regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMU1_chr9_33036765_33081674 | 33039536 | C | CATATATA others(33): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01074.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0020others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0055a0001c0001t0002g0102others(5): Show | 9 | 418 | 0.0215 | 40 | c.*77 others(51): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2228 | chr9 | TogoVar | ||||||
SMURF1_chr7_99022440_99149108 | 99063257 | A | ATATAAGA others(33): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 264 | 0.0038 | 40 | c.56- others(55): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
SMURF1_chr7_99022440_99149108 | 99063259 | A | ATAAGATT others(33): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0191a0001c0001t0005g0067 | 2 | 264 | 0.0076 | 40 | c.56- others(55): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214299482 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 380 | 0.0026 | 40 | c.174 others(57): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246348060 | T | TTTTATAT others(33): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 150 | 0.0067 | 40 | c.228 others(57): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246348077 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03195.hp1 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0001 | a0001c0001t0002g0030a0003c0010t0001g0031 | 2 | 150 | 0.0133 | 40 | c.228 others(57): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246481607 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 150 | 0.0067 | 40 | c.164 others(59): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83628222 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 366 | 0.0027 | 40 | c.766 others(57): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 8/29 | chr6 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89802592 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02055.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0042a0001c0001t0002g0065a0001c0001t0002g0073others(7): Show | 10 | 338 | 0.0296 | 40 | c.306 others(59): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG02280.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0057 | a0001c0001t0010g0030a0001c0001t0010g0173a0001c0001t0010g0183others(7): Show | 13 | 394 | 0.0330 | 40 | c.*25 others(51): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | |||||
SNIP1_chr1_37529449_37559293 | 37535239 | T | TATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0056 | a0001c0001t0051g0149a0001c0001t0056g0143 | 2 | 394 | 0.0051 | 40 | c.*25 others(51): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2508 | chr1 | TogoVar | |||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 442 | 0.0023 | 40 | c.309 others(57): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 106 | 0.0094 | 40 | c.-10 others(61): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50597380 | C | CACGTATA others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01978.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0039 | a0001c0002t0006g0064a0001c0002t0039g0075 | 2 | 106 | 0.0189 | 40 | c.849 others(57): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0009 | 1 | 190 | 0.0053 | 40 | c.73- others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1051157 | T | TCCCCCTT others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02071.hp1 HG02132.hp2 others(26): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(9): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0123others(26): Show | 29 | 190 | 0.1526 | 40 | c.73- others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1099589 | C | CAGTGAGG others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(28): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(124): Show | 127 | 190 | 0.6684 | 40 | c.325 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1099590 | A | AGTGAGGG others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
a0002a0003a0005 | a0002c0005a0003c0007a0005c0006 | a0002c0005t0001a0003c0007t0001a0003c0007t0002others(1): Show | a0002c0005t0001g0101a0003c0007t0001g0008a0003c0007t0001g0104others(2): Show | 5 | 190 | 0.0263 | 40 | c.325 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222073 | G | GTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0042 | 1 | 190 | 0.0053 | 40 | c.719 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222139 | C | CTCTCTGT others(33): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0121 | 1 | 190 | 0.0053 | 40 | c.719 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1255875 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0027a0001c0002t0001g0087others(1): Show | 4 | 190 | 0.0211 | 40 | c.100 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1369634 | A | ATGATGGC others(33): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0033others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0001g0136a0001c0002t0001g0069a0001c0002t0002g0002others(20): Show | 23 | 190 | 0.1211 | 40 | c.*21 others(51): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2022 | chr2 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26325304 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 390 | 0.0026 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26325306 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076a0001c0001t0001g0087a0001c0001t0001g0283others(6): Show | 9 | 390 | 0.0231 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26325319 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0165 | 1 | 390 | 0.0026 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX14_chr6_85500496_85598858 | 85539935 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 360 | 0.0028 | 40 | c.144 others(59): Show |
SNX14 | ENSG00000135317.14 | transcript | ENST00000314673.8 | protein_coding | 15/28 | chr6 | TogoVar | ||||||
SNX24_chr5_122840613_123014205 | 122913546 | A | AGGGCGGC others(33): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 330 | 0.0030 | 40 | c.61- others(57): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0232 | 1 | 366 | 0.0027 | 40 | c.115 others(59): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12512369 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0128 | 1 | 176 | 0.0057 | 40 | c.217 others(61): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCAC others(33): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0187 | 1 | 372 | 0.0027 | 40 | c.644 others(57): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCGC others(33): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19082.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0024 | a0001c0002t0009g0155a0001c0002t0024g0149 | 2 | 372 | 0.0054 | 40 | c.644 others(57): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0008 | 1 | 338 | 0.0030 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATGTGT others(33): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0319 | 1 | 338 | 0.0030 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02148.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0042 | a0002c0003t0004g0019a0002c0003t0042g0015 | 2 | 338 | 0.0059 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SNX8_chr7_2246770_2319441 | 2302895 | C | CCTCCGCC others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 370 | 0.0027 | 40 | c.94+ others(57): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019a0002c0002t0002g0020 | 2 | 302 | 0.0066 | 40 | c.12+ others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014a0002c0002t0002g0021 | 2 | 302 | 0.0066 | 40 | c.12+ others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 302 | 0.0033 | 40 | c.949 others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 302 | 0.0033 | 40 | c.949 others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SOCS6_chr18_70284045_70335199 | 70317554 | T | TACATATA others(33): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 358 | 0.0028 | 40 | c.-12 others(59): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SOCS7_chr17_38346844_38410593 | 38387133 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0017 | 1 | 289 | 0.0035 | 40 | c.168 others(59): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 130 | 0.0077 | 40 | c.627 others(59): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 107065415 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0007 | a0001c0001t0004g0015a0001c0004t0007g0046 | 2 | 130 | 0.0154 | 40 | c.558 others(59): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0111 | 1 | 168 | 0.0060 | 40 | c.481 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 168 | 0.0060 | 40 | c.481 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7540161 | T | TCTCCCTG others(33): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0038 | a0001c0038t0038 | a0001c0038t0038g0128 | 1 | 168 | 0.0060 | 40 | c.648 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7543899 | T | TCCATCCA others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0004a0001c0010t0073 | a0001c0002t0004g0028a0001c0010t0073g0167 | 2 | 168 | 0.0119 | 40 | c.648 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7658241 | G | GAGAGAAT others(33): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0118 | 1 | 168 | 0.0060 | 40 | c.888 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 104818360 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 134 | 0.0075 | 40 | c.628 others(59): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SOX18_chr20_64042582_64054639 | 64042812 | G | GGGGTCGT others(33): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 40 | c.*53 others(51): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4769 | chr20 | TogoVar |