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
B4GALNT4_chr11_364499_387117	374700	G G	GGGAAGGG others(443): Show GGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	184	0.0054	450	c.784 others(465): Show c.784-747_784-746insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(443): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	344	0.0029	450	c.84+ others(465): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BOP1_chr8_144257045_144296438	144280973	A A	AATACCAG others(443): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGT CTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTT CATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCAGTTTAATACCAGGTCTTAGGCCTTCCCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGT CTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTT C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03130.hp2 HG02109.hp2 HG03098.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024	3	398	0.0075	450	c.310 others(467): Show c.310-4670_310-4669insGAAAGTGAGAGAAGGCCGAAGACCTGGT ATGAAAGTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCA AAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATTAAACTGA GGGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCAAAGACCTGGT ATGAAAGTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCCT AAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGA GAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCTGGT ATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCG AAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGA GAGAAGGCCGAAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281376	C C	CGGCCTTC others(443): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTC TCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTCTT AGGCCTTCTCTCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTCAT ACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTC TCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTCTT CGGCCTTCTCTCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTT A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	398	0.0025	450	c.310 others(467): Show c.310-5073_310-5072insTAAGACCTGGTATTAAACTGAGAGAAGG CCGAAGACCTGGTATTAAACTGAGGGAAGGCCGAAGACCTGGTATTAAAG TGAGAGAAGGCCAAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCT GGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGG CCTAAGACCTGGTATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAG TGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCT GGTATGAAAGTGAGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGG CCTAAGACCTGGTATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAG TGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCT GGTATGAAAGTGAGAGAAGGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(443): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCACTCCTGTCCCCTCCTCCCCCCTCTTCC CCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTCC TCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACTC CTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCC CACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTC T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0087 a0004c0003t0001g0087	1	328	0.0031	450	c.178 others(465): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTG GGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGG GAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGA GGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGA GTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGG GAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(443): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCACTCCTCCCC CACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTC T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	328	0.0031	450	c.178 others(465): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGAAGAGAGGAGAGGA GTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGG GAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGGA GATGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGG GGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGG GAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGA GGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGA GTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGG GAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C2CD4C_chr19_400445_414147	404898	G G	GGGGGGAC others(443): Show GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTG CCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGG GGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGG GGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCT GAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA TGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCTTGAGGGGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	322	0.0031	450	c.21 others(461): Show c.2197_*2198insACACCCCTCAAGGCAGGACCCCGTCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGACAGGACC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCC CTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTC AGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCC CCCCTCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCA GGACAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCC CTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGG CAGGACCCCGTCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		546		chr19	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(443): Show TCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGC CACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTC ACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCTATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGC C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0228 a0001c0007t0001g0228	1	284	0.0035	450	c.411 others(467): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATA GGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAG CTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGAA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGTGGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(443): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTC C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00438.hp2 HG00544.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0049 a0009c0026t0001g0145 a0009c0026t0001g0049 a0009c0026t0001g0145	2	284	0.0070	450	c.411 others(467): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGA AAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(443): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCAC A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0225 a0001c0004t0001g0225	1	284	0.0035	450	c.411 others(467): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTG GCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(443): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCATGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	284	0.0035	450	c.411 others(467): Show c.4112+605_4112+606insTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCAGGCGAGGGGAC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(443): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCATGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCAC A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0247 a0006c0012t0001g0247	1	284	0.0035	450	c.411 others(467): Show c.4112+605_4112+606insTGTGGCAGGCGAGGGGGCAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCAGGCGAGGGGAC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCZ1_chr7_5893733_5931550	5930763	C C	CGTACACA others(443): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACAACAGCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCATGTACACAGCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTAC ACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCC CAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCC TAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAA AGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0106 a0001c0004t0008g0106	1	114	0.0088	450	c.50 others(461): Show c.5076_*5077insGTACACAGCCCACCAAGATGCCTAGCAGCAAAGG TGTACATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGT ACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACAACAGCC CCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG CCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCAAGATGCCTAGCAGCA AAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGC ATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACA GCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAA GATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAG CAGCAAAGGTGAGCAT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4214		chr7	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(443): Show ATGATGGTGATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGAT GATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGATGG TGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGAT GATGGTGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGA TGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGAT GATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGGTGA TGGTGATGGTAATGGTGATGGTGATGATGATTGTGATGATGATGGTGATG G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0010 a0010	a0010c0004 a0010c0004	a0010c0004t0002 a0010c0004t0002	a0010c0004t0002g0075 a0010c0004t0002g0075	1	196	0.0051	450	c.-5- others(467): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGG TGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTG ATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGAT GATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGG TAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTA ATGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGAT GATGATGGTGATGGTGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(443): Show ATGATGGTGATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGAT GATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGATGG TGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTGATGGTGATG ATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGT GATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGA TGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGT GATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGA TGGTAATGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATG G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01346.hp1 others(10): Show HG01257.hp1 HG01258.hp2 HG01346.hp1 HG02015.hp2 HG02074.hp1 HG02132.hp2 NA18612.hp1 NA18950.hp1 NA18953.hp1 NA18979.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp2	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0006 a0013 a0014 a0026 a0027 a0032 a0098	a0001c0011 a0003c0022 a0005c0115 others(9): Show a0001c0011 a0003c0022 a0005c0115 a0006c0013 a0013c0009 a0013c0036 a0014c0024 a0014c0033 a0026c0117 a0027c0010 a0032c0129 a0098c0039	a0001c0011t0004 a0003c0022t0002 a0005c0115t0004 others(9): Show a0001c0011t0004 a0003c0022t0002 a0005c0115t0004 a0006c0013t0004 a0013c0009t0004 a0013c0036t0004 a0014c0024t0014 a0014c0033t0014 a0026c0117t0001 a0027c0010t0005 a0032c0129t0004 a0098c0039t0004	a0001c0011t0004g0086 a0003c0022t0002g0051 a0005c0115t0004g0072 others(10): Show a0001c0011t0004g0086 a0003c0022t0002g0051 a0005c0115t0004g0072 a0006c0013t0004g0059 a0013c0009t0004g0068 a0013c0036t0004g0070 a0014c0024t0014g0066 a0014c0033t0014g0094 a0026c0117t0001g0164 a0027c0010t0005g0116 a0027c0010t0005g0117 a0032c0129t0004g0093 a0098c0039t0004g0084	13	196	0.0663	450	c.-5- others(467): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTGATGGTGATGATGATGATGAT GGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGA TGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATG GTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGG TGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTG ATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGAT GATGATGGTGATGGTGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH8_chr16_61642250_62041438	61960228	C C	CATACATA others(443): Show CATACATATATACATATGTGTGTATACACATACATATATACATGTGTGTG TGTGTATACACATACATATATACATATGTGTGTGTATGCACATACATATA TACATATGTGTGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATATGTGTGTATACACATACATATATACATATGTGTGTG TATACACACACATATGTATATATGTATGTGTATACACACACATATATGTA TATATGTATGTGCATACACACACACACATGTATATATGTATGTGTATACA CATACATATATACATATGTGTGTGTATACACATACATATATACATGTGTG TGTGTGTATGCACATACACATATACATATATGTGTGTGTATACACATACA TATATACATATGTGTGTATACACACATATATACATATGTGTGTATACACA T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0074 a0001c0001t0016 a0001c0002t0074	a0001c0001t0016g0015 a0001c0002t0074g0068 a0001c0001t0016g0015 a0001c0002t0074g0068	2	168	0.0119	450	c.253 others(469): Show c.253-58756_253-58755insATGTGTATACACACATATGTATATAT GTGTGTATACACACATATGTATATATGTATGTGTATACACACACATATAT GTATATGTGTATGTGCATACACACACACACATGTATATATGTATGTGTAT ACACACACATATGTATATATGTATGTGTATACACATACATATATACATGT GTGTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACAT ACATATATACATATGTGTGTGTATACACACACATATGTATATATGTATGT GTATACACACATATGTATATATGTGTGTATACACACATATGTATATATGT ATGTGTATACACACACACATATGTATATATGTATGTGCATACACACACAT ATGTATATATGTATGTGTATACACACACACACATGTATATATGTATGTGT ATACACACATATGTATATATGTAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720839	T T	TCCCTCCC others(443): Show TCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCC CTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCCCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02809.hp1 others(1): Show HG02572.hp1 HG02630.hp1 HG02809.hp1 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	4	354	0.0113	450	c.69 others(461): Show c.6934_*6935insCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTCTCCCTCCCCCTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4838		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132813657	G G	GCCCCTGC others(443): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCACCCCTGCACACACCTGCCCCTGCAGCCCC GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC ACCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCTC CTGCAGCCCCGCCCCTGCACACACCTGCTCCTGCAGCCCCGCCCCTGCAC ACACCTGCTCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0002 a0033c0074t0002	a0033c0074t0002g0006 a0033c0074t0002g0006	1	246	0.0041	450	c.738 others(467): Show c.7388+494_7388+495insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGAGCAGGTGTGTGCAGGGGCGGGGCTGCAGGAGCAGG TGTGTGCAGGGGCGGGGCTGCAGGAGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGG GGTGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813657	G G	GCCCCTGC others(443): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC ACCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCTC CTGCAGCCCCGCCCCTGCACACACCTGCTCCTGCAGCCCCGCCCCTGCAC ACACCTGCTCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	246	0.0041	450	c.738 others(467): Show c.7388+494_7388+495insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGAGCAGGTGTGTGCAGGGGCGGGGCTGCAGGAGCAGG TGTGTGCAGGGGCGGGGCTGCAGGAGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CHL1_chr3_191763_414417	262109	T T	TAGATCTA others(443): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	290	0.0035	450	c.-95 others(469): Show c.-95+17461_-95+17462insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262109	T T	TAGATCTA others(443): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	290	0.0035	450	c.-95 others(469): Show c.-95+17551_-95+17552insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262199	T T	TAGATCTA others(443): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCAAAGGGCAGGATTCACACGTTTAAGCC C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	290	0.0035	450	c.-95 others(469): Show c.-95+17551_-95+17552insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCAAAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262199	T T	TAGATCTA others(443): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG03098.hp2 others(1): Show HG02109.hp1 HG02257.hp2 HG03098.hp2 HG06807.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0007 a0001c0001 a0003c0003 a0008c0007	a0001c0001t0005 a0001c0001t0029 a0003c0003t0007 others(1): Show a0001c0001t0005 a0001c0001t0029 a0003c0003t0007 a0008c0007t0001	a0001c0001t0005g0242 a0001c0001t0029g0091 a0003c0003t0007g0248 others(1): Show a0001c0001t0005g0242 a0001c0001t0029g0091 a0003c0003t0007g0248 a0008c0007t0001g0243	4	290	0.0138	450	c.-95 others(469): Show c.-95+17551_-95+17552insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262289	T T	TAGATCTA others(443): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTGCA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCC C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0019 a0005c0006t0019	a0005c0006t0019g0124 a0005c0006t0019g0124	1	290	0.0035	450	c.-95 others(469): Show c.-95+17686_-95+17687insTAGATCTGCACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTATTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(443): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACGCT ACACACACACCCCATACACACACACCACACACACCAGACACACACAAACA CCACACACACCAGACACAACACACAACACACACACACCACAGGTGTGCAC CACACACACACCACATGCACACAGACATACCACCTACCAAAAGTGTGCAC CACACGCACCACGTGCATACCAACACACACCACACACACCATACAGACAC ACCACACACACACCACACACACTCCATACACATACAACACACAACACACA C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(99): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19059.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0004 a0003c0010 others(1): Show a0002c0002 a0003c0004 a0003c0010 a0008c0012	a0002c0002t0001 a0003c0004t0001 a0003c0010t0001 others(1): Show a0002c0002t0001 a0003c0004t0001 a0003c0010t0001 a0008c0012t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0008 others(32): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0078 a0002c0002t0001g0102 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0003c0004t0001g0012 a0003c0004t0001g0016 a0003c0004t0001g0022 a0003c0004t0001g0025 a0003c0004t0001g0034 a0003c0004t0001g0039 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0100 a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0010t0001g0089 a0008c0012t0001g0076	102	364	0.2802	450	c.181 others(467): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACGCTACACACACACCCCATACACACACACCACACACAC CAGACACACACAAACACCACACACACCAGACACAACACACAACACACACA CACCACAGGTGTGCACCACACACACACCACATGCACACAGACATACCACC TACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACACCACA CACACCATACAGACACACCACACACACACCACACACACTCCATACACATA CAACACACAACACACACCACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
COA1_chr7_43634257_43734523	43691422	A A	AGGAAGGA others(443): Show AGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	384	0.0026	450	c.-39 others(469): Show c.-39+38006_-39+38007insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTT TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTCCTTCCTTCCTTCC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(443): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0286 a0003c0008t0002g0286	1	344	0.0029	450	c.85- others(467): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCC TTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(443): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGA AGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0052 a0001c0010t0001g0052	1	344	0.0029	450	c.85- others(467): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCC CCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCC TTCCTGCCTGCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(443): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG02735.hp2 others(2): Show HG00140.hp1 HG01255.hp2 HG02735.hp2 HG04199.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0012 others(1): Show a0001c0001 a0001c0004 a0001c0012 a0003c0021	a0001c0001t0059 a0001c0004t0002 a0001c0012t0004 others(2): Show a0001c0001t0059 a0001c0004t0002 a0001c0012t0004 a0001c0012t0051 a0003c0021t0001	a0001c0001t0059g0093 a0001c0004t0002g0046 a0001c0012t0004g0112 others(2): Show a0001c0001t0059g0093 a0001c0004t0002g0046 a0001c0012t0004g0112 a0001c0012t0051g0086 a0003c0021t0001g0157	5	272	0.0184	450	c.925 others(465): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CREB3L2_chr7_137869979_138007086	137946924	T T	TTATATAT others(443): Show TTATATATATAGTTATATATATATATAGTTATATATATAGTTATATATAT ATATAGTTATATATATAGTTATATATATATATAGTTATATATATAGTTAT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATATAGTTATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATATAGTTATATATATAGTTATATATATAGTTATATATAT AGTTATATATATATAGTTATATATATAGTTATATATATATAGTTATATAT ATAGTTATATATATATAGTTATATATATAGTTATATATATATAGTTATAT ATATAGTTATATATATATAGTTATATATATAGTTATATATATATAGTTAT ATATATAGTTATATATATATAGTTATATATATATAGTTATATATATAGTT A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0153 a0001c0007t0023g0153	1	288	0.0035	450	c.103 others(469): Show c.103-18559_103-18558insTAACTATATATATAACTATATATATA TAACTATATATATATAACTATATATATAACTATATATATATAACTATATA TATAACTATATATATATAACTATATATATAACTATATATATATAACTATA TATATAACTATATATATATAACTATATATATAACTATATATATATAACTA TATATATAACTATATATATATAACTATATATATAACTATATATATAACTA TATATATAACTATATATATATAACTATATATATAACTATATATATATAAC TATATATATAACTATATATATATAACTATATATATAACTATATATATATA ACTATATATATAACTATATATATATATAACTATATATATAACTATATATA TATATAACTATATATATAACTATATATATATATAACTATATATATAACTA TATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240979324	T T	TCCCAGGC others(443): Show TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGA G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp2 HG06807.hp1 HG02647.hp2 HG02922.hp2 HG06807.hp1	a0010 a0014 a0020 a0010 a0014 a0020	a0010c0048 a0014c0014 a0020c0028 a0010c0048 a0014c0014 a0020c0028	a0010c0048t0001 a0014c0014t0001 a0020c0028t0001 a0010c0048t0001 a0014c0014t0001 a0020c0028t0001	a0010c0048t0001g0207 a0014c0014t0001g0173 a0020c0028t0001g0027 a0010c0048t0001g0207 a0014c0014t0001g0173 a0020c0028t0001g0027	3	350	0.0086	450	c.440 others(469): Show c.4402-3536_4402-3535insGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980200	A A	AGCTCTGG others(443): Show AGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCTGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATGCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0001 a0020c0028t0001	a0020c0028t0001g0027 a0020c0028t0001g0027	1	350	0.0029	450	c.440 others(469): Show c.4402-2657_4402-2656insTCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCTGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATGCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA GGCTCTGGGGTAGGAGCCTCAGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(443): Show TATGCACCTATACATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTA TATATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTA TATATGCATACGTATATATGCACACGTATATATGCATACGTATATATGCA CACGTATATATGCATACGTATATATGCACACGTATATATGCACGTATATA TGCACATACGTATATATGCACGTATATATGCACATACGTATATATGCACG TATATATGCACATACGTATATATGCACGTATATATGCACATACGTATATA TGCACGTATATATATACATACGTATATATGCACGTATATATATACATACG TATATATGCACGTGTATATATACATACGTATATATGCACGTGTATATATA C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0015 a0002c0031t0015	a0002c0031t0015g0001 a0002c0031t0015g0001	1	126	0.0079	450	c.156 others(469): Show c.1562-2383_1562-2382insGTATATATACACGTGCATATATACGT ATGTATATATACACGTGCATATATACGTATGTATATATATACGTGCATAT ATACGTATGTATATATATACGTGCATATATACGTATGTGCATATATACGT GCATATATACGTATGTGCATATATACGTGCATATATACGTATGTGCATAT ATACGTGCATATATACGTATGTGCATATATACGTGCATATATACGTGTGC ATATATACGTATGCATATATACGTGTGCATATATACGTATGCATATATAC GTGTGCATATATACGTATGCATATATACGTGTGCATATATACGTGCATAT ATACGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATAT ATACGTGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCAT ATATACGTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(443): Show ATATATTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATATTATATATTATATGTATATTATGTATACATA ATATATTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATTTATATATTATATGTATA T	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	344	0.0058	450	c.896 others(467): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAAATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATATTATGTATACATAATATACATATAATATATAATATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAAATATTATGTATACATAA TATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
D2HGDH_chr2_241729630_241773811	241766455	C C	CTTGGGGA others(443): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAA G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0364 a0003c0003t0005g0364	1	412	0.0024	450	c.130 others(469): Show c.1307-1164_1307-1163insTGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCC CCGGGCTGAGGGAGTAGGAAGAGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766717	G G	GGAGCCCC others(443): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0351 a0003c0003t0005g0351	1	412	0.0024	450	c.130 others(467): Show c.1307-956_1307-955insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766717	G G	GGAGCCCC others(443): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18952.hp2 NA19012.hp1 HG02040.hp1 NA18952.hp2 NA19012.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0004 a0003c0003 a0004c0005 a0005c0004	a0003c0003t0010 a0004c0005t0047 a0005c0004t0045 a0003c0003t0010 a0004c0005t0047 a0005c0004t0045	a0003c0003t0010g0330 a0004c0005t0047g0056 a0005c0004t0045g0357 a0003c0003t0010g0330 a0004c0005t0047g0056 a0005c0004t0045g0357	3	412	0.0073	450	c.130 others(467): Show c.1307-965_1307-964insTGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCC CGGGCTGAGGGAGTAGGAAGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766717	G G	GGAGCCCC others(443): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0333 a0003c0003t0010g0333	1	412	0.0024	450	c.130 others(467): Show c.1307-965_1307-964insTGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCC CGGGCTGAGGGAGTAGGAAGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(443): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGG GGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAG G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0046 a0003c0003t0005g0046	1	216	0.0046	450	c.923 others(469): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCC CCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCCCTCCCTC CCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(443): Show ACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTACCACCACTACCACCACCACCACTATAA CCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACCACT ACTATAACCATTACCACCATCACTACTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACTATAACCACCATCATCACCACCACCACTATAACC ACCATCATCATCACCACCACTACCACTACTGTAACCATCACCACCATCAC TGCTATAACCACCACCACCACCACTATAACCACCACCACCGCTATAACCA CCATCATCATCACCACCACTACCACTACTATAACCATCACCACCATCACT G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0176 a0001c0004t0009g0176	1	230	0.0044	450	c.724 others(469): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGCGGTGGTGGTGGTTAT AGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAG TGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGATG GTGGTTATAGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGT TATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG TAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATG GTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGT GGTAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG CAGTGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(443): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	367	0.0027	450	c.-42 others(461): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875236	C C	CCACCCCC others(443): Show CCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	450	c.39 others(461): Show c.3996_*3997insCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2506		chr20	TogoVar
DOCK8_chr9_209865_470255	400321	T T	TCCACCAC others(443): Show TCCACCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCAC CACCTCCACCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACCA CCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTCC ACCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCTCCACCAC CACCACCACCACCATCACCACCTCCTTCACCATCACCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCGTC ACCACCTTCTCCACCACCACCATCTTCACCATCACCACCACCTCCACCAT CACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCT CCACCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACC A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0023 a0023	a0023c0100 a0023c0100	a0023c0100t0004 a0023c0100t0004	a0023c0100t0004g0054 a0023c0100t0004g0054	1	256	0.0039	450	c.323 others(469): Show c.3234+1070_3234+1071insTCCACCACCACCTCCACCACCACCAC CACCACCACCTCCACCACCTCCACCACCACCTCCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCACCACC ACCTCCACCACCTCCACCACCACCTCCACCTCCACCTCCACCACCTCCAC CACCACCTCCACCACCACCACCACCACCATCACCACCTCCTTCACCATCA CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCC ACCATCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCACCACCTCCACCACCACCTCCACCA CCTCCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCACC TCCACCACCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928110	G G	GTGGTGGT others(443): Show GTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TAGTGGTAGTAGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0130 a0003c0002t0001g0130	1	288	0.0035	450	c.190 others(469): Show c.1909+7245_1909+7246insTGGTGGAGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTAGTGGTAGTAGTGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(443): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	288	0.0035	450	c.190 others(469): Show c.1909+7352_1909+7353insATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGATGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(443): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0241 a0001c0007t0018g0241	1	288	0.0035	450	c.190 others(469): Show c.1909+7371_1909+7372insTGATGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA TGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(443): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCAGCCCCCCACATCACCTCCCCCTCCTCCACACACACCAGCCG CCCAAATTGCCTCCCCCTTCACACACTCCATCCCCCCAAATCACCTCCCC TCGACACACCCCAGCCCCTCACATCACCTCCCCTCCACACACACCCCAGC CCCCCACATCACCTCCCCCTCCTCCACACACCCCAGCCCCCCACATCACC TCCCCCTCCTCCACACACACCCCAGGCCCCCCACATCGCCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCCC ATCACCTCCCCCTCCACACACACCAGCCCCCCACATCACCTCCCCCTCCT C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02630.hp1 others(4): Show HG02055.hp2 HG02109.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0015 others(3): Show a0001c0002 a0002c0003 a0002c0015 a0003c0006 a0003c0007 a0003c0034	a0001c0002t0002 a0002c0003t0023 a0002c0003t0032 others(4): Show a0001c0002t0002 a0002c0003t0023 a0002c0003t0032 a0002c0015t0005 a0003c0006t0002 a0003c0007t0002 a0003c0034t0002	a0001c0002t0002g0040 a0002c0003t0023g0027 a0002c0003t0032g0109 others(4): Show a0001c0002t0002g0040 a0002c0003t0023g0027 a0002c0003t0032g0109 a0002c0015t0005g0070 a0003c0006t0002g0107 a0003c0007t0002g0121 a0003c0034t0002g0046	7	125	0.0560	450	c.928 others(467): Show c.928-2737_928-2736insGAGGAGGGGGAGGTGATGTGGGGGGCTG GTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGA GGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCT GGGGTGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGG AGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGTGGAGGGGAGGTGA TGTGAGGGGCTGGGGTGTGTCGAGGGGAGGTGATTTGGGGGGATGGAGTG TGTGAAGGGGGAGGCAATTTGGGCGGCTGGTGTGTGTGGAGGAGGGGGAG GTGATGTGGGGGGCTGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGG TGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAG GTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(443): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATAATAATATATAATATGTTATATTATATATTA TATTATATATAATAATATGTAATATATAATTATATTATATACTATTATAA TAATTATAATAATATTAATATTATATTATAATTATAATAGACACATATAA TAATAATTATAATAATTAGCAGATTATTTTATAATAATATTATATAATAT GTATTAATAACATATAATATAATATACAATCTATTACTATATAATGTATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	450	c.40 others(461): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAACATATTATATATTATTATATATAATATAATATATAATAT ATTATTATATATAATATAATATATAATATATTATATATTATAATAATATA TATGTTATGTAATATATAATATATTATATATAATAATATATAATATAATA TATAATATATTAAGATTATATATGATATGTAATATATATAATTATATATC ATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(443): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT TATATATTATATTATATATAATAATATATAATATGTTATATTATATATTA TATTATATATAATAATATGTAATATATAATTATATTATATACTATTATAA TAATTATAATAATATTAATATTATATTATAATTATAATAGACACATATAA TAATAATTATAATAATTAGCAGATTATTTTATAATAATATTATATAATAT GTATTAATAACATATAATATAATATACAATCTATTACTATATAATGTATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18945.hp1 NA18990.hp1 others(2): Show HG03669.hp2 NA18945.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	314	0.0159	450	c.40 others(461): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATTATATATAATATAATATATAATATATTATATATTATAATAATATA TATGTTATGTAATATATAATATATTATATATAATAATATATAATATAATA TATAATATATTAAGATTATATATGATATGTAATATATATAATTATATATC ATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
FGFR4_chr5_177081915_177103144	177097085	T T	TTCCTCCT others(443): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCC TCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTC C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0198 a0003c0007t0001g0198	1	372	0.0027	450	c.215 others(467): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCT CTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar

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