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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1201): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 420 | 0.0024 | 1208 | c.107 others(1225): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1201): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 420 | 0.0024 | 1208 | c.107 others(1225): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(1201): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 190 | 0.0053 | 1208 | c.72+ others(1225): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005528 | A | ATCACCAC others(1201): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02895.hp1 others(1): Show |
a0002a0010 | a0002c0002a0010c0011 | a0002c0002t0004a0010c0011t0002 | a0002c0002t0004g0022a0010c0011t0002g0022 | 4 | 436 | 0.0092 | 1208 | c.*11 others(1227): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1201): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01255.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0004 | a0001c0001t0003g0070a0001c0002t0001g0117a0001c0002t0001g0178others(1): Show | 4 | 324 | 0.0124 | 1208 | c.857 others(1225): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507456 | A | ATACGTAT others(1201): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0261 | 1 | 388 | 0.0026 | 1208 | c.-23 others(1225): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1201): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 338 | 0.0030 | 1208 | c.*35 others(1227): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251507 | A | AAGGAAGG others(1202): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0103 | 1 | 242 | 0.0041 | 1209 | c.927 others(1226): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1202): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 391 | 0.0026 | 1209 | c.*36 others(1220): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209230 | T | TTCCTTCC others(1202): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0026 | 1 | 142 | 0.0070 | 1209 | c.244 others(1228): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939822 | G | GAAAGAAA others(1202): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 258 | 0.0039 | 1209 | c.403 others(1224): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1202): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 258 | 0.0039 | 1209 | c.403 others(1224): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1202): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 258 | 0.0039 | 1209 | c.403 others(1224): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1202): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 258 | 0.0039 | 1209 | c.403 others(1224): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(1202): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0018 | a0008c0018t0003 | a0008c0018t0003g0215 | 1 | 236 | 0.0042 | 1209 | c.294 others(1226): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(1202): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 236 | 0.0042 | 1209 | c.294 others(1226): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325946 | T | TTTTGTTT others(1202): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0098 | 1 | 100 | 0.0100 | 1209 | c.292 others(1228): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878226 | T | TATATATA others(1202): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 208 | 0.0048 | 1209 | c.192 others(1228): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1202): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01070.hp2 others(21): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(19): Show | a0001c0001t0001g0137a0001c0002t0002g0012a0001c0002t0002g0029others(21): Show | 24 | 316 | 0.0760 | 1209 | c.*49 others(1220): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1202): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 HG02615.hp2 |
a0026a0048 | a0026c0083a0048c0080 | a0026c0083t0001a0048c0080t0002 | a0026c0083t0001g0151a0048c0080t0002g0017 | 2 | 316 | 0.0063 | 1209 | c.*49 others(1220): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1202): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0011 | a0011c0087 | a0011c0087t0001 | a0011c0087t0001g0181 | 1 | 316 | 0.0032 | 1209 | c.*49 others(1220): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400913 | T | TCCACCAC others(1202): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0051 | a0051c0129 | a0051c0129t0004 | a0051c0129t0004g0144 | 1 | 256 | 0.0039 | 1209 | c.323 others(1228): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1202): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0057a0001c0002t0001g0097 | 6 | 374 | 0.0160 | 1209 | c.*14 others(1220): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1202): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 374 | 0.0027 | 1209 | c.*14 others(1220): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315169 | C | CCACCACC others(1202): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0094 | 1 | 250 | 0.0040 | 1209 | c.259 others(1228): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1202): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0391 | 1 | 418 | 0.0024 | 1209 | c.119 others(1228): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824248 | A | AGGAGCAC others(1202): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 143 | 0.0070 | 1209 | c.147 others(1226): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1898070 | C | CCCTGGCC others(1202): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 166 | 0.0060 | 1209 | c.771 others(1228): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1202): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0008 | a0006c0008t0023 | a0006c0008t0023g0122 | 1 | 400 | 0.0025 | 1209 | c.-5+ others(1222): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0099 | 1 | 388 | 0.0026 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0062 | 1 | 388 | 0.0026 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01070.hp1 others(21): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0003others(12): Show | a0001c0001t0002g0269a0001c0002t0001g0283a0001c0002t0001g0284others(19): Show | 24 | 388 | 0.0619 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02615.hp2 NA20752.hp2 |
a0001a0005 | a0001c0017a0005c0051 | a0001c0017t0009a0005c0051t0009 | a0001c0017t0009g0038a0001c0017t0009g0262a0005c0051t0009g0038 | 3 | 388 | 0.0077 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0014 | a0014c0048 | a0014c0048t0002 | a0014c0048t0002g0154 | 1 | 388 | 0.0026 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0088 | 1 | 388 | 0.0026 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1202): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0094 | 1 | 388 | 0.0026 | 1209 | c.-38 others(1228): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(1202): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0075 | 1 | 290 | 0.0035 | 1209 | c.129 others(1226): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1202): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0037 | a0037c0060 | a0037c0060t0005 | a0037c0060t0005g0022 | 1 | 134 | 0.0075 | 1209 | c.575 others(1230): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1202): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0079 | a0002c0079t0007 | a0002c0079t0007g0089 | 1 | 134 | 0.0075 | 1209 | c.575 others(1230): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1202): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18988.hp2 |
a0002a0012 | a0002c0031a0012c0027 | a0002c0031t0003a0012c0027t0002 | a0002c0031t0003g0014a0012c0027t0002g0005 | 2 | 134 | 0.0149 | 1209 | c.575 others(1230): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150168064 | C | CTTCTCTC others(1202): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 312 | 0.0032 | 1209 | c.306 others(1228): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1202): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 295 | 0.0034 | 1209 | c.715 others(1226): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1202): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02074.hp1 NA18955.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0125a0001c0001t0003g0235a0001c0001t0007g0047others(2): Show | 5 | 295 | 0.0170 | 1209 | c.715 others(1226): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 314650 | A | ACTCCACC others(1202): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02738.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0038a0001c0002t0009g0126 | 2 | 133 | 0.0150 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314650 | A | ACTCCACC others(1202): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 133 | 0.0075 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314723 | C | CTGACCTG others(1202): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0025 | 1 | 133 | 0.0075 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314723 | C | CTGACCTG others(1202): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 133 | 0.0075 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314723 | C | CTGACCTG others(1202): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0027others(36): Show | 39 | 133 | 0.2932 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314723 | C | CTGACCTG others(1202): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 133 | 0.0075 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314723 | C | CTGACCTG others(1202): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0004 | 1 | 133 | 0.0075 | 1209 | c.351 others(1226): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar |