| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EHMT1_chr9_137614005_137841127 | 137818537 | TGTAGAGA others(753): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 170 | 0.0059 | -760 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EXOC2_chr6_480154_698139 | 601195 | TCCCCTTG others(753): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0010 | a0001c0003t0003a0001c0004t0003a0001c0010t0002 | a0001c0003t0003g0223a0001c0004t0003g0116a0001c0010t0002g0264others(1): Show | 4 | 272 | 0.0147 | -760 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188784731 | TATATATA others(753): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02896.hp2 HG03540.hp1 others(1): Show |
a0002 | a0002c0003a0002c0004a0002c0007 | a0002c0003t0022a0002c0003t0028a0002c0004t0045others(1): Show | a0002c0003t0022g0054a0002c0003t0028g0061a0002c0004t0045g0026others(1): Show | 4 | 76 | 0.0526 | -760 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1904308 | CGGAACTC others(753): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp2 others(24): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0090a0001c0001t0001g0169a0001c0001t0001g0181others(24): Show | 27 | 264 | 0.1023 | -760 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| ROR2_chr9_91717601_91955228 | 91797328 | ATCTGTGG others(753): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(58): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(19): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0051others(58): Show | 61 | 226 | 0.2699 | -760 | c.98- others(17): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| WDR33_chr2_127696027_127816171 | 127787667 | ACCCCCCC others(753): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012a0001c0001t0010g0013a0001c0001t0010g0014 | 3 | 318 | 0.0094 | -760 | c.-23 others(19): Show |
WDR33 | ENSG00000136709.12 | transcript | ENST00000322313.9 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132914022 | CCCCCGCC others(752): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 246 | 0.0041 | -759 | c.212 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223361 | ACNNNNNN others(752): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0026others(1): Show | a0001c0001t0001a0001c0002t0005a0001c0026t0014others(1): Show | a0001c0001t0001g0149a0001c0002t0005g0066a0001c0026t0014g0052others(1): Show | 4 | 183 | 0.0219 | -759 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| ACKR2_chr3_42804445_42872286 | 42851733 | GCTGGGGG others(751): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 342 | 0.0029 | -758 | c.-37 others(19): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1238183 | CCCTGCAT others(751): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 106 | 0.0094 | -758 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| FAM210A_chr18_13658347_13731558 | 13674006 | ATTTCCAG others(751): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0139 | 1 | 326 | 0.0031 | -758 | c.474 others(17): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | ||||||
| GALNT13_chr2_153866922_154458979 | 154007242 | ACAGGGAC others(751): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 214 | 0.0047 | -758 | c.142 others(19): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP13A3_chr3_194397677_194492002 | 194400434 | TTAAGACT others(750): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0007 | 1 | 304 | 0.0033 | -757 | c.*47 others(11): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2242 | chr3 | TogoVar | ||||||
| ATP13A3_chr3_194397677_194492002 | 194400435 | TAAGACTT others(750): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp1 others(140): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0134a0001c0001t0002g0181a0001c0001t0002g0190others(140): Show | 143 | 304 | 0.4704 | -757 | c.*47 others(11): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2241 | chr3 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137818671 | GGCGCCGT others(750): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 170 | 0.0059 | -757 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GP5_chr3_194389821_194404266 | 194400434 | TTAAGACT others(750): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0021 | 2 | 384 | 0.0052 | -757 | c.-19 others(11): Show |
GP5 | ENSG00000178732.6 | transcript | ENST00000692618.1 | protein_coding | 1169 | chr3 | TogoVar | ||||||
| GP5_chr3_194389821_194404266 | 194400435 | TAAGACTT others(750): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00621.hp1 others(149): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0003g0008others(19): Show | 152 | 384 | 0.3958 | -757 | c.-19 others(11): Show |
GP5 | ENSG00000178732.6 | transcript | ENST00000692618.1 | protein_coding | 1170 | chr3 | TogoVar | ||||||
| MICALL2_chr7_1429359_1464470 | 1455518 | GGCCGTAA others(750): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0012 | 2 | 280 | 0.0071 | -757 | c.143 others(17): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
| NRXN1_chr2_49913503_51037132 | 50253901 | TTTGATGT others(750): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101a0001c0002t0001g0104 | 2 | 116 | 0.0172 | -757 | c.336 others(21): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(750): Show |
T | intron_variant | MODIFIER | HG00544.hp2 NA18973.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0014 | a0001c0001t0005g0110a0001c0001t0006g0109a0001c0001t0014g0130 | 3 | 244 | 0.0123 | -757 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PPP2R3B_chrX_328933_391907 | 343261 | GGAGGCGG others(750): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0005 | a0008c0005t0003 | a0008c0005t0003g0006 | 1 | 25 | 0.0400 | -757 | c.103 others(19): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
| TNNI3K_chr1_74230387_74549428 | 74364044 | GGCTGGAG others(750): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0010 | a0010c0007 | a0010c0007t0001 | a0010c0007t0001g0110 | 1 | 194 | 0.0052 | -757 | c.117 others(19): Show |
TNNI3K | ENSG00000116783.15 | transcript | ENST00000326637.8 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRIM55_chr8_66122129_66180485 | 66123887 | TGTTTTTT others(750): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 248 | 0.0040 | -757 | c.-33 others(11): Show |
TRIM55 | ENSG00000147573.17 | transcript | ENST00000315962.9 | protein_coding | 3241 | chr8 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237970 | CCCTCTGC others(749): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 106 | 0.0094 | -756 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| AKIRIN2_chr6_87669860_87707233 | 87688490 | AATCCCAG others(749): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 406 | 0.0025 | -756 | c.236 others(17): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
| ANKLE2_chr12_132720503_132766832 | 132732176 | CGCACCGT others(749): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0012t0001 | a0001c0001t0001g0144a0001c0001t0001g0182a0001c0001t0006g0174others(4): Show | 7 | 350 | 0.0200 | -756 | c.189 others(19): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89429130 | GACTCTCA others(749): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01515.hp1 HG01517.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0024others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0024t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0151a0001c0001t0001g0196others(5): Show | 8 | 310 | 0.0258 | -756 | c.-14 others(21): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89647539 | AGTGGAGA others(749): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 392 | 0.0026 | -756 | c.253 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| EDARADD_chr1_236389286_236489930 | 236420806 | GTCTCGGC others(749): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01192.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0109others(26): Show | 29 | 294 | 0.0986 | -756 | c.160 others(17): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EDDM13_chr19_56267748_56315454 | 56306300 | CGCCAGAG others(749): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 396 | 0.0025 | -756 | c.461 others(17): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EIF2AK2_chr2_37094210_37161980 | 37120508 | CAAAAAAA others(749): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01952.hp1 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0066 | a0001c0001t0004g0047a0001c0001t0004g0155a0001c0001t0004g0156others(6): Show | 9 | 326 | 0.0276 | -756 | c.106 others(18): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
| FANCD2_chr3_10021437_10106932 | 10050438 | CACGGTGA others(749): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0168 | 1 | 242 | 0.0041 | -756 | c.154 others(18): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 17/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132772027 | ACCCGATG others(749): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 204 | 0.0049 | -756 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MICAL3_chr22_17782649_18029561 | 17876721 | TGGAGGTT others(749): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0057 | a0007c0057t0002 | a0007c0057t0002g0199 | 1 | 274 | 0.0037 | -756 | c.224 others(19): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114083824 | ACGGGGAA others(749): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0029 | 1 | 67 | 0.0149 | -756 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114084617 | GTCCTCGC others(749): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 67 | 0.0149 | -756 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114086499 | CTCCCTTC others(749): Show |
C | intron_variant | MODIFIER | HG04115.hp2 NA18945.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0010t0002 | a0001c0002t0002g0057a0001c0010t0002g0052 | 2 | 67 | 0.0299 | -756 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80744091 | CCCTGGTT others(749): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03486.hp1 |
a0001 | a0001c0047a0001c0048 | a0001c0047t0012a0001c0048t0073 | a0001c0047t0012g0150a0001c0048t0073g0144 | 2 | 196 | 0.0102 | -756 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 933980 | AGGGGAGG others(749): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 434 | 0.0023 | -756 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934064 | AGGGGAGG others(749): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA19001.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0088 | 3 | 434 | 0.0069 | -756 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934092 | AGGGGAGG others(749): Show |
A | intron_variant | MODIFIER | NA18612.hp2 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0025 | a0001c0002t0004g0327a0001c0002t0025g0344 | 2 | 434 | 0.0046 | -756 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934148 | AGGGGAGG others(749): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0036 | a0004c0036t0002 | a0004c0036t0002g0346 | 1 | 434 | 0.0023 | -756 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM132C_chr12_128262170_128712911 | 128326752 | CAGATGTC others(749): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02622.hp1 others(9): Show |
a0003a0004a0005others(4): Show | a0003c0016a0003c0072a0004c0007others(7): Show | a0003c0016t0002a0003c0072t0007a0004c0007t0002others(8): Show | a0003c0016t0002g0015a0003c0072t0007g0118a0004c0007t0002g0090others(9): Show | 12 | 170 | 0.0706 | -756 | c.85+ others(17): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZSCAN5A_chr19_56216303_56319839 | 56306300 | CGCCAGAG others(749): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0343 | 1 | 362 | 0.0028 | -756 | c.-12 others(19): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ATRNL1_chr10_115088365_115953999 | 115714063 | CATATTAA others(748): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0063 | 1 | 128 | 0.0078 | -755 | c.379 others(21): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CHMP1A_chr16_89639435_89662708 | 89647617 | GGGGTCGG others(748): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 392 | 0.0026 | -755 | c.252 others(15): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| EIF2AK2_chr2_37094210_37161980 | 37120508 | CAAAAAAA others(748): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01358.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0031 | a0001c0001t0004g0162a0001c0001t0027g0161a0001c0001t0031g0006 | 3 | 326 | 0.0092 | -755 | c.106 others(18): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
| TNK2_chr3_195858364_195913551 | 195874579 | TCCCCCTC others(748): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0023 | a0023c0052 | a0023c0052t0005 | a0023c0052t0005g0198 | 1 | 372 | 0.0027 | -755 | c.125 others(19): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 990366 | CCCCCTGC others(747): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -754 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| EDIL3_chr5_83935554_84389880 | 84293434 | TCTGTGCT others(747): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0019a0001c0004t0010 | a0001c0001t0019g0155a0001c0004t0010g0156a0001c0004t0010g0157 | 3 | 158 | 0.0190 | -754 | c.68- others(17): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar |