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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1060): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0076 | 1 | 264 | 0.0038 | 1067 | c.141 others(1086): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1060): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 264 | 0.0038 | 1067 | c.141 others(1086): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1060): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01070.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0236a0001c0001t0002g0055others(20): Show | 23 | 264 | 0.0871 | 1067 | c.141 others(1086): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1060): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231a0001c0001t0002g0232 | 2 | 264 | 0.0076 | 1067 | c.141 others(1086): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 322 | 0.0031 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0020a0001c0003t0005g0021a0001c0003t0005g0022others(4): Show | 7 | 322 | 0.0217 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02129.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(5): Show | 8 | 322 | 0.0248 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01256.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(6): Show | 9 | 322 | 0.0280 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0141a0001c0001t0001g0224others(16): Show | 19 | 322 | 0.0590 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 322 | 0.0031 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1060): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 322 | 0.0031 | 1067 | c.310 others(1084): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353989 | A | ATCTATGA others(1060): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0050 | 1 | 346 | 0.0029 | 1067 | c.176 others(1086): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398199 | A | ATCACCTC others(1060): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101a0001c0003t0001g0102 | 2 | 216 | 0.0093 | 1067 | c.106 others(1084): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1060): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0188 | 2 | 370 | 0.0054 | 1067 | c.438 others(1084): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 626428 | C | CGTTCCTC others(1060): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0172 | a0001c0001t0172g0064 | 1 | 220 | 0.0046 | 1067 | c.-44 others(1078): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4362 | chrX | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1060): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 186 | 0.0054 | 1067 | c.-50 others(1078): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637435 | T | TTATATAT others(1060): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 268 | 0.0037 | 1067 | c.*72 others(1078): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3901 | chr10 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(1060): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0014 | a0004c0014t0013 | a0004c0014t0013g0288 | 1 | 352 | 0.0028 | 1067 | c.299 others(1084): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TSPAN3_chr15_77036404_77076109 | 77038304 | A | AGAAAGGA others(1060): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 3 | 0.3333 | 1067 | c.*85 others(1078): Show |
TSPAN3 | ENSG00000140391.15 | transcript | ENST00000267970.9 | protein_coding | 3099 | chr15 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917123 | G | GTCGGGTG others(1060): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 344 | 0.0029 | 1067 | c.218 others(1082): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1060): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 274 | 0.0037 | 1067 | c.*51 others(1078): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1060): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 4 | 274 | 0.0146 | 1067 | c.*51 others(1078): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1060): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 246 | 0.0041 | 1067 | c.-10 others(1084): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(1061): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074 | 2 | 306 | 0.0065 | 1068 | c.130 others(1087): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1061): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0002a0004 | a0002c0078a0004c0077 | a0002c0078t0007a0004c0077t0001 | a0002c0078t0007g0184a0004c0077t0001g0185 | 2 | 228 | 0.0088 | 1068 | c.118 others(1087): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1061): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 226 | 0.0044 | 1068 | c.217 others(1087): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(1061): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0025 | 1 | 300 | 0.0033 | 1068 | c.654 others(1087): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1061): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01993.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0060others(3): Show | 6 | 326 | 0.0184 | 1068 | c.327 others(1085): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGCGTAGG others(1061): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0010a0006c0004others(2): Show | a0001c0001t0001a0002c0010t0005a0006c0004t0004others(2): Show | a0001c0001t0001g0208a0002c0010t0005g0270a0006c0004t0004g0187others(2): Show | 6 | 338 | 0.0178 | 1068 | c.300 others(1085): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1186103 | G | GGCGTGCG others(1061): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG01943.hp1 |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0009a0007c0005t0003a0007c0005t0008 | a0001c0001t0009g0216a0007c0005t0003g0166a0007c0005t0008g0272 | 3 | 338 | 0.0089 | 1068 | c.300 others(1085): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1061): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0105 | 1 | 278 | 0.0036 | 1068 | c.328 others(1085): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1061): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0159 | 1 | 278 | 0.0036 | 1068 | c.328 others(1085): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516740 | G | GTAGGGTG others(1061): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0078 | 1 | 88 | 0.0114 | 1068 | c.86- others(1085): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(1061): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 | 1 | 404 | 0.0025 | 1068 | c.332 others(1083): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89618921 | T | TCCCCTCC others(1061): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 250 | 0.0040 | 1068 | c.-10 others(1087): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1061): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 1068 | c.*22 others(1079): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(1061): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0143 | 1 | 288 | 0.0035 | 1068 | c.190 others(1087): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1061): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0010a0001c0024a0003c0007 | a0001c0010t0001a0001c0010t0004a0001c0024t0010others(1): Show | a0001c0010t0001g0088a0001c0010t0004g0018a0001c0024t0010g0062others(1): Show | 4 | 125 | 0.0320 | 1068 | c.928 others(1085): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0101a0001c0001t0003g0095 | 2 | 274 | 0.0073 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0043 | 2 | 274 | 0.0073 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0111 | 2 | 274 | 0.0073 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1061): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 274 | 0.0037 | 1068 | c.804 others(1085): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IFI44L_chr1_78615448_78651145 | 78634142 | T | TAGAAATC others(1061): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19057.hp2 NA19063.hp1 |
a0003 | a0003c0003 | a0003c0003t0035a0003c0003t0140 | a0003c0003t0035g0044a0003c0003t0140g0110 | 3 | 430 | 0.0070 | 1068 | c.724 others(1085): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(1061): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0254 | 2 | 375 | 0.0053 | 1068 | c.-22 others(1079): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCAC others(1061): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 294 | 0.0034 | 1068 | c.503 others(1083): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283422 | C | CACTTACT others(1061): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0207 | 1 | 296 | 0.0034 | 1068 | c.368 others(1085): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 108 | 0.0093 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0106 | 1 | 108 | 0.0093 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0064 | 1 | 108 | 0.0093 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0039others(2): Show | a0001c0001t0001g0015a0001c0001t0012g0074a0001c0001t0039g0098others(2): Show | 5 | 108 | 0.0463 | 1068 | c.648 others(1087): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |