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
ANXA2_chr15_60342151_60402986	60366820	GCCAGCCG others(112): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG03209.hp2 HG01167.hp1 HG02145.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0029 a0001c0001t0001g0201 a0001c0001t0001g0210	3	334	0.0090	-119	c.149 others(17): Show c.149-2416_149-2298del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128467	GCCCCCGC others(112): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0211 a0001c0003t0005g0211	1	406	0.0025	-119	c.806 others(15): Show c.806+504_806+622del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128672	AGCTCCGA others(112): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0371 a0001c0001t0003g0371	1	406	0.0025	-119	c.806 others(15): Show c.806+299_806+417del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP11A_chr13_112685038_112892168	112766851	TGTGGGAA others(112): Show TGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGAGTGCTGGGAGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02647.hp2 others(9): Show HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0029 a0004c0015	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(4): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0004t0042 a0001c0006t0004 a0001c0029t0051 a0004c0015t0002	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(9): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0029t0051g0046 a0004c0015t0002g0052	12	254	0.0472	-119	c.40- others(17): Show c.40-18279_40-18161del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766856	GAAGGTGG others(112): Show GAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGG AGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGA GTGCTGGGAGCCCCCGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp2 HG02148.hp2 others(1): Show HG00741.hp2 HG01981.hp2 HG02148.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0019 a0001c0005t0071 a0001c0006t0001 others(1): Show a0001c0001t0019 a0001c0005t0071 a0001c0006t0001 a0002c0003t0009	a0001c0001t0019g0018 a0001c0005t0071g0125 a0001c0006t0001g0194 others(1): Show a0001c0001t0019g0018 a0001c0005t0071g0125 a0001c0006t0001g0194 a0002c0003t0009g0143	4	254	0.0158	-119	c.40- others(17): Show c.40-18266_40-18148del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767061	GGGGAGAT others(112): Show GGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGT GGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCG GGGGCCCCTGTAGGAAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02647.hp2 others(10): Show HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0001c0029 a0004c0015	a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 others(5): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0003 a0001c0004t0042 a0001c0006t0004 a0001c0014t0043 a0001c0029t0051 a0004c0015t0002	a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 others(10): Show a0001c0001t0002g0050 a0001c0001t0021g0240 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0014t0043g0056 a0001c0029t0051g0046 a0004c0015t0002g0052	13	254	0.0512	-119	c.40- others(17): Show c.40-18068_40-17950del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767105	GGGTGTGG others(112): Show GGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGG GTATCGGGGGCCCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGG CCCCTGTGGGAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG03130.hp1 HG02572.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0019 a0001c0043 a0001c0004 a0001c0019 a0001c0043	a0001c0004t0003 a0001c0019t0015 a0001c0043t0044 a0001c0004t0003 a0001c0019t0015 a0001c0043t0044	a0001c0004t0003g0149 a0001c0019t0015g0147 a0001c0043t0044g0148 a0001c0004t0003g0149 a0001c0019t0015g0147 a0001c0043t0044g0148	3	254	0.0118	-119	c.40- others(17): Show c.40-18028_40-17910del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767118	CTGGGAGC others(112): Show CTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCCC CTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGATGTGGGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0119 a0002c0003t0002g0119	1	254	0.0039	-119	c.40- others(17): Show c.40-18012_40-17894del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767397	TGGGGGCC others(112): Show TGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCT GTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGT GGGGAGGATGTAGGGGTATC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0012 a0012	a0012c0044 a0012c0044	a0012c0044t0001 a0012c0044t0001	a0012c0044t0001g0069 a0012c0044t0001g0069	1	254	0.0039	-119	c.40- others(17): Show c.40-17717_40-17599del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V1E2_chr2_46506847_46547577	46524048	AAAGGAAT others(112): Show AAAGGAATACTTGTGTTTTTGCACATTGATTTTGTATCCTGAGATTTTGC TGAAGTTGCTTATCAATTCGACAAGTTTTTGGGCTGAGATGATGGGGTTT TGTAAATATAAAATCATGTC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	410	0.0024	-119	c.-10 others(21): Show c.-101-11355_-101-11237del	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(112): Show ACCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCC CGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCCCCGCCCCGGCCCTCGCC CCGCCCCGGCCCTCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp1 HG02622.hp2 others(4): Show HG00733.hp2 HG02258.hp1 HG02622.hp2 HG02647.hp2 HG03453.hp2 NA18522.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0010 a0001c0005t0016	a0001c0001t0001g0179 a0001c0003t0001g0197 a0001c0004t0001g0276 others(4): Show a0001c0001t0001g0179 a0001c0003t0001g0197 a0001c0004t0001g0276 a0001c0005t0001g0048 a0001c0005t0001g0140 a0001c0005t0010g0292 a0001c0005t0016g0304	7	326	0.0215	-119	c.233 others(14): Show c.233+43_233+161del	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6			chr14	TogoVar
BRDT_chr1_91944401_92019421	91962203	AGGCATAT others(112): Show AGGCATATATAGTGAAACTTTTACTATTTGTATATAAAAAATTTGTATTT GTTTAAAAATTGATTCCTTTGCCATTTGGCTTTTTTTTTTTTTCATCCTG TCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0120	1	318	0.0031	-119	c.-37 others(15): Show c.-37-514_-37-396del	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18			chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816650	ATATTATA others(112): Show ATATTATATATACACATAGATGTGTGTGTATATTATATATACACATAGAT GTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATAC ACATAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01993.hp1 others(5): Show HG01081.hp1 HG01261.hp1 HG01993.hp1 HG02071.hp1 HG02273.hp2 NA18945.hp1 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 others(3): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0039 a0001c0001t0074	a0001c0001t0008g0008 a0001c0001t0010g0008 a0001c0001t0015g0008 others(5): Show a0001c0001t0008g0008 a0001c0001t0010g0008 a0001c0001t0015g0008 a0001c0001t0016g0005 a0001c0001t0016g0031 a0001c0001t0016g0047 a0001c0001t0039g0008 a0001c0001t0074g0005	8	436	0.0184	-119	c.28 others(11): Show c.2879_*2997del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1066		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077212	GGGTGGCT others(112): Show GGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGG ACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGA GTCTATGGGGACTCTGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	326	0.0031	-119	c.55 others(11): Show c.5562_*5680del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4610		chr1	TogoVar
CACNA1B_chr9_137872782_138129619	138126705	CCCCGGCC others(112): Show CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCACTGCAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG02698.hp2 others(1): Show HG01433.hp2 HG02257.hp1 HG02698.hp2 HG04199.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0001 a0002c0008t0001 a0002c0005t0001 a0002c0008t0001	a0002c0005t0001g0175 a0002c0005t0001g0201 a0002c0005t0001g0202 others(1): Show a0002c0005t0001g0175 a0002c0005t0001g0201 a0002c0005t0001g0202 a0002c0008t0001g0174	4	248	0.0161	-119	c.47 others(11): Show c.4707_*4825del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2087		chr9	TogoVar
CARD10_chr22_37485362_37524415	37509763	GACCCCCA others(112): Show GACCCCCATGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCCCTCCT GACCTCCTGCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCTACCGCA GGCCCTCCTGACCACCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02040.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0023 a0002c0001 a0002c0023	a0002c0001t0001 a0002c0023t0002 a0002c0001t0001 a0002c0023t0002	a0002c0001t0001g0163 a0002c0023t0002g0162 a0002c0001t0001g0163 a0002c0023t0002g0162	2	276	0.0073	-119	c.909 others(15): Show c.909+330_909+448del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37509770	ATGCCCAT others(112): Show ATGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCCCTCCTGACCTCC TGCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCTACCGCAGGCCCTC CTGACCACCCCCCACCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(126): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18965.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0018 a0020 a0021 a0022 a0024	a0001c0003 a0001c0006 a0001c0007 others(32): Show a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0016 a0001c0025 a0001c0051 a0002c0001 a0002c0011 a0002c0013 a0002c0021 a0002c0030 a0003c0004 a0003c0005 a0003c0008 a0003c0010 a0003c0012 a0003c0014 a0003c0018 a0003c0026 a0003c0034 a0004c0032 a0005c0020 a0006c0019 a0008c0035 a0010c0029 a0011c0038 a0012c0037 a0013c0041 a0014c0027 a0018c0042 a0020c0028 a0021c0039 a0022c0036 a0024c0040	a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 others(37): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0014 a0001c0007t0001 a0001c0009t0001 a0001c0016t0001 a0001c0025t0002 a0001c0051t0001 a0002c0001t0001 a0002c0001t0002 a0002c0011t0001 a0002c0013t0001 a0002c0021t0001 a0002c0030t0004 a0003c0004t0001 a0003c0005t0001 a0003c0008t0001 a0003c0010t0001 a0003c0010t0002 a0003c0010t0005 a0003c0012t0001 a0003c0014t0001 a0003c0018t0002 a0003c0026t0001 a0003c0034t0001 a0004c0032t0001 a0005c0020t0001 a0006c0019t0001 a0008c0035t0001 a0010c0029t0004 a0011c0038t0001 a0012c0037t0001 a0013c0041t0001 a0014c0027t0001 a0018c0042t0001 a0020c0028t0005 a0021c0039t0001 a0022c0036t0001 a0024c0040t0001	a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 others(118): Show a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0206 a0001c0003t0001g0236 a0001c0003t0001g0245 a0001c0003t0001g0253 a0001c0003t0002g0064 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0021 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0001g0025 a0001c0006t0001g0026 a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0014g0017 a0001c0007t0001g0003 a0001c0007t0001g0062 a0001c0007t0001g0065 a0001c0007t0001g0069 a0001c0007t0001g0132 a0001c0007t0001g0210 a0001c0009t0001g0128 a0001c0016t0001g0133 a0001c0016t0001g0139 a0001c0016t0001g0142 a0001c0025t0002g0020 a0001c0051t0001g0147 a0002c0001t0001g0074 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0140 a0002c0001t0001g0165 a0002c0001t0002g0111 a0002c0011t0001g0058 a0002c0011t0001g0063 a0002c0011t0001g0098 a0002c0013t0001g0129 a0002c0013t0001g0130 a0002c0013t0001g0131 a0002c0021t0001g0029 a0002c0021t0001g0030 a0002c0030t0004g0032 a0003c0004t0001g0001 a0003c0004t0001g0061 a0003c0004t0001g0211 a0003c0004t0001g0213 a0003c0004t0001g0217 a0003c0004t0001g0225 a0003c0004t0001g0226 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0239 a0003c0004t0001g0244 a0003c0005t0001g0218 a0003c0005t0001g0219 a0003c0005t0001g0220 a0003c0005t0001g0222 a0003c0005t0001g0223 a0003c0005t0001g0228 a0003c0005t0001g0229 a0003c0005t0001g0230 a0003c0005t0001g0235 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0252 a0003c0008t0001g0036 a0003c0008t0001g0043 a0003c0008t0001g0050 a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0055 a0003c0008t0001g0056 a0003c0010t0001g0037 a0003c0010t0001g0044 a0003c0010t0002g0034 a0003c0010t0005g0038 a0003c0010t0005g0045 a0003c0012t0001g0009 a0003c0012t0001g0247 a0003c0012t0001g0248 a0003c0014t0001g0040 a0003c0014t0001g0041 a0003c0014t0001g0042 a0003c0018t0002g0047 a0003c0018t0002g0048 a0003c0026t0001g0051 a0003c0034t0001g0240 a0004c0032t0001g0060 a0005c0020t0001g0035 a0006c0019t0001g0049 a0006c0019t0001g0052 a0008c0035t0001g0171 a0010c0029t0004g0031 a0011c0038t0001g0237 a0012c0037t0001g0238 a0013c0041t0001g0233 a0014c0027t0001g0046 a0018c0042t0001g0234 a0020c0028t0005g0039 a0021c0039t0001g0224 a0022c0036t0001g0227 a0024c0040t0001g0221	129	276	0.4674	-119	c.909 others(15): Show c.909+323_909+441del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CCDC18_chr1_93175724_93283730	93282199	ACCAGGCA others(112): Show ACCAGGCATGGTGGTGTGTGCTATAGTCCTAGCTATTCAGGAGGCTGAGG TGGGAGGATTGCTTGATGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGC AGAGATCACACCACTGCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	316	0.0032	-119	c.37 others(11): Show c.3723_*3841del	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding		3470		chr1	TogoVar
CDK12_chr17_39456486_39539544	39498888	TTTCTTTC others(112): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0012 a0001c0002t0059g0012	1	260	0.0039	-119	c.242 others(19): Show c.2420-2359_2420-2241del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39499023	CTTTCTTT others(112): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	260	0.0039	-119	c.242 others(19): Show c.2420-2226_2420-2108del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CEP162_chr6_84119250_84232643	84189936	GACACTCT others(112): Show GACACTCTGTATCTAGCTGCTCTGGTGAGGACGTGGAGAGTCTTTATATC TAGCCCAGGGATTGTAAATATACCAATCAGCACCCTGTGTTTAGCTCAAG GTTTGTGACTGCACCAATCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	214	0.0047	-119	c.111 others(19): Show c.1110-3432_1110-3314del	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	11/26			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178294412	CTCCCAAA others(112): Show CTCCCAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTC CCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCC CAAATCACTACCGAGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show HG02486.hp1 HG02615.hp1 HG02922.hp2 HG03098.hp1	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0010	a0002c0002 a0008c0019 a0009c0020 others(1): Show a0002c0002 a0008c0019 a0009c0020 a0010c0013	a0002c0002t0009 a0008c0019t0003 a0009c0020t0005 others(1): Show a0002c0002t0009 a0008c0019t0003 a0009c0020t0005 a0010c0013t0005	a0002c0002t0009g0225 a0008c0019t0003g0215 a0009c0020t0005g0160 others(1): Show a0002c0002t0009g0225 a0008c0019t0003g0215 a0009c0020t0005g0160 a0010c0013t0005g0132	4	236	0.0170	-119	c.407 others(17): Show c.407-4162_407-4044del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	86111104	GCACCAAT others(112): Show GCACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGGACTTAGAGAAC TTTTATGTCTAGCTAGAGGATTGTAAATGCACCAGTCAGCACTCTGTGTC TAGCTCGGGGTTTGTGGATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG02922.hp1 others(2): Show HG02145.hp2 HG02886.hp2 HG02922.hp1 HG03225.hp2 NA20300.hp2	a0021 a0033 a0037 others(1): Show a0021 a0033 a0037 a0039	a0021c0051 a0021c0052 a0033c0054 others(2): Show a0021c0051 a0021c0052 a0033c0054 a0037c0055 a0039c0053	a0021c0051t0002 a0021c0052t0003 a0033c0054t0004 others(2): Show a0021c0051t0002 a0021c0052t0003 a0033c0054t0004 a0037c0055t0009 a0039c0053t0009	a0021c0051t0002g0096 a0021c0052t0003g0098 a0033c0054t0004g0097 others(2): Show a0021c0051t0002g0096 a0021c0052t0003g0098 a0033c0054t0004g0097 a0037c0055t0009g0005 a0039c0053t0009g0006	5	238	0.0210	-119	c.159 others(19): Show c.1599+1344_1599+1462del	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL4A2_chr13_110302284_110518209	110481743	TTGCTGGA others(112): Show TTGCTGGAGACACACAGTTCTGTCCCTCCATTGCTGGAGACACACTGCTC TGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGA CACACTGCTCTGTCCCTCCG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0121 a0002c0121	a0002c0121t0015 a0002c0121t0015	a0002c0121t0015g0368 a0002c0121t0015g0368	1	372	0.0027	-119	c.275 others(17): Show c.2759-758_2759-640del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46137848	46135334	CAACACCA others(112): Show CAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTC CCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCAC AAATGTCCCCTCATGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(111): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012	a0001c0002 a0001c0007 a0001c0015 others(21): Show a0001c0002 a0001c0007 a0001c0015 a0001c0023 a0001c0024 a0001c0033 a0001c0038 a0001c0045 a0001c0046 a0001c0052 a0001c0054 a0002c0012 a0002c0029 a0003c0010 a0003c0016 a0003c0032 a0004c0005 a0005c0017 a0005c0069 a0006c0028 a0006c0060 a0007c0030 a0007c0064 a0012c0071	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(28): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0007t0005 a0001c0015t0002 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0038t0002 a0001c0045t0002 a0001c0046t0002 a0001c0052t0002 a0001c0054t0002 a0002c0012t0001 a0002c0012t0007 a0002c0029t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0032t0001 a0004c0005t0001 a0005c0017t0002 a0005c0069t0002 a0006c0028t0001 a0006c0060t0001 a0007c0030t0002 a0007c0064t0002 a0012c0071t0002	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(98): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0038t0002g0300 a0001c0045t0002g0295 a0001c0046t0002g0285 a0001c0052t0002g0279 a0001c0054t0002g0298 a0002c0012t0001g0026 a0002c0012t0001g0030 a0002c0012t0007g0029 a0002c0012t0007g0032 a0002c0012t0007g0095 a0002c0029t0001g0062 a0002c0029t0001g0089 a0003c0010t0001g0189 a0003c0010t0001g0190 a0003c0010t0001g0196 a0003c0010t0002g0325 a0003c0016t0002g0023 a0003c0032t0001g0240 a0003c0032t0001g0241 a0004c0005t0001g0099 a0004c0005t0001g0204 a0004c0005t0001g0208 a0004c0005t0001g0210 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0069t0002g0311 a0006c0028t0001g0096 a0006c0028t0001g0098 a0006c0060t0001g0097 a0007c0030t0002g0092 a0007c0030t0002g0093 a0007c0064t0002g0070 a0012c0071t0002g0283	114	364	0.3132	-119	c.27 others(11): Show c.2783_*2901del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2487		chr21	TogoVar
COMMD9_chr11_36267292_36294424	36270018	GTTTGTTA others(112): Show GTTTGTTACTGCAGCATAACCTTGTATTGAGTATATGTTCTTATTTTCTG TATTCTTCATGCGCTAACATTTGGGTCCTTGATCCAAAGAGGTCACCCCA TTCAGGGCTAGCAAATTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	448	0.0022	-119	c.44 others(11): Show c.4495_*4613del	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2273		chr11	TogoVar
CPLX1_chr4_779957_831129	826358	GGGGCGGG others(112): Show GGGGCGGGGGGCGGACCCGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGG GGCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGCGGGG GGTGGACCCGGGGCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03710.hp2 NA19043.hp1 HG02738.hp1 HG03710.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015	a0001c0001t0004g0128 a0001c0001t0008g0132 a0001c0001t0015g0127 a0001c0001t0004g0128 a0001c0001t0008g0132 a0001c0001t0015g0127	3	416	0.0072	-119	c.-51 others(9): Show c.-511_-393del	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		230		chr4	TogoVar
CXCL6_chr4_73831678_73843760	73835979	CTCTCTGT others(112): Show CTCTCTGTTTGTTTGTTATTGGTGTATAAGAATGCTTGTGATTTTTGTGC ATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGA GATTTTGGGCTGAGACCATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0005g0002 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0010g0003 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0013g0001 a0001c0001t0014g0001 a0002c0002t0001g0005	433	444	0.9752	-119	c.-77 others(9): Show c.-771_-653del	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		698		chr4	TogoVar
DCC_chr18_52335197_53540899	52366610	GCTCAGAA others(112): Show GCTCAGAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTATTTACAAT CCCTGAGCCAGACATAAAGGTTCTCCAAGGCCCCACCAGAGCAGCTAGAT ACAGAGTGTCGATTGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0063 a0002c0001t0002g0063	1	114	0.0088	-119	c.91+ others(17): Show c.91+25737_91+25855del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52366615	GAAACCTT others(112): Show GAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTATTTACAATCCCTG AGCCAGACATAAAGGTTCTCCAAGGCCCCACCAGAGCAGCTAGATACAGA GTGTCGATTGGTGCACTCAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02895.hp2 HG02922.hp2 others(2): Show HG00735.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 NA19043.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0005 a0003c0006 others(2): Show a0001c0002 a0001c0005 a0003c0006 a0003c0024 a0007c0014	a0001c0002t0006 a0001c0005t0007 a0003c0006t0010 others(2): Show a0001c0002t0006 a0001c0005t0007 a0003c0006t0010 a0003c0024t0009 a0007c0014t0037	a0001c0002t0006g0003 a0001c0005t0007g0114 a0003c0006t0010g0001 others(2): Show a0001c0002t0006g0003 a0001c0005t0007g0114 a0003c0006t0010g0001 a0003c0024t0009g0002 a0007c0014t0037g0030	5	114	0.0439	-119	c.91+ others(17): Show c.91+25790_91+25908del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DENND1C_chr19_6462207_6486787	6479263	GGATCTCT others(112): Show GGATCTCTGGGTTTCTGGATCTCTGGGTCCTTGAATCCCTAAGTCCCTGG GTTCCTCAGTCCCTGAGTCCCTGAGTCCCTGAGTCCCTGGTCCCTGAGTT TCTGAGTCTCTGGGTTCCGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0006 a0020 a0006 a0020	a0006c0010 a0020c0037 a0006c0010 a0020c0037	a0006c0010t0001 a0020c0037t0001 a0006c0010t0001 a0020c0037t0001	a0006c0010t0001g0272 a0020c0037t0001g0051 a0006c0010t0001g0272 a0020c0037t0001g0051	2	420	0.0048	-119	c.176 others(15): Show c.176+287_177-208del	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	4/22			chr19	TogoVar
DGKD_chr2_233349494_233477098	233463396	CTCCTCAC others(112): Show CTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCA TCTCCTCACTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGC ATGTCCTCACTGCACGCATG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0023 a0001c0003t0004 a0001c0004t0023	a0001c0003t0004g0247 a0001c0004t0023g0156 a0001c0004t0023g0157 a0001c0003t0004g0247 a0001c0004t0023g0156 a0001c0004t0023g0157	3	336	0.0089	-119	c.318 others(17): Show c.3187-700_3187-582del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51775737	AGTATTCT others(112): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATT CTCCTACAGTATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0232 a0002c0002t0003g0232	1	420	0.0024	-119	c.363 others(17): Show c.363+1204_363+1322del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775775	TGTATTCT others(112): Show TGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC AGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	420	0.0024	-119	c.363 others(17): Show c.363+1166_363+1284del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLD_chr7_107886183_107926198	107888675	GTCTAGCT others(112): Show GTCTAGCTCAAGGTTTGTAAATGCACCAATTAGCACTCTGTGTCTAGCTA ATCTGGTGGGGAATTGGAGAATCTTTACGTCTAGCTAAGGGATTGTGAAT GCACCAATCGTCACTCTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(121): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0004c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0003t0001 a0001c0007t0011 a0001c0012t0001 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(67): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0008g0002 a0001c0001t0008g0031 a0001c0001t0020g0004 a0001c0003t0001g0004 a0001c0003t0001g0095 a0001c0003t0001g0112 a0001c0003t0001g0120 a0001c0007t0011g0033 a0001c0012t0001g0083 a0004c0009t0001g0101	124	406	0.3054	-119	c.-25 others(11): Show c.-2575_-2457del	DLD	ENSG00000091140.15	transcript	ENST00000205402.10	protein_coding		2507		chr7	TogoVar
DLGAP2_chr8_732628_1713476	1330614	GGGAGCAC others(112): Show GGGAGCACCGCTTCACGGGGACCGAGTTCTGGGTGGGACTGAGTTCTGGG TGGGAGCACCGCTTCATGGGGACTGAGTTCTGGGTGGGATTGAGTTCTGG GTGGGAGCGCCACTTCACCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0031 a0005c0006t0002g0031	1	40	0.0250	-119	c.106 others(19): Show c.106+71735_106+71853del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452375	GGGAAAGG others(112): Show GGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0030 a0002c0020t0030	a0002c0020t0030g0125 a0002c0020t0030g0125	1	126	0.0079	-119	c.360 others(19): Show c.3603+2168_3603+2286del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33190886	AATATTAT others(112): Show AATATTATATATTATATAATATATAATATTATATATATAATATTATATAT ATATATAATATATAATATTATATATATATATAATATATAATATTATATAT ATATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	-119	c.31+ others(17): Show c.31+20277_31+20395del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DNAH3_chr16_20928111_21155846	20989302	CTCCAAGG others(112): Show CTCCAAGGCCCCACCAGAGCAGCTAGATACAGAGTGTTGATTGGTGCACT CACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAATCCT TGAGCTAGACATAAAGTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 NA19240.hp1 HG01109.hp2 HG02451.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0033 a0005c0077 a0001c0033 a0005c0077	a0001c0033t0001 a0005c0077t0001 a0001c0033t0001 a0005c0077t0001	a0001c0033t0001g0075 a0001c0033t0001g0077 a0005c0077t0001g0160 a0001c0033t0001g0075 a0001c0033t0001g0077 a0005c0077t0001g0160	3	234	0.0128	-119	c.646 others(19): Show c.6464-1356_6464-1238del	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	44/61			chr16	TogoVar
DNAI1_chr9_34453805_34525984	34482268	AGTCCTCA others(112): Show AGTCCTCACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAA ACCTTGAGCTAAACACAGGGTGCTGATTGGTGTATTTACAATCCCTGAGC TAGATATAAAGACTCTGCAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02451.hp1 others(7): Show HG01243.hp2 HG01496.hp2 HG02451.hp1 HG02647.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0007 a0001c0011 a0007c0009 a0001c0007 a0001c0011 a0007c0009	a0001c0007t0001 a0001c0011t0001 a0007c0009t0001 a0001c0007t0001 a0001c0011t0001 a0007c0009t0001	a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0045 others(7): Show a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0045 a0001c0007t0001g0046 a0001c0007t0001g0047 a0001c0011t0001g0048 a0001c0011t0001g0049 a0007c0009t0001g0230 a0007c0009t0001g0231 a0007c0009t0001g0232	10	382	0.0262	-119	c.49- others(15): Show c.49-1148_49-1030del	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(112): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGCCACACACACATACA CGCCACACACACATACACGC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18943.hp2 NA19070.hp1 others(2): Show HG03579.hp2 NA18943.hp2 NA19070.hp1 NA19084.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0004 a0003c0004t0001	a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0011g0071 others(2): Show a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0011g0071 a0001c0002t0004g0194 a0003c0004t0001g0143	5	416	0.0120	-119	c.201 others(17): Show c.2015-500_2015-382del	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EXOC6B_chr2_72170984_72831033	72422394	TGACACTC others(112): Show TGACACTCTGTATCTAGCTGGTCTGGTGGGGCCTTGGAGAACCTTTATGT CTAGCTCAGGGATTGTAAATACACCAATCAGCACCCTGTGTCTAGCTCAA GATTTGTGAGTGCACCAATC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0005 a0002c0004t0013g0005	1	104	0.0096	-119	c.198 others(21): Show c.1981-42643_1981-42525del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
F7_chr13_113100791_113125685	113107650	CGTGGGTG others(112): Show CGTGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGA GTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGG GGCGTGGGTGTCCCGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 NA18945.hp2 HG03098.hp2 HG03471.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0202	3	400	0.0075	-119	c.64+ others(15): Show c.64+1762_64+1880del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(112): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0195	1	226	0.0044	-119	c.748 others(16): Show c.748-1048_748-930del	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	124023959	TGACCTCG others(112): Show TGACCTCGGCTCACTGCAACCTCCGCCTCCCGGATTCAAGTGATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCCACCACCATGCCTA GCTAATTTTTTGTATTTTTA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0029 a0029	a0029c0030 a0029c0030	a0029c0030t0007 a0029c0030t0007	a0029c0030t0007g0150 a0029c0030t0007g0150	1	196	0.0051	-119	c.228 others(17): Show c.2286+365_2286+483del	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	18/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FEZ1_chr11_125437881_125501265	125493367	AAAGAAAG others(112): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0012 a0001c0001t0012g0013	2	356	0.0056	-119	c.-46 others(17): Show c.-46+2635_-46+2753del	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FNDC11_chr20_63549159_63561695	63559600	GAGTCAGG others(112): Show GAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGA GTCAGGGTCAGGTGGGAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02647.hp1 others(1): Show HG01891.hp2 HG02109.hp2 HG02647.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	4	416	0.0096	-119	c.29 others(11): Show c.2981_*3099del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2906		chr20	TogoVar
FTCD_chr21_46131779_46160579	46135334	CAACACCA others(112): Show CAACACCAATGTCCCCTCAAATGTCCCCTCATGGTCCCAACACCAATGTC CCCTCACAAATGTCTCCTCCCTCACGGTCCTAACATCAATGTCCCCTCAC AAATGTCCCCTCATGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(58): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01167.hp2 HG01168.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA19000.hp1 NA19005.hp2 NA19043.hp2 NA19066.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0009 a0012 a0014 a0019 a0021 a0022 a0024 a0027	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0028 a0001c0040 a0002c0006 a0002c0011 a0003c0013 a0003c0049 a0006c0053 a0006c0055 a0009c0024 a0012c0051 a0014c0046 a0019c0020 a0021c0059 a0022c0016 a0024c0048 a0027c0026	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0008t0002 a0001c0008t0003 a0001c0028t0003 a0001c0040t0001 a0002c0006t0001 a0002c0011t0003 a0002c0011t0005 a0003c0013t0002 a0003c0049t0001 a0006c0053t0001 a0006c0055t0003 a0009c0024t0003 a0012c0051t0001 a0014c0046t0002 a0019c0020t0001 a0021c0059t0001 a0022c0016t0001 a0024c0048t0002 a0027c0026t0003	a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0132 others(58): Show a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0002t0001g0050 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0121 a0001c0002t0001g0177 a0001c0003t0002g0011 a0001c0003t0002g0081 a0001c0003t0002g0158 a0001c0003t0003g0009 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0036 a0001c0003t0003g0051 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0089 a0001c0003t0003g0092 a0001c0003t0003g0095 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0110 a0001c0003t0003g0133 a0001c0003t0003g0174 a0001c0003t0005g0212 a0001c0003t0005g0213 a0001c0003t0005g0214 a0001c0003t0005g0215 a0001c0003t0005g0216 a0001c0003t0005g0217 a0001c0003t0005g0218 a0001c0003t0005g0221 a0001c0003t0008g0210 a0001c0008t0002g0197 a0001c0008t0002g0198 a0001c0008t0003g0113 a0001c0028t0003g0192 a0001c0040t0001g0183 a0002c0006t0001g0099 a0002c0011t0003g0068 a0002c0011t0005g0205 a0003c0013t0002g0077 a0003c0013t0002g0135 a0003c0049t0001g0136 a0006c0053t0001g0142 a0006c0055t0003g0080 a0009c0024t0003g0088 a0012c0051t0001g0117 a0014c0046t0002g0134 a0019c0020t0001g0179 a0021c0059t0001g0191 a0022c0016t0001g0171 a0024c0048t0002g0076 a0027c0026t0003g0129	61	230	0.2652	-119	c.15 others(11): Show c.1534_*1652del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		1444		chr21	TogoVar
GAK_chr4_844277_937316	914071	CACACAGC others(112): Show CACACAGCCCCAGCGTGCACGGCCCCACACACACAGCCCCAGCGTGCACG GCCCCACACACACAGCCCCAGCGTGCACGGCCCCCACACACACAGCCCCA GCGTGCACGGCCCCACACAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0023 a0007c0015t0001g0263	2	390	0.0051	-119	c.146 others(15): Show c.146-522_146-404del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT17_chr7_71127144_71718599	71680012	TCTCCCTT others(112): Show TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTTCCTCCCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp2 others(13): Show HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01106.hp1 HG01258.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp2 HG03490.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18983.hp2 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0003t0014	a0001c0001t0001g0042 a0001c0001t0004g0029 a0001c0001t0006g0056 others(13): Show a0001c0001t0001g0042 a0001c0001t0004g0029 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0009g0063 a0001c0001t0011g0036 a0001c0001t0011g0040 a0001c0001t0011g0049 a0001c0001t0012g0008 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0015g0076 a0001c0003t0014g0068 a0001c0003t0014g0070	16	76	0.2105	-119	c.150 others(19): Show c.1500+2709_1500+2827del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar

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