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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114029470 | GGGGCCAG others(155): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 67 | 0.0299 | -162 | c.449 others(15): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 5/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114075460 | GCCGCGTA others(155): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0017a0001c0001t0005g0018 | 2 | 67 | 0.0299 | -162 | c.56- others(15): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114083511 | CTGAGTCT others(155): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01175.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0006a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0006g0012a0001c0002t0001g0058a0001c0002t0002g0055others(4): Show | 7 | 67 | 0.1045 | -162 | c.56- others(15): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114085427 | CTCCTCGC others(155): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -162 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114086183 | GTCCTCGC others(155): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0021 | 1 | 67 | 0.0149 | -162 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114086632 | CCGGGGAA others(155): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 | 1 | 67 | 0.0149 | -162 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114087093 | CTCCCTTC others(155): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01981.hp2 others(3): Show |
a0001a0003a0004 | a0001c0002a0003c0008a0004c0006 | a0001c0002t0001a0001c0002t0002a0003c0008t0002others(1): Show | a0001c0002t0001g0058a0001c0002t0002g0055a0001c0002t0002g0056others(3): Show | 6 | 67 | 0.0896 | -162 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114103555 | CCCACCCC others(155): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02738.hp2 HG03225.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0013others(4): Show | 7 | 67 | 0.1045 | -162 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RBBP6_chr16_24534566_24577863 | 24574282 | CCTCACTT others(155): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 NA18949.hp2 NA18962.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0076a0001c0001t0003g0098others(5): Show | 9 | 336 | 0.0268 | -162 | c.*18 others(11): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 1420 | chr16 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314295 | GTGGTGGA others(155): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0053 | 1 | 292 | 0.0034 | -162 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80314724 | ATGGAGGT others(155): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0268 | 1 | 292 | 0.0034 | -162 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744025 | TTACTAGC others(155): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0030 | a0001c0007t0030g0018a0001c0007t0030g0020 | 2 | 196 | 0.0102 | -162 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744127 | CCCTGGCT others(155): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0050 | a0001c0050t0007 | a0001c0050t0007g0148 | 1 | 196 | 0.0051 | -162 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SARDH_chr9_133658560_133743352 | 133668982 | CACCCTCC others(155): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 262 | 0.0038 | -162 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SBSN_chr19_35518367_35533311 | 35527329 | GCCCCCTG others(155): Show |
G | disruptive_inframe_deletion | MODERATE | HG02055.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0048 | 1 | 450 | 0.0022 | -162 | c.791 others(7): Show |
p.Val others(13): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 982/1946 | 791/1773 | 264/590 | chr19 | TogoVar | ||
SCNN1D_chr1_1275436_1297025 | 1289453 | CCGTGTCT others(155): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 290 | 0.0035 | -162 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43193593 | AGAGACAG others(155): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0054 | a0001c0054t0030 | a0001c0054t0030g0017 | 1 | 280 | 0.0036 | -162 | c.*10 others(13): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3686 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43280995 | CTGTCACC others(155): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 |
a0002a0004 | a0002c0002a0004c0028 | a0002c0002t0095a0004c0028t0087 | a0002c0002t0095g0278a0004c0028t0087g0273 | 2 | 280 | 0.0071 | -162 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281114 | TGTCACCT others(155): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0253 | 1 | 280 | 0.0036 | -162 | c.484 others(17): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339593 | TCCCCTAC others(155): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02717.hp2 others(4): Show |
a0001a0002a0005 | a0001c0004a0001c0006a0001c0010others(3): Show | a0001c0004t0016a0001c0006t0015a0001c0010t0033others(4): Show | a0001c0004t0016g0008a0001c0006t0015g0005a0001c0010t0033g0006others(4): Show | 7 | 280 | 0.0250 | -162 | c.89- others(13): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272527 | CTAAAGAC others(155): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0175a0001c0001t0001g0193a0001c0001t0001g0235others(60): Show | 63 | 376 | 0.1676 | -162 | c.331 others(17): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 431421 | TTAGAGGA others(155): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 212 | 0.0047 | -162 | c.111 others(17): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402446 | ACCCCGGC others(155): Show |
A | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 242 | 0.0041 | -162 | c.*32 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3269 | chr11 | TogoVar | ||||||
SLC25A5_chrX_119463444_119476396 | 119471624 | CTTCTCTA others(155): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 NA18978.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0002a0003c0005t0001g0008 | 3 | 324 | 0.0093 | -162 | c.*56 others(9): Show |
SLC25A5 | ENSG00000005022.6 | transcript | ENST00000317881.9 | protein_coding | 229 | chrX | TogoVar | ||||||
SSX1_chrX_48250392_48272444 | 48268165 | GGGTCTCA others(155): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(56): Show | 120 | 339 | 0.3540 | -162 | c.*13 others(11): Show |
SSX1 | ENSG00000126752.8 | transcript | ENST00000376919.4 | protein_coding | 722 | chrX | TogoVar | ||||||
SULT1C4_chr2_108372954_108393989 | 108378017 | GCTCACTT others(155): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02258.hp1 HG02559.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0007g0018a0001c0001t0007g0024a0001c0001t0007g0043others(7): Show | 14 | 326 | 0.0429 | -162 | c.-29 others(9): Show |
SULT1C4 | ENSG00000198075.10 | transcript | ENST00000272452.7 | protein_coding | 1/7 | 134 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
TAF13_chr1_109059140_109081003 | 109071957 | AATATATA others(155): Show |
A | intron_variant | MODIFIER | HG02080.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0252a0001c0001t0002g0253 | 2 | 414 | 0.0048 | -162 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
TAF13_chr1_109059140_109081003 | 109071959 | TATATATA others(155): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 414 | 0.0024 | -162 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
TBC1D14_chr4_6904826_7038114 | 7019725 | GCACAGAG others(155): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG03516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0003t0003 | a0001c0001t0003g0298a0001c0001t0009g0002a0001c0001t0009g0248others(4): Show | 7 | 304 | 0.0230 | -162 | c.175 others(19): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TIAM2_chr6_154990315_155262723 | 155027867 | CTATATAA others(155): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0004 | a0004c0056 | a0004c0056t0004 | a0004c0056t0004g0079 | 1 | 230 | 0.0044 | -162 | c.-20 others(21): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TMEM225B_chr7_99593267_99616045 | 99605389 | TCTGAGTA others(155): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(26): Show | 82 | 362 | 0.2265 | -162 | c.208 others(15): Show |
TMEM225B | ENSG00000244219.7 | transcript | ENST00000431679.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113807435 | CGTCACAC others(155): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0016 | a0001c0016t0042 | a0001c0016t0042g0235 | 1 | 260 | 0.0039 | -162 | c.813 others(17): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TRHDE_chr12_72267370_72675758 | 72583910 | AAAGGATG others(155): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0002g0153a0001c0001t0003g0076a0001c0001t0003g0078others(63): Show | 66 | 158 | 0.4177 | -162 | c.232 others(19): Show |
TRHDE | ENSG00000072657.10 | transcript | ENST00000261180.10 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TTBK2_chr15_42733730_42925778 | 42815923 | TATTTAAA others(155): Show |
T | intron_variant | MODIFIER | NA18941.hp2 NA18992.hp1 NA19072.hp1 |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0010 | a0003c0003t0004g0096a0003c0003t0004g0108a0003c0003t0010g0109 | 3 | 248 | 0.0121 | -162 | c.603 others(16): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 7/14 | chr15 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666933 | TGATGGAG others(155): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0108 | 1 | 482 | 0.0021 | -162 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
UBE2K_chr4_39693136_39787792 | 39705751 | CATCTCAG others(155): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0320others(67): Show | 70 | 336 | 0.2083 | -162 | c.63+ others(15): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167295475 | CCCTCGTG others(155): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 448 | 0.0022 | -162 | c.270 others(15): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZMYM2_chr13_19953727_20094115 | 20087969 | TTCCATCA others(155): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0029 | 1 | 286 | 0.0035 | -162 | c.*19 others(11): Show |
ZMYM2 | ENSG00000121741.17 | transcript | ENST00000610343.5 | protein_coding | 25/25 | 1957 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ZNF516_chr18_76352682_76500242 | 76467151 | CACAGCCC others(155): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0004others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(213): Show | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0001g0055others(306): Show | 309 | 346 | 0.8931 | -162 | c.-27 others(19): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1/6 | chr18 | TogoVar | ||||||
ZNF573_chr19_37733302_37784586 | 37751531 | CATATATA others(155): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 350 | 0.0029 | -162 | c.296 others(19): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587910 | TCCCCCCT others(154): Show |
T | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 151 | 0.0066 | -161 | c.-38 others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3693 | chrX | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107819 | AAGAAAGA others(154): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0380 | 1 | 422 | 0.0024 | -161 | c.168 others(17): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2128862 | GCCCCCGC others(154): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0233a0001c0004t0002g0234a0001c0004t0002g0239others(1): Show | 4 | 406 | 0.0099 | -161 | c.806 others(14): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
ARHGAP10_chr4_147727088_148077776 | 147783731 | TTATGTAT others(154): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG03225.hp1 |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0001 | a0001c0001t0001g0097a0001c0005t0001g0098a0002c0003t0001g0096 | 3 | 106 | 0.0283 | -161 | c.155 others(19): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176218698 | TATATATA others(154): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0048 | 1 | 410 | 0.0024 | -161 | c.671 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25826737 | CTCATATC others(154): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0020 | 1 | 122 | 0.0082 | -161 | c.268 others(19): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25826741 | TATCTCAT others(154): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 NA18522.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0046a0001c0001t0064a0001c0002t0005others(2): Show | a0001c0001t0046g0045a0001c0001t0064g0072a0001c0002t0005g0034others(2): Show | 5 | 122 | 0.0410 | -161 | c.268 others(19): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2105907 | GGGTTTCC others(154): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02040.hp2 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0011t0030others(1): Show | a0001c0001t0002g0096a0001c0002t0001g0016a0001c0002t0001g0017others(3): Show | 6 | 104 | 0.0577 | -161 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2106868 | GTTTCCAC others(154): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0034 | 1 | 104 | 0.0096 | -161 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922373 | CCTGGTCA others(154): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA19085.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0113a0001c0001t0001g0179 | 3 | 364 | 0.0082 | -161 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |