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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIL1_chr5_138941724_139203368 | 139037106 | T | TAAAATTC others(1125): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0095 | 1 | 200 | 0.0050 | 1132 | c.453 others(1149): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43904942 | C | CCTCCCCC others(1125): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0016 |
2 | 274 | 0.0073 | 1132 | c.744 others(1149): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1125): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 a0001c0002t0002g0293 |
2 | 394 | 0.0051 | 1132 | c.129 others(1149): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1125): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18955.hp2 NA18969.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0054 |
3 | 394 | 0.0076 | 1132 | c.129 others(1149): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100276440 | G | GGGTGGGA others(1126): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0015 | a0015c0045 | a0015c0045t0003 | a0015c0045t0003g0023 | 1 | 228 | 0.0044 | 1133 | c.789 others(1150): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1126): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 182 | 0.0055 | 1133 | c.505 others(1152): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(1126): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 268 | 0.0037 | 1133 | c.-37 others(1144): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1126): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 242 | 0.0041 | 1133 | c.927 others(1150): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1126): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 242 | 0.0041 | 1133 | c.927 others(1150): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1126): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 242 | 0.0041 | 1133 | c.927 others(1150): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1126): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 210 | 0.0048 | 1133 | c.273 others(1150): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1126): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0004 | a0003c0004t0071 | a0003c0004t0071g0250 | 1 | 376 | 0.0027 | 1133 | c.63+ others(1146): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1126): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 |
a0004 | a0004c0007 | a0004c0007t0036a0004c0007t0075 | a0004c0007t0036g0223 a0004c0007t0075g0224 |
2 | 376 | 0.0053 | 1133 | c.63+ others(1146): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2407397 | T | TTCATCAT others(1126): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0101 | 1 | 104 | 0.0096 | 1133 | c.478 others(1152): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1126): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 340 | 0.0029 | 1133 | c.161 others(1152): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1126): Show |
intron_variant | MODIFIER | HG02293.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0204 |
2 | 340 | 0.0059 | 1133 | c.161 others(1152): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1126): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 350 | 0.0029 | 1133 | c.94- others(1146): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1126): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 366 | 0.0027 | 1133 | c.-36 others(1144): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1126): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0197 | 1 | 366 | 0.0027 | 1133 | c.-36 others(1144): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1126): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0166 | 1 | 348 | 0.0029 | 1133 | c.*87 others(1142): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1126): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0167 | 1 | 348 | 0.0029 | 1133 | c.*87 others(1142): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1126): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0230 | a0001c0001t0230g0210 | 1 | 276 | 0.0036 | 1133 | c.*65 others(1144): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38356155 | A | ACCACACC others(1126): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp2 HG02056.hp2 others(22): Show |
a0001a0015a0019others(2): Show | a0001c0001a0001c0003a0015c0029others(3): Show | a0001c0001t0001a0001c0003t0001a0015c0029t0001others(3): Show | a0001c0001t0001g0220 a0001c0003t0001g0004 a0001c0003t0001g0055 others(20): Show |
25 | 394 | 0.0635 | 1133 | c.588 others(1148): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1126): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 108 | 0.0093 | 1133 | c.648 others(1152): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1126): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0088 a0001c0002t0005g0089 |
2 | 394 | 0.0051 | 1133 | c.-8+ others(1146): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2004256 | G | GGCATTCT others(1126): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0092 | 1 | 104 | 0.0096 | 1133 | c.-15 others(1152): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150404 | G | GCTCCTAC others(1126): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0037 | a0003c0037t0001 | a0003c0037t0001g0063 | 1 | 294 | 0.0034 | 1133 | c.902 others(1148): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535823 | G | GGGTGGGT others(1126): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0223 | 1 | 324 | 0.0031 | 1133 | c.140 others(1150): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(1126): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0033 |
2 | 360 | 0.0056 | 1133 | c.*35 others(1144): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1126): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 376 | 0.0053 | 1133 | c.*15 others(1144): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1126): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0012 | a0012c0074 | a0012c0074t0005 | a0012c0074t0005g0247 | 1 | 322 | 0.0031 | 1133 | c.*48 others(1144): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1126): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp1 |
a0001a0006 | a0001c0001a0006c0072 | a0001c0001t0008a0006c0072t0005 | a0001c0001t0008g0182 a0006c0072t0005g0261 |
2 | 322 | 0.0062 | 1133 | c.*48 others(1144): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397617 | A | AGGGGGCC others(1126): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0022 | a0022c0020 | a0022c0020t0004 | a0022c0020t0004g0292 | 1 | 340 | 0.0029 | 1133 | c.227 others(1150): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGCC others(1126): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0225 | 1 | 340 | 0.0029 | 1133 | c.227 others(1150): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGGC others(1126): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0102 | 1 | 340 | 0.0029 | 1133 | c.227 others(1150): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGGC others(1126): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19084.hp2 |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0042 a0001c0003t0018g0045 |
2 | 340 | 0.0059 | 1133 | c.227 others(1150): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1126): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 304 | 0.0033 | 1133 | c.347 others(1148): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1126): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0024 | a0002c0024t0034 | a0002c0024t0034g0018 | 1 | 280 | 0.0036 | 1133 | c.89- others(1146): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1126): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 258 | 0.0039 | 1133 | c.113 others(1152): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930531 | G | GTTAGGGA others(1126): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 466 | 0.0022 | 1133 | c.*50 others(1144): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4838 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930531 | G | GTTAGGGA others(1126): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 466 | 0.0022 | 1133 | c.*50 others(1144): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4838 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(1126): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0153 | 1 | 174 | 0.0058 | 1133 | c.41- others(1150): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1126): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02132.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 a0001c0002t0002g0075 |
2 | 394 | 0.0051 | 1133 | c.129 others(1150): 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(1126): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0048 others(4): Show |
9 | 394 | 0.0228 | 1133 | c.129 others(1150): 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(1126): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 394 | 0.0025 | 1133 | c.129 others(1150): 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(1126): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 394 | 0.0025 | 1133 | c.129 others(1150): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1126): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 126 | 0.0079 | 1133 | c.-28 others(1152): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58609999 | T | TGAAAATG others(1127): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0115a0001c0001t0116 | a0001c0001t0045g0088 a0001c0001t0045g0089 a0001c0001t0115g0330 others(1): Show |
4 | 342 | 0.0117 | 1134 | c.202 others(1151): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 14/15 | chr15 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111205 | A | AACCTGCC others(1127): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0022 | 1 | 368 | 0.0027 | 1134 | c.401 others(1151): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111583 | A | AACCTGCC others(1127): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0293 | 1 | 368 | 0.0027 | 1134 | c.401 others(1151): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |