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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(297): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00738.hp1 others(16): Show HG00544.hp2 HG00673.hp2 HG00738.hp1 HG01168.hp2 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA18950.hp2 NA19001.hp1 NA19030.hp2 NA19054.hp1 NA19067.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0275 others(16): Show a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0275 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0088 a0001c0001t0005g0090 a0002c0002t0001g0022 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0148 a0002c0002t0001g0152 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0003g0125	19	114	0.1667	304	c.-43 others(315): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACD2_chr3_123486554_123590053	123490418	G G	GAAAAAGC others(297): Show GAAAAAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	253	0.0040	304	c.44 others(315): Show c.4469_*4470insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTGGCTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding		1135		chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(297): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19057.hp1 HG04204.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	324	0.0062	304	c.187 others(321): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(297): Show AGAATATAGAATATATATTCTATATAGAATATATATTCTATATAGAATAT AGAATATATATTCTATATAGAATATGTATTCTATATAGAATATAGAATAT ATATTCTATATAGAATATATATTCTATATAGAATATAGAATATATATTCT ATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATATAGA ATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATATTAC ATATAGAATATAGAATATATATTCTATATAGAATATATATTCTATATAAT ATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	3	0.3333	304	c.123 others(325): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGTAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATAGAATATATATTCTATATT CTATATAGAATATATATTCTATATAGAATATATATTCTATATTCTATATA GAATACATATTCTATATAGAATATATATTCTATATTCTATATAGAATATA TATTCTATATAGAATATATATTCTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HEATR5A_chr14_31286788_31425550	31344587	T T	TTAGTTAT others(297): Show TTAGTTATTCTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGTCGCCCA GGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG AGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0064	1	352	0.0028	304	c.305 others(321): Show c.3058+499_3058+500insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAGAGCCAGACGCTGT CTCAAAAAAAAAAAAAAGAATAACTA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	20/35			chr14	TogoVar
HEPACAM_chr11_124914205_124941047	124940951	T T	TAAGAAAA others(297): Show TAAGAAAATAAATGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA19082.hp1 NA18956.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0033 a0001c0001t0015g0033	2	417	0.0048	304	c.-49 others(315): Show c.-4946_-4945insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGACATTTATTTTCTT	HEPACAM	ENSG00000165478.8	transcript	ENST00000298251.5	protein_coding		4905		chr11	TogoVar
HTR2C_chrX_114579086_114915061	114807165	C C	CATATATA others(297): Show CATATATACACCATATATATACCATATATACACCATATATATACCCCATA TATACACCATGTATATATACACCATATATACACCATGTATATATACACCA TATATACACCATGTATATATACACCATATATACACCATGTATATATACAC CATATATACACCATGTATATATACACCATATATACACCATGTATATATAC ACCATATATACACCATGTATATATACACCATATATACACCATGTATATAT ACACCATATATACACCATGTATATATACACCATATATACACCATGTATAT ATACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	22	0.0455	304	c.350 others(323): Show c.350-40838_350-40837insATATATACACCATATATATACCATAT ATACACCATATATATACCCCATATATACACCATGTATATATACACCATAT ATACACCATGTATATATACACCATATATACACCATGTATATATACACCAT ATATACACCATGTATATATACACCATATATACACCATGTATATATACACC ATATATACACCATGTATATATACACCATATATACACCATGTATATATACA CCATATATACACCATGTATATATACACCATATATACACCATGTATATATA CACCATATATACACCATGTATATATACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(297): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00642.hp1 others(52): Show HG00140.hp2 HG00408.hp1 HG00642.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01192.hp1 HG01358.hp1 HG01981.hp2 HG02015.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp1 NA19060.hp2 NA19065.hp2 NA19084.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0021 others(4): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0030 a0001c0002t0033	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0011 others(37): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0210 a0001c0002t0004g0001 a0001c0002t0004g0033 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0140 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0021g0125 a0001c0002t0022g0133 a0001c0002t0022g0139 a0001c0002t0023g0033 a0001c0002t0030g0110 a0001c0002t0033g0001	55	58	0.9483	304	c.-36 others(315): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(297): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATTATATATGATATATAATACATACATATATTATATATGATATAA AATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01261.hp1 others(20): Show HG00642.hp1 HG01074.hp1 HG01261.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02300.hp1 HG03490.hp1 HG04115.hp1 NA18940.hp1 NA18943.hp1 NA18948.hp1 NA18953.hp1 NA18962.hp1 NA18977.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA19009.hp1 NA19056.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0005g0084	23	73	0.3151	304	c.772 others(323): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATTATATATG ATATAAAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(297): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATCATATATAATATATACATATATTATATATGATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATGATATATA ATATATACATATATTATATATCATATATAATATATACATATATTATATAT CATATATTATATATGATATATAATACATACATATATTATATATGATATAT AATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	51	0.0196	304	c.772 others(323): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATGATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATGA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATTATATATG ATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(297): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATGTATATATTATATATCATATATAATATATACATATATTA TATATGATATATAATATATACATATATTATATATCATATATAATATATGT ATATATTATATATCATATATAATATATACATATATTATATATCATATATA ATATATACATATATTATATATCATATATTATATATGATATATAATACATA CATATATTATATATGATATAAAATACATACATATATTATATATGATATAT AATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG02040.hp1 others(6): Show HG00280.hp1 HG00609.hp1 HG02040.hp1 HG02135.hp1 NA18944.hp1 NA18984.hp1 NA19005.hp1 NA19012.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0106	9	59	0.1525	304	c.772 others(323): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATACAT ATATTATATATGATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATTATATATGATATATAA TACATACATATATTATATATGATATAAAATACATACATATATTATATATG ATATATAATACATACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(297): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00642.hp1 others(49): Show HG00140.hp2 HG00408.hp1 HG00642.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp2 HG01358.hp1 HG01981.hp2 HG02015.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp2 NA18952.hp1 NA18965.hp1 NA18968.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19076.hp1 NA19084.hp1 NA19240.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0004c0004t0002 a0001c0001t0001 a0001c0001t0005 a0004c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0005g0082 a0004c0004t0002g0199	52	53	0.9811	304	c.84 others(313): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATAATATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(297): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATGTATAATATATAATATATATTATATATTATAT ATATTATATGTAATATATAATATATAATATATAATATATAATATATAATA TATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA19080.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0068 a0001c0001t0001g0097	2	3	0.6667	304	c.84 others(313): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATGTATAATATATAATATATA TTATATATTATATATATTATATGTAATATATAATATATAATATATAATAT ATAATATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0215 a0001c0001t0001g0151 a0001c0001t0001g0215	2	316	0.0063	304	c.411 others(319): Show c.411+839_411+840insTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01975.hp1 others(12): Show HG00558.hp1 HG01070.hp2 HG01975.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02155.hp2 NA18944.hp2 NA18945.hp1 NA18961.hp2 NA18980.hp2 NA18986.hp1 NA18993.hp1 NA19075.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0003c0015	a0001c0001t0001 a0001c0001t0009 a0001c0001t0035 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0035 a0001c0006t0001 a0001c0014t0001 a0003c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0149 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0035g0196 a0001c0006t0001g0322 a0001c0014t0001g0205 a0003c0015t0001g0004	15	329	0.0456	304	c.411 others(319): Show c.411+839_411+840insTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10672358	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0085 a0002c0003t0007g0085	1	343	0.0029	304	c.411 others(319): Show c.411+839_411+840insTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
INPP4B_chr4_142018160_142851301	142460869	T T	TCCACATT others(297): Show TCCACATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03017.hp2 HG00642.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0012 a0001c0002t0007 a0001c0002t0012	a0001c0002t0007g0079 a0001c0002t0012g0080 a0001c0002t0007g0079 a0001c0002t0012g0080	2	89	0.0225	304	c.-12 others(323): Show c.-127+1793_-127+1794insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAATGTGG	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	3/25			chr4	TogoVar
IRAK2_chr3_10159919_10248745	10224736	C C	CCATCCAC others(297): Show CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCAC CCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCAT CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTAC CCACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	216	0.0046	304	c.121 others(323): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATC CACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IZUMO3_chr9_24537952_24550897	24546436	C C	CTCCTTTT others(297): Show CTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	420	0.0024	304	c.-78 others(313): Show c.-788_-787insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGGA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		540		chr9	TogoVar
JAZF1_chr7_27825577_28185795	27980742	T T	TAAAAGCA others(297): Show TAAAAGCACCATCTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	202	0.0050	304	c.188 others(323): Show c.188+11166_188+11167insTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAAGATGGTGCTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp2 HG01123.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0206 a0001c0003t0001g0198 a0001c0003t0001g0206	2	12	0.1667	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 NA18962.hp2 HG02258.hp2 HG02559.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0049 a0001c0001t0001 a0001c0001t0002 a0001c0001t0049	a0001c0001t0001g0267 a0001c0001t0002g0074 a0001c0001t0049g0077 a0001c0001t0001g0267 a0001c0001t0002g0074 a0001c0001t0049g0077	3	13	0.2308	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTG GGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0278 a0001c0001t0037g0278	1	11	0.0909	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0068 a0004c0013t0003g0068	1	11	0.0909	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCCACCCCCACCATCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0210	1	11	0.0909	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGGT GGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(297): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAG CTCTC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	11	0.0909	304	c.117 others(325): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(297): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATCTATATATATCCAAGAGGATATATATATATATATATCCAAGAG GATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19000.hp2 HG03942.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0232 a0001c0001t0003g0068 a0001c0001t0003g0232	2	107	0.0187	304	c.-67 others(323): Show c.-67-49088_-67-49087insATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATCTATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(297): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATA TCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATCTATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	106	0.0094	304	c.-67 others(323): Show c.-67-49088_-67-49087insATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATCTATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(297): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATA TCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATCTATATATATATCCAAGAGGATA TATATCTATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	106	0.0094	304	c.-67 others(323): Show c.-67-49088_-67-49087insATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATCTATATATATATCC AAGAGGATATATATCTATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(297): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAT CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCA CCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCC CTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCC CCCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCACTCACC CGAAAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCT CTCCA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0312 a0001c0001t0103g0312	1	341	0.0029	304	c.64+ others(321): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCT CTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(297): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACT CTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCT CCGCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG01109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0048 a0001c0001t0011 a0001c0004t0048	a0001c0001t0011g0084 a0001c0004t0048g0138 a0001c0001t0011g0084 a0001c0004t0048g0138	2	77	0.0260	304	c.135 others(323): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGC TCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK4_chr19_50901351_50916395	50913650	G G	GTCTCTCT others(297): Show GTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCT GTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTGT CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCAC CTGTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGT CTCTGTCTCTCTGTCTGTGGCTTCGCACCTGTCTCTGTCCATCTTTCTCT GTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	410	0.0024	304	c.-23 others(315): Show c.-2324_-2323insGACACAGAGAAAGATGGACAGAGACAGGTGCGAA GCCACAGACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGAGACACAGA GAAAGATGGACAGAGACACAGGTGCGGAGACACAGACAGAGAGACAGAGA CAGAGATGGGAGGAGAGAGAGACACAGAGAAAGATGGACAGACACACAGG TGCGGAGACACAGACAGAGAGACAGAGACAGAGATGGGAGGAGAGAGACA CAGAGAAAGATGGACAGACACAGGTGCAGAGACAGACAGAGAGACAGAGA CAGAGATGGGAGGAGAGAGA	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2256		chr19	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(297): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19080.hp2 NA19090.hp1 NA18989.hp2 NA19080.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0313 a0001c0001t0009g0343 a0001c0001t0013g0311 a0001c0001t0009g0313 a0001c0001t0009g0343 a0001c0001t0013g0311	3	356	0.0084	304	c.997 others(321): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(297): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTC ACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCT CCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18939.hp1 NA18973.hp2 others(2): Show HG00597.hp2 NA18939.hp1 NA18973.hp2 NA18994.hp1 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0286 others(2): Show a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0292	5	170	0.0294	304	c.66 others(315): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LGI2_chr4_24993847_25035946	25017850	T T	TAGAATGT others(297): Show TAGAATGTTTACCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0159 a0001c0001t0019g0159	1	447	0.0022	304	c.655 others(319): Show c.655+138_655+139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGTAAACATTCT	LGI2	ENSG00000153012.12	transcript	ENST00000382114.9	protein_coding	6/7			chr4	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACACA others(297): Show CACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACAC ACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACAC ACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCGTC CTTCAAACACACACACACCACACACACATCTAACACACACCTCCTTCAGA CACACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACAC ACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ATCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp2 others(98): Show HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp2 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0011 a0012 a0013 a0015 a0016 a0017	a0001c0001 a0001c0005 a0001c0020 others(18): Show a0001c0001 a0001c0005 a0001c0020 a0001c0028 a0001c0029 a0001c0030 a0001c0034 a0002c0002 a0002c0006 a0002c0013 a0003c0004 a0003c0025 a0004c0003 a0004c0033 a0005c0010 a0011c0027 a0012c0021 a0013c0015 a0015c0026 a0016c0018 a0017c0019	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0020t0001 a0001c0028t0004 a0001c0029t0001 a0001c0030t0001 a0001c0034t0004 a0002c0002t0002 a0002c0002t0003 a0002c0006t0002 a0002c0013t0002 a0003c0004t0001 a0003c0025t0004 a0004c0003t0003 a0004c0033t0003 a0005c0010t0001 a0011c0027t0001 a0012c0021t0002 a0013c0015t0002 a0015c0026t0001 a0016c0018t0002 a0017c0019t0003	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 others(97): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0004g0054 a0001c0005t0001g0186 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0207 a0001c0020t0001g0153 a0001c0028t0004g0046 a0001c0029t0001g0199 a0001c0030t0001g0227 a0001c0034t0004g0096 a0002c0002t0002g0002 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0124 a0002c0002t0002g0140 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0218 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0003g0100 a0002c0006t0002g0157 a0002c0013t0002g0197 a0003c0004t0001g0112 a0003c0004t0001g0147 a0003c0004t0001g0181 a0003c0004t0001g0202 a0003c0004t0001g0216 a0003c0025t0004g0098 a0004c0003t0003g0099 a0004c0033t0003g0095 a0005c0010t0001g0210 a0011c0027t0001g0125 a0012c0021t0002g0178 a0013c0015t0002g0200 a0015c0026t0001g0183 a0016c0018t0002g0191 a0017c0019t0003g0020	101	241	0.4191	304	c.212 others(323): Show c.212+11037_212+11038insACCTAACACACACCTTCAAGCACACA CTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACACA CCTAACACACCCGTCCTTCAAACACACACACACCACACACACATCTAACA CACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACA CCTTCAAACACACACACACACCTAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACATCTAACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205230	C C	CACACACA others(297): Show CACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAACACAC ACACACCTAACACACACCTCCTCCAAACACACACACCTCCAAACACACAC ACACCTAACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCT TCAAACACACACACACCACACACACATCTAACACACACCTCCTTCAGACA CACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACAC ACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACAC ATCTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18994.hp1 NA18960.hp2 NA18994.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0217 a0007c0008t0002g0228 a0007c0008t0002g0217 a0007c0008t0002g0228	2	142	0.0141	304	c.212 others(323): Show c.212+11037_212+11038insACCTAACACACACCTTCAAGCACACA CTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACACACACA CCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACACACC TAACACACCCGTCCTTCAAACACACACACACCACACACACATCTAACACA CACCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACC TTCAAACACACACACACACACCTAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACATCTAACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LINGO2_chr9_27932617_29218601	28189357	G G	GAGGAAGG others(297): Show GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGG AAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGG AAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0010	1	49	0.0204	304	c.-36 others(325): Show c.-36+105850_-36+105851insTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCT TCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	858342	T T	TCGGGATG others(297): Show TCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGACTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGACTGG TGTCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	274	0.0036	304	c.153 others(323): Show c.1530-3637_1530-3636insTGACACCAGTCACACCCGTCCCGTGA CACCAGTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCACAC CCATCCCGAGACACCACTGCACACCCATCCCGAGTCACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(297): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCAC GGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGG ATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGACGG GTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	262	0.0038	304	c.153 others(323): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCC ATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(297): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG00735.hp1 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0049 a0002c0002t0021 a0002c0002t0049	a0002c0002t0021g0062 a0002c0002t0049g0064 a0002c0002t0021g0062 a0002c0002t0049g0064	2	220	0.0091	304	c.368 others(321): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCC CGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364784	G G	GCCCACAC others(297): Show GCCCACACTCACACCCACCCACACTTACACCCACCCTTACACCTACCTCC ACGCCCACACTTACACCCACCCACACTTACACCCACCCTTACACCTACCT CCACGCCCACACCCTGGGGCCCCACACTCATGCAGTCCGCGTCCACGCTT ACACCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACCCTTACACCTACCTCC ACGCCCACACTCACACCCACCCACACTTACACTCATGCTTACATCTACCT CCACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	271	0.0037	304	c.129 others(321): Show c.1290-600_1290-599insCCTACCTCCACGCCCACACTTACACCCA CCCACACTTACACCCACCCTTACACCTACCTCCACGCCCACACCCTGGGG CCCCACACTCATGCAGTCCGCGTCCACGCTTACACCTACCTCCACGCCCA CACTTACACTCATGCTTACATCTACCTCCACGCCCACACTCACACCCACC CACACTTACACCCACCCTTACACCTACCTCCACGCCCACACTCACACCCA CCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACCCTTACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM3_chr10_66921036_67106551	67025885	T T	TAAGAAAA others(297): Show TAAGAAAATGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA21309.hp2 HG02896.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0283 a0001c0001t0004g0088 a0001c0001t0001g0283 a0001c0001t0004g0088	2	282	0.0071	304	c.153 others(325): Show c.1537-71690_1537-71689insAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAGAAAATGTGG	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1930295	C C	CCCCACTG others(297): Show CCCCACTGCCACATCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTACT GCCACGTCCCCACTGCCCCGTCCCCTCGCCCCGTCCCCACTGCCACAACC CCTCGCCCCGTCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACT GCCACGTCCCCTCGCCCCGTCCCCACTGCCACATCCCCTCGCCCCGTCCC CCACTGCCACGTCCCCTACTGCCACGTCCCCACTGCCCCGTCCCCCTCGC CCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	256	0.0039	304	c.180 others(323): Show c.1807+6391_1807+6392insACGGGGCGAGGGGGACGGGGCAGTGG GGACGTGGCAGTAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGATGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGGACGTGGCAGTGGGGACGGGGCGAGGGGTTGTGGCAGTGGGGACGGG GCGAGGGGACGGGGCAGTGGGGACGTGGCAGTAGGGGACGTGGCAGTGGG GGACGGGGCGAGGGGATGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAN2A1_chr5_109684927_109874625	109783739	T T	TTTAAATA others(297): Show TTTAAATAAGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01168.hp1 others(6): Show HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01516.hp1 HG02896.hp2 HG03041.hp1 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0015 a0001c0004t0033 a0001c0004t0004 a0001c0004t0015 a0001c0004t0033	a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0033 others(6): Show a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0046 a0001c0004t0004g0051 a0001c0004t0004g0053 a0001c0004t0004g0211 a0001c0004t0015g0210 a0001c0004t0033g0032	9	280	0.0321	304	c.157 others(321): Show c.1578-991_1578-990insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCTTAAATAAGTTTTT	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCOLN2_chr1_84920583_85002113	84987509	T T	TATACATA others(297): Show TATACATATATACATATATACATATATGTATATATAGATATATATACATA TATACATATATGTATATACCTATATACATATATAGATATATACATATGTA TATATGTATATAGATATACATACATAGATATATACATATATGTATATATA TACATATATGTATATCTATATACATATATGTATATATATACATATATGTA TATATATACATATATGTATATATCGATATATACATATATGTATATATCTA TATATACATATATGTATATATAGATATATACATATATGTATATATCGATA TATAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	348	0.0029	304	c.77+ others(319): Show c.77+9286_77+9287insGTATATATCGATATATACATATATGTATAT ATCTATATATACATATATGTATATATAGATATATACATATATGTATATAT CGATATATACATATATGTATATATATACATATATGTATATATATACATAT ATGTATATAGATATACATATATGTATATATATACATATATGTATATATCT ATGTATGTATATCTATATACATATATACATATGTATATATCTATATATGT ATATAGGTATATACATATATGTATATATGTATATATATCTATATATACAT ATATGTATATATGTATATATGTAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MECOM_chr3_169078507_169668712	169427196	T T	TAAAAATT others(297): Show TAAAAATTATGATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGACTCAA AAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02886.hp2 others(4): Show HG02109.hp1 HG02572.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0013 a0001c0001 a0001c0008 a0004c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0008t0004 a0004c0013t0003	a0001c0001t0002g0037 a0001c0001t0003g0064 a0001c0001t0006g0106 others(4): Show a0001c0001t0002g0037 a0001c0001t0003g0064 a0001c0001t0006g0106 a0001c0001t0007g0084 a0001c0001t0028g0086 a0001c0008t0004g0017 a0004c0013t0003g0055	7	157	0.0446	304	c.38- others(321): Show c.38-45673_38-45672insTTTTTTTGAGTCGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAAACATCATAATTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(297): Show TTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	102	0.0098	304	c.107 others(323): Show c.1073+5154_1073+5155insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIPEP_chr13_23725189_23894400	23802688	A A	AAAGATTT others(297): Show AAAGATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACTGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	298	0.0034	304	c.184 others(323): Show c.1848+3261_1848+3262insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCAGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATCTT	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	16/18			chr13	TogoVar
MKKS_chr20_10396009_10439222	10397258	T T	TAAAAAAG others(297): Show TAAAAAAGAACATAGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(48): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG01255.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG03516.hp1 HG03654.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18966.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19055.hp2 NA19059.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0030 a0002c0002t0003 a0002c0002t0010 others(5): Show a0001c0003t0030 a0002c0002t0003 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0003c0004t0014	a0001c0003t0030g0069 a0002c0002t0003g0011 a0002c0002t0003g0028 others(45): Show a0001c0003t0030g0069 a0002c0002t0003g0011 a0002c0002t0003g0028 a0002c0002t0003g0079 a0002c0002t0003g0140 a0002c0002t0003g0168 a0002c0002t0003g0188 a0002c0002t0003g0223 a0002c0002t0003g0232 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0269 a0002c0002t0003g0289 a0002c0002t0010g0230 a0002c0002t0010g0231 a0002c0002t0022g0274 a0002c0002t0023g0233 a0002c0002t0026g0241 a0002c0002t0027g0243 a0003c0004t0014g0270 a0003c0004t0014g0271 a0003c0004t0014g0272	51	350	0.1457	304	c.79 others(315): Show c.7988_*7989insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCACTATGTTCTTTTTT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding		3750		chr20	TogoVar

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