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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(377): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 384 | c.-26 others(395): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(377): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 384 | c.-26 others(395): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(377): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 384 | c.-26 others(395): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(377): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 118 | 0.0085 | 384 | c.*35 others(395): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(377): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03225.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0003 | a0001c0001t0002g0069 a0001c0001t0003g0071 a0002c0004t0003g0019 others(4): Show |
7 | 124 | 0.0565 | 384 | c.*35 others(395): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106577 | T | TGAGTCTG others(377): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0023 | 1 | 342 | 0.0029 | 384 | c.*18 others(397): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1182 | chr22 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106577 | T | TGAGTCTG others(377): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00642.hp1 others(51): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(22): Show | a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0019 others(35): Show |
54 | 395 | 0.1367 | 384 | c.*18 others(397): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1182 | chr22 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCC others(377): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG01243.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0009 | 4 | 18 | 0.2222 | 384 | c.122 others(399): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(377): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157 a0001c0001t0008g0158 |
2 | 169 | 0.0118 | 384 | c.-49 others(395): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(377): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01361.hp2 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0050others(7): Show | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(11): Show |
14 | 181 | 0.0773 | 384 | c.-49 others(395): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(377): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01515.hp1 HG02004.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0004 | a0001c0001t0001g0187 a0001c0010t0004g0189 a0001c0010t0004g0190 |
3 | 170 | 0.0176 | 384 | c.-49 others(395): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401900 | C | CGACCCGC others(377): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 139 | 0.0072 | 384 | c.173 others(403): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9188739 | C | CTGTTCAT others(377): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 74 | 0.0135 | 384 | c.-78 others(403): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9188739 | C | CTGTTCAT others(377): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02622.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0001 | a0001c0001t0001g0085 a0001c0001t0003g0138 a0001c0008t0001g0086 |
3 | 76 | 0.0395 | 384 | c.-78 others(403): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(377): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 113 | 0.0088 | 384 | c.-27 others(393): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809191 | G | GATAGATA others(377): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0129 | 1 | 313 | 0.0032 | 384 | c.79- others(401): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6397565 | A | ACGTGCCC others(377): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(104): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(104): Show |
107 | 296 | 0.3615 | 384 | c.71- others(401): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3163321 | C | CCACAGAA others(377): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0141 | 1 | 76 | 0.0132 | 384 | c.38- others(401): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163321 | C | CCGCAGAA others(377): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03540.hp1 |
a0001 | a0001c0016a0001c0025 | a0001c0016t0020a0001c0025t0044 | a0001c0016t0020g0108 a0001c0025t0044g0109 |
2 | 77 | 0.0260 | 384 | c.38- others(401): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163321 | C | CCGCAGAA others(377): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(15): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(15): Show | a0001c0001t0001g0203 a0001c0001t0002g0012 a0001c0001t0011g0047 others(15): Show |
18 | 93 | 0.1935 | 384 | c.38- others(401): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163321 | C | CCGCAGAA others(377): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18990.hp1 |
a0001a0009 | a0001c0001a0009c0028 | a0001c0001t0001a0009c0028t0015 | a0001c0001t0001g0179 a0009c0028t0015g0209 |
2 | 77 | 0.0260 | 384 | c.38- others(401): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3181565 | C | CGGTCTTA others(377): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 132 | 0.0076 | 384 | c.38- others(399): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504502 | T | TTCCTGTA others(377): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(17): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0002a0001c0002t0005a0001c0002t0016others(2): Show | a0001c0002t0002g0121 a0001c0002t0002g0141 a0001c0002t0002g0146 others(17): Show |
20 | 29 | 0.6897 | 384 | c.139 others(403): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(377): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0197 | 1 | 16 | 0.0625 | 384 | c.188 others(403): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646191 | C | CCACCTCC others(377): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0057 | 1 | 178 | 0.0056 | 384 | c.-35 others(405): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(377): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 234 | 0.0043 | 384 | c.3+2 others(399): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(377): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18991.hp1 NA19005.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0042 |
6 | 11 | 0.5455 | 384 | c.182 others(401): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881852 | C | CTATATAG others(377): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 417 | 0.0024 | 384 | c.*21 others(395): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1932 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881896 | C | CTATATAT others(377): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 415 | 0.0024 | 384 | c.*21 others(395): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1976 | chr13 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10610071 | C | CTTTAGTC others(377): Show |
conservative_inframe_insertion | MODERATE | NA19002.hp2 NA19063.hp1 |
a0049 | a0049c0040 | a0049c0040t0002 | a0049c0040t0002g0070 a0049c0040t0002g0250 |
2 | 307 | 0.0065 | 384 | c.402 others(393): Show |
p.Lys others(399): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 4291/8014 | 4026/7203 | 1342/2400 | chr8 | TogoVar | |||
RPA3_chr7_7631518_7723607 | 7678876 | T | TATAAATA others(377): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 280 | 0.0036 | 384 | c.-75 others(403): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(377): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 2 | 0.5000 | 384 | c.807 others(401): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 214433 | C | CCTGCCAA others(377): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 352 | 0.0028 | 384 | c.*43 others(395): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 3710 | chr2 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402115 | C | CGCTCACC others(377): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 227 | 0.0044 | 384 | c.*37 others(395): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3600 | chr11 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(377): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 89 | 0.0112 | 384 | c.688 others(401): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC27A5_chr19_58493333_58516992 | 58502500 | T | TAGAGTAG others(377): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0216 | 1 | 417 | 0.0024 | 384 | c.105 others(403): Show |
SLC27A5 | ENSG00000083807.10 | transcript | ENST00000263093.7 | protein_coding | 3/9 | chr19 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(377): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0334 | 1 | 132 | 0.0076 | 384 | c.-70 others(401): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168755389 | A | ATTTCTTT others(377): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0037 | 1 | 10 | 0.1000 | 384 | c.168 others(403): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245974749 | C | CAGGGAAA others(377): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 125 | 0.0080 | 384 | c.532 others(403): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245974821 | C | CAGGGAAA others(377): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0001 | 1 | 128 | 0.0078 | 384 | c.532 others(403): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245975969 | G | GGCCCAGG others(377): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 128 | 0.0078 | 384 | c.532 others(403): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245976141 | C | CAGGGAAA others(377): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0129 | 1 | 120 | 0.0083 | 384 | c.532 others(403): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245976592 | C | CGGCCCAG others(377): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0077 | 1 | 102 | 0.0098 | 384 | c.532 others(403): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4462490 | C | CACCCACC others(377): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 305 | 0.0033 | 384 | c.111 others(403): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462724 | C | CCAGTCTA others(377): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0147 others(4): Show |
7 | 360 | 0.0194 | 384 | c.111 others(403): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(377): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 9 | 0.1111 | 384 | c.*75 others(395): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671675 | A | AATAGAAA others(377): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0023 | 1 | 127 | 0.0079 | 384 | c.99+ others(399): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TCF12_chr15_56913644_57294853 | 57075835 | T | TTTTCTTT others(377): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0015 | 1 | 137 | 0.0073 | 384 | c.222 others(403): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290299 | G | GGCCGTGC others(377): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0208 | 1 | 390 | 0.0026 | 384 | c.157 others(403): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113625265 | T | TGTCCTCA others(377): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 335 | 0.0030 | 384 | c.186 others(401): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |