Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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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
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(165): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	172	c.-26 others(183): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(165): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	172	c.-26 others(183): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	745158	C C	CCGGGGTC others(165): Show CCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0132 a0001c0003t0005g0132	1	366	0.0027	172	c.462 others(187): Show c.462+470_462+471insCGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PCSK6_chr15_101298933_101494707	101459446	T T	TCACCCAC others(165): Show TCACCCACTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCCG CTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCAC CATTCCCATCCTCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCC GTCCCCCCACCCTAAGTCCACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01069.hp1 others(16): Show HG00323.hp1 HG00544.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp1 NA18975.hp1 NA19005.hp2 NA19079.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0005c0026	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0002 a0001c0010t0002 a0005c0026t0015	a0001c0001t0001g0173 a0001c0001t0001g0231 a0001c0002t0001g0151 others(16): Show a0001c0001t0001g0173 a0001c0001t0001g0231 a0001c0002t0001g0151 a0001c0003t0001g0048 a0001c0003t0001g0084 a0001c0003t0001g0099 a0001c0003t0001g0109 a0001c0003t0002g0075 a0001c0003t0002g0086 a0001c0004t0001g0098 a0001c0004t0001g0100 a0001c0004t0002g0046 a0001c0004t0006g0076 a0001c0005t0003g0216 a0001c0005t0004g0219 a0001c0007t0001g0137 a0001c0007t0002g0107 a0001c0010t0002g0190 a0005c0026t0015g0332	19	336	0.0566	172	c.298 others(191): Show c.298-15787_298-15786insGTGTGGACTTAGGGTGGGGGGACGGG AACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGAGGATGGGAATGGTG GCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGCGG GTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGTGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459446	T T	TCACCCAC others(165): Show TCACCCACTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCCG CTGCCACCGTTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCAC CATTCCCATCCTCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCC GTCCCCCCACCCTAAGTCCACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	336	0.0030	172	c.298 others(191): Show c.298-15787_298-15786insGTGTGGACTTAGGGTGGGGGGACGGG AACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGAGGATGGGAATGGTG GCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTGGCAGCGG GTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGTGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459446	T T	TCACCCAC others(165): Show TCACCCACTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCTG CTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCAGCTGCCAC CGTTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCC GTCCCCCCACCCTAAGTCCACAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	336	0.0030	172	c.298 others(191): Show c.298-15787_298-15786insGTGTGGACTTAGGGTGGGGGGACGGG AACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTG GCAGCTGGTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGCAG GTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGTGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459451	T T	TGCTGCCA others(165): Show TGCTGCCACCGTTCCCGTCCCCCCACCCTAAGTCCACACCACCTGCTGCC ACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCAGCTGCCACCGTTC CCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCCGTCCC CCCACCCTAAGTCCACACCACCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(58): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18945.hp1 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18970.hp2 NA18986.hp1 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0008 a0011 a0013 a0016 a0020	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0056 a0001c0057 a0001c0059 a0001c0061 a0002c0018 a0003c0015 a0003c0024 a0005c0026 a0006c0020 a0006c0021 a0006c0030 a0008c0022 a0011c0044 a0013c0043 a0016c0052 a0020c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0002 a0001c0011t0001 a0001c0013t0001 a0001c0056t0001 a0001c0057t0004 a0001c0059t0001 a0001c0061t0001 a0002c0018t0013 a0003c0015t0001 a0003c0024t0004 a0005c0026t0001 a0006c0020t0001 a0006c0021t0001 a0006c0021t0002 a0006c0030t0001 a0008c0022t0001 a0011c0044t0001 a0013c0043t0009 a0016c0052t0001 a0020c0073t0001	a0001c0001t0001g0236 a0001c0001t0002g0147 a0001c0001t0002g0162 others(58): Show a0001c0001t0001g0236 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0201 a0001c0001t0002g0271 a0001c0001t0002g0296 a0001c0001t0007g0168 a0001c0001t0009g0295 a0001c0001t0010g0294 a0001c0002t0001g0146 a0001c0002t0001g0161 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0203 a0001c0002t0001g0253 a0001c0002t0002g0150 a0001c0002t0002g0235 a0001c0002t0002g0239 a0001c0002t0004g0240 a0001c0003t0001g0127 a0001c0003t0002g0040 a0001c0003t0003g0113 a0001c0004t0001g0043 a0001c0004t0001g0053 a0001c0004t0001g0081 a0001c0004t0001g0130 a0001c0004t0003g0038 a0001c0004t0004g0042 a0001c0004t0008g0045 a0001c0005t0001g0191 a0001c0005t0001g0204 a0001c0005t0003g0254 a0001c0006t0001g0037 a0001c0006t0001g0115 a0001c0006t0001g0129 a0001c0006t0002g0039 a0001c0007t0001g0041 a0001c0009t0002g0238 a0001c0011t0001g0198 a0001c0011t0001g0199 a0001c0011t0001g0202 a0001c0011t0001g0218 a0001c0013t0001g0034 a0001c0013t0001g0080 a0001c0056t0001g0298 a0001c0057t0004g0222 a0001c0059t0001g0308 a0001c0061t0001g0309 a0002c0018t0013g0031 a0003c0015t0001g0313 a0003c0024t0004g0315 a0005c0026t0001g0331 a0006c0020t0001g0005 a0006c0021t0001g0004 a0006c0021t0002g0002 a0006c0030t0001g0003 a0008c0022t0001g0211 a0011c0044t0001g0117 a0013c0043t0009g0036 a0016c0052t0001g0164 a0020c0073t0001g0336	61	336	0.1816	172	c.298 others(191): Show c.298-15792_298-15791insGGGTGGTGTGGACTTAGGGTGGGGGG ACGGGAACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAA CGGTGGCAGCTGGTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGC AGCAGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTGGCAGC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459451	T T	TGCTGCCA others(165): Show TGCTGCCACCGTTCCCGTCCCCCCACCCTAAGTCCACACCACCTGCTGCC ACCGTTCCCGTCCCCCCACCCTAAGTCCACACCACCAGCTGCCACCGTTC CCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCCGTCCC CCCACCCTAAGTCCACACCACCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0071 a0005c0071	a0005c0071t0001 a0005c0071t0001	a0005c0071t0001g0329 a0005c0071t0001g0329	1	336	0.0030	172	c.298 others(191): Show c.298-15792_298-15791insGGGTGGTGTGGACTTAGGGTGGGGGG ACGGGAACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAA CGGTGGCAGCTGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTGGC AGCAGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTGGCAGC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459547	A A	ATTCCCGT others(165): Show ATTCCCGTCCCCCCACCCTAAGTCCACACCACCAGCTGCCACCGTTCCCG TCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCCGTCCCCCC ACCCTAAGTCCACACCACCCGCTGCCACCATTCCCGTCCCCCCACCCTAA GTCCACACCACCCGCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	336	0.0030	172	c.298 others(191): Show c.298-15888_298-15887insCGGTGGCAGCGGGTGGTGTGGACTTA GGGTGGGGGGACGGGAATGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGG GGGACGGGAACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGG GAACGGTGGCAGCTGGTGGTGTGGACTTAGGGTGGGGGGACGGGAA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741430	C C	CGGGGGGC others(165): Show CGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0004 a0001c0003t0008g0004	1	358	0.0028	172	c.143 others(187): Show c.143-226_143-225insAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(165): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	410	0.0024	172	c.980 others(187): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKP_chr10_3062548_3141802	3085757	C C	CAGCACAG others(165): Show CAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTC CAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTC CAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCCA GCACAGTCCTCCACCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02738.hp2 others(2): Show HG01168.hp1 HG01169.hp2 HG02738.hp2 HG03704.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0012 a0001c0001 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0007t0017 a0001c0012t0003 others(1): Show a0001c0001t0002 a0001c0007t0017 a0001c0012t0003 a0001c0012t0004	a0001c0001t0002g0251 a0001c0007t0017g0160 a0001c0012t0003g0243 others(2): Show a0001c0001t0002g0251 a0001c0007t0017g0160 a0001c0012t0003g0243 a0001c0012t0003g0247 a0001c0012t0004g0242	5	402	0.0124	172	c.186 others(189): Show c.186+3306_186+3307insCCCACTCCACTCTCCAGCACAGTCCCCC ACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCC ACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCC ACTCCACTCCAGCACAGTCCTCCACCCCCTCCCTAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(165): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	342	0.0029	172	c.-66 others(191): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(165): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACGTGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT ATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGAT GCATGTAGATACATGTATACATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0253 a0001c0001t0119g0253	1	308	0.0033	172	c.335 others(191): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACGTGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATACATG TATACATATATACATGTAGATGCATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100315007	G G	GGAAGGGA others(165): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	306	0.0033	172	c.349 others(191): Show c.349+14203_349+14204insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(165): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCTCCCTCT CCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0045 a0004c0008t0004g0045	1	134	0.0075	172	c.575 others(193): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGA GAGGGAGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(165): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0045 a0045	a0045c0084 a0045c0084	a0045c0084t0006 a0045c0084t0006	a0045c0084t0006g0087 a0045c0084t0006g0087	1	134	0.0075	172	c.575 others(193): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(165): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0041 a0004c0015t0001g0041	1	216	0.0046	172	c.106 others(189): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PLD5_chr1_242077986_242529697	242394424	G G	GAACATAT others(165): Show GAACATATATATGTGTATATATGTGAACATATATATGTGTATATATGTGA ACATATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAAC ATATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACAT ATATATGTGTATATATGTGAACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	188	0.0053	172	c.190 others(191): Show c.190-46183_190-46182insTGTTCACATATATACACATATATATG TTCACATATATACACATATATATGTTCACATATATACACATATATATGTT CACATATATACACATATATATGTTCACATATATACACATATATATGTTCA CATATATACACATATATATGTTCACATATATACACATATATATGTT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(165): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGGTAGGGGCGGGGTGG GGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGG GGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0143	1	210	0.0048	172	c.45+ others(183): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGG TAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAG TAGGGGCGGGTGGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCACACTA others(165): Show TCACACTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTGTGACGGGG CGGAGCTCACACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTG TGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTA CTCCTCTGACGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	210	0.0048	172	c.347 others(191): Show c.3476+1717_3476+1718insACTAATGCTCTGACAGGGCGGAGCTC ACACTAATGCTGTGACGGGGCGGAGCTCACACAGTAATCCTCTGACGGGG CGGAGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165568	T T	TCACACAC others(165): Show TCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGATGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0143 a0001c0007t0008g0145	2	210	0.0095	172	c.347 others(191): Show c.3476+2024_3476+2025insCACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165702	C C	CGGAGCTC others(165): Show CGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTC TGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTA ATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGC TCACAGTAATGCTCTGACGGGGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0133 a0012c0013t0133	a0012c0013t0133g0118 a0012c0013t0133g0118	1	210	0.0048	172	c.347 others(191): Show c.3476+2172_3476+2173insGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGC GGGGCTCACAGTAATGCTCTGACGGGGTGGAGCTCACACTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165876	T T	TCACACAC others(165): Show TCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGATGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0146 a0001c0007t0008g0146	1	210	0.0048	172	c.347 others(191): Show c.3476+2333_3476+2334insACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165929	G G	GGCTCACA others(165): Show GGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGT GACGGGGCAGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTACTCCTCTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0044 a0001c0001t0113g0044	1	210	0.0048	172	c.347 others(191): Show c.3476+2388_3476+2389insCTAATGCTGTGACAGGGGTCGGAGCT CACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166433	A A	AGCTCACA others(165): Show AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACA GGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAA TGCTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCA CAGTACTCCTCTGACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0133 a0012c0013t0133	a0012c0013t0133g0118 a0012c0013t0133g0118	1	210	0.0048	172	c.347 others(191): Show c.3477-2880_3477-2879insGGCTCACACTAATGCTGTGACAGGGG TCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCT CTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCACAGT ACTCCTCTGACGGGGCGGCGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R2D_chr10_131896008_131964834	131917117	C C	CAGGGACC others(165): Show CAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGT GGAATGACACAGCGTTTGTAGGGACCTCAGGTGGGTGGAATGACACAGTG TAGGGACCTCAGGCGGGTGGAATGACACAGCGTTTGTAGGGACCTCAGGC GGGTGGAATGACACAGCGTTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0274 a0001c0001t0030g0274	1	394	0.0025	172	c.100 others(191): Show c.100+15916_100+15917insCGTTTGTAGGGACCTCAGGCGGGTGG AATGACACAGCGTTTGTAGGGACCTCACGTGGGTGGAATGACACAGTGTA GGGACCTCAGGCGGGTGGAATGACACAGCGTTTGTAGGGACCTCAGGTGG GTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRIMPOL_chr4_184644738_184699952	184676459	C C	CCTTCCTC others(165): Show CCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTT CCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTC CCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTT CTCCCTTCCCTTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp2 HG03098.hp1 HG00438.hp2 HG02132.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0002g0254 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0002g0254	3	328	0.0092	172	c.845 others(189): Show c.845-1773_845-1772insCTTCCTCTCTCCTTCCCCCTTCCCTTCC CCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCT TCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCC TCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTT	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TTATATAT others(165): Show TTATATATATTATATAATATATATTATTATATATTATATAATATATTTAT TATATATATTATATAATATATATATTATATATATTATATAATATATATTA TTATATATATTATATAATATATATTATTATATATATTATATAATATATTA TTATTATATAATAAATATTATTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	228	0.0044	172	c.248 others(191): Show c.2481+6050_2481+6051insTAATAATATTTATTATATAATAATAA TATATTATATAATATATATAATAATATATATTATATAATATATATAATAA TATATATTATATAATATATATAATATATATATTATATAATATATATAATA AATATATTATATAATATATAATAATATATATTATATAATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132419538	A A	AGGAAGTC others(165): Show AGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGA GGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGGC CTGGAGGAGGGGTCTCCTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0116 a0001c0009t0001g0116	1	374	0.0027	172	c.24 others(183): Show c.2494_*2495insGGAAGTCTGGAGGAGGGGGTCTCCTGGGGGGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCT CCTGGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1680		chr10	TogoVar
PWWP3A_chr19_1349959_1383429	1368821	A A	ATGCGTTC others(165): Show ATGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTT CAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGATCA GCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAG CCATCGGGTCCCCGGTGCCCACC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	412	0.0024	172	c.142 others(189): Show c.1423-422_1423-421insATCGGGTCCCCGGTGCCCACCTGCGTTC AGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGATCAG CCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGC CATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCC	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368821	A A	ATGCGTTC others(165): Show ATGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTT CAGATCAGCCCAAGCCATCAGGTCCCCGGTGCCCACCTGCGTTCAGATCA GCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAG CCATCGGGTCCCCGGTGCCCACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01074.hp2 others(32): Show HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01891.hp2 HG02145.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18984.hp2 NA19084.hp2 NA19240.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0011 a0002c0003 others(2): Show a0001c0001 a0001c0011 a0002c0003 a0002c0004 a0006c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0011t0004 a0002c0003t0007 a0002c0004t0013 a0002c0004t0027 a0006c0017t0004	a0001c0001t0001g0005 a0001c0001t0001g0233 a0001c0001t0001g0258 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0278 a0001c0001t0004g0005 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0277 a0001c0001t0004g0295 a0001c0001t0007g0154 a0001c0011t0004g0261 a0001c0011t0004g0262 a0002c0003t0007g0101 a0002c0004t0013g0016 a0002c0004t0027g0016 a0006c0017t0004g0266	35	412	0.0850	172	c.142 others(189): Show c.1423-422_1423-421insATCGGGTCCCCGGTGCCCACCTGCGTTC AGATCAGCCCAAGCCATCAGGTCCCCGGTGCCCACCTGCGTTCAGATCAG CCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGC CATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCC	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368887	A A	ATCAGGTC others(165): Show ATCAGGTCCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGT CCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGT GCCCACCTGCGTTCAGACCAGCCCAAGCCATCAGGTCCCCGGTGCCCACC TGCGTTCAGATCAGCCCAAGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0159 a0002c0003t0007g0159	1	412	0.0024	172	c.142 others(189): Show c.1423-376_1423-375insAGGTCCCCGGTGCCCACCTGCGTTCAGA TCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCC AAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCAT CAGGTCCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCTTC	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368887	A A	ATCGGGTC others(165): Show ATCGGGTCCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCAGGT CCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGT GCCCACCTGCGTTCAGATCAGCCCAAGCCATCAGGTCCCCGGTGCCCACC TGCGTTCAGATCAGCCCAAGCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	412	0.0024	172	c.142 others(189): Show c.1423-348_1423-347insTCAGCCCAAGCCATCAGGTCCCCGGTGC CCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGATCAGCCCAAGCCATCAGGTCCCCGGTGCCCACCTGCGTTCAG ATCAGCCCAAGCCTTCGGGTCCCCGGTGCCCACCTGCGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDN_chr2_1626887_1749515	1720019	G G	GAGAGAGG others(165): Show GAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGA GAGAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0289 a0001c0002t0032g0289	1	322	0.0031	172	c.200 others(191): Show c.200+24236_200+24237insGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCT CTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
QPCT_chr2_37339630_37378322	37347226	T T	TAACATAT others(165): Show TAACATATATATAACATATATATATAACATATATATATAACATATATATA ACATATATATATAACATATATATAACATATATATATAACATATATATATA ACATATATATAACATATATATATAACATATATATATAACATATATATATA TATATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	442	0.0023	172	c.120 others(189): Show c.120+2376_120+2377insACATATATATAACATATATATATAACAT ATATATATAACATATATATAACATATATATATAACATATATATAACATAT ATATATAACATATATATATAACATATATATAACATATATATATAACATAT ATATATAACATATATATATATATATATAACATATATATATAACA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(165): Show TATGCGTATATATACGTATATACACATATGTGTGTGTATATACGGATATA CACACACATATGTGTGTATATATCCGTATATATACACATATGTGTGTATA TACGTATATACACACATATGTGTGTGTATATACGGATATACACATATATG TGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(19): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02717.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp2 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18975.hp2 NA18982.hp2 NA19004.hp2 NA19076.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 others(19): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0146 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0281	22	320	0.0688	172	c.468 others(189): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACATATGTGTGTGTATAT CCGTATATACACACACATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209869	T T	TATGCGTA others(165): Show TATGCGTATATATACGTATATACACATATGTGTGTGTATATACGGATATA CACACACATGTGTGTGTATATATCCGTATATATACACATATGTGTGTATA TACGTATATACACACATATGTGTGTGTATATACGGATATACACATATATG TGTGTATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	320	0.0031	172	c.468 others(189): Show c.468-4165_468-4164insGTGTATATACGTATATATACACACATAT ATGTGTATATCCGTATATACACACACATATGTGTGTATATACGTATATAC ACACATATGTGTATATATACGGATATATACACACACATGTGTGTGTATAT CCGTATATACACACACATATGTGTATATACGTATATATACGCAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(165): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATACGTA TATATACACACATATGTGTGTATATACGTATATATACACACATATGTGTG TATATACGTATATATACACACATATGTGTGTGTATATACGTATATACACA CATATGTGTATATACGTATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02486.hp2 others(5): Show HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp2 HG02922.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 others(5): Show a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0012g0300 a0001c0001t0012g0302 a0001c0001t0012g0308	8	320	0.0250	172	c.468 others(189): Show c.468-4219_468-4218insATATATACGTATATACACATATGTGTGT ATATACGTATATACACACACATATGTGTGTATATATACGTATATACACAC ATATGTGTGTATATATACGTATATACACACATATGTGTGTATATATACGT ATATACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB3C_chr5_58578075_58864394	58597120	C C	CATAATAT others(165): Show CATAATATATATTATATAATAATATATAATACATTATATATATTATATAA TATATATAATACATTATATATATTATATAATATATATAATACATTATATA TTATATAATATATAATACATTATATATTATATAATATAGATAATACATTA TCTATATTATATAATAATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG01255.hp2 others(8): Show HG01070.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0079	a0001c0001t0002g0182 a0001c0001t0004g0175 a0001c0001t0004g0183 others(8): Show a0001c0001t0002g0182 a0001c0001t0004g0175 a0001c0001t0004g0183 a0001c0001t0004g0214 a0001c0001t0007g0176 a0001c0001t0008g0177 a0001c0001t0012g0181 a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0024g0174 a0001c0001t0079g0180	11	220	0.0500	172	c.24+ others(189): Show c.24+13898_24+13899insTTATATAATAATATATAATACATTATAT ATATTATATAATATATATAATACATTATATATATTATATAATATATATAA TACATTATATATTATATAATATATAATACATTATATATTATATAATATAG ATAATACATTATCTATATTATATAATAATATATAATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40B_chr17_82649973_82703698	82691993	A A	AGCAGAGC others(165): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAG CAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGG GCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCA CGGTCCGTGGGCTGAGGTGACAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	338	0.0030	172	c.142 others(189): Show c.142+6290_142+6461dupCTGTCACCTCAGCCCACGGACCGTGCGG GCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCAC TGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTG CCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTGC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAD17_chr5_69364818_69419801	69377645	A A	ATGCATAT others(165): Show ATGCATATATATGTATACATATATATGCATATATATGTATACATATATAT GCATATATATATGCATACATATATATGCATACATATATGCATGCATATAT ATATGCATACATATATGCATGCATATATATATGCATACATATATGCATGC ATATATATATGTATACATATATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18955.hp1 NA19002.hp1 HG03927.hp2 NA18955.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0127 a0001c0001t0001g0171 a0002c0002t0001g0216 a0001c0001t0001g0127 a0001c0001t0001g0171 a0002c0002t0001g0216	3	359	0.0084	172	c.351 others(189): Show c.351+2935_351+2936insGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT ATGCATACATATATGCATGCATATATATATGTATACATATATGT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(165): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	254	0.0039	172	c.-49 others(189): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATGTGTATATAT ATGTGTATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATATGTGTATATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(165): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	254	0.0039	172	c.-49 others(189): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATGTGTATATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(165): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATGT GTATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	254	0.0039	172	c.-49 others(189): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(165): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0181 a0002c0001t0001g0181	1	372	0.0027	172	c.-14 others(191): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(165): Show TACACACACACACACACACACACACACACACACACGTGTGCTACTGCCCA GGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACACA CACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCCAT CCTCCTAATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	356	0.0028	172	c.278 others(191): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTATTAGGAGGATG GGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGCCTGG GCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RCOR1_chr14_102587649_102735561	102676471	C C	CCCCCCCA others(165): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG02717.hp2 others(5): Show HG00639.hp1 HG01515.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp1 NA18945.hp2 NA19068.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0036 others(5): Show a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0032g0057	8	292	0.0274	172	c.362 others(189): Show c.362-5379_362-5378insCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(165): Show ACCCCCCCCACCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG03130.hp1 HG01496.hp2 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0011g0025 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0011g0025	3	292	0.0103	172	c.362 others(189): Show c.362-5380_362-5379insACCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676507	A A	ACCCCCCC others(165): Show ACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02735.hp1 NA18940.hp1 HG01884.hp1 HG02735.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0001 a0001c0001t0045	a0001c0001t0001g0007 a0001c0001t0001g0107 a0001c0001t0045g0203 a0001c0001t0001g0007 a0001c0001t0001g0107 a0001c0001t0045g0203	3	292	0.0103	172	c.362 others(189): Show c.362-5379_362-5378insCCCCCGCCTCCCTCCCGGACGGGGCAGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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