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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1061): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0011 | a0001c0011t0088 | a0001c0011t0088g0091 | 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 | |||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1061): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 264 | 0.0038 | 1068 | c.141 others(1087): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1061): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 264 | 0.0038 | 1068 | c.141 others(1087): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175132476 | C | CGGGGGGC others(1061): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 |
a0002a0003 | a0002c0004a0003c0007 | a0002c0004t0033a0003c0007t0024 | a0002c0004t0033g0022a0003c0007t0024g0049 | 2 | 64 | 0.0313 | 1068 | c.545 others(1087): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(1061): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
a0002a0006a0016others(1): Show | a0002c0121a0006c0004a0016c0134others(1): Show | a0002c0121t0028a0006c0004t0001a0016c0134t0001others(1): Show | a0002c0121t0028g0117a0006c0004t0001g0116a0016c0134t0001g0172others(1): Show | 4 | 234 | 0.0171 | 1068 | c.816 others(1085): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977906 | A | AAGAGAGG others(1061): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 208 | 0.0048 | 1068 | c.279 others(1083): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 322 | 0.0031 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0280 | 1 | 322 | 0.0031 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 322 | 0.0031 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0088others(112): Show | 115 | 322 | 0.3571 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 322 | 0.0031 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(102): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0198a0001c0001t0001g0257a0001c0001t0002g0077others(102): Show | 105 | 322 | 0.3261 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1061): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152a0001c0002t0003g0246 | 2 | 322 | 0.0062 | 1068 | c.310 others(1085): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811271 | T | TTCCTTCC others(1061): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0121 | 1 | 178 | 0.0056 | 1068 | c.773 others(1083): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1061): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0012 | 1 | 308 | 0.0033 | 1068 | c.371 others(1085): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131917916 | G | GTGTAGGG others(1061): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 | 1 | 394 | 0.0025 | 1068 | c.101 others(1087): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1061): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 276 | 0.0036 | 1068 | c.139 others(1085): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1061): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 154 | 0.0065 | 1068 | c.-31 others(1085): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(1061): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0061 | 1 | 180 | 0.0056 | 1068 | c.-35 others(1089): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1061): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0318 | 1 | 334 | 0.0030 | 1068 | c.45- others(1083): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(1061): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 392 | 0.0026 | 1068 | c.228 others(1087): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1061): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1068 | c.*24 others(1079): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1061): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 360 | 0.0028 | 1068 | c.*24 others(1079): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1061): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0164 | 1 | 394 | 0.0025 | 1068 | c.129 others(1085): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1061): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0177 | 1 | 394 | 0.0025 | 1068 | c.129 others(1085): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241674957 | T | TCCCTCCT others(1061): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 326 | 0.0031 | 1068 | c.483 others(1083): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501492 | C | CATCCCGC others(1061): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0308 | 1 | 318 | 0.0031 | 1068 | c.268 others(1087): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345208 | G | GCGGGGGG others(1062): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0007 | a0007c0007t0035 | a0007c0007t0035g0222 | 1 | 268 | 0.0037 | 1069 | c.62+ others(1084): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1062): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0112a0001c0001t0001g0140a0001c0001t0011g0141 | 3 | 238 | 0.0126 | 1069 | c.787 others(1084): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(1062): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0004 | a0001c0001t0001g0303a0001c0001t0009g0052a0001c0001t0009g0229others(3): Show | 6 | 326 | 0.0184 | 1069 | c.-13 others(1088): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0050 | a0005c0050t0001 | a0005c0050t0001g0047 | 1 | 278 | 0.0036 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 NA19240.hp1 |
a0011a0027a0061 | a0011c0010a0027c0034a0061c0095 | a0011c0010t0008a0027c0034t0001a0061c0095t0001 | a0011c0010t0008g0015a0027c0034t0001g0076a0061c0095t0001g0040 | 3 | 278 | 0.0108 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0052 | a0052c0062 | a0052c0062t0001 | a0052c0062t0001g0246 | 1 | 278 | 0.0036 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135097 | G | GCTCCTCC others(1062): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 334 | 0.0060 | 1069 | c.*41 others(1080): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1496 | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379038 | G | GGCCGAGG others(1062): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0066 | 1 | 82 | 0.0122 | 1069 | c.120 others(1086): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1319737 | A | ATGGTGGC others(1062): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02630.hp2 others(4): Show |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0000 | 7 | 406 | 0.0172 | 1069 | c.*58 others(1080): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4980 | chr6 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(1062): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 1069 | c.*50 others(1080): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 236 | 0.0042 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 236 | 0.0042 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0020a0001c0002t0008 | a0001c0001t0006g0012a0001c0001t0020g0010a0001c0002t0008g0011 | 3 | 236 | 0.0127 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1062): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 NA20129.hp1 |
a0004a0059a0065 | a0004c0079a0059c0077a0065c0081 | a0004c0079t0002a0059c0077t0002a0065c0081t0002 | a0004c0079t0002g0103a0059c0077t0002g0168a0065c0081t0002g0016 | 3 | 228 | 0.0132 | 1069 | c.252 others(1088): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1062): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03579.hp2 |
a0028a0064 | a0028c0051a0028c0052a0064c0050 | a0028c0051t0001a0028c0052t0001a0064c0050t0002 | a0028c0051t0001g0071a0028c0052t0001g0106a0064c0050t0002g0081 | 3 | 228 | 0.0132 | 1069 | c.252 others(1088): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0252 | 1 | 322 | 0.0031 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(28): Show | 31 | 322 | 0.0963 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0001g0304others(2): Show | 5 | 322 | 0.0155 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0076a0001c0001t0001g0132a0001c0001t0003g0041others(2): Show | 5 | 322 | 0.0155 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 322 | 0.0031 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGAA others(1062): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0094 | 1 | 326 | 0.0031 | 1069 | c.162 others(1088): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1062): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 373 | 0.0027 | 1069 | c.115 others(1086): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(1063): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0321 | 1 | 337 | 0.0030 | 1070 | c.61+ others(1085): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar |