Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	336	0.0030	51	c.269 others(70): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312038	C C	CCCCTCAC others(44): Show CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0187 a0001c0002t0005g0187	1	336	0.0030	51	c.269 others(70): Show c.2699+1337_2699+1338insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(44): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	51	c.13 others(62): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0091 a0001c0001t0018g0091	1	260	0.0039	51	c.117 others(68): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATATATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	274	0.0037	51	c.-18 others(62): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD1LG2_chr9_5505531_5576282	5509030	G G	GACACAGT others(44): Show GACACAGTCCCAACTCTTGCCGTCTAGGCAGCCACTCCCATCTGTAGGTA GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	406	0.0025	51	c.-17 others(62): Show c.-1788_-1787insACACAGTCCCAACTCTTGCCGTCTAGGCAGCCAC TCCCATCTGTAGGTAGT	PDCD1LG2	ENSG00000197646.8	transcript	ENST00000397747.5	protein_coding		1500		chr9	TogoVar
PDE10A_chr6_165322289_165668241	165339906	G G	GTTACAGG others(44): Show GTTACAGGTAATAGTTACTAAAGATTCACTATGTTAGTTACTAAAGATTC AC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02630.hp2 HG02055.hp2 HG02559.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0029 a0001c0001 a0001c0003 a0002c0029	a0001c0001t0017 a0001c0003t0016 a0002c0029t0034 a0001c0001t0017 a0001c0003t0016 a0002c0029t0034	a0001c0001t0017g0056 a0001c0003t0016g0145 a0002c0029t0034g0219 a0001c0001t0017g0056 a0001c0003t0016g0145 a0002c0029t0034g0219	3	222	0.0135	51	c.289 others(68): Show c.2896-599_2896-549dupGTGAATCTTTAGTAACTAACATAGTGAA TCTTTAGTAACTATTACCTGTAA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	19/21			chr6	TogoVar
PDE3A_chr12_20363537_20693583	20385997	T T	TATATAAA others(44): Show TATATAAATATATATAAAATATATATATAAATATATATAAAATATATATA AA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0016 a0001c0001t0067g0016	1	198	0.0051	51	c.960 others(70): Show c.960+15758_960+15759insAATATATATAAAATATATATATAAAT ATATATAAAATATATATAAAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4DIP_chr1_148839428_149038016	148843629	T T	TTCTAAAA others(44): Show TTCTAAAAGATAAAAAAAATAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0014 a0002c0003t0015g0014	1	24	0.0417	51	c.-11 others(62): Show c.-1146_-1145insTCTAAAAGATAAAAAAAATAAAAAAAAAGAAAAA AAAAAAAAAAAAAAAAA	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding		798		chr1	TogoVar
PDE9A_chr21_42648621_42780509	42778581	G G	GCCCCGTC others(44): Show GCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCCAGC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	324	0.0031	51	c.32 others(62): Show c.3288_*3289insCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCCAGCCA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3073		chr21	TogoVar
PDIA2_chr16_278164_292215	285949	C C	CCCCGCGG others(44): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	436	0.0023	51	c.111 others(68): Show c.1119+249_1119+250insGCGGTTCTCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741322	C C	CTCAGGGG others(44): Show CTCAGGGGGCTCGCGGGGGGCTGGCGGGCTCGCGGGGGGCTCGCGGGGGG GT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0178 a0001c0001t0007g0178	1	358	0.0028	51	c.143 others(66): Show c.143-343_143-342insAGGGGGCTCGCGGGGGGCTGGCGGGCTCGC GGGGGGCTCGCGGGGGGGTTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743221	C C	CAGCACTG others(44): Show CAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCC CG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	358	0.0028	51	c.248 others(66): Show c.248-467_248-417dupCTCCCCCCAGCTCCCGAGCACTGTGGGGAC ACCTCGCCTGCACCCACCTCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743257	C C	CTCCCCCC others(44): Show CTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTC CT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19043.hp2 NA19062.hp2 others(1): Show NA18957.hp2 NA19043.hp2 NA19062.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0003 a0001c0002t0018 others(1): Show a0001c0001t0018 a0001c0002t0003 a0001c0002t0018 a0001c0002t0069	a0001c0001t0018g0110 a0001c0002t0003g0108 a0001c0002t0018g0111 others(1): Show a0001c0001t0018g0110 a0001c0002t0003g0108 a0001c0002t0018g0111 a0001c0002t0069g0172	4	358	0.0112	51	c.248 others(66): Show c.248-383_248-333dupTCGCCTGCACCCACCTCCTTCCCCCCAGCT CCCGAGCACTGTGGGGACACC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(44): Show TTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCG CC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG00673.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0161 a0001c0001t0002g0020 a0001c0001t0002g0161	2	358	0.0056	51	c.248 others(66): Show c.248-200_248-199insCGAGCACTGTGGGGACACCTCGCCTGCACC CACCTCCCTCCCCCCAGCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(44): Show TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(28): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0002t0063 a0001c0002t0064 a0001c0003t0038 a0001c0003t0039 a0001c0003t0102 a0002c0004t0017	a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0058 others(99): Show a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0228 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0002g0314 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0004g0009 a0001c0001t0004g0044 a0001c0001t0004g0113 a0001c0001t0004g0196 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0218 a0001c0001t0004g0234 a0001c0001t0004g0247 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0009g0034 a0001c0001t0009g0073 a0001c0001t0009g0230 a0001c0001t0009g0238 a0001c0001t0009g0243 a0001c0001t0009g0248 a0001c0001t0010g0005 a0001c0001t0010g0097 a0001c0001t0010g0140 a0001c0001t0010g0142 a0001c0001t0010g0158 a0001c0001t0011g0052 a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0001t0011g0079 a0001c0001t0022g0352 a0001c0001t0024g0156 a0001c0001t0025g0090 a0001c0001t0025g0091 a0001c0001t0026g0023 a0001c0001t0026g0195 a0001c0001t0036g0341 a0001c0001t0036g0342 a0001c0001t0040g0167 a0001c0001t0042g0334 a0001c0001t0043g0016 a0001c0001t0044g0206 a0001c0001t0045g0022 a0001c0001t0046g0027 a0001c0001t0047g0165 a0001c0001t0049g0149 a0001c0001t0050g0344 a0001c0001t0054g0045 a0001c0001t0056g0112 a0001c0001t0057g0331 a0001c0001t0058g0095 a0001c0001t0060g0092 a0001c0001t0061g0208 a0001c0002t0063g0162 a0001c0002t0064g0169 a0001c0003t0038g0335 a0001c0003t0039g0337 a0001c0003t0102g0012 a0002c0004t0017g0332 a0002c0004t0017g0333	102	358	0.2849	51	c.248 others(66): Show c.248-205_248-155dupAGCCCCTGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743519	A A	AGCCCCTG others(44): Show AGCCCCTGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCC CT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18965.hp1 HG01361.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0295 a0001c0001t0005g0026 a0001c0001t0001g0295 a0001c0001t0005g0026	2	358	0.0056	51	c.248 others(66): Show c.248-156_248-106dupCCTGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEBP4_chr8_22708251_22932914	22765793	C C	CATTCATG others(44): Show CATTCATGGATCACCACCTGTGGATCACCGCCATTCATGGATCACCACCA TT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	278	0.0036	51	c.358 others(70): Show c.358-38574_358-38573insAATGGTGGTGATCCATGAATGGCGGT GATCCACAGGTGGTGATCCATGAAT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEX5_chr12_7184686_7216459	7196951	T T	TTATATAT others(44): Show TTATATATGTCATATACAATGTAATCATATGTCATATACAATGTAATAAT TA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0310 a0002c0002t0005g0310	1	428	0.0023	51	c.449 others(68): Show c.449-2055_449-2054insATGTCATATACAATGTAATCATATGTCA TATACAATGTAATAATTATATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3095232	C C	CCGCGCAT others(44): Show CCGCGCATAGGTGAACTACGCGCATAGGTGAACTACGCGCATAGGTGAAC TA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0004 a0002c0013t0004	a0002c0013t0004g0026 a0002c0013t0004g0026	1	402	0.0025	51	c.187 others(68): Show c.187-4042_187-4041insGCGCATAGGTGAACTACGCGCATAGGTG AACTACGCGCATAGGTGAACTAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF20_chr20_35767015_35955370	35928297	G G	GGCATGGT others(44): Show GGCATGGTGACAGGCGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAG GA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03491.hp1 HG04199.hp1 HG02698.hp1 HG03491.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0076	3	206	0.0146	51	c.210 others(68): Show c.2104+420_2104+470dupCATGGTGACAGGCGCCTGTAACCCCAGC TACTTGGGAGGCTGAGGCAGGAG	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHKA1_chrX_72573814_72719306	72681846	T T	TGGGGGGG others(44): Show TGGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	237	0.0042	51	c.537 others(68): Show c.537+2651_537+2652insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCCGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72682076	T T	TGGGGGGG others(44): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	237	0.0042	51	c.537 others(68): Show c.537+2421_537+2422insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIAS4_chr19_4002736_4044386	4011892	G G	GGGGGTGT others(44): Show GGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02257.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02647.hp1 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0028 a0001c0006t0004g0029 a0001c0006t0004g0030 others(2): Show a0001c0006t0004g0028 a0001c0006t0004g0029 a0001c0006t0004g0030 a0001c0006t0004g0031 a0001c0006t0004g0032	5	334	0.0150	51	c.28- others(64): Show c.28-894_28-844dupGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229184609	G G	GTATATAT others(44): Show GTATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTATA TA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	256	0.0039	51	c.31- others(68): Show c.31-28646_31-28645insTATATACGGGATATATATATACGGGATA TATATATATACGGGATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184673	G G	GTATATAT others(44): Show GTATATATATCCCGTATATATATATATATCCCGTATATATATATCCCGTA TA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	256	0.0039	51	c.31- others(68): Show c.31-28710_31-28709insTATACGGGATATATATATACGGGATATA TATATATATACGGGATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(44): Show CATATATATATATAATGTGTGTATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03017.hp1 HG02129.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0005 a0002c0001t0001 a0002c0001t0005	a0002c0001t0001g0117 a0002c0001t0005g0008 a0002c0001t0001g0117 a0002c0001t0005g0008	2	158	0.0127	51	c.330 others(70): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATACACACATTATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGQ_chr16_564968_589109	584954	C C	CCCCCCAG others(44): Show CCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCCG CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0110 a0003c0003t0003g0110	1	408	0.0025	51	c.19 others(62): Show c.1919_*1920insCCCCCAGCTGCCCACCGGGTCCACCAACACCCCC AACCTGTGCCTCCCGCT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		846		chr16	TogoVar
PIGQ_chr16_564968_589109	585006	C C	CCCCCCAG others(44): Show CCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCTGTGCCTCCCG CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0105	1	408	0.0025	51	c.19 others(62): Show c.1971_*1972insCCCCCAGCTGCCCACCGGGTCCACCAACACCCCC AACCTGTGCCTCCCGCT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		898		chr16	TogoVar
PIK3C3_chr18_41950234_42092830	42032996	T T	TCAACTTC others(44): Show TCAACTTCCCAGTAGCATTGTAGTTGAAGTGTTTTATGCTGCTGGGATTG TC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19054.hp1 NA18981.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0177 a0001c0001t0001g0179	2	340	0.0059	51	c.170 others(68): Show c.1708-829_1708-779dupCAACTTCCCAGTAGCATTGTAGTTGAAG TGTTTTATGCTGCTGGGATTGTC	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIP5K1C_chr19_3625183_3705468	3649753	A A	ACCCGGCA others(44): Show ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC AC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0301 a0001c0002t0018g0301	1	332	0.0030	51	c.112 others(70): Show c.1128-1096_1128-1046dupGTGACAGTTAACTCCCGCGCTGGGCA GGGGACGTGTGGGCACGGTGCCGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIWIL2_chr8_22270316_22362568	22290974	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	296	0.0034	51	c.118 others(68): Show c.1181+629_1181+630insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKDCC_chr2_42043021_42063517	42047748	G G	GGGGACCG others(44): Show GGGGACCGCGGGCTGGGCGGGACCGCGGGCTGGGCGGGACCGCGGGCTGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0047 a0002c0007t0008g0047	1	432	0.0023	51	c.-45 others(60): Show c.-452_-451insGGGACCGCGGGCTGGGCGGGACCGCGGGCTGGGCGG GACCGCGGGCTGGGC	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		272		chr2	TogoVar
PLAAT3_chr11_63569462_63619433	63615017	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATGTATATATGTATATATAT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	352	0.0028	51	c.-68 others(60): Show c.-688_-687insACATATATATACATATATACATATATATATATATAT ATATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		585		chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906302	T T	TCCTCCTC others(44): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0178 a0001c0003t0009g0178	1	244	0.0041	51	c.222 others(70): Show c.222-35121_222-35120insGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906302	T T	TCCTCCTC others(44): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02922.hp1 HG03041.hp1 others(3): Show HG01106.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0018 a0001c0026	a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 a0001c0005t0001 a0001c0018t0006 a0001c0026t0006	a0001c0001t0004g0111 a0001c0001t0008g0025 a0001c0003t0001g0170 others(3): Show a0001c0001t0004g0111 a0001c0001t0008g0025 a0001c0003t0001g0170 a0001c0005t0001g0214 a0001c0018t0006g0219 a0001c0026t0006g0159	6	244	0.0246	51	c.222 others(70): Show c.222-35121_222-35120insGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	92413	T T	TGGGGTGG others(44): Show TGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGG TG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0065 a0004c0006t0065	a0004c0006t0065g0208 a0004c0006t0065g0208	1	210	0.0048	51	c.45+ others(64): Show c.45+151_45+152insGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGGTGGGGGCGCG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101344	A A	AAAAAGTC others(44): Show AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0077 a0001c0036t0077	a0001c0036t0077g0149 a0001c0036t0077g0149	1	210	0.0048	51	c.45+ others(66): Show c.45+9073_45+9074insTCTGTAGGGGAGACTGTTGTGAGGTAAATC CATATAAAGCCCTGGGAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(44): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	384	0.0026	51	c.212 others(70): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLPP2_chr19_276043_296403	291598	A A	AGGGGAGG others(44): Show AGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	354	0.0028	51	c.-26 others(60): Show c.-263_-262insCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCC CCGCCCCTCCTCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		196		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56538572	G G	GACATCTA others(44): Show GACATCTAAGGGAATGGGTACTGCTCTAAAAAGAATGCCCCACAAGTGTT AC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG02559.hp1 others(5): Show HG01167.hp2 HG01255.hp1 HG02559.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0228 a0001c0001t0003g0135 a0001c0001t0003g0225 others(5): Show a0001c0001t0002g0228 a0001c0001t0003g0135 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0004g0270 a0001c0001t0017g0267	8	336	0.0238	51	c.140 others(68): Show c.140-1511_140-1461dupGTAACACTTGTGGGGCATTCTTTTTAGA GCAGTACCCATTCCCTTAGATGT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(44): Show AAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01346.hp1 others(11): Show HG00408.hp1 HG00733.hp1 HG01346.hp1 HG01358.hp1 HG02258.hp1 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03516.hp1 NA18957.hp2 NA18964.hp2 NA18994.hp1 NA18994.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0003t0004 a0001c0003t0005	a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0058 others(11): Show a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0096 a0001c0001t0002g0050 a0001c0001t0002g0140 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0003g0060 a0001c0001t0004g0046 a0001c0001t0011g0005 a0001c0002t0001g0090 a0001c0003t0004g0092 a0001c0003t0005g0061	14	336	0.0417	51	c.140 others(70): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCTTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151396	G G	GAGGAGAA others(44): Show GAGGAGAAAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGGAGGAGGAGGAG GA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	88	0.0114	51	c.466 others(70): Show c.4661-2751_4661-2750insTCCTCCTCCTCCTCCTTCCTCCTCCT CCTCCTCCTCCTCCTCCTTTCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151577	A A	AAGGAGGA others(44): Show AAGGAGGAGGAGGAGAAAGGAGGAGGAGGAGAAAGGAGGAGGAGGAGAAA GG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0012 a0001c0020t0012 a0001c0002t0012 a0001c0020t0012	a0001c0002t0012g0068 a0001c0020t0012g0037 a0001c0002t0012g0068 a0001c0020t0012g0037	2	88	0.0227	51	c.466 others(70): Show c.4661-2932_4661-2931insCCTTTCTCCTCCTCCTCCTTTCTCCT CCTCCTCCTTTCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307782	G G	GGGGAGGG others(44): Show GGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAGGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0210 a0002c0005t0002g0210	1	302	0.0033	51	c.-30 others(60): Show c.-304_-303insTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCC TCCCCTCCCCCTCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		137		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307863	G G	GGGGGAGG others(44): Show GGGGGAGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGGAGGGGGGGGGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0237 a0002c0005t0002g0237	1	302	0.0033	51	c.-38 others(60): Show c.-385_-384insTCCCCCCCCCCCCTCCCCCCTCCCCCTCCCCCCCCC TCCCCCTCCCTCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		218		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(44): Show GGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	51	c.-45 others(62): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACCGCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PODXL2_chr3_127624185_127677802	127663269	T T	TGGGGGGG others(44): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	402	0.0025	51	c.120 others(68): Show c.1206+962_1206+963insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGG	PODXL2	ENSG00000114631.11	transcript	ENST00000342480.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
POMT1_chr9_131497918_131528799	131516262	A A	ACACTTCC others(44): Show ACACTTCCTCACACGGAACACCTCCTCACACAGAACACTTCCTCACACGG AG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	334	0.0030	51	c.127 others(68): Show c.1272+770_1272+771insAGAACACTTCCTCACACGGAGCACTTCC TCACACGGAACACCTCCTCACAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516296	A A	ACACTTCC others(44): Show ACACTTCCTCACACGGAGCACTTCCTCACACGGAACACCTCCTCACACGG AG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(216): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0008 a0010	a0001c0001 a0001c0004 a0001c0013 others(6): Show a0001c0001 a0001c0004 a0001c0013 a0001c0014 a0004c0008 a0005c0020 a0006c0011 a0008c0012 a0010c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0004t0001 a0001c0013t0001 a0001c0014t0001 a0004c0008t0001 a0005c0020t0001 a0006c0011t0001 a0008c0012t0001 a0010c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(123): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0008g0041 a0001c0001t0009g0131 a0001c0001t0011g0139 a0001c0001t0015g0024 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0014 a0001c0004t0001g0079 a0001c0013t0001g0003 a0001c0014t0001g0030 a0004c0008t0001g0002 a0004c0008t0001g0003 a0005c0020t0001g0067 a0006c0011t0001g0132 a0008c0012t0001g0101 a0010c0017t0001g0123	219	334	0.6557	51	c.127 others(68): Show c.1272+801_1272+851dupACACGGAACACCTCCTCACACGGAGCAC TTCCTCACACGGAGCACTTCCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar

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