Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(479): Show TTATATCATCATATGATGATATAATAGTATATCATCATATGATGATATAA TAGTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGATACT ATATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGATA CTATATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0048 a0002c0003t0048	a0002c0003t0048g0002 a0002c0003t0048g0002	1	98	0.0102	486	c.41- others(503): Show c.41-49397_41-49396insAATAGTATATCATCATATGATGATATAA TAGTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGATACT ATATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGATA CTATATCATCATATGGTGATATGATACTATATCATCATATGGTGATATGA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(479): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATATAA CATGATGATATGATACTATATCATCATATAACATGATGATATGATACTAT ATCATCATATAACATGATGATATGATACTATATCATCATATAACATGATG ATATGATACTATATCATCATATAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0048 a0001c0001t0012g0048	1	87	0.0115	486	c.41- others(503): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATATAA CATGATGATATGATACTATATCATCATATAACATGATGATATGATACTAT ATCATCATATAACATGATGATATGATACTATATCATCATATAACATGATG ATATGATACTATATCATCATATAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0076 a0002c0010t0002g0076	1	8	0.1250	486	c.657 others(501): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCC TTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	8	0.1250	486	c.657 others(501): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	8	0.1250	486	c.657 others(501): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(479): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0004 a0003c0003t0008g0004	1	184	0.0054	486	c.71 others(495): Show c.713_*714insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(479): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTC TCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCT CTCCTCCCCCTCTCCCCTCCCCCTCTCCCTCCCCCTCTCCTCTCCCCCTC CCCCTGTCCCCCTCCTCTCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCTCCCCCTCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCT CCCCTCCCCCTCCCCCTTTCCCCCCTCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0017 a0003c0003t0011g0017	1	33	0.0303	486	c.53- others(499): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTC CCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCTCCCCCTCTCCTCTC CCCCTCCCCCTGTCCCCCTCCTCTCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCTCTCCCCTCCCCCTCCCCCTTTCCCCCCTCCCTTCCCCTCCCTCTCC CCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(479): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	33	0.0303	486	c.53- others(499): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCC CCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675062	T T	TCCTCCTT others(479): Show TCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTT CCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCC CTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	118	0.0085	486	c.483 others(501): Show c.483+337_483+338insCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCT CCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTC others(479): Show CCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC TTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19007.hp1 NA18955.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0180 a0001c0002t0002g0179 a0001c0001t0001g0180 a0001c0002t0002g0179	2	26	0.0769	486	c.483 others(501): Show c.483+381_483+382insTCCCTCCCTCCCTCCTTCCTCCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT TCTTCC	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(479): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	9	0.1111	486	c.917 others(505): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(479): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	9	0.1111	486	c.917 others(505): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(479): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02735.hp2 NA19074.hp2 HG01884.hp2 HG02735.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0185 a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0185	3	11	0.2727	486	c.917 others(505): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(479): Show TATATATATTATATATATATATATAATATATATATATTATATATATATAA TATATATATATTATATATATATATATTATATATAATATATATATATTATA TATATATATAATATATATAATATATATATAATATATATATTATATATATA TTATATATATTATATATATTATATATATATTATATATATTATATATATAT AATATATATAATATATATATAATATATATTATATATATAATATATATATA TTATATATATAATATATATATTTAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTAATATATATTATATATATAATATATA TATTATATATATAATATATATATAATATATATATTATATATATAATATAT ATATTATATATATATAATATATATATTTAATATATATATTATATATATAA TATATATTATATATATAATATATATATTTAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0017 a0003c0004t0001g0017	1	322	0.0031	486	c.39 others(497): Show c.3902_*3903insTATATATTAAATATATATATTATATATATAATAT ATATTATATATATAATATATATATTAAATATATATATTATATATATATAA TATATATATTATATATATAATATATATATTATATATATATTATATATATA ATATATATATTATATATATAATATATATTAAATATATATATTATATATAT AATATATATTATATATATAATATATATATTAAATATATATATTATATATA TAATATATATATATTATATATATAATATATATTATATATATATTATATAT ATTATATATATATAATATATATAATATATATATAATATATATAATATATA TAATATATATATAATATATATATTATATATATATTATATATATTATATAT ATATATAATATATATATATTATATATAATATATATATATATAATATATAT ATATTATATATATATAATATATATATATTATATATATATATATAATATAT AT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
XXYLT1_chr3_195063284_195276159	195103442	C C	CGCCAGCG others(479): Show CGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCAC CCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCA TCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCG TCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCC TGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGC GGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGC CAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCC ACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCA CCCCACGCCAGCGGCCTGCGTCCATCACCTCACGCCAGCGGCCTGCGTCC ATCACCCCACGCCAGCGGCCTGCGTCCATCACCTCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00408.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0139 a0001c0001t0003g0111 a0001c0001t0002g0139 a0001c0001t0003g0111	2	187	0.0107	486	c.786 others(505): Show c.786-33332_786-33331insATGAGGTGATGGACGCAGGCCGCTGG CGTGGGGTGATGGACGCAGGCCGCTGGCGTGAGGTGATGGACGCAGGCCG CTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAG GCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGAC GCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGAT GGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGG TGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGT GGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTG GCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCC GCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCA GGCCGCTGGC	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(479): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACATATATCATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATGATAT ATATCATATATATCACATATATCATATATATCATATATATCACATATATG ATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	193	0.0052	486	c.-36 others(497): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ATATATCATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATGATATATATCATATATATCACATATATCATATATATCATA TATATCACATATATGATATATATATCATATATATCACATATATGATATAT AT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319289	C C	CATACATA others(479): Show CATACATATATACATATATACATATACATACATATACATACATATATACA TATACATACATATACATACATATATATACATATATACATATACATACATA TATACATATATATACATATACATACATATATATACATATATATACATATA CATACATATATATACATATATATACATATACATACATATATACATATATA TACATATACATACATATACATACATATATACATATACATATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATATACATATATATACATA TATACATATATATACATATACATACATATATACATATATACACATATACA TACATATATACATATATATACATATACATACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	453	0.0022	486	c.-15 others(497): Show c.-1565_-1564insATACATATATACATATATACATATACATACATAT ACATACATATATACATATACATACATATACATACATATATATACATATAT ACATATACATACATATATACATATATATACATATACATACATATATATAC ATATATATACATATACATACATATATATACATATATATACATATACATAC ATATATACATATATATACATATACATACATATACATACATATATACATAT ACATATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAT ACATATATATACATATATACATATATATACATATACATACATATATACAT ATATACACATATACATACATATATACATATATATACATATACATACATAT AT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1182		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(480): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	487	c.-10 others(498): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATAAAT TTTTATATATTTATATTTATGATATATAAATATAAATTTTTATATATTTA TAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(480): Show TATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGC TCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACAC CCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCC GGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTATCC CAGCTCTAACACCCCATATCCCGGCTCTAACCCTCCTATCCCGGCTCTTA ACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCTA TCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCT AACACCCTTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCT ATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01169.hp1 others(10): Show HG00423.hp1 HG00609.hp2 HG01169.hp1 HG01257.hp1 HG02040.hp2 HG02293.hp1 HG02451.hp1 HG03041.hp2 HG03654.hp2 HG04115.hp1 NA18975.hp1 NA18984.hp2 NA19065.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0021 a0002c0001 others(6): Show a0001c0002 a0001c0021 a0002c0001 a0002c0056 a0003c0009 a0003c0012 a0004c0028 a0004c0068 a0005c0032	a0001c0002t0005 a0001c0021t0006 a0002c0001t0005 others(10): Show a0001c0002t0005 a0001c0021t0006 a0002c0001t0005 a0002c0001t0036 a0002c0001t0054 a0002c0056t0022 a0003c0009t0003 a0003c0012t0001 a0003c0012t0003 a0003c0012t0044 a0004c0028t0001 a0004c0068t0001 a0005c0032t0053	a0001c0002t0005g0158 a0001c0021t0006g0171 a0002c0001t0005g0154 others(10): Show a0001c0002t0005g0158 a0001c0021t0006g0171 a0002c0001t0005g0154 a0002c0001t0036g0003 a0002c0001t0054g0087 a0002c0056t0022g0073 a0003c0009t0003g0043 a0003c0012t0001g0189 a0003c0012t0003g0038 a0003c0012t0044g0078 a0004c0028t0001g0147 a0004c0068t0001g0120 a0005c0032t0053g0060	13	95	0.1368	487	c.213 others(506): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGG GATAAGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGG TTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGG GTGTTAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAG CCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGG ACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGA GCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGAT AGGAGGGTTAGAGCCGGGATAGGGGGTGTTAGAGCCGGGATAGGGGTGTT AGAGCCGGGAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(480): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATACTATATATATTCTATATACAGAATATAT ATACTATATATATTCTATATACAGAATATATATACTATATATTCTATATA CTATATATTCTATATATACTATAGATATACTATATATAGTATATCTATAT ATAGATATATAGATATACTATATTCTATATACTATATATATTCTGTATAT AGAATATATATACTATATATATTCTGTATATAGAATATATATACTATATA TATTCTGTATATAGAATATATATACTATATATATTCTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	57	0.0175	487	c.409 others(506): Show c.409+15133_409+15134insCAGAATATATATAGTATATATATTCT ATATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAG TATATATATTCTATATACAGAATATATATAGTATATAGAATATAGTATAT CTATATATCTATATATAGATATACTATATATAGTATATCTATAGTATATA TAGAATATATAGTATATAGAATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(480): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATATAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT ATACTATATATATTCTATATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATTCTATATACTATATATTCTATATATAC TATAGATATACTATATATAGTATATCTATATATAGATATATAGATATACT ATATTCTATATACTATATATATTCTGTATATAGAATATATATACTATATA TATTCTGTATATAGAATATATATACTATATATATTCTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0042 a0010c0021t0001g0042	1	57	0.0175	487	c.409 others(506): Show c.409+15133_409+15134insCAGAATATATATAGTATATATATTCT ATATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAG TATATAGAATATAGTATATCTATATATCTATATATAGATATACTATATAT AGTATATCTATAGTATATATAGAATATATAGTATATAGAATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATACAGAATATATATACTATATATATT CTGTATATAGAATATATATAGTATATATATTCTATATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(480): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGG GAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	183	0.0055	487	c.125 others(508): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCC TCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTT TCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCC TCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCC TCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(480): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGGAGGGGGGGAGGA GGAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGG GAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	183	0.0055	487	c.125 others(508): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCCTCCCCCTCCTCCCCCTCC TCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTT TCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCC TCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCC TCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(480): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGG GGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGG GGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGG GAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02451.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	138	0.0145	487	c.248 others(502): Show c.2483+67_2483+68insCCCTCGCCTCCCCCTCCCCCTCCCCTCGCC TTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCT TCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCT CACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCC TCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACC CTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCA CTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCC TCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCC CTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTC ACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCC TCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(480): Show GAGGGGAAGGAAAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAG GCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAG GCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	248	0.0040	487	c.838 others(502): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTTTCC TTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(480): Show ACCCATATAGACCACAACACACATCACACACACACTATACCCACCTCACA CACACCACACACATCATACCCACCTCACACACACCACATACCCTATACAC ACCACACACCATACACATACCGCATACACACCACACACCACACACATACC CCATATATACCACACACCACACACATACCCCATACACACCACACACCACA CATACCCCATGTATACCACACACCACACACATACCCCATACACACCACAC ACCACACATACCCCATATATACCACACACCACACACACACCCCATATATT ACCACACACCACAAACATAGCCCAACACACCACACACCACACATACCCCA TATATACCACACACCACACACATACCCCATACACACACACACCACACATA CCCCATATATACCACACACCACACACATACCCCATACATACCACACACCA CACACATACCCCATACACACCACACACCACACACATAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	161	0.0062	487	c.-20 others(506): Show c.-204-6504_-204-6503insGACCACAACACACATCACACACACAC TATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACC ACATACCCTATACACACCACACACCATACACATACCGCATACACACCACA CACCACACACATACCCCATATATACCACACACCACACACATACCCCATAC ACACCACACACCACACATACCCCATGTATACCACACACCACACACATACC CCATACACACCACACACCACACATACCCCATATATACCACACACCACACA CACACCCCATATATTACCACACACCACAAACATAGCCCAACACACCACAC ACCACACATACCCCATATATACCACACACCACACACATACCCCATACACA CACACACCACACATACCCCATATATACCACACACCACACACATACCCCAT ACATACCACACACCACACACATACCCCATACACACCACACACCACACACA TACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(480): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACACACCACACACATACCC CATATATACCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACACACCCCATATATAC CACACACCACAAACATAGCCCATACACACCACACACCACACATACCCCAT ATATACCACACACCACACACATACCCCATACACACCACACACCACACATA CCCCATATACACCACACACCACACACATACCCCATACATACCACACACCA CACACATACCCCATACACACCACACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02717.hp2 others(5): Show HG02258.hp2 HG02622.hp1 HG02717.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp2 HG06807.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0003 a0001c0001t0025 a0002c0002t0003 others(5): Show a0001c0001t0003 a0001c0001t0025 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0023 a0002c0003t0013	a0001c0001t0003g0173 a0001c0001t0025g0071 a0002c0002t0003g0174 others(5): Show a0001c0001t0003g0173 a0001c0001t0025g0071 a0002c0002t0003g0174 a0002c0002t0004g0089 a0002c0002t0006g0093 a0002c0002t0009g0176 a0002c0002t0023g0028 a0002c0003t0013g0029	8	168	0.0476	487	c.-20 others(506): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACAC ACCACACACATACCCCATATATACCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCCATATATACCACACACCACACAC ACACCCCATATATACCACACACCACAAACATAGCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACATACCCCATACACAC CACACACCACACATACCCCATATACACCACACACCACACACATACCCCAT ACATACCACACACCACACACATACCCCATACACACCACACACCACACACA TACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(480): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACACACCACACACATACCC CATATATACCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCCATGTATACCACACACCACACACACACCCCATATATAC CACACACCACAAACATAGCCCATACACACCACACACCACACATACCCCAT ATATACCACACACCACACACATACCCCATACACACCACACACCACACATA CCCCATATATACCACACACCACACACATACCCCATACATACCACACACCA CACACATACCCCATACACACCACACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG01891.hp1 others(10): Show HG01081.hp2 HG01884.hp2 HG01891.hp1 HG02622.hp2 HG02630.hp2 HG03130.hp2 HG03209.hp2 NA18522.hp2 NA18906.hp1 NA18956.hp1 NA19002.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0017	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0003t0012 a0002c0017t0034	a0001c0001t0003g0104 a0001c0001t0004g0065 a0001c0001t0005g0077 others(10): Show a0001c0001t0003g0104 a0001c0001t0004g0065 a0001c0001t0005g0077 a0001c0001t0006g0160 a0001c0001t0008g0105 a0002c0002t0006g0098 a0002c0002t0006g0161 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0002t0011g0110 a0002c0003t0012g0092 a0002c0017t0034g0177	13	173	0.0751	487	c.-20 others(506): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACAC ACCACACACATACCCCATATATACCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCCATGTATACCACACACCACACAC ACACCCCATATATACCACACACCACAAACATAGCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACATACCCCATACACAC CACACACCACACATACCCCATATATACCACACACCACACACATACCCCAT ACATACCACACACCACACACATACCCCATACACACCACACACCACACACA TACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(480): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACACACCACACACATACCC CATATATGCCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACACACCCCATATATAC CACACACCACAAACATAGCCCATACACACCACACACCACACATACCCCAT ATATACCACACACCACACACATACCCCATACACACCACACACCACACATA CCCCATATATACCACACACCACACACATACCCCATACATACCACACACCA CACACATACCCCATACACACCACACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	161	0.0062	487	c.-20 others(506): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACAC ACCACACACATACCCCATATATGCCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCCATATATACCACACACCACACAC ACACCCCATATATACCACACACCACAAACATAGCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACATACCCCATACACAC CACACACCACACATACCCCATATATACCACACACCACACACATACCCCAT ACATACCACACACCACACACATACCCCATACACACCACACACCACACACA TACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28915128	A A	ACCCATAT others(480): Show ACCCATATAGACCACACACACATCACACACACACTATACCCACCTCACAC ACACCACACACATCATACCCACCTCACACACACCACATACCCTATACACA CCACACACCATACACATACCGCATACACACCACTCACCACACACATACCC CATATATACCACACACCACACACATACCCCATACACACCACACACCACAC ATACCCCATGTATACCACACACCACACACATACCCCATACACACCACACA CCACACATACCCTATATATACCACACACCACACACACACCCCATATATAC CACACACCACAAACATAGCCCATACACACCACACACCACACATACCCCAT ATATACCACACACCACACACATACCCCATACACACCACACACCACACATA CCCCATATATACCACACACCACACACATACCCCATACATACCACACACCA CACACATACCCCATACACACCACACACCACACACATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0199 a0001c0001t0012g0199	1	161	0.0062	487	c.-20 others(506): Show c.-204-6504_-204-6503insGACCACACACACATCACACACACACT ATACCCACCTCACACACACCACACACATCATACCCACCTCACACACACCA CATACCCTATACACACCACACACCATACACATACCGCATACACACCACTC ACCACACACATACCCCATATATACCACACACCACACACATACCCCATACA CACCACACACCACACATACCCCATGTATACCACACACCACACACATACCC CATACACACCACACACCACACATACCCTATATATACCACACACCACACAC ACACCCCATATATACCACACACCACAAACATAGCCCATACACACCACACA CCACACATACCCCATATATACCACACACCACACACATACCCCATACACAC CACACACCACACATACCCCATATATACCACACACCACACACATACCCCAT ACATACCACACACCACACACATACCCCATACACACCACACACCACACACA TACCCCATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(480): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCG CCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCC GGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTC CGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGCCCTGTTCTCCGTCC CCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGAC CCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0001 a0003c0004t0008g0002 a0003c0004t0008g0094 a0003c0004t0008g0001 a0003c0004t0008g0002 a0003c0004t0008g0094	3	4	0.7500	487	c.276 others(506): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCT GCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCC CCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCC TCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGC CTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCG TCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCC GGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCC TCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(480): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	2	0.5000	487	c.-14 others(502): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCC CTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758764	T T	TCACCTGC others(480): Show TCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	170	0.0059	487	c.654 others(506): Show c.654+22254_654+22255insGTCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82971620	A A	ACAGGGGC others(480): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACGGGCCAGAAGGACCCGGTACTGACCACACCACA CCACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGACCTGGA GCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCACGGGCCAGAAGGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0081 a0001c0012t0001g0081	1	256	0.0039	487	c.460 others(504): Show c.460-5875_460-5874insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCTCCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTG GCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCAC CAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGG TGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTA CCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTC TGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(480): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTCCCCCC ACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACTCCTCCCCCACTCCT TCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCC TCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	198	0.0051	487	c.178 others(502): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGT GGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGGAGTGGGGGG AGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGA GGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGG AAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGG GAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAG TCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAG GGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(480): Show GCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGG CCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGC AGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAA GAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0016 a0001c0044t0016	a0001c0044t0016g0106 a0001c0044t0016g0106	1	136	0.0074	487	c.49 others(498): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAG CAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCC CCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCC CTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGA GCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCA TGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(480): Show ACACACACACATACAGACACAACCACACACACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACATACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACTCACATACAGACACAACCACACCACACACACACACT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	316	0.0032	487	c.193 others(504): Show c.1938+733_1938+734insCACACATACAGACACAACCACACACACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACACAC ACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(480): Show ACACACACTCACATACAGACACAACCACACCACACTCACACATACACACT CACATACAGACACAACCACACCACACTCACACACACACATACACACTCAC ATACAGACACAACCACACCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACATACACACTCACATACAGACACAACC ACACCACACACACACATACACACTCACATACAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	316	0.0032	487	c.193 others(504): Show c.1938+733_1938+734insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACACACACACATACACACTCACATACAGACACAACCACACCACACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(480): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCC CTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18948.hp2 NA18956.hp1 others(4): Show HG01070.hp2 NA18948.hp2 NA18956.hp1 NA18962.hp1 NA18984.hp2 NA19004.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0013 a0001c0003 a0001c0004 a0001c0013	a0001c0003t0001 a0001c0004t0003 a0001c0013t0003 a0001c0003t0001 a0001c0004t0003 a0001c0013t0003	a0001c0003t0001g0297 a0001c0004t0003g0296 a0001c0004t0003g0377 others(4): Show a0001c0003t0001g0297 a0001c0004t0003g0296 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0013t0003g0076 a0001c0013t0003g0333 a0001c0013t0003g0334	7	382	0.0183	487	c.-22 others(504): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(480): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAA TATTTATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTT ATTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	92	0.0109	487	c.80- others(502): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATA TAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(480): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCC TCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	2	0.5000	487	c.162 others(508): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTC CCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCA CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(480): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG03041.hp2 others(2): Show HG02109.hp1 HG02647.hp1 HG03041.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0009 a0001c0008t0001 a0001c0001t0009 a0001c0008t0001	a0001c0001t0009g0144 a0001c0001t0009g0151 a0001c0001t0009g0152 others(2): Show a0001c0001t0009g0144 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0009g0170 a0001c0008t0001g0005	5	8	0.6250	487	c.267 others(504): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATCATATATATTCATATATA TATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921003	T T	TTCATATA others(480): Show TTCATATATATGATATATATCATATATACATATGATATATACATGATATA TATGATATATATGATATATATGATATATATATGATATATATGATACATAT GATATATATGATATATATATGATACAAATGATATATATGATATATATGAT ATATATCAGATATATATATCATATATATCATATATATCATTTGTATCATA TATATATCATATATATCATATGTATCATATATATCATGTATATATCATAT ATATCATATATATCATATATGTATTCATATATATCATATATATTCATATA TCATATATATTCATATATATCATATATTCATATATATCATATATATTCAT ATATATCATATATTCATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATCATATATATTCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	174	0.0057	487	c.267 others(504): Show c.267-6906_267-6905insTCATATATATGATATATATCATATATAC ATATGATATATACATGATATATATGATATATATGATATATATGATATATA TATGATATATATGATACATATGATATATATGATATATATATGATACAAAT GATATATATGATATATATGATATATATCAGATATATATATCATATATATC ATATATATCATTTGTATCATATATATATCATATATATCATATGTATCATA TATATCATGTATATATCATATATATCATATATATCATATATGTATTCATA TATATCATATATATTCATATATCATATATATTCATATATATCATATATTC ATATATATCATATATATTCATATATATCATATATTCATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATCAT ATATATTCA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(480): Show GCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCC CCACCCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC CACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCACCCCCACCCTCACCCCCACCCTCACCCTCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0048 a0018c0048	a0018c0048t0002 a0018c0048t0002	a0018c0048t0002g0145 a0018c0048t0002g0145	1	86	0.0116	487	c.39 others(498): Show c.3972_*3973insAGGGTGAGGGTGAGGGTGGGGGTGAGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTGGGGGTGCGGGTGCGG GTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGG GTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACACA others(480): Show CATACACACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATACATGTATATATACACATATATACATACATGTATATATA CACATATATACATACATGTATATATACACATATATACATACATGTATATA TACACATATATACATACATGTATATATACACATATATACATACATGTATA TATACACATATATACATACATGTATATATACACATATATACATACATGTA TATATACACATATATACATACATGTATATATACACATATATACATACATG TATATATACACATATATACATACATGTATATATACACATATATACATACA TGTATATATACACATATATACATATATGTATATATACACATATATACATA TATGTATATATACACATATATACATATACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0070 a0001c0004t0036g0070	1	64	0.0156	487	c.-15 others(508): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATGTATGTATATATGTGTATATATACATGTATGTATA TATGTGTATATATACATGTATGTATATATGTGTATATATACATGTATGTA TATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATA CATGTATGTATATATGTGTATATATACATGTATGTATATATGTGTATATA TACATGTGTGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DNAH12_chr3_57288700_57549344	57448752	A A	AGCTCTCC others(480): Show AGCTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTATGGACACAAA GGTTCTCCAAAGCCCCACCAGAGTAGCTAGATACAGAGTGTTGATTGGTG CACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAA ACCTTGAGCTAGATACAGAGTGCCGATTGGTGTATTTACAACCCTGAGCT AGACATAAAGGTTCTCCAAGGCCCCACCAGAGCAGCTAGATACAGAGTGT TGATTGGTGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTG TGTTTACAAACCTTGAGCTAGATACAGAGTGCCGATTGGTGTATTTACAA CCCTGAGCTAGACATAAAGGTTTTCCAAGGCCCCACCAGAGCAGCTAGAT ACAGAGTGTTGATTGGTGCACTCACAAACCTTGAGCTAAACACAGGGTGC TGATTGGTGTATTTACAATCCCTGAGCTAGACATAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 HG02717.hp1 others(7): Show HG01109.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp1 HG03471.hp1 NA19240.hp1	a0013 a0017 a0021 others(2): Show a0013 a0017 a0021 a0051 a0070	a0013c0010 a0017c0009 a0021c0019 others(2): Show a0013c0010 a0017c0009 a0021c0019 a0051c0039 a0070c0051	a0013c0010t0002 a0017c0009t0001 a0021c0019t0001 others(2): Show a0013c0010t0002 a0017c0009t0001 a0021c0019t0001 a0051c0039t0001 a0070c0051t0001	a0013c0010t0002g0253 a0013c0010t0002g0259 a0013c0010t0002g0260 others(7): Show a0013c0010t0002g0253 a0013c0010t0002g0259 a0013c0010t0002g0260 a0017c0009t0001g0111 a0017c0009t0001g0115 a0017c0009t0001g0116 a0021c0019t0001g0005 a0021c0019t0001g0113 a0051c0039t0001g0062 a0070c0051t0001g0258	10	172	0.0581	487	c.378 others(506): Show c.3787-2064_3787-2063insCTTTATGTCTAGCTCAGGGATTGTAA ATACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAA TCAACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAAAACCTTTATG TCTAGCTCAGGGTTGTAAATACACCAATCGGCACTCTGTATCTAGCTCAA GGTTTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGA GTGCACCAATCAACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGA ACCTTTATGTCTAGCTCAGGGTTGTAAATACACCAATCGGCACTCTGTAT CTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCAA GGTTTGTGAGTGCACCAATCAACACTCTGTATCTAGCTACTCTGGTGGGG CTTTGGAGAACCTTTGTGTCCATACTCTGTATCTAACTAATCTGATGGGG ACGTGGAGAGC	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	25/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57448881	T T	AGCTGATT others(480): Show AGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCGATTG GTGTATTTACAACCCTGAGCTAGACATAAAGGTTCTCCAAGGCCCCACCA GAGCAGCTAGATACAGAGTGTTGATTGGTGCACTCACAAACCTTGAGCTA AACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAG TGCCGATTGGTGTATTTACAACCCTGAGCTAGACATAAAGGTTTTCCAAG GCCCCACCAGAGCAGCTAGATACAGAGTGTTGATTGGTGCACTCACAAAC CTTGAGCTAAACACAGGGTGCTGATTGGTGTATTTACAATCCCTGAGCTA GACATAAAGGCTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTATG GACACAAAGGTTCTCCAAAGCCCCACCAGAGTAGCTAGATACAGAGTGTT GATTGGTGCACTCACAAACCTTGAGCTAAACACAGGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp1 HG01358.hp2 others(23): Show HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG03195.hp1 HG03239.hp2 HG03492.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18981.hp2 NA18982.hp1 NA19005.hp2 NA19007.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA21309.hp2	a0004 a0014 a0027 others(4): Show a0004 a0014 a0027 a0041 a0060 a0061 a0068	a0004c0004 a0014c0011 a0027c0021 others(4): Show a0004c0004 a0014c0011 a0027c0021 a0041c0073 a0060c0070 a0061c0071 a0068c0065	a0004c0004t0001 a0014c0011t0001 a0027c0021t0001 others(4): Show a0004c0004t0001 a0014c0011t0001 a0027c0021t0001 a0041c0073t0001 a0060c0070t0001 a0061c0071t0001 a0068c0065t0001	a0004c0004t0001g0038 a0004c0004t0001g0040 a0004c0004t0001g0067 others(23): Show a0004c0004t0001g0038 a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0072 a0004c0004t0001g0073 a0004c0004t0001g0074 a0004c0004t0001g0089 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0261 a0014c0011t0001g0065 a0014c0011t0001g0071 a0014c0011t0001g0090 a0027c0021t0001g0092 a0027c0021t0001g0098 a0041c0073t0001g0075 a0060c0070t0001g0096 a0061c0071t0001g0070 a0068c0065t0001g0097	26	264	0.0985	487	c.378 others(506): Show c.3787-2192_3787-2191insCCCTGTGTTTAGCTCAAGGTTTGTGA GTGCACCAATCAACACTCTGTATCTAGCTACTCTGGTGGGGCTTTGGAGA ACCTTTGTGTCCATACTCTGTATCTAACTAATCTGATGGGGACGTGGAGA GCCTTTATGTCTAGCTCAGGGATTGTAAATACACCAATCAGCACCCTGTG TTTAGCTCAAGGTTTGTGAGTGCACCAATCAACACTCTGTATCTAGCTGC TCTGGTGGGGCCTTGGAAAACCTTTATGTCTAGCTCAGGGTTGTAAATAC ACCAATCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCAG CACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAATCAACACTCTGTA TCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTTTATGTCTAGCTCAGGGT TGTAAATACACCAATCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACAC ACCAATCAGCT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	25/73			chr3	TogoVar
DNM2_chr19_10713079_10836903	10758467	C C	CTCCTTCC others(480): Show CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCT TCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03942.hp2 HG02738.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0162 a0001c0002t0002g0163 a0001c0002t0001g0162 a0001c0002t0002g0163	2	265	0.0075	487	c.162 others(504): Show c.162-1268_162-1267insTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTC CTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTC CTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DYNC2I1_chr7_158851558_158951189	158917048	G G	GTCGCTGG others(480): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTGAAACCTC TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATCAAGGATGATTGTGAAACCTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTGG TTGACGTTAAGGATGATTGTGAAACCTCGACACGGTGGTTGACATTAAGG ATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGAAACG TCGACACGCTGGTTGACATTAAGGATGATTGTGAAACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	175	0.0057	487	c.179 others(506): Show c.1792-1689_1792-1688insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACA TTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATT GTGAAACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGA CACGGTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGAAACGTCGACACGCTGGTTGACATTAAGGATGATT GTGAAACCTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXD3_chr9_137301896_137428162	137355694	G G	GAGGAAGG others(480): Show GAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGG AGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGA AGGAGGAAGGAGGATGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGG AGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0055 a0012c0011t0001g0055	1	77	0.0130	487	c.757 others(502): Show c.757+573_757+574insTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCATCCTCC TTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCTCC TTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTTCTCCTTCCT CCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCT CCTTCCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar

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