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
TTLL10_chr1_1168880_1202936	1202117	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0158 a0007c0007t0003g0158	1	345	0.0029	285	c.42 others(296): Show c.4270_*4271insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4182		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202155	C C	CAGCCCAG others(278): Show CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACC CAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0209 a0009c0014t0002g0209	1	378	0.0026	285	c.43 others(296): Show c.4308_*4309insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4220		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202444	C C	CCAGTACC others(278): Show CCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGA GCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCA GCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCA GTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0054 a0033c0054	a0033c0054t0003 a0033c0054t0003	a0033c0054t0003g0079 a0033c0054t0003g0079	1	308	0.0032	285	c.45 others(296): Show c.4597_*4598insCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCG AGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCC AGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCC AGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCT CCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTAC CCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGC G	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4509		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202493	C C	CCTCCAGC others(278): Show CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAG TACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCC AGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCC ATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03130.hp1 HG02895.hp1 HG03130.hp1	a0013 a0029 a0013 a0029	a0013c0028 a0029c0053 a0013c0028 a0029c0053	a0013c0028t0009 a0029c0053t0003 a0013c0028t0009 a0029c0053t0003	a0013c0028t0009g0052 a0029c0053t0003g0171 a0013c0028t0009g0052 a0029c0053t0003g0171	2	283	0.0071	285	c.46 others(296): Show c.4646_*4647insCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCC CAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCC TCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTA CCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAG T	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4558		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202516	G G	GAGCCCAG others(278): Show GAGCCCAGTACCCAGCCTCCGGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCC CAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCC TCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0087 a0003c0006t0003g0087	1	321	0.0031	285	c.46 others(296): Show c.4669_*4670insAGCCCAGTACCCAGCCTCCGGCCCAGTACCCAGC CCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCAA GCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACCCA GCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTC C	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4581		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202516	G G	GAGCCCAG others(278): Show GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCC CAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCC CCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCGCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0047 a0004c0004t0004g0047	1	321	0.0031	285	c.46 others(296): Show c.4669_*4670insAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGC CCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGT ACCCAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCA GCCCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCA GCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTC C	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4581		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202530	G G	GCCTCCAG others(278): Show GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTC TCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG00735.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	123	0.0163	285	c.46 others(296): Show c.4683_*4684insCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTAC CCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGTCTCCAGC CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATC CCCGAGCCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGA GCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA T	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4595		chr1	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(278): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGG CTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19004.hp1 NA19009.hp1 others(1): Show HG00609.hp2 NA19004.hp1 NA19009.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0139 a0001c0001t0002g0003 a0001c0001t0002g0139	4	71	0.0563	285	c.218 others(302): Show c.2182+106_2182+107insGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VIPR2_chr7_159023175_159149867	159063806	C C	CGGGGGTC others(278): Show CGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGGTCCGGGGGTCCTGG TGGGGTCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGGGG GTCCTGGTGGGGTCTGGGGGTCCTGGTGGAGTCTGGGGGTCCTGGTGGGG TCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGGGGGTCCT GGTGGGGTCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGG GGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0143 a0001c0003t0004g0143	1	267	0.0037	285	c.358 others(302): Show c.358-5229_358-5228insAGACCCCACCAGGACCCCCAGACCCCAC CAGGACCCCCGGACCCCACCAGGACCCCCAGACCCCACCAGGACCCCCAG ACCCCACCAGGACCCCCGGACCCCACCAGGACCCCCAGACCCCACCAGGA CCCCCAGACCCCACCAGGACCCCCAGACTCCACCAGGACCCCCAGACCCC ACCAGGACCCCCGGACCCCACCAGGACCCCCAGACCCCACCAGGACCCCC AGACCCCACCAGGACCCCCGGACCCCACCAGGCCCCCCAGACCCCACCAG GACCCCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159063878	G G	GGTCCGGG others(278): Show GGTCCGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGTC CTGGTGGAGTCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCT GGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGT GGGGTCTGGGGGTCCTGGTGGAGTCTGGGGGTCCTGGTGGGGTCTGGGGG TCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGT CTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	160	0.0063	285	c.358 others(302): Show c.358-5301_358-5300insTCCACCAGGACCCCCAGACCCCACCAGG ACCCCCAGACCCCACCAGGACCCCCGGACCCCACCAGGACCCCCGGACCC CACCAGGACCCCCAGACCCCACCAGGACCCCCAGACTCCACCAGGACCCC CAGACCCCACCAGGACCCCCAGACCCCACCAGGACCCCCGGACCCCACCA GGACCCCCAGACCCCACCAGGACCCCCAGACCCCACCAGGACCCCCAGAC TCCACCAGGACCCCCAGACCCCACCAGGACCCCCGGACCCCACCAGGACC CCCGGAC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS35_chr16_46651132_46694178	46675092	C C	CCTCAATT others(278): Show CCTCAATTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGGAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	174	0.0057	285	c.915 others(300): Show c.915-433_915-432insTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATGAA TTGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	8/16			chr16	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(278): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0041 a0003c0016t0001g0041	1	211	0.0047	285	c.200 others(302): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(278): Show CATATATATCATATATGATACATGTATCATATATGATACATGTATCATAT ATATGATACATGTATCATATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCATATATATGATACATATATATCAT ATATATGATACATATATATCATATATATGATACATATATATCATATATAT GATACATATATATCATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0324 a0001c0001t0001g0325	2	237	0.0084	285	c.856 others(302): Show c.856+1989_856+1990insATCATATATGATACATGTATCATATATG ATACATGTATCATATATATGATACATGTATCATATATATGATACATATAT ATCATATATATGATACATATATATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATATATCATATATATG ATACATATATATCATATATATGATACATATATATCATATATATGATACAT ATATATCATATATATGATACATATATATCATATATGATACATATATATCA TATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(278): Show CATATATATCATATATGATACATGTATCATATATGATACATGTATCATAT ATATGATACATGTATCATATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCATATATATGATACATATATATCAT ATATATGATACATATATATCATATATATGATACATATATATCATATATGA TACATATATATCATATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	236	0.0042	285	c.856 others(302): Show c.856+1989_856+1990insATCATATATGATACATGTATCATATATG ATACATGTATCATATATATGATACATGTATCATATATATGATACATATAT ATCATATATATGATACATATATATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATATATCATATATATG ATACATATATATCATATATATGATACATATATATCATATATATGATACAT ATATATCATATATGATACATATATATCATATATATGATACATATATATCA TATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(278): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	177	0.0056	285	c.483 others(300): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCC TCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(278): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0187 a0008c0007t0002g0187	1	177	0.0056	285	c.483 others(300): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(278): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	9	0.1111	285	c.917 others(304): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAGAGTACTCTTTTGAATAC TCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTT TTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTAC TCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF30_chr19_34921903_34950168	34923091	T T	TTGTTATG others(278): Show TTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01109.hp1 HG00639.hp1 HG00735.hp2 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0060 a0003c0003t0002g0002 a0003c0003t0002g0060	3	403	0.0074	285	c.-41 others(296): Show c.-4190_-4189insTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTAT ATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTA TATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTG TTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAAC A	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3811		chr19	TogoVar
ZNF554_chr19_2814868_2841735	2817689	G G	GACCAAGG others(278): Show GACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAG AGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACT AAGGTCAGAGCAGGTGACCAAGGGTGACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGT GACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAG AGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02145.hp2 others(13): Show HG01243.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02622.hp1 HG02647.hp2 HG02896.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0003c0010 a0005c0030	a0001c0001t0003 a0001c0001t0017 a0001c0003t0008 others(9): Show a0001c0001t0003 a0001c0001t0017 a0001c0003t0008 a0001c0003t0016 a0001c0003t0047 a0001c0003t0048 a0001c0003t0054 a0001c0008t0010 a0003c0010t0012 a0003c0010t0028 a0003c0010t0055 a0005c0030t0012	a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0017g0157 others(11): Show a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0017g0157 a0001c0003t0008g0041 a0001c0003t0008g0171 a0001c0003t0016g0160 a0001c0003t0047g0166 a0001c0003t0048g0172 a0001c0003t0054g0165 a0001c0008t0010g0159 a0003c0010t0012g0161 a0003c0010t0028g0022 a0003c0010t0055g0022 a0005c0030t0012g0143	16	408	0.0392	285	c.-23 others(296): Show c.-2383_-2382insACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGG TGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGGTGACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACAAGGGTGACT AAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGT T	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		2178		chr19	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(279): Show GAAAGAAAGAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAGAGAGAGAGAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	117	0.0085	286	c.-11 others(297): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAAAGAAGAAAGAAAGA AAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(279): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	262	0.0038	286	c.45 others(297): Show c.4528_*4529insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCA GGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGG AGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ADAP1_chr7_892900_959680	906109	A A	AAAGGAGA others(279): Show AAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGGAGA AGGGAGAAAGGAGAAAGGAGAAAGGAGAAGGGAGAAAGGAGAAAGGAGAA GGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGG GAAAGGAGAAAGGAGAAAGGAGAAAGGAGGAAAGGAGAAAGGGAAAGGAG AAAGGAGAAAGGAGAAAGGAGAAGGGAGAAGGGAGAAGGGAGAAAGGAGA AAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	10	0.1000	286	c.389 others(301): Show c.389-938_389-937insCCTTCTCCTTTCTCCTTCTCCTTTCTCCTT TCTCCTTTCTCCTTTCTCCCTTCTCCCTTCTCCCTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCCCTTTCTCCTTTCCTCCTTTCTCCTTTCTCCTTTC TCCTTTCCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCTCCTTTCTCC TTTCTCCTTCTCCTTTCTCCTTTCTCCCTTCTCCTTTCTCCTTTCTCCTT TCTCCCTTCTCCCTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADCY1_chr7_45569368_45728116	45611031	A A	AAAGTTGG others(279): Show AAAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGATAGTGGAGGTGTGG GGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGTGGAGGTGATAGT GGAGGTGCGGAGGTGATATTGGAGGTGTGGAGGTGGGAAGGTGATGGAGG TGGGGAGGTGATAATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTG ATAATGGAGGTATGGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAA GCATGGAGGTGATGGTGGAGGCGTGGAGGTGATGGCG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	15	0.0667	286	c.908 others(301): Show c.908+616_908+617insGGTGTGGAGGTGATAGTGGAGGTGCGGAGG TGATATTGGAGGTGTGGAGGTGGGAAGGTGATGGAGGTGGGGAGGTGATA ATGGAAGTATGGAGGTGATTTTGGAGGTGAGGAGGTGATAATGGAGGTAT GGAGGTGATGATGGAGGTGCGGGGGGTGATAGTGGAAGCATGGAGGTGAT GGTGGAGGCGTGGAGGTGATGGCGAAGTTGGAGAAGTGATGATGGAAGTG AGGAGGTGATAGTGGAGGTGTGGGGGTGATGGTGGAGGTGGGGAGGTGAT GGTGGA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(279): Show ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTCTACGTGTACACACATATACACGTAT ACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTACACACAT ATACACGTATACGTCTACGTGTACACACATATACACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	155	0.0065	286	c.48- others(303): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTCTACGTG TACACACATATACACGTATACGTCTACGTGTACACACATATACACGTATA CGTCTACGTGTACACACATATACACGTATACGTCTACGTGTACACACATA TACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK5_chr1_77277019_77564966	77367738	G G	GTTATATG others(279): Show GTTATATGTTATATATATGTTATATATATGTTATATATAATATATGTTAT ATATGTTATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAATATATGTTATATATTATATATAATATATGTTATATATTATATATAA TATATGTTATATATTATATATAATATATGTTATATATTATATATAACATA TGTTATATATTATATATAATATATGTTATATATTATATATAACATATGTT ATATATTATATATAACATATGTTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	273	0.0037	286	c.891 others(305): Show c.891+27185_891+27186insATGTTATATATATGTTATATATAATA TATGTTATATATGTTATATATGTTATATATTATATATAATATATGTTATA TATTATATATAATATATGTTATATATTATATATAATATATGTTATATATT ATATATAATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAACATATGTTATATATTATATATAATATATGTTATATATTATATATAA CATATGTTATATATTATATATAACATATGTTATATATATTATATATTATA TGTTATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANK3_chr10_60021298_60394875	60365093	T T	TAGATGCT others(279): Show TAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0108 a0005c0003t0002g0108	1	187	0.0053	286	c.114 others(305): Show c.114+24331_114+24332insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGAGCATCT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATGTA others(279): Show CGTATGTATACATATATGTATAAATACATACATATTTATACGTATATGTA TACATACATATTAATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATACATATTTATACATATA TATGTATAAATACATACATATTTATACATATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG03471.hp1 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0048 a0001c0001t0021g0073 a0001c0001t0021g0048 a0001c0001t0021g0073	2	222	0.0090	286	c.39 others(295): Show c.393_*394insGTATGTATACATATATGTATAAATACATACATATTT ATACGTATATGTATACATACATATTAATACATATATATGTATAAATACAT ACATATTTATACATATATATGTATAAATACATACATATTTATACATATAT ATGTATAAATACATACATATTTATACATATATATGTATAAATACATACAT ATTTATACATATATATGTATAAATACATACATATTTATACATATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(279): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGT GGGGGGAGGGGAGTGTGGGGGGGGGAGGGGGAGTGCGTGGGGGGGGGGAG TGGGGAGGGTGCGGGGGGTGGAGGGGAGTGCGGGTGGGGGGGGAGTGGGG GGGTGCGGGGGGGGTGGGGGGGGAGGGGGAGTGTGGGGGGTGAGGGGGAG GTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGGA GTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	8	0.1250	286	c.62 others(297): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGGAGGGGAGTGTGGGGGGAGGGGAGTGTGGGGGGGGGAGGGGGAGTG CGTGGGGGGGGGGAGTGGGGAGGGTGCGGGGGGTGGAGGGGAGTGCGGGT GGGGGGGGAGTGGGGGGGTGCGGGGGGGGTGGGGGGGGAGGGGGAGTGTG GGGGGTGAGGGGGAGGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTG TGGGGGAAGGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGT GT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(279): Show CGGGGGGAGGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGGGAGGGGAGT GTGGGGGGAGGGTGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGGGGAGGG GAGTGCGGGGGGGAGGGGGAGTGCGGGGGAAGGGGGGAGTGCGGGGGGGA GGGGGAGTGTGGGGGGGGGAGGGGGGGTGGAGTGCCGGGAGTGCGGGGGG GAGAGGGGGGAGTGCCAGGGGGAGCGGAGTGTGGGGGAAGGGGGGAGTGC GGGGGGGGAGCGGGGGCTGCCGAGGAGCGGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	8	0.1250	286	c.62 others(297): Show c.6299_*6300insGGGGGGAGGGGGGAGTGCGGGGGAGGGGGAGTGC GGGGGGGAGGGGAGTGTGGGGGGAGGGTGGAGTGCGGGGGGAGGGGGGAG TGCGGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCGGGGGAAGGGG GGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGGGAGGGGGGGTGGAGTGC CGGGAGTGCGGGGGGGAGAGGGGGGAGTGCCAGGGGGAGCGGAGTGTGGG GGAAGGGGGGAGTGCGGGGGGGGAGCGGGGGCTGCCGAGGAGCGGGGAGT GT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687072	C C	CGACCATT others(279): Show CGACCATTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCCGTGACCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	200	0.0050	286	c.-14 others(297): Show c.-1469_-1468insACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAATGG TC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1227		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(279): Show CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACC AGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACC ACGCACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCC CGTGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02004.hp1 NA18940.hp1 others(4): Show HG00408.hp1 HG02004.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp2 NA18980.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0002t0001g0032	7	215	0.0326	286	c.-21 others(297): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC AC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	97	0.0103	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19000.hp1 HG02074.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0122 a0001c0001t0001g0054 a0001c0001t0001g0122	2	98	0.0204	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02071.hp1 HG01981.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0107 a0001c0001t0001g0123	2	98	0.0204	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCGCGGCT GGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03831.hp1 NA18991.hp1 HG02602.hp1 HG03831.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129	3	99	0.0303	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCT GGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19006.hp1 HG01192.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	98	0.0204	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(279): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGCACGGC TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCT GGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp1 NA18967.hp1 HG00438.hp1 HG01169.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0126	3	99	0.0303	286	c.-14 others(301): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(279): Show CTCCCCCCTCCTCCCCCACTCCCCTCCCTCCCCCTCCCTCCCCCTCCACC CCTCCCCCTCACCCCTCCCCCCTCCCCCTCCCCCCTCCCACTCCCCACCC ACCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCC CCTCCACCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCTC CCCCTCCCCTCTCCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	72	0.0139	286	c.102 others(303): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCACTCCCCTCCCT CCCCCTCCCTCCCCCTCCACCCCTCCCCCTCACCCCTCCCCCCTCCCCCT CCCCCCTCCCACTCCCCACCCACCCCCTCCCCCCCTCCCCCTCCCCCTCC CCTCCCCCCCCACCCCCTCCCCCTCCACCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCCTCCCCTCTCCCCCTCCCCTCTCCCCTCTTCCCCTCTCC CTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(279): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGT AAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGA GAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGGAGAGAGGGAGGGTGGG GGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19068.hp1 HG02273.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0039 a0001c0001t0001g0046	2	6	0.3333	286	c.479 others(303): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCCTCCCCCTCCTTTCTCCCCC CTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCT CCCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCC CTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTCC CCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTC CCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(279): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGGAGAGGGAGAGAGGG AGGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGG TAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGG AGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGG GGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	5	0.2000	286	c.479 others(303): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCCC TCTCCCCCTCCCTCTCTCCCTCTCCCCCCTCCCTCCCTCTCTCCCCCTCC CCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTC CCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(279): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGGGAGAGAGGGAGGGGGAGAGGGAGGGAGG GAGAGAGGGAGAGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAGA GGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGG GAGGGGGGAGAAAGGAGGGAGGGGGAGAGGGGAGGGGAGAGAGGGAGGGT GGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	5	0.2000	286	c.479 others(303): Show c.479-3405_479-3404insTCTCCCCCCTCCCTCCCTCCCCCTCCCT CCCTCCCCCACCCTCCCTCTCTCCCCTCCCCTCTCCCCCTCCCTCCTTTC TCCCCCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCC CTCTCTCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCT CCCTCTCTCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCC CCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTC CCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(279): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGG AGGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGG TAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGG AGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGG GGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	5	0.2000	286	c.479 others(303): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCCC TCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCCTCC CCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTC CCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251666	A A	AGGGAGGC others(279): Show AGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGGGAGGGAGGGGGAGGGGGA GAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGAGGGGGAGAGGGAGGGAGG GGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGAGGGA GGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAGAA AGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGAGG GAGGGAGGGAGGGGGAGAGAGGGAGGGAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	356	0.0028	286	c.479 others(303): Show c.479-3423_479-3422insCTCCCTTCCTCCCTCCCTCTCTCCCCCT CCCTCCCTCCCTCCCCCTCCCTCCCTCCCCCACCCTCCCTCTCTCCCCCT CCCCCTCCTTTCTCCCCCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCT CTCTCCCCCTCCCTCTCTCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCT CCCTCTCCCCCTCCCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCC CTCCCTCTCTCCCCCTCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTC CGCCTCCC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP10B_chr5_160558120_160857211	160653981	T T	TATAAATA others(279): Show TATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTA TATATGTATATATATATATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATAAATATA TGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02809.hp2 others(2): Show HG01192.hp2 HG02280.hp2 HG02809.hp2 HG02970.hp1 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0003t0006 a0002c0004t0004 others(1): Show a0002c0003t0005 a0002c0003t0006 a0002c0004t0004 a0002c0004t0008	a0002c0003t0005g0192 a0002c0003t0005g0214 a0002c0003t0006g0220 others(2): Show a0002c0003t0005g0192 a0002c0003t0005g0214 a0002c0003t0006g0220 a0002c0004t0004g0187 a0002c0004t0008g0221	5	234	0.0214	286	c.676 others(303): Show c.676-4726_676-4725insGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATAGTA TATACGTATATACAACATATATTTATATATGTATATACGTATATACAACA TATATTTATATATGTATATACGTATATACAACATATATTTATATATATAT ATACATATATACAACATATATTTATATATGTATATACGTATATACAACAT ATATTTAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(279): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCC CCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	5	0.2000	286	c.39+ others(303): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCCCCCACCCCCACCCCCTACCCC CCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCAC CTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707189	A A	ATATTATA others(279): Show ATATTATATATAATATTATATATAATATAATATATATTATATAATATATT ATATTATATATAATATTATATATAATATAATATATATTATATAATATAAT ATATTATATATAATATATTATATTATATATAATATTATATATAATATAAT ATATATTATATAATATATTATATATAATATATTATATTATATATAATATT ATATAATATAATATATTATATATAATATAATATATTATATATTATATATT ATATTATATATAATATATTATATTATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03516.hp2 HG01891.hp1 HG02976.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0037 a0001c0001 a0003c0037	a0001c0001t0002 a0001c0001t0014 a0003c0037t0009 a0001c0001t0002 a0001c0001t0014 a0003c0037t0009	a0001c0001t0002g0030 a0001c0001t0014g0376 a0003c0037t0009g0345 a0001c0001t0002g0030 a0001c0001t0014g0376 a0003c0037t0009g0345	3	321	0.0093	286	c.243 others(303): Show c.2430-473_2430-472insATATATTCTATATAATATAATATATTAT ATATAATATAATATATAATATATAATATATTATATTATATATAATATATT ATATTATATAATATTATATATAATATAATATATTATATATAATATATTAT ATAATATATATTATATTATATATAATATTATATATAATATAATATATTAT ATATAATATATTATATTATATAATATATATTATATTATATATAATATTAT ATATAATATAATATATTATATAATATATATTATATTATATATAATATTAT ATATAATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(279): Show GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC GGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	267	0.0037	286	c.36 others(297): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(279): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGT GGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGC TGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01515.hp1 others(3): Show HG00140.hp1 HG01081.hp1 HG01515.hp1 HG02683.hp2 HG03239.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014	a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0002t0001g0053 others(3): Show a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0002g0132 a0001c0002t0014g0008 a0001c0002t0014g0009	6	46	0.1304	286	c.487 others(301): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCATCACCACAAAGTACCATG ACCACCAGCACCATCACTACCACCACCACCACCATCACCACCACCACCAT TACCACCACCATCACTACCACCACCACCATCACCACCAGTACCATCACCA CCACCACCATCACTACCACCACCACCACCACCACCACCACCATTACCACC ACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACTACCAC CATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BSND_chr1_54993933_55022172	55002966	G G	GGTGATGG others(279): Show GGTGATGGTGATAATGATGGTGAGGATGGTGATGGTGACAATGGTGATGA TGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGATGCTGATGA TGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATAGTGATGATG ATAATAGTGATAATGATGGTGAGGATGGTGATGGTGACAATGGTGATGAT GATGATGATGATAGTGATGATGATGGTGATTAGGAGATGGTGATGATGAG GATGGTGATGGTGAGAATGGTAATGGTGATGATAATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0261 a0001c0001t0261	a0001c0001t0261g0097 a0001c0001t0261g0097	1	446	0.0022	286	c.178 others(303): Show c.178-2050_178-2049insGTGATAATGATGGTGAGGATGGTGATGG TGACAATGGTGATGATGATGATGATGATGATAGTGATGATGATGGTGATT AGGAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATG ATAATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGT GACAATGGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGA GATGGTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAA TAGTGATG	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(279): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	164	0.0122	286	c.431 others(303): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar

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