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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NGB_chr14_77260483_77276206 | 77269727 | T | TCTCTCTC others(18): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 366 | 0.0027 | 25 | c.90- others(38): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232969472 | T | TCCTTCCT others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02293.hp1 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0002g0336a0001c0001t0006g0277a0001c0001t0007g0320others(8): Show | 11 | 362 | 0.0304 | 25 | c.383 others(40): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995140 | A | ATGTATAC others(18): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0298 | 1 | 362 | 0.0028 | 25 | c.-75 others(44): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGF_chr1_115280917_115343249 | 115337267 | G | GTTTGTTT others(18): Show |
intron_variant | MODIFIER | HG02895.hp2 NA18956.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136 | 3 | 418 | 0.0072 | 25 | c.-13 others(42): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
NGF_chr1_115280917_115343249 | 115337267 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 418 | 0.0024 | 25 | c.-13 others(42): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
NHSL2_chrX_71905845_72158286 | 72039067 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01169.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(7): Show | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0014g0125others(10): Show | 13 | 187 | 0.0695 | 25 | c.281 others(44): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NHS_chrX_17370200_17740994 | 17521366 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 164 | 0.0061 | 25 | c.565 others(46): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NIBAN1_chr1_184786032_184979508 | 184955307 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01069.hp1 others(40): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0023a0001c0001t0001g0042a0001c0001t0001g0136others(39): Show | 43 | 256 | 0.1680 | 25 | c.55+ others(42): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
NIM1K_chr5_43187225_43285850 | 43213284 | C | CCTTTTCT others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0125 | 1 | 292 | 0.0034 | 25 | c.-69 others(46): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NINJ2_chr12_559296_668445 | 618241 | G | GGAGGTGG others(18): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0314 | 2 | 404 | 0.0050 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334a0001c0001t0001g0335 | 2 | 404 | 0.0050 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 HG04184.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207a0001c0001t0001g0324a0001c0001t0001g0349others(2): Show | 5 | 404 | 0.0124 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02300.hp2 HG03831.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0166a0001c0001t0001g0188a0001c0001t0001g0196others(6): Show | 9 | 404 | 0.0223 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02698.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0061a0001c0001t0001g0169others(1): Show | 4 | 404 | 0.0099 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 404 | 0.0025 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0218 | 2 | 404 | 0.0050 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 404 | 0.0025 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 634265 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02738.hp1 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0039others(5): Show | 8 | 404 | 0.0198 | 25 | c.33+ others(42): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25561038 | C | CTCTCCCT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03041.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0235a0002c0011t0002g0236a0002c0011t0002g0237others(1): Show | 4 | 310 | 0.0129 | 25 | c.-12 others(44): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25561055 | T | TTTCCACG others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01255.hp2 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0012t0001a0001c0012t0010others(10): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0012t0001g0222others(51): Show | 54 | 310 | 0.1742 | 25 | c.-12 others(44): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
NIPA1_chr15_22781644_22834789 | 22788919 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0048a0002c0004t0006 | a0002c0003t0048g0098a0002c0004t0006g0097 | 2 | 400 | 0.0050 | 25 | c.178 others(42): Show |
NIPA1 | ENSG00000170113.16 | transcript | ENST00000337435.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NISCH_chr3_52450604_52498068 | 52479656 | C | CTCACCAG others(18): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 308 | 0.0033 | 25 | c.130 others(40): Show |
NISCH | ENSG00000010322.16 | transcript | ENST00000345716.9 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NKAIN1_chr1_31174745_31244887 | 31218071 | T | TCTTTCTT others(18): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 338 | 0.0030 | 25 | c.54+ others(42): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62454301 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092a0001c0002t0001g0095 | 2 | 144 | 0.0139 | 25 | c.55- others(44): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NKAIN3_chr8_62243854_62989904 | 62581110 | T | TATAAAAT others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG02257.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0031a0001c0001t0102a0001c0002t0021others(1): Show | a0001c0001t0031g0059a0001c0001t0102g0141a0001c0002t0021g0086others(1): Show | 4 | 144 | 0.0278 | 25 | c.192 others(42): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NKAIN3_chr8_62243854_62989904 | 62729043 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0050 | a0001c0001t0004g0042a0001c0001t0004g0064a0001c0001t0050g0062 | 3 | 144 | 0.0208 | 25 | c.274 others(44): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NKAIN3_chr8_62243854_62989904 | 62859508 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01361.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0015a0001c0001t0017a0001c0001t0056others(7): Show | a0001c0001t0015g0036a0001c0001t0017g0057a0001c0001t0056g0054others(10): Show | 13 | 144 | 0.0903 | 25 | c.472 others(44): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NKAP_chrX_119915672_119948751 | 119934430 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 320 | 0.0031 | 25 | c.737 others(38): Show |
NKAP | ENSG00000101882.10 | transcript | ENST00000371410.5 | protein_coding | 5/8 | chrX | TogoVar | ||||||
NKD1_chr16_50543396_50654249 | 50589694 | T | TTTCTCTT others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 212 | 0.0047 | 25 | c.193 others(44): Show |
NKD1 | ENSG00000140807.7 | transcript | ENST00000268459.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NKD1_chr16_50543396_50654249 | 50589761 | T | TCTCTCCT others(18): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0045 | a0001c0001t0004g0196a0001c0001t0045g0192 | 2 | 212 | 0.0094 | 25 | c.193 others(44): Show |
NKD1 | ENSG00000140807.7 | transcript | ENST00000268459.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NKTR_chr3_42595686_42653735 | 42647301 | T | TGTGTGTG others(18): Show |
3_prime_UTR_variant | MODIFIER | NA18965.hp1 NA19011.hp1 |
a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0015a0002c0003t0033g0071 | 2 | 352 | 0.0057 | 25 | c.*13 others(36): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 17/17 | 1328 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
NLGN1_chr3_173392744_174299372 | 173539654 | T | TATATGTA others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0041 | 1 | 44 | 0.0227 | 25 | c.-32 others(46): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLGN1_chr3_173392744_174299372 | 173539795 | T | TAACACAC others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 44 | 0.0227 | 25 | c.-32 others(46): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLGN1_chr3_173392744_174299372 | 173600592 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 44 | 0.0227 | 25 | c.-32 others(44): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLGN1_chr3_173392744_174299372 | 173753944 | A | AATAATAT others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0038a0001c0002t0011 | a0001c0001t0038g0019a0001c0002t0011g0014 | 2 | 44 | 0.0455 | 25 | c.554 others(44): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLGN1_chr3_173392744_174299372 | 173818895 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0028 | a0001c0001t0018g0004a0001c0001t0028g0029 | 2 | 44 | 0.0455 | 25 | c.706 others(44): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NLGN4X_chrX_5885042_6233867 | 6030392 | A | ATTGTGTG others(18): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19011.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0099a0001c0001t0001g0105a0001c0001t0005g0044 | 3 | 128 | 0.0234 | 25 | c.473 others(40): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6049227 | A | AAGGGGAG others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0068a0001c0001t0004g0005a0001c0001t0004g0007others(2): Show | 5 | 128 | 0.0391 | 25 | c.473 others(44): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | ||||||
NLRC4_chr2_32219453_32269886 | 32259262 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0234a0001c0001t0001g0314 | 3 | 394 | 0.0076 | 25 | c.-11 others(44): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
NLRC4_chr2_32219453_32269886 | 32261315 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163a0001c0003t0001g0164a0001c0003t0001g0165others(1): Show | 4 | 394 | 0.0102 | 25 | c.-11 others(44): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
NLRC4_chr2_32219453_32269886 | 32261316 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18951.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315a0001c0001t0001g0316a0001c0001t0001g0317others(1): Show | 4 | 394 | 0.0102 | 25 | c.-11 others(44): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
NLRP12_chr19_53788741_53829314 | 53796960 | C | CCAGGGTG others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0151 | 1 | 416 | 0.0024 | 25 | c.292 others(42): Show |
NLRP12 | ENSG00000142405.23 | transcript | ENST00000324134.11 | protein_coding | 8/9 | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54976810 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0320 | 1 | 429 | 0.0023 | 25 | c.326 others(40): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP2_chr19_54961374_55006138 | 54984329 | G | GTGTGTTT others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0014 | a0004c0014t0005 | a0004c0014t0005g0102 | 1 | 429 | 0.0023 | 25 | c.203 others(42): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP2_chr19_54961374_55006138 | 54984485 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0010a0001c0013others(1): Show | a0001c0002t0001a0001c0010t0001a0001c0010t0008others(3): Show | a0001c0002t0001g0328a0001c0002t0001g0330a0001c0010t0001g0189others(5): Show | 8 | 429 | 0.0187 | 25 | c.203 others(42): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP4_chr19_55831540_55886855 | 55837607 | A | AACACACA others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0235 | 1 | 424 | 0.0024 | 25 | c.-66 others(40): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP5_chr19_55994726_56066810 | 56010742 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0009a0001c0015others(11): Show | a0001c0003t0001a0001c0009t0001a0001c0015t0001others(11): Show | a0001c0003t0001g0011a0001c0009t0001g0332a0001c0009t0001g0333others(13): Show | 16 | 396 | 0.0404 | 25 | c.508 others(42): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP5_chr19_55994726_56066810 | 56010742 | C | CCAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG02886.hp1 |
a0001a0004 | a0001c0023a0004c0035 | a0001c0023t0001a0004c0035t0001 | a0001c0023t0001g0314a0004c0035t0001g0094a0004c0035t0001g0095 | 3 | 396 | 0.0076 | 25 | c.508 others(42): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56013596 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03516.hp2 others(3): Show |
a0004a0006a0007others(2): Show | a0004c0050a0004c0053a0006c0005others(3): Show | a0004c0050t0001a0004c0053t0003a0006c0005t0002others(3): Show | a0004c0050t0001g0329a0004c0053t0003g0317a0006c0005t0002g0284others(3): Show | 6 | 396 | 0.0152 | 25 | c.509 others(42): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NLRP5_chr19_55994726_56066810 | 56030714 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0309 | 1 | 396 | 0.0025 | 25 | c.227 others(44): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |