Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(188): Show ATATATTATATATATTATATATATTATATATATATTATATATATAATATA TATAATATATATAATATAATATATTTTATATATATATAATATATTATATA ATATAATATATATATTATATATATAATATATATATAATATAATATAATAT AATATATTATATTATATAATATATGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0020 a0003c0004t0003g0020	1	191	0.0052	195	c.9+6 others(206): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATATTA TATATATAATATATATAATATATATAATATAATATATTTTATATATATAT AATATATTATATAATATAATATATATATTATATATATAATATATATATAA TATAATATAATATAATATATTATATTATATAATATATGATATAAATATAA TATATATTTTA		OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(188): Show TTTATATATATTTTATATATAATATATATTATATATATTATATATATTAT ATATAAATATATATTATATATAATATATATAATATATATTATATATAATA TATATTATATTATATATAATATATATTATATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATATTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	187	0.0053	195	c.-23 others(206): Show c.-2320_-2319insTTATATATAATATATATAATATATATTATATATA ATATATATAATATATATTATATATATTATATATATAATATATATTATATA TAATATAATATATATTATATATAATATATATTATATATATTATATATAAT ATATATTTATATATAATATATATAATATATATAATATATATTATATATAA AATATATATAA		OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding					2320		chr11	TogoVar
PAM16_chr16_4335251_4356321	4344533	T T	TGTGAGAG others(188): Show TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG ATTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02486.hp2 others(5): Show HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02965.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0227 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231	8	360	0.0222	195	c.4-1 others(208): Show c.4-1243_4-1242insGGAACCCCCTCCTCTCACACAGTCCCCTTCTC TCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCT CCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACC CCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAAC CCCCTCCTCTCAC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGCG others(188): Show GGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGC GGGGGGCGGGGGGGGGCGGGGGGGGCGGCGGGGGGCGGGGGGCGGGGGGG GCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGG GCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0192 a0001c0002t0007g0192	1	81	0.0123	195	c.-95 others(204): Show c.-958_-957insGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGG GGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGCGGCGGGGGGCG GGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGG GGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGG GCGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(188): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGG GGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0141 a0002c0009t0003g0141	1	81	0.0123	195	c.-95 others(204): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGG GGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGC GGGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562916	C C	CGGGGGGT others(188): Show CGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGG GGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGGGCGGGGGGG GCGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0202 a0001c0005t0004g0202	1	137	0.0073	195	c.-95 others(204): Show c.-951_-950insGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAG CTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCG GGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGG GGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGC GGGGGGCGG		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					758		chrX	TogoVar
PCBP3_chr21_45638725_45947450	45852485	A A	AGAAGGAA others(188): Show AGAAGGAACACAGCCCTGCAGCCATGCTGATTTTTGTTCAGAAGGAACAC AGCCCTGCAGCCACCCTGACTTCTGTTCGGAAGGAACACAGCCCTGCAGC CATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGCAGCCACACTGATTT TTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTCTGTTCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(46): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01891.hp1 HG01975.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18998.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0004t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 others(46): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0232 a0001c0001t0003g0020 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0066 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0231 a0001c0001t0009g0103 a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0022g0216 a0001c0004t0002g0087 a0001c0004t0002g0088	49	288	0.1701	195	c.10+ others(210): Show c.10+2407_10+2408insCAGCCATGCTGATTTTTGTTCAGAAGGAAC ACAGCCCTGCAGCCACCCTGACTTCTGTTCGGAAGGAACACAGCCCTGCA GCCATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGCAGCCACACTGAT TTTTGTTCAGAAGGAACACAGCCCTGCAGCCACCCTGACTTCTGTTCGGA AGGAACACAGCCCTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	731898	C C	CCCCTCCC others(188): Show CCCCTCCCCTCGTGGGTGGGCGAGGTCCTCAGGGGCGTAGGGCGGGGCTC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCGGGCGTAGGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	247	0.0040	195	c.-10 others(210): Show c.-10+791_-10+792insTCCCCTCGTGGGTGGGCGAGGTCCTCAGGG GCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGG CGTAGGGCGGGGCTCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGG CGTAGGGCGGGGCTCCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCGGGCG TAGGGCGGGGCTCCC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(188): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(22): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02300.hp1 HG02602.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0048 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0002g0144 a0001c0001t0004g0068 a0001c0001t0006g0049 a0001c0002t0001g0083 a0001c0004t0001g0038 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0067 a0001c0004t0001g0096	25	29	0.8621	195	c.161 others(212): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG GTTGGATAAATGGATGG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(188): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA19004.hp2 HG02056.hp1 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0084 a0001c0004t0001g0131 a0001c0003t0001g0084 a0001c0004t0001g0131	2	184	0.0109	195	c.32 others(206): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGC		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding					3055		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(188): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(37): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01981.hp2 HG02027.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18946.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18998.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0002c0007t0001	a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0098 others(37): Show a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0218 a0001c0001t0001g0237 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0311 a0001c0001t0002g0016 a0001c0001t0002g0130 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0004g0231 a0001c0001t0007g0088 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0001g0061 a0001c0002t0001g0110 a0001c0002t0001g0158 a0001c0002t0001g0317 a0001c0002t0002g0029 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0108 a0001c0002t0002g0112 a0001c0003t0001g0086 a0001c0003t0002g0065 a0001c0005t0001g0163 a0001c0005t0001g0261 a0002c0007t0001g0166	40	222	0.1802	195	c.32 others(206): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGC		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding					3055		chr21	TogoVar
PERM1_chr1_970198_987093	976714	A A	ACCAACCC others(188): Show ACCAACCCCAGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGAAACCGCCTCCCACTCCCCCCGCAACCC CGGGAAACCGCCTCCCACTCCCCCCCACCAACCCCCGGGAACCGCCCGCC CCTCCCACTCCCCCCGCACCCCGGCGATCCGCCTCCCACTCCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	403	0.0025	195	c.215 others(210): Show c.2150-91_2150-90insGGGGGGAGTGGGAGGCGGATCGCCGGGGTG CGGGGGGAGTGGGAGGGGCGGGCGGTTCCCGGGGGTTGGTGGGGGGGAGT GGGAGGCGGTTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTTCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGTGGGGGGAGTGGGAGG CGGTTCTGGGGTTGG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	976940	C C	CAACCCGG others(188): Show CAACCCGGGAAACCGCCTCTCCACTCCCCCCACCAACCCCGGGAACCGCC TGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCACTCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	406	0.0025	195	c.215 others(212): Show c.2150-317_2150-316insTGGTGGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGAGTGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGAG AGGCGGTTTCCCGGGTT		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PFKP_chr10_3062548_3141802	3106196	A A	AGGGAGGC others(188): Show AGGGAGGCAGAAAGCGTGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGC GTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0305 a0001c0002t0002g0305	1	74	0.0135	195	c.774 others(210): Show c.774+709_774+710insGTGGCGTGCACGGGGCGCCTGTGGGGCGTC CACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGCGTGCACGGGG CGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGC ATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCA TGGGAGGCAGAAAGC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106196	A A	AGGGAGGC others(188): Show AGGGAGGCAGAAAGCGTGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCT GTGTGTCCTTCCCCATGGGAGGCAGAAAGCGTGGCGTGCACGGGGCGCCT GTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCATGGC GTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0013 a0009c0048t0013	a0009c0048t0013g0353 a0009c0048t0013g0353	1	74	0.0135	195	c.774 others(210): Show c.774+709_774+710insGTGGCGTGCACGGGGCGCCTGTGGGGCGTC CACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGCGTGGCGTGCACGGGG CGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCATGGGAGGCAGAAAGC ATGGCGTGCACGGGGCGCCTGTGGGGCGTCCACCTGTGTGTCCTTCCCCA TGGGAGGCAGAAAGC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(188): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCT CTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCT CTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0239 a0001c0004t0004g0239	1	173	0.0058	195	c.775 others(210): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCT TCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCT TCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCC TCACCCCTGCCCCCT		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PGBD5_chr1_230309490_230431332	230315969	C C	CACTATGT others(188): Show CACTATGTATGTGTATACATACATATGTATATGTGTACACATATATGTAT GTGTATACATACATATGTATATGTGTACACATATATGTATGTGTATACAT ACATATGTATATGTGTACACATATATGTATGTGTATACATACATATGTAT ATGTGTACACATATATGTATGTGTATACATACATATGTATATGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02622.hp1 others(1): Show HG02145.hp1 HG02486.hp1 HG02622.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0052 a0001c0001t0019 a0001c0001t0052	a0001c0001t0019g0019 a0001c0001t0019g0033 a0001c0001t0019g0034 others(1): Show a0001c0001t0019g0019 a0001c0001t0019g0033 a0001c0001t0019g0034 a0001c0001t0052g0182	4	286	0.0140	195	c.74 others(206): Show c.7455_*7456insACACATATACATATGTATGTATACACATACATAT ATGTGTACACATATACATATGTATGTATACACATACATATATGTGTACAC ATATACATATGTATGTATACACATACATATATGTGTACACATATACATAT GTATGTATACACATACATATATGTGTACACATATACATATGTATGTATAC ACATACATAGT		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7				7455		chr1	TogoVar
PHF21B_chr22_44876162_45015005	44884044	C C	CCATCACC others(188): Show CCATCACCACCACCATGATCACCATTATCACCACCGCCACCACCATCACT GTGATCAGCACCATCACCACCACCATCACCACCACCATGATCACCATTAT CACCACCGCCACCACCATCACTGTGATCAGCACCATCACCACCACCATGA TCACCATTATCACCACCGCCACCACCATCACTGTGATCAGCACCAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19055.hp2 NA18954.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0135 a0001c0001t0003g0111 a0001c0001t0003g0135	2	203	0.0099	195	c.137 others(212): Show c.1378-741_1378-740insATGGTGCTGATCACAGTGATGGTGGTGG CGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGCTGATCACAGTG ATGGTGGTGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGGT GGTGATGGTGCTGATCACAGTGATGGTGGTGGCGGTGGTGATAATGGTGA TCATGGTGGTGGTGATG		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12						chr22	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(188): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	25	0.0400	195	c.218 others(214): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCC TCCCCTCCCCCCCTTCCCC		PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
PIAS4_chr19_4002736_4044386	4036294	A A	ACATCCAT others(188): Show ACATCCATACAGTCCACACCATCACACACACATCCGTACAGCCCACACAT CACACACACATCCGTACAGTCCACACATCACACACACATCCATACAGTCC ACACCGTCACACACACACATCCATACAGTCCACACCATCACACACACATC CATACAGTCCACACCATCACACACACATCTATACAGTCCACACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0094 a0001c0001t0021g0094	1	248	0.0040	195	c.114 others(214): Show c.1143-1078_1143-1077insTCCATACAGTCCACACCATCACACAC ACATCCGTACAGCCCACACATCACACACACATCCGTACAGTCCACACATC ACACACACATCCATACAGTCCACACCGTCACACACACACATCCATACAGT CCACACCATCACACACACATCCATACAGTCCACACCATCACACACACATC TATACAGTCCACACCATCA		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
PIM1_chr6_37165152_37180428	37179428	T T	TAATATAT others(188): Show TAATATATATTATATATATTATATATTATATATTATATATAATATATATT ATATATATTATATATTATATATAATATATAATATATAATATATATTATAT AAAATATATAATATATATTATATATATTATATATTATATATTATATATAA TATATAATATATAATATATATTATATAAAATATATAATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA19240.hp2 HG02055.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	409	0.0049	195	c.53 others(206): Show c.5337_*5338insAATATATATTATATATATTATATATTATATATTA TATATAATATATATTATATATATTATATATTATATATAATATATAATATA TAATATATATTATATAAAATATATAATATATATTATATATATTATATATT ATATATTATATATAATATATAATATATAATATATATTATATAAAATATAT AATATATATTA		PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding					4001		chr6	TogoVar
PLCXD1_chrX_276381_308356	296771	T T	TATTATTC others(188): Show TATTATTCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCA TTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0023 a0001c0001t0047g0023	1	174	0.0057	195	c.734 others(212): Show c.734-2182_734-2181insACATTATTCTGTCTATCACATGGGGATT AGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAG GACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGA CGTGGACATCTTTGGGG		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	296884	A A	ACATGGGG others(188): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCCCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACA TGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0008 a0001c0003t0083g0008	1	160	0.0063	195	c.734 others(212): Show c.734-2182_734-2181insACATTATTCTGTCCCCCACATGGGGATT AGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGA CGTGGACATCTTTGGGG		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998659	T T	TATATATT others(188): Show TATATATTATATATATAATATATATAATATATATTATATATATTTATATA AAATATATATAATATATATTATATATTATATATAAAATATATATAAATAT ATATTATATATATTATATATAAAATATATATAAATAATATATATTATATA TTATATATTATATAATATATAATATATAATATATATTATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG02132.hp1 others(7): Show HG00639.hp2 HG01257.hp1 HG02132.hp1 NA18950.hp1 NA18954.hp2 NA18988.hp1 NA19007.hp1 NA19055.hp1 NA19065.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	10	178	0.0562	195	c.-49 others(206): Show c.-4957_-4956insTATATAAATAATATATATTATATATTATATATTA TATAATATATAATATATAATATATATTATTTATATATATTTTATATATAA TATATATAATATATATTTATATATATTTTATATATAATATATAATATATA TTATATATATTTTATATAAATATATATAATATATATTATATATATTATAT ATATAATATAT		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4544		chrX	TogoVar
POR_chr7_75910155_75991855	75988952	G G	GGGGGGGT others(188): Show GGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGCC GGGTGGGGTGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGG GGAAGGCCGGGTTGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTG GAGGGGAAGGCCGGGTTGGGGGGTGGAGGGGAAGGCCGGGTGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0219 a0002c0001t0002g0219	1	250	0.0040	195	c.24 others(206): Show c.2471_*2472insGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGG GTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGCCGGGTGG GGTGGGGGGTGGAGGGGAAGGCCGGGTTGGGGGGTGGAGGGGAAGGCCGG GTGGGGTGGGGGGTGGAGGGGAAGGCCGGGTTGGGGGGTGGAGGGGAAGG CCGGGTGGGGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2098		chr7	TogoVar
PREX1_chr20_48619252_48832999	48685901	C C	CAAAAGAT others(188): Show CAAAAGATAAATCAGAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18979.hp1 NA19066.hp1 HG04115.hp2 NA18979.hp1 NA19066.hp1	a0004 a0014 a0004 a0014	a0004c0004 a0014c0038 a0004c0004 a0014c0038	a0004c0004t0001 a0014c0038t0001 a0004c0004t0001 a0014c0038t0001	a0004c0004t0001g0133 a0004c0004t0001g0145 a0014c0038t0001g0191 a0004c0004t0001g0133 a0004c0004t0001g0145 a0014c0038t0001g0191	3	230	0.0130	195	c.133 others(214): Show c.1334+2755_1334+2756insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTCTGATTTATCTTTT		PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	10/39						chr20	TogoVar
PRKCA_chr17_66297613_66815743	66799254	T T	TGGTGGTG others(188): Show TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0055 a0001c0003t0009g0055	1	176	0.0057	195	c.185 others(214): Show c.1855-4600_1855-4599insATGGTGGTGGTGGTGGTGGTGGTGAC GGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGAC GGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123960	C C	CTATAGTT others(188): Show CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGAT CACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	172	0.0058	195	c.335 others(214): Show c.335-11302_335-11301insTATAGTTGGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124192	T T	TGTAGTTA others(188): Show TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04184.hp2 HG02970.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0162 a0001c0002t0001g0166 a0001c0001t0001g0162 a0001c0002t0001g0166	2	73	0.0274	195	c.335 others(214): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTATAGTT others(188): Show CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	62	0.0161	195	c.335 others(214): Show c.335-10909_335-10908insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKX_chrX_3599340_3718649	3639498	A A	ACATGGAT others(188): Show ACATGGATGGATGAAGGAGTGGGTGGGTGGATGGATGAAGGGGTGGGGGT GGATGGATGAAGGGGTGGGTGGGTGGATGGATGAAGGGGTAGAGGGGTGG GGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGG GTGGGGGGGTGGATGGATGAAGGGGTAGGGGGTGGGGGAGTGGGTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0119 a0002c0011t0119	a0002c0011t0119g0194 a0002c0011t0119g0194	1	189	0.0053	195	c.719 others(212): Show c.719+2353_719+2354insCACCCACTCCCCCACCCCCTACCCCTTC ATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCC ATCCATGCACCCACCCCCCCACCCCTCTACCCCTTCATCCATCCACCCAC CCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCACCCAC TCCTTCATCCATCCATG		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRODH2_chr19_35794988_35817845	35809804	C C	CAAAAAAT others(188): Show CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0148 a0002c0004t0002g0148	1	418	0.0024	195	c.597 others(212): Show c.597+2157_597+2158insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTT		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9						chr19	TogoVar
PRODH2_chr19_35794988_35817845	35809804	C C	CAAAAAAT others(188): Show CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	418	0.0024	195	c.597 others(212): Show c.597+2157_597+2158insTTTTTTTTTTTTTTTTTTTTTTTTTGTT TGTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTT		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9						chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCTCCA others(188): Show TCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	207	0.0048	195	c.23 others(206): Show c.2346_*2347insCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCC		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2066		chr19	TogoVar
PRSS57_chr19_680546_700452	689150	A A	AGAAGGGT others(188): Show AGAAGGGTGGTCCACAGGTTAGCAGGTGACGACGGGGCTAGAAGGGTGGT CCAGGGGTTAGCAGGAGATGATGGGGCCAGAAGGGTGGTCCAGGGGTTAG CAGGTGACGACGGGGCTGGAAGGGTGGTCCAGGGGTTAGCAGGTGACGAC GGGGCTGGAAGGGTGGTCCAGGGGTTAGCAGGAGATGATGGGGCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02965.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02965.hp1 HG03195.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0146 a0001c0001t0001g0193	6	330	0.0182	195	c.379 others(212): Show c.379-1963_379-1962insCGGCCCCATCATCTCCTGCTAACCCCTG GACCACCCTTCCAGCCCCGTCGTCACCTGCTAACCCCTGGACCACCCTTC CAGCCCCGTCGTCACCTGCTAACCCCTGGACCACCCTTCTGGCCCCATCA TCTCCTGCTAACCCCTGGACCACCCTTCTAGCCCCGTCGTCACCTGCTAA CCTGTGGACCACCCTTC		PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4						chr19	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(188): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0277	1	358	0.0028	195	c.548 others(212): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGT		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPRA_chr20_2868481_3043669	2910408	G G	GTATATTA others(188): Show GTATATTATATATTTTATATATAATATATTTTGTATATTATATATTTTAT ATATAATATATTTTGTATATTATATATTTTATATATAATATATTTTGTAT AATATATTTTATATATAATATATTTTGTATATTATATTTTATATATAATA TATTTTGTATATTATATATTTTATATATAATATATTTTGTATATTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19007.hp1 HG02080.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0121 a0001c0001t0001g0079 a0001c0001t0001g0121	2	63	0.0317	195	c.-12 others(216): Show c.-128-12788_-128-12787insTTTTATATATAATATATTTTGTAT ATTATATATTTTATATATAATATATTTTGTATATTATATATTTTATATAT AATATATTTTGTATAATATATTTTATATATAATATATTTTGTATATTATA TTTTATATATAATATATTTTGTATATTATATATTTTATATATAATATATT TTGTATATTATATATTATATA		PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGGT others(188): Show GTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGA TGATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp2 HG02970.hp1 HG03471.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0026 a0004c0006t0001g0026	2	200	0.0100	195	c.-46 others(206): Show c.-4663_-4662insTGATGGTGATGATGGTGATGGTGGTGATGATGGT GATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGGTAATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGG GGTGGTGGTAA		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4635		chr10	TogoVar
PXDN_chr2_1626887_1749515	1706784	G G	GTGTTCAC others(188): Show GTGTTCACCAATCAGCTCTAAACATCACCTGCCCCACTAATAATACAATC CGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCC ACTAATAATACAATCTGAGAGCATGCTTCACTGTTCACCAATCAGCTCTA AGCATCGCCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02970.hp1 others(1): Show HG02615.hp1 HG02896.hp2 HG02970.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0009 a0001c0001 a0001c0006 a0002c0009	a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 a0002c0009t0011	a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0006t0004g0286 others(1): Show a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0006t0004g0286 a0002c0009t0011g0081	4	236	0.0169	195	c.201 others(214): Show c.201-13651_201-13650insGTGAAGCGTGCTCTCAGATTGTATTA TTAGTGGGGCAGGCGATGCTTAGAGCTGATTGGTGAACAGTGAAGCATGC TCTCAGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTG AACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGTT TAGAGCTGATTGGTGAACA		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504692	T T	TCCTCCTG others(188): Show TCCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCT GCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACC CTTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0184 a0001c0001t0015g0184	1	286	0.0035	195	c.139 others(212): Show c.1396-821_1396-820insCCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGC ACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTC TTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACCC CCCTTACCTCCTGTACC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3B_chr1_51902956_51995700	51906874	A A	AAGGAAGG others(188): Show AAGGAAGGAAGGAGGGAGGAGGGAGGAAGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGGAGGAAGGAGGGAAGAAAGGAAAGAAGGAGGGAGGAGGG AGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAAGATGAAGGAAGGAAGG AAGGAAAGATGAAGGAAGGAAGGAAGGAAGGATGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0018 a0001c0001t0024g0018	1	59	0.0169	195	c.13 others(208): Show c.13052_*13053insCCTTCCTTCCTTCATCCTTCCTTCCTTCCTTC CTTCATCTTTCCTTCCTTCCTTCCTTCATCTTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCTCCCTCCTTCTTTCCTTTCTTCCCTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCTTCCTCCCTCCTCC CTCCTTCCTTCCT		RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding					1081		chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597762	T T	TACGATAA others(188): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG ATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTA TATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0216 a0001c0001t0059g0216	1	207	0.0048	195	c.24+ others(212): Show c.24+14531_24+14532insCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATA CGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACAT TATATATAAGTATACGA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(188): Show TACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATAC ATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG ATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTA TATATAAGTATACGATAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03453.hp2 others(3): Show HG02895.hp2 HG02897.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0032 a0001c0001t0067 a0001c0001t0084	a0001c0001t0003g0020 a0001c0001t0006g0102 a0001c0001t0006g0103 others(3): Show a0001c0001t0003g0020 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0032g0218 a0001c0001t0067g0141 a0001c0001t0084g0217	6	94	0.0638	195	c.24+ others(212): Show c.24+14560_24+14561insCGATAACATGTAATACATTATATATAAG TATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTAAT ACATTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATA CGATAACATGTAATACATTATATATAAGTATACGATAACATGTAATACAT TATATATAAGTATACGA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
RADIL_chr7_4792055_4888716	4808929	A A	AACGCCAC others(188): Show AACGCCACTGCCCCCCGTTCCGACGCCACTGTCCCCCCACGTCTCCTTCC GACGCCACTGCCCCCCCGCGTCCCCTTCCGACGCCACTGCCCCCCCGCGT CCCCTTCCGACGCCACTGCCCCCCCGCGTCCCCTTCCGACGCCACTGCCC CCCCGCGTCCCCTTCCGACGCCACTGCCCCCCCGCGTCCCCTTCCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01074.hp2 HG01081.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0019 a0012c0019t0026 a0012c0019t0019 a0012c0019t0026	a0012c0019t0019g0054 a0012c0019t0026g0163 a0012c0019t0019g0054 a0012c0019t0026g0163	2	285	0.0070	195	c.214 others(214): Show c.2140-3214_2140-3213insCGGAAGGGGACGCGGGGGGGCAGTGG CGTCGGAAGGGGACGCGGGGGGGCAGTGGCGTCGGAAGGGGACGCGGGGG GGCAGTGGCGTCGGAAGGGGACGCGGGGGGGCAGTGGCGTCGGAAGGGGA CGCGGGGGGGCAGTGGCGTCGGAAGGAGACGTGGGGGGACAGTGGCGTCG GAACGGGGGGCAGTGGCGT		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14						chr7	TogoVar
RFLNA_chr12_124290093_124321024	124320649	T T	TGGGGGGT others(188): Show TGGGGGGTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACCT CTTTGGGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTTGGTGGGGATGA CCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCGGGTAGGTG AGATGACCTCTTTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0217 a0001c0001t0008g0217	1	386	0.0026	195	c.61 others(206): Show c.6124_*6125insGGGGGGTAGGTGGGATGACCTCTTTCTTTGGGGG TAGGTGGGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCTTTGGG GGTTGGTGGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTT GTTTGCGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTTGGTGGGATGAC CTCTTTCTTTG		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4626		chr12	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(188): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0276 a0001c0003t0001g0276	1	16	0.0625	195	c.188 others(214): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RIC3_chr11_8101056_8174025	8161845	C C	CCACTTTC others(188): Show CCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAATGTCCGAAACTGTTG CTATAAATGAGACACTCACTTTCTCCGGGCAATGGAATGTGAGGAGGTAA TGTCCGAAACTGTTGCTATAAATGAGACACTCACTTTCTCCGGGCAATGG AATGTGAGGAGGTAATGTCCGAAACTGTTGCTATAAATGAGACACT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(8): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01884.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0016 a0003c0004t0023 a0003c0004t0005 a0003c0004t0016 a0003c0004t0023	a0003c0004t0005g0326 a0003c0004t0005g0327 a0003c0004t0005g0328 others(8): Show a0003c0004t0005g0326 a0003c0004t0005g0327 a0003c0004t0005g0328 a0003c0004t0005g0329 a0003c0004t0005g0330 a0003c0004t0005g0344 a0003c0004t0016g0351 a0003c0004t0016g0352 a0003c0004t0016g0353 a0003c0004t0023g0348 a0003c0004t0023g0349	11	339	0.0324	195	c.124 others(212): Show c.124+6826_124+7020dupAGTGTCTCATTTATAGCAACAGTTTCGG ACATTACCTCCTCACATTCCATTGCCCGGAGAAAGTGAGTGTCTCATTTA TAGCAACAGTTTCGGACATTACCTCCTCACATTCCATTGCCCGGAGAAAG TGAGTGTCTCATTTATAGCAACAGTTTCGGACATTACCTCCTCACATTCC ATTGCCCGGAGAAAGTG		RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	1/5						chr11	TogoVar
RIMBP2_chr12_130391133_130721299	130483660	A A	AGAGCCCC others(188): Show AGAGCCCCCGTCCCCACCTAGACACAGTGCCCGGAGCCCCCATCCCTCAC CTACACACAGTGCCCAGAGCCCCCGTCCCCACCTAGACACAGTGCCCGGA GCCCCCATCCCTCACCTACACACAGTGCCCAGAGCCCCCGTCCCCACCTA GACACAGTGCCCGGAGCCCCCATCCCTCACCTACACACAGTGCCCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	169	0.0059	195	c.-3- others(210): Show c.-3-4645_-3-4644insCGGGCACTGTGTGTAGGTGAGGGATGGGGG CTCCGGGCACTGTGTCTAGGTGGGGACGGGGGCTCTGGGCACTGTGTGTA GGTGAGGGATGGGGGCTCCGGGCACTGTGTCTAGGTGGGGACGGGGGCTC TGGGCACTGTGTGTAGGTGAGGGATGGGGGCTCCGGGCACTGTGTCTAGG TGGGGACGGGGGCTC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(188): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGCG GGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCG AGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCG ACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp1 others(84): Show HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01106.hp1 HG01243.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG02027.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0002t0006 a0001c0004t0003	a0001c0001t0001g0024 a0001c0001t0001g0175 a0001c0001t0001g0180 others(70): Show a0001c0001t0001g0024 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0230 a0001c0001t0002g0008 a0001c0001t0002g0179 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0004g0007 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0206 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0221 a0001c0001t0005g0001 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0214 a0001c0001t0010g0021 a0001c0001t0010g0025 a0001c0001t0010g0228 a0001c0001t0011g0220 a0001c0001t0013g0020 a0001c0001t0013g0183 a0001c0001t0016g0205 a0001c0001t0019g0229 a0001c0001t0026g0218 a0001c0002t0006g0222 a0001c0004t0003g0176 a0001c0004t0003g0177 a0001c0004t0003g0178	87	174	0.5000	195	c.-36 others(210): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCG CACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGG ACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCC CGCCGCCCCCGCGGC		RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(188): Show CTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTC TTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTTCTGTTT TAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0118 a0118	a0118c0151 a0118c0151	a0118c0151t0006 a0118c0151t0006	a0118c0151t0006g0243 a0118c0151t0006g0243	1	306	0.0033	195	c.402 others(204): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGA GGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAG AGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAG GAAACTAAA	p.Lys others(210): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluArgVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArgValGl nLeuGluGluThrLysGluThrGluGluGlyLeuGlnGluGluGlyValG lnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArgValGln LeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar

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