | a0034c0031t0004a0060c0045t0004a0076c0056t0002others(3): Show | a0034c0031t0004g0283 a0060c0045t0004g0043 a0076c0056t0002g0315 others(3): Show |
6 | 396 | 0.0152 | 48 | c.*79 others(57): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 321 | chr15 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531443 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0234 | 1 | 246 | 0.0041 | 48 | c.130 others(67): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45633395 | C | CCCCCCCC others(41): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 340 | 0.0029 | 48 | c.-17 others(59): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1633 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45696033 | T | TGGGGGGG others(41): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 340 | 0.0029 | 48 | c.*50 others(59): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 4753 | chr15 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37361834 | T | TGCCGGGG others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0194 a0001c0001t0009g0195 |
2 | 282 | 0.0071 | 48 | c.-24 others(67): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A2_chr2_31517480_31585938 | 31526104 | C | CATATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0158 | 1 | 386 | 0.0026 | 48 | c.*91 others(55): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 5/5 | 91 | chr2 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0004 | a0002c0004t0154 | a0002c0004t0154g0076 | 1 | 170 | 0.0059 | 48 | c.490 others(65): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144883404 | T | TGGGGGCA others(41): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 56 | 0.0179 | 48 | c.*87 others(59): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3883 | chr1 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535904 | G | GCCCCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0003 | 1 | 356 | 0.0028 | 48 | c.*49 others(59): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2584 | chr20 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34988582 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 396 | 0.0025 | 48 | c.-34 others(65): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 34988582 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 396 | 0.0025 | 48 | c.-34 others(65): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76062738 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0284 | 1 | 365 | 0.0027 | 48 | c.562 others(65): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105159464 | A | ACAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 |
2 | 282 | 0.0071 | 48 | c.621 others(65): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | |||||||
SRPRA_chr11_126257938_126273895 | 126272869 | C | CCCTTCAA others(41): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 396 | 0.0025 | 48 | c.-41 others(59): Show |
SRPRA | ENSG00000182934.12 | transcript | ENST00000332118.11 | protein_coding | 3975 | chr11 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0075 | 1 | 412 | 0.0024 | 48 | c.138 others(65): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 NA19004.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0002 | a0001c0001t0001g0140 a0003c0007t0002g0034 a0003c0007t0002g0077 others(1): Show |
4 | 412 | 0.0097 | 48 | c.138 others(65): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSH1_chr12_108773191_108862583 | 108835933 | A | AATTATAA others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 332 | 0.0030 | 48 | c.111 others(67): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108835990 | T | TATATTAA others(41): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 332 | 0.0030 | 48 | c.111 others(67): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108835990 | T | TATATTAA others(41): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0265 | 1 | 332 | 0.0030 | 48 | c.111 others(67): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108836014 | T | TATATTAA others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(48): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0054a0001c0002t0001others(15): Show | a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0054g0080 others(47): Show |
51 | 332 | 0.1536 | 48 | c.111 others(67): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108836014 | T | TATATTAA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(66): Show | a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0002g0037 others(182): Show |
201 | 332 | 0.6054 | 48 | c.111 others(67): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117188773 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 188 | 0.0053 | 48 | c.107 others(65): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46719682 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02280.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0001c0001t0019a0001c0001t0108others(1): Show | a0001c0001t0005g0078 a0001c0001t0005g0170 a0001c0001t0005g0223 others(3): Show |
6 | 362 | 0.0166 | 48 | c.132 others(67): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar |