| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP4F11_chr19_15907377_15939529 | 15933360 | GTGAGGAG others(579): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0302 | 1 | 386 | 0.0026 | -586 | c.198 others(15): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| GRIA4_chr11_105605073_105987090 | 105891942 | TATTGTAA others(579): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0011 | 1 | 184 | 0.0054 | -586 | c.726 others(17): Show |
GRIA4 | ENSG00000152578.15 | transcript | ENST00000282499.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PRORP_chr14_35117552_35282622 | 35233086 | ACTTCAGT others(579): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01346.hp2 others(12): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0030a0007c0011t0037 | a0001c0001t0003g0076a0001c0001t0003g0083a0001c0001t0003g0084others(12): Show | 15 | 314 | 0.0478 | -586 | c.127 others(21): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TTC39B_chr9_15158622_15312216 | 15285165 | GGGCTGAG others(579): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp2 NA18968.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0111a0002c0002t0199a0002c0002t0202others(1): Show | a0001c0001t0111g0143a0002c0002t0199g0170a0002c0002t0202g0167others(1): Show | 4 | 262 | 0.0153 | -586 | c.43- others(17): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 1/19 | chr9 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3145400 | TCCGAGTG others(578): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0209 | 3 | 350 | 0.0086 | -585 | c.788 others(17): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2105709 | GCTGGGCA others(578): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0024a0001c0022t0014 | a0001c0001t0024g0080a0001c0022t0014g0050 | 2 | 104 | 0.0192 | -585 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CNR2_chr1_23865515_23918362 | 23897126 | CAGCCTCC others(578): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 NA18959.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0001c0001t0001g0079a0002c0002t0002g0144a0002c0002t0007g0016others(2): Show | 5 | 268 | 0.0187 | -585 | c.-46 others(19): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240976151 | TCTCTGGG others(578): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0132a0002c0002t0002g0260 | 2 | 350 | 0.0057 | -585 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240976984 | TCCCAGGC others(578): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp2 HG02897.hp1 others(3): Show |
a0001a0055 | a0001c0001a0055c0035 | a0001c0001t0003a0001c0001t0004a0055c0035t0003 | a0001c0001t0003g0003a0001c0001t0003g0143a0001c0001t0004g0303others(2): Show | 6 | 350 | 0.0171 | -585 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EDIL3_chr5_83935554_84389880 | 84054868 | AAAATGGC others(578): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0002g0053a0001c0002t0001g0011a0001c0002t0001g0066others(20): Show | 23 | 158 | 0.1456 | -585 | c.113 others(19): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132241709 | ACCCTTCC others(578): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0175 | 1 | 183 | 0.0055 | -585 | c.107 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132290770 | ACCACAGC others(578): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0019others(69): Show | 72 | 183 | 0.3934 | -585 | c.239 others(17): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132290845 | TCCACAGC others(578): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0140 | 1 | 183 | 0.0055 | -585 | c.239 others(17): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GDF2_chr10_47317454_47332588 | 47328219 | ATGAGTGA others(578): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 424 | 0.0024 | -585 | c.*24 others(11): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 632 | chr10 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1047014 | TCTACACC others(578): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 438 | 0.0046 | -585 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| ITGB3BP_chr1_63435770_63528225 | 63503903 | TTGGTTAC others(578): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0248others(3): Show | 6 | 374 | 0.0160 | -585 | c.48+ others(15): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6272529 | GATTCAAC others(578): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 94 | 0.0106 | -585 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6272563 | GAGTTCTG others(578): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02809.hp2 NA18975.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0020a0001c0001t0002g0045a0002c0002t0001g0021others(2): Show | 5 | 94 | 0.0532 | -585 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195777254 | CCCATACC others(578): Show |
C | intron_variant | MODIFIER | HG01361.hp2 NA19043.hp2 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -585 | c.129 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| POLE_chr12_132618762_132692342 | 132688273 | CGGGGCGC others(578): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 NA20905.hp2 |
a0001a0003 | a0001c0039a0003c0003 | a0001c0039t0010a0003c0003t0001 | a0001c0039t0010g0013a0003c0003t0001g0049 | 2 | 292 | 0.0069 | -585 | c.-15 others(10): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 932 | chr12 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132688273 | CGGGGCGC others(578): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083 | 3 | 350 | 0.0086 | -585 | c.122 others(16): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740507 | CGGACAGT others(578): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0047 | 1 | 445 | 0.0023 | -585 | c.-24 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2363 | chr17 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168746328 | TGTGTGAG others(578): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0010 | a0001c0010t0033 | a0001c0010t0033g0103 | 1 | 132 | 0.0076 | -585 | c.227 others(19): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| TACC2_chr10_121984163_122259542 | 122200491 | GCACCTCA others(578): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG02622.hp1 others(7): Show |
a0008a0011a0017others(6): Show | a0008c0009a0011c0013a0017c0015others(6): Show | a0008c0009t0002a0008c0009t0003a0011c0013t0002others(7): Show | a0008c0009t0002g0159a0008c0009t0003g0223a0011c0013t0002g0168others(7): Show | 10 | 306 | 0.0327 | -585 | c.597 others(19): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| TCERG1L_chr10_131087391_131316721 | 131228194 | CGAGTCTC others(578): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 324 | 0.0031 | -585 | c.856 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
| TCERG1L_chr10_131087391_131316721 | 131228311 | GGAGTCTT others(578): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022 | a0001c0001t0001g0088a0001c0001t0004g0092a0001c0001t0022g0287 | 3 | 324 | 0.0093 | -585 | c.856 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
| DCC_chr18_52335197_53540899 | 53085989 | CTCCTTCT others(577): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG00673.hp2 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0014others(5): Show | a0001c0002t0003g0059a0001c0002t0008g0039a0001c0002t0014g0051others(9): Show | 12 | 114 | 0.1053 | -584 | c.126 others(21): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| FUT8_chr14_65407730_65749121 | 65690943 | CTCAAACT others(577): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0021 | a0001c0001t0002g0160a0001c0001t0006g0147a0001c0001t0006g0148others(8): Show | 11 | 374 | 0.0294 | -584 | c.835 others(19): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953401 | CCACCCCA others(577): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02040.hp2 HG02132.hp2 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0121a0001c0001t0001g0173a0001c0001t0001g0213others(6): Show | 9 | 294 | 0.0306 | -584 | c.503 others(15): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188784444 | CCATCATA others(577): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0010 | a0004c0010t0038 | a0004c0010t0038g0057 | 1 | 76 | 0.0132 | -584 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MED29_chr19_39386378_39405641 | 39396176 | TGTGCCTG others(577): Show |
T | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 388 | 0.0026 | -584 | c.361 others(16): Show |
MED29 | ENSG00000063322.15 | transcript | ENST00000315588.11 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3687006 | GCACAGCT others(577): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02523.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087a0002c0002t0002g0111 | 2 | 362 | 0.0055 | -584 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| TTLL7_chr1_83860024_84004132 | 83922658 | ATGCAAGA others(577): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122a0001c0001t0004g0123a0001c0001t0004g0124others(6): Show | 9 | 302 | 0.0298 | -584 | c.114 others(19): Show |
TTLL7 | ENSG00000137941.17 | transcript | ENST00000260505.13 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291330 | CACCGTCC others(577): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0174 | 2 | 284 | 0.0070 | -584 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ZNF99_chr19_22747183_22789151 | 22756178 | GAAAGCTT others(577): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01074.hp1 others(57): Show |
a0000a0003a0006others(2): Show | a0000c0005a0003c0003a0006c0012others(2): Show | a0000c0005t0008a0003c0003t0004a0003c0003t0007others(11): Show | a0000c0005t0008g0054a0000c0005t0008g0055a0000c0005t0008g0056others(53): Show | 60 | 344 | 0.1744 | -584 | c.*55 others(10): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 552 | chr19 | TogoVar | |||||
| BRF1_chr14_105204286_105306001 | 105276925 | CGAGAGGG others(576): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0056a0001c0001t0011g0027 | 2 | 72 | 0.0278 | -583 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| CUX2_chr12_111029165_111355554 | 111325795 | GGTGGGGG others(576): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 100 | 0.0100 | -583 | c.292 others(19): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1016191 | CGGCGCCT others(576): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -583 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTMR1_chrX_150688396_150770108 | 150759423 | GAACATTA others(576): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 270 | 0.0037 | -583 | c.185 others(19): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 15/15 | chrX | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 758814 | CTCCGGAC others(576): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0113a0001c0001t0026g0114 | 2 | 366 | 0.0055 | -583 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1739447 | AGTGGCCT others(576): Show |
A | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0122 | 1 | 445 | 0.0023 | -583 | c.-34 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3423 | chr17 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827629 | CTGAGTGG others(576): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0147 | 1 | 200 | 0.0050 | -583 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739447 | AGTGGCCT others(576): Show |
A | downstream_gene_variant | MODIFIER | NA19080.hp2 NA19084.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 2 | 431 | 0.0046 | -583 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 863 | chr17 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1087855 | GTTGTTGT others(575): Show |
G | intron_variant | MODIFIER | HG02155.hp1 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0117a0002c0002t0131 | a0001c0001t0117g0001a0002c0002t0131g0065 | 2 | 162 | 0.0124 | -582 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089145 | TATTATTA others(575): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0089 | a0002c0002t0089g0037 | 1 | 162 | 0.0062 | -582 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089613 | GTTGTTGT others(575): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01192.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0014others(15): Show | a0001c0001t0007g0044a0001c0001t0007g0048a0001c0001t0011g0034others(16): Show | 19 | 162 | 0.1173 | -582 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124506697 | GCGGGTAG others(575): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 260 | 0.0039 | -582 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085494 | CACTGTTG others(575): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG03209.hp1 |
a0002a0003 | a0002c0037a0003c0004 | a0002c0037t0001a0003c0004t0001 | a0002c0037t0001g0127a0003c0004t0001g0319 | 2 | 403 | 0.0050 | -582 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PDSS2_chr6_107147562_107464564 | 107203190 | AACCTAAG others(575): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 260 | 0.0039 | -582 | c.100 others(19): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
| ROBO2_chr3_77035099_77654964 | 77290305 | TGGGTAAG others(575): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 160 | 0.0063 | -582 | c.389 others(21): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |