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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(698): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	326	0.0031	-705	c.38 others(11): Show c.3846_*4550del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1872		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134897	CCCGAGTG others(698): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	326	0.0031	-705	c.36 others(11): Show c.3670_*4374del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1696		chr12	TogoVar
FBXO34_chr14_55266421_55358611	55344986	CTAGGACA others(698): Show CTAGGACATTTCTGATAATAAACGGGTAGGGCTGGGTGTGGTGACTCACT CCTGTAATCCCAATACTTTGGGAGGCCAAGGTGGGAGGCTTACCTGAGTC CAGGAGTTCAGGATGATGATGGGGTCAAATGATGACCCCAACATTTATTA AAGTGAATTTACCTCTGCCTCCCCTGCTCCAAGTATGCTCAGCCACCTGT TGCCATCTCACTGGGAGGCATCACTCTTCATGTAGTTGCTGAAGCCATAG ATGAGGACCCATCCTTGACTCCTCTCCCTCATCCTCCATTTTCAGTCAGT AGTTAGAAACCTTCTTGTTATTCCTGTGAACCCATTTACTTGTCATCTCT CTACTCTTAGCACCTTAACTTAGACTCTCTTTATTTCCCACCTACCTGAA TTTCCTAAAAGCATCATCCACTTTTGAAGGCTTAGGACTTTGCGTATCTT CCCTCAGGGCTTAGCTTAGAAAATCAGGACTTCTCTGACCTGTTCCTATA CCCTCAGGTGAGCTTGGTGCTGATGTCCCCTTCTCCCTCTTCATCCATAC CTCTTCCTTCTTCTCCCCGTCTCCCCATGGGCTCTCACAGCACCCTGTGC TATCCTTCTGACACATATAACATTTGTTGTAATTGTTTGCTTTTCTGTCT CAAGGGCAGCAACTATGTTTTACTCATATTTATACCAGTGTCTAGCCCAG AGCGGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	332	0.0030	-705	c.-10 others(17): Show c.-10-5372_-10-4668del		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
HRNR_chr1_152207076_152229193	152218223	TTGACCCA others(698): Show TTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAG CCCTGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACC GTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATG ACTGTCCTGATGTAGAACCGTGTTGCCCATGGGTAGAGGAATGACCTGAG CTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCG GTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGC TTGAAGACCACCCTGAGCCAGACCTATATGGGCCATAGCTGGAAGACTGC CCGGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGA TCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCAT GCTGACCATAGCTGGAAGACGAACCTGAGCTAGATCCATGTTGTTCGCTC CTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTG ACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCCTGAGCTAG ACTTGTGACCAAAGCCAGAAGACTGGCCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCGACCGGAGCCAGACCCATGTCGGCCATAGCTGGGAGA CTGCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show HG00438.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0026 a0001c0017t0005g0151 a0001c0017t0005g0026 a0001c0017t0005g0151	4	416	0.0096	-705	c.270 others(9): Show c.2701_3405del	p.Gly others(14): Show p.Gly901_Ser1135del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	3481/9629	2701/8553	901/2850			chr1	TogoVar
IDI1_chr10_1034419_1054119	1046894	TCTACACC others(698): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTGGTCCTTTGTCTACACCACACAGCCCAGCT GCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-705	c.140 others(17): Show c.140+1265_140+1969del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(698): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03239.hp2 HG01361.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0243 a0002c0002t0001g0128 a0001c0001t0001g0243 a0002c0002t0001g0128	2	220	0.0091	-705	c.981 others(17): Show c.981+1648_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PRPF6_chr20_63976132_64038100	64011869	TCTTTCTT others(698): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT CTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCACGG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01361.hp1 others(4): Show HG01123.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 others(4): Show a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256	7	292	0.0240	-705	c.152 others(18): Show c.1524+656_1524+1360del		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012159	CGGCTTCT others(698): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATACACCTACGAG AGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATAC ACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAG AAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTT TGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGC TTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAG TCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04228.hp2 HG03654.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0214 a0001c0001t0001g0052 a0001c0001t0001g0214	2	292	0.0068	-705	c.152 others(18): Show c.1524+715_1524+1419del		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
RGPD4_chr2_107821892_107897544	107827493	GGAGGCCT others(698): Show GGAGGCCTCGACCCGGCCCGGTGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCG ACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGG GCGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCTGGCTGG GCGGCGGCGGCCTGGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGT CATGGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGG CCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGCCTCCC GACCGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTG GCCGGGCGGCGGCGGCCTCGACCTGGCCCGGAGGCGGCCTCGATGGCTCA GGCATCATGGCTCCCGACGGGCGCTGCTCCCTGACGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCGCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCG ACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATG GCTCAGGCATCATGGTTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTT GAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0016 a0020c0022t0016	a0020c0022t0016g0189 a0020c0022t0016g0190 a0020c0022t0016g0189 a0020c0022t0016g0190	2	365	0.0055	-705	c.72+ others(14): Show c.72+410_72+1114del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ADHFE1_chr8_66427504_66473907	66427916	ACTCATAC others(697): Show ACTCATACTTAACACCATGTAGCACTTACCTCCCAGAGCCTATGAAAATG AAATAATAATCGGTATTTGGCTAATTTGTACTGAGTACTCATACGCTCCA GGCCCTCGTCTAACCCTCCCTTGGACGATATTAACTCATTTATCTTATAA CCACCCTAGGAAGTATTATTATCATTATCTCGCAGGCCTTAAAACGGCCT CAACAAGTAAAATTGCTGAAGGACCAACAGTGGCACAGTCAGGATTGGAA CCCAGGCAGTGTAACTGCAGAGCGTGGCTTAGTTTCAGCACTGTACTAGA TTAATTGAACTAGACTAGGTTCTGTAACTGCAGAATCCCGGATCTCCGAG TCAGCTAGCTCACTAGGGTCGGTGCACACCCGCGCCCACTCGGGGTGGCT TCATTGCCAGAGCCACTGACTCCCAAAACAAAACGAATCTTCTACAATTA GCTCTATGTGTATCTTTGGGATGTTATCTTTCTCGGGCCACAACTAGGAA CCCTGAAAGCCGACTATGACTCCAGTGAAACTATTTGGCCCTAAGAAGGG TGATTGTCTAAACATCTTCACAACGGATTTACACTGAAATTGTAACACGC ACTTGATTGGAACCCCACACCACAGGCAGTCCCAGGAATTTGTACCCGCC CCGGTCCCGGACCGCGCCCCTGGACAAACCCTCCGGCCCGCCCCTCCGGA TTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0108	1	400	0.0025	-704	c.-46 others(11): Show c.-4600_-3897del		ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding					4587		chr8	TogoVar
CPNE7_chr16_89570758_89602246	89580623	CTCACCTG others(697): Show CTCACCTGTCACACGGAACATCCCATCACCCGTCACATGGAACATCCCAT CACCCATCACACGGAACATCTCACCTGTCACACGGAACATCCCGTCACCC GCTGACACAGAACATCTCACCCATCACACGGAACATCCCATCACCCGCTG ACACAGAACATCTCACCCGTCACACGGAACATCCCGTCACCTGTAACACG GAACATCCCGTCACCCATCACACGGAACATCCCATCACCCGTCACACGGA ACATGCCATCACCCGTCACACGGAACATCCCATCACCCGTCACATGGAAC ATCTCACCCATCACACGGAACATCCCGTCACCCGCTGACATGGAACATCT CACCCATCACACGGAACATCCCATCACCTGTCACACGGAACATCCCGTCA CCCGTCACACGGAACATCCCGTAACCCATCACATGGAACATCCCGTCACC TGTCACACGGAACATCCCATCACCCGTCACATGGAACATCTCACCAATCA CACAGAACATCTCACCCATCACATGGAACATCCCGTCACCCGTCACACGG AACATTCCGTCTCCCGCTGACACGGAATATCTGATCACCCATCACATGGA ACATCCCATCACCCACTCACACGGAACATCCGATCACCCGTCACACGGAA CATCCTGTCACCAGTCACACAGAACATCCCGTCACCCATCACACGGAACA TCCCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG01109.hp2 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0020 a0001c0001 a0004c0020	a0001c0001t0001 a0004c0020t0001 a0001c0001t0001 a0004c0020t0001	a0001c0001t0001g0331 a0004c0020t0001g0332 a0001c0001t0001g0331 a0004c0020t0001g0332	2	346	0.0058	-704	c.357 others(17): Show c.357+2908_358-2365del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DIRAS1_chr19_2709567_2726372	2713600	TCCCATCC others(697): Show TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT TCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTCCTACAC CCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCAACCC TTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03239.hp1 HG00408.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0072 a0001c0001t0001g0004 a0001c0001t0001g0072	2	381	0.0052	-704	c.29 others(11): Show c.2906_*3609del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					966		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713618	ACACCCGT others(697): Show ACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTC CTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCA CCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCT CCACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCACCACCTTCTCAACCCTTCACCCCATCCCTCACT TCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	385	0.0026	-704	c.28 others(11): Show c.2888_*3591del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					948		chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(697): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	292	0.0034	-704	c.13 others(11): Show c.1398_*2101del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1277		chr2	TogoVar
IFIH1_chr2_162262074_162323684	162302484	AGACTAAA others(697): Show AGACTAAACATTATCAATATCAAGAAGATACACAAAACAAAACTACACAA ATGCATATTAGAAGCTATGGAGCACTTTCACATTTACCTTGATTGTTACT TCTGTCAGAAAATGCCTATGCAGGCAAAACCCTTCCATAGTAAATTCTGC AACAAAAACTTCAATCAAAAGAACTCAATAATTTCTCTGGACTAATGGTA CTTTATAAGTTATTAATATCAGTAATTCTTAGTCCTTAAGATAACAAGGA AACAAACAGATACCTGGAATGACAGCAGCAGTCTAAAGCAAAGGTCTGAA GCAAACACACTACATTTTCATAAATAAGTGACTCTTTGCTAGTGCTCTGG AAAGGGCCAGAATGGATTAAACTAACCTGCTTTCAAATCCACATGAGAAA TCCAGATATCATAAAGAACCTATGGACTAGAAGACCATTAAGATGTTTGT GAATTGGATGGATCCTCGGATTACTGTGCAGTTTACTGTATACTCTTACA TGCTCTCAGACTATTATATATTTTAATACTCTGTACTACTCTTTCATGGC ACTTACTAAAAGTGTAGCTATACAGTTACTACTGCTGGGCCGACACCTCC CTCAGTGGAAAGCTCCATGGGGGCTGAAGTCATTTCTTTTTTTTTGAGAC GGAGTTTTTTTGTTCTTATTGCTCAGGCTGGAGTGCAATGGTGCAATCTT GGCTC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	218	0.0046	-704	c.769 others(17): Show c.769+3521_769+4224del		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	3/15						chr2	TogoVar
KIAA1586_chr6_57041693_57060225	57050957	CGGTGGCT others(697): Show CGGTGGCTCTCGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTTGG ATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAGCAAGGTGAAACC CCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCTTGGTGGCACATGC CTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCT GGGAGGTGAAGGTTGCAGTGAGCCGAGATCATGCCATTGTGCTCTACCCT GGGCAACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAAAATCTAATCG TTAAACTTTCAGGAATTTTGTGAGCTGATTGTAAACATAACAGTTATTAC AAATTAAAGTATATAAATGCACAAGTACATAAATGATCATATTTAATACA TCATTTCCTACTTAATACATCATTTCCTACTATCTGTGCACTTGAGGTTA TTTGCATCTATTGGTAGAAATACTATTAATACATAATAGTGTCCTGCTGC AGTATTGATAGAACATTACCCCATTGTAATCAGTAAAATACAAACTAGAA TTTGATTTATTATTTGTTGATTAAACTTAAGAAAGTGAAGGATAGAATGT TAATGCAGATTAAATTTCAAAGTGTGATGTGTCTCTGCTAGACTAAATGC AATACAAAAAAATTGAGGAAGTTGCTTTGCAATATTCCAAAACTCGGCCA GGCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 NA19030.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	3	330	0.0091	-704	c.186 others(15): Show c.186+112_186+815del		KIAA1586	ENSG00000168116.14	transcript	ENST00000370733.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
KIAA1586_chr6_57041693_57060225	57050996	GAGGCGGT others(697): Show GAGGCGGTTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAGC AAGGTGAAACCCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCTTG GTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CACTTGAACCTGGGAGGTGAAGGTTGCAGTGAGCCGAGATCATGCCATTG TGCTCTACCCTGGGCAACAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAA AAATCTAATCGTTAAACTTTCAGGAATTTTGTGAGCTGATTGTAAACATA ACAGTTATTACAAATTAAAGTATATAAATGCACAAGTACATAAATGATCA TATTTAATACATCATTTCCTACTTAATACATCATTTCCTACTATCTGTGC ACTTGAGGTTATTTGCATCTATTGGTAGAAATACTATTAATACATAATAG TGTCCTGCTGCAGTATTGATAGAACATTACCCCATTGTAATCAGTAAAAT ACAAACTAGAATTTGATTTATTATTTGTTGATTAAACTTAAGAAAGTGAA GGATAGAATGTTAATGCAGATTAAATTTCAAAGTGTGATGTGTCTCTGCT AGACTAAATGCAATACAAAAAAATTGAGGAAGTTGCTTTGCAATATTCCA AAACTCGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG02258.hp1 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	330	0.0061	-704	c.186 others(15): Show c.186+147_186+850del		KIAA1586	ENSG00000168116.14	transcript	ENST00000370733.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(697): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0019 a0003c0007t0002g0019	1	297	0.0034	-704	c.-37 others(11): Show c.-3714_-3011del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3629		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149036	CGCCGCCT others(697): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0026 a0007c0009t0001g0026	1	274	0.0036	-704	c.901 others(15): Show c.901+150_901+853del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31510684	TACATATG others(697): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATGTATATC TATATGTAACATATGTATATCTATATGTAACATACATGTATATCTATATG TAACATACATGTATATCTATATGTAACATACATATATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACACACATATGTATATCTATATGTAACACACATACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACACACATATATATGTATATCTATAT GTAAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(12): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02300.hp1 HG02300.hp2 HG03579.hp1 HG03710.hp2 NA18990.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 a0001c0001t0029 a0001c0001t0074 a0001c0001t0082	a0001c0001t0004g0105 a0001c0001t0005g0108 a0001c0001t0005g0232 others(12): Show a0001c0001t0004g0105 a0001c0001t0005g0108 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0121 a0001c0001t0006g0152 a0001c0001t0014g0125 a0001c0001t0014g0146 a0001c0001t0025g0136 a0001c0001t0029g0063 a0001c0001t0074g0131 a0001c0001t0082g0132	15	228	0.0658	-704	c.894 others(17): Show c.894-7570_894-6867del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PCSK5_chr9_75885673_76367975	76251302	GCCTGTAA others(697): Show GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTC AGAAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTATTAA AAATACAAAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAATCCCAGC TACTCTGGAGGCTGAGACGGAGAATTGCTTAAACCTGGAGGGACGGAGCT TGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAGACAGAAAGAAAAAGAAAAGT ACTTCAACATTAGAATGATTCCATTAATATTCTCTTTGCTGATTCTGTAT AATACAGTAACTGAATTGCTAGCATTTATTGAATACTTACTAATGTGCCA GGTGCTGTACTAAGTTTTTTAAGTATATTACCTGACTTAACTCTATGGAA TAGATATAATAATTATTGTTCTCATTTTTCAGCTGAAGACATAAAGGTCA GAACATTTAGAAATGTGGATAAGTTCACTAGGCTGGTAACTAGTAGAATC AGGACTTGACCCTGAATAGCCCCAGACCAAAACTCATGTATTTTATTACA TTCCAATCATACTAGCTAATGTTCTTCCCTTCTGATTCTAGAGCAGAATA TTATGCTTTTTTGCAATTATAAAAAGATAAAAGAGGCCGGGCGTGGTGGC TCACA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG02895.hp1 HG03225.hp2	a0019 a0026 a0019 a0026	a0019c0091 a0026c0093 a0019c0091 a0026c0093	a0019c0091t0004 a0026c0093t0004 a0019c0091t0004 a0026c0093t0004	a0019c0091t0004g0164 a0026c0093t0004g0051 a0019c0091t0004g0164 a0026c0093t0004g0051	2	164	0.0122	-704	c.314 others(21): Show c.3142+10646_3142+11349del		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
RRS1_chr8_66424014_66435733	66427916	ACTCATAC others(697): Show ACTCATACTTAACACCATGTAGCACTTACCTCCCAGAGCCTATGAAAATG AAATAATAATCGGTATTTGGCTAATTTGTACTGAGTACTCATACGCTCCA GGCCCTCGTCTAACCCTCCCTTGGACGATATTAACTCATTTATCTTATAA CCACCCTAGGAAGTATTATTATCATTATCTCGCAGGCCTTAAAACGGCCT CAACAAGTAAAATTGCTGAAGGACCAACAGTGGCACAGTCAGGATTGGAA CCCAGGCAGTGTAACTGCAGAGCGTGGCTTAGTTTCAGCACTGTACTAGA TTAATTGAACTAGACTAGGTTCTGTAACTGCAGAATCCCGGATCTCCGAG TCAGCTAGCTCACTAGGGTCGGTGCACACCCGCGCCCACTCGGGGTGGCT TCATTGCCAGAGCCACTGACTCCCAAAACAAAACGAATCTTCTACAATTA GCTCTATGTGTATCTTTGGGATGTTATCTTTCTCGGGCCACAACTAGGAA CCCTGAAAGCCGACTATGACTCCAGTGAAACTATTTGGCCCTAAGAAGGG TGATTGTCTAAACATCTTCACAACGGATTTACACTGAAATTGTAACACGC ACTTGATTGGAACCCCACACCACAGGCAGTCCCAGGAATTTGTACCCGCC CCGGTCCCGGACCGCGCCCCTGGACAAACCCTCCGGCCCGCCCCTCCGGA TTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-704	c.-12 others(10): Show c.-1215_-512del		RRS1	ENSG00000179041.4	transcript	ENST00000320270.4	protein_coding					1097		chr8	TogoVar
SPDYE12_chr7_74899289_74920078	74908678	TTTTTTTT others(697): Show TTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCGCCCAGGCTGGAGTG CAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTCCCTCAGTCCTCAGAGTAGCTGGGACTACAGGCGCCCGCCAC CACACCCGGCTAATTTTTGTATTTTTTTTTTTTTAAGTGGAGACAGGGTT TCACCATGTTAGCCAGGATGGTCTTGCTCTCCTGACCTTGTGATCCGCCC ACCTCGGCCTCCCAAACTGTTGAGATTACAGGCGTGAGCCACCGCACCTG GCCTGTTTTACTCTTGTATTTGTACACTGGCATTGGAGTTTGGTTTTTTT GCCTGGTTTTTTTTTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTGAGAAA AAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAACCTTAGCAT ACTGCAACCTCCACCTCCTGGGTTCAAGGGGTTCTCTTGCCTCAGCCTCC CAAGTAGCTTGGATTACAGGTGCACACCAACATGCCCGACTGATTTTTCT ATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAAC TCCTGACCTCAGGTGATCCGCTTGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCCTGAGCCACCATGCACAGCCTGAGTTTCTTTTTAGAAATAACAG TCTAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	348	0.0029	-704	c.494 others(15): Show c.494+140_494+843del		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	5/7						chr7	TogoVar
ZCCHC2_chr18_62518025_62583579	62580517	TGCTGTGG others(697): Show TGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGT GGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGG CCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGT GGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCC CTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCG AGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGG TGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCAC AGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCT GTGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAA GGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAG GTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGAC CCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCC CGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGAT GGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTC ACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01099.hp2 others(14): Show HG00639.hp1 HG00639.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01346.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp2 HG02300.hp2 HG02698.hp2 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0024 a0001c0004 a0002c0024	a0001c0004t0003 a0001c0004t0015 a0002c0024t0003 a0001c0004t0003 a0001c0004t0015 a0002c0024t0003	a0001c0004t0003g0007 a0001c0004t0003g0038 a0001c0004t0003g0057 others(13): Show a0001c0004t0003g0007 a0001c0004t0003g0038 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0059 a0001c0004t0003g0062 a0001c0004t0003g0063 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0070 a0001c0004t0003g0071 a0001c0004t0003g0082 a0001c0004t0003g0224 a0001c0004t0015g0060 a0001c0004t0015g0081 a0002c0024t0003g0147	17	278	0.0612	-704	c.39 others(11): Show c.3939_*4642del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					1939		chr18	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(696): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0010 a0002c0010t0010	a0002c0010t0010g0197 a0002c0010t0010g0197	1	131	0.0076	-703	c.226 others(19): Show c.2268-4108_2268-3406del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805559	CTCCCCCC others(696): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG03453.hp1 HG01515.hp2 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0059 a0004c0004t0001g0028 a0001c0001t0001g0059 a0004c0004t0001g0028	2	294	0.0068	-703	c.13 others(11): Show c.1394_*2096del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1273		chr2	TogoVar
NDUFAF2_chr5_60940205_61158026	60961616	ATTAGCCA others(696): Show ATTAGCCAGACATGGTGGCAAATGCCTGTAATTCCAGCTACTCAGGAGGC TGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCG AGATTGTGCCACCACACTCTAGCCTGGGCAACAGAAGGAGACTCTGTCTC AAAAAAAAAAAAAAAAAAATTTACTATGTAATTGCAACCTTAGCTAATTA TTAGAATTAAGAATGAATCAGTATCTGTGGTCCTACTTAGGAAGCTTTGG TAGCAGGATCGCTTGAGCTCAGGAGTTTGAGGTTACAGTTAACTATGATT GCATCACTGCACTCCAGCCTGAGTGACACAGCAAGACTCTTTCTCTAAAA AAAAAAAAATCTTAAAAAAGAATGAATTAAGTACTATTTTTTCCTCCAGC TTTATTGAAGTTCAATTTATAAATACAAATTGTATATATTTATATTGTTG AGTATGCTTGAACACCATAAATATATGTATACATTGATATATACTTCGTG ATTACCACAATCAAGCTTAGGCAACATATCTTTCACCTCACATAGTTATC TTGGTTTTTTTTTTTTGTAGTGAACAAGTACTGATTTTTTTAACATAGGT TTTCTGACAAAACTATGATAGCACAATATGACATTCTTCTTTTCACATTT GTCTCCATGGAATTAACAAAAGTGACTTTTTTTGCAAAAGTTGAAAGCAT CATC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	264	0.0038	-703	c.127 others(19): Show c.127+16235_127+16937del		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3						chr5	TogoVar
NEU4_chr2_241804193_241822413	241805542	GACCTCCG others(696): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	298	0.0034	-703	c.-37 others(11): Show c.-3735_-3033del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3650		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805559	CTCCCCCC others(696): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03453.hp1 HG01515.hp2 HG03453.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0006c0011 a0001c0004 a0006c0011	a0001c0004t0001 a0006c0011t0007 a0001c0004t0001 a0006c0011t0007	a0001c0004t0001g0113 a0006c0011t0007g0011 a0001c0004t0001g0113 a0006c0011t0007g0011	2	292	0.0068	-703	c.-37 others(11): Show c.-3718_-3016del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3633		chr2	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110067915	TAATTTTG others(696): Show TAATTTTGTCTGTTTAAATTTTGATGCTTTCATTTTGACAAAATCTTTTA AGAATAATGACGAGGCTGCAGTGATTGAAATACAATTTGTGTGGCTTTTA GGCAAGTGAGCATTTAGCAAGTAAGAATTTCCCAGATTGGGTTTAGAGTT GTATTTGCTTATGTTCCAAACTCTTTTTTTTTTTTTTTTTGGTAAGATAA TTTTGAATATCAGTAGAACTTGGGGCAGATAGAATGACAGAACATGGAAT GTGTAATCCTTTTGGGATTTGTATCTTAGTTAAGTAAACTTTCATGATGG ATTAAGGAGGACAAAGTCTCCAGCAGATTTCACTTGGCTGATTTTGTTTT TCTGTTCTTTTTCTGTTTTCCTGATGAGGCTTCTGTACTTCTCCCTTTAA GGAGGCAACTGAATAGCATGAAAATAAGGGGTATGGGTGGTGGTAGTTGC TGAGGGGAATGACAATGGATTTGGTAACACAGCATGCTAATATCATGCAA ATAATGAGATGATATAGGAATCTCTGCTCTAGTGGTGGGTCTGAGGTTTG CTCTAGTGGTGGGTCTGAGGTTTTCTCTACTGAGGGCAAAATTGGAGCTT TTTTAAAAAAAAAAAAAAATTTAATTTTTTTTTGAGACAGGGTCTCCTTC TGTTGCCCAGGCTGGAGTGTAGTGGTGCCATCACAGCTCACTGCAGCCTC CATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02622.hp2 others(9): Show HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0004 a0003c0003 others(2): Show a0001c0001 a0002c0004 a0003c0003 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0031 a0002c0004t0001 a0003c0003t0001 a0005c0008t0006 a0006c0009t0014	a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0002g0174 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0002g0174 a0001c0001t0011g0146 a0001c0001t0031g0177 a0002c0004t0001g0219 a0003c0003t0001g0144 a0005c0008t0006g0076 a0005c0008t0006g0143 a0005c0008t0006g0167 a0005c0008t0006g0173 a0006c0009t0014g0135	12	220	0.0545	-703	c.582 others(19): Show c.582+51877_582+52579del		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10						chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2122141	GGTGGTTA others(696): Show GGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGG TTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGT GGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGT TAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTT AGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGT GGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTG GTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAG GGTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0185 a0001c0003t0003g0185	1	258	0.0039	-703	c.335 others(19): Show c.335-13115_335-12413del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80315066	GTGGTGGT others(696): Show GTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTAAAGGT GATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTAA TGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTG GTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGA GGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGG TGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGGCGGTCGTGGAGGTG ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGG TGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTG GAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTCGTGGAGGTGATGGT GGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGG TGGTCCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGT ACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAGTGA TGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGACAGTGGTG ATGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01106.hp1 others(19): Show HG00544.hp2 HG01069.hp1 HG01106.hp1 HG02055.hp1 HG02083.hp1 HG02148.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG04204.hp1 NA18906.hp1 NA19043.hp1 NA19066.hp2 NA19087.hp1	a0001 a0013 a0014 others(9): Show a0001 a0013 a0014 a0029 a0030 a0032 a0036 a0066 a0076 a0081 a0087 a0097	a0001c0001 a0001c0006 a0001c0071 others(13): Show a0001c0001 a0001c0006 a0001c0071 a0001c0072 a0001c0125 a0013c0020 a0014c0017 a0029c0032 a0030c0031 a0032c0141 a0036c0143 a0066c0092 a0076c0119 a0081c0116 a0087c0040 a0097c0114	a0001c0001t0001 a0001c0001t0019 a0001c0006t0007 others(14): Show a0001c0001t0001 a0001c0001t0019 a0001c0006t0007 a0001c0071t0001 a0001c0072t0001 a0001c0125t0010 a0013c0020t0002 a0014c0017t0003 a0029c0032t0015 a0030c0031t0003 a0032c0141t0001 a0036c0143t0011 a0066c0092t0015 a0076c0119t0031 a0081c0116t0009 a0087c0040t0002 a0097c0114t0049	a0001c0001t0001g0160 a0001c0001t0019g0046 a0001c0006t0007g0129 others(19): Show a0001c0001t0001g0160 a0001c0001t0019g0046 a0001c0006t0007g0129 a0001c0071t0001g0052 a0001c0072t0001g0038 a0001c0125t0010g0070 a0013c0020t0002g0002 a0013c0020t0002g0268 a0013c0020t0002g0277 a0014c0017t0003g0089 a0014c0017t0003g0090 a0014c0017t0003g0097 a0029c0032t0015g0021 a0029c0032t0015g0022 a0030c0031t0003g0026 a0032c0141t0001g0179 a0036c0143t0011g0176 a0066c0092t0015g0279 a0076c0119t0031g0246 a0081c0116t0009g0238 a0087c0040t0002g0230 a0097c0114t0049g0269	22	287	0.0767	-703	c.281 others(19): Show c.2811+1908_2812-1411del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPDYE12_chr7_74899289_74920078	74908679	TTTTTTTT others(696): Show TTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCGCCCAGGCTGGAGTGC AGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCA TTCTCCTCCCTCAGTCCTCAGAGTAGCTGGGACTACAGGCGCCCGCCACC ACACCCGGCTAATTTTTGTATTTTTTTTTTTTTAAGTGGAGACAGGGTTT CACCATGTTAGCCAGGATGGTCTTGCTCTCCTGACCTTGTGATCCGCCCA CCTCGGCCTCCCAAACTGTTGAGATTACAGGCGTGAGCCACCGCACCTGG CCTGTTTTACTCTTGTATTTGTACACTGGCATTGGAGTTTGGTTTTTTTG CCTGGTTTTTTTTTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTGAGAAAA AGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAACCTTAGCATA CTGCAACCTCCACCTCCTGGGTTCAAGGGGTTCTCTTGCCTCAGCCTCCC AAGTAGCTTGGATTACAGGTGCACACCAACATGCCCGACTGATTTTTCTA TTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACT CCTGACCTCAGGTGATCCGCTTGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCCTGAGCCACCATGCACAGCCTGAGTTTCTTTTTAGAAATAACAGT CTAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 HG01346.hp2 others(2): Show HG01071.hp1 HG01255.hp2 HG01346.hp2 HG02071.hp2 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0017 a0003c0003t0001 a0003c0003t0017	a0003c0003t0001g0022 a0003c0003t0001g0035 a0003c0003t0017g0131 a0003c0003t0001g0022 a0003c0003t0001g0035 a0003c0003t0017g0131	5	348	0.0144	-703	c.494 others(15): Show c.494+140_494+842del		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	5/7						chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24316820	GGGCAGAG others(696): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA ACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCCGAGGAGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAGGGGGTGGC TGGCCGGGCGGTGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCTGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGG GCGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCGGACGGGGCGGCT GGCTGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00639.hp1 others(70): Show HG00140.hp2 HG00408.hp2 HG00639.hp1 HG01069.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0005c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0005c0007t0032	a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(69): Show a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0291 a0001c0002t0002g0306 a0001c0002t0002g0318 a0001c0002t0010g0064 a0001c0002t0010g0087 a0001c0002t0010g0090 a0001c0002t0010g0104 a0001c0002t0010g0196 a0001c0002t0011g0110 a0001c0002t0011g0111 a0001c0002t0011g0112 a0001c0002t0011g0122 a0001c0002t0018g0130 a0001c0002t0020g0138 a0001c0002t0021g0086 a0001c0002t0030g0106 a0001c0004t0002g0113 a0001c0004t0002g0114 a0002c0003t0001g0038 a0002c0003t0002g0095 a0002c0003t0002g0100 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0002g0103 a0002c0003t0002g0116 a0005c0007t0032g0119	73	324	0.2253	-703	c.307 others(17): Show c.307+3408_308-3712del		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
CNN2_chr19_1021608_1044065	1034390	GACGGTGT others(695): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACG GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGG GTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACGGTGTCTGGTGTATACCGGGAGCGTGGGTGG GAC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0083 a0001c0001t0015g0083	1	286	0.0035	-702	c.390 others(17): Show c.390+1713_391-1020del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	1375086	ACCTCAGA others(695): Show ACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTC CACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAACGACCCC TCTCCACGGCCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAACGA CACCTCTCCACGACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTA ACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGG GTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACAT TTGGGTTAACGACACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCT ACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACC TCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCC CACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAG CCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAAC TGAGCCCCCACCTCCTACATTTGGGTTAACGACCCCTCTCCACGGCCTCA GAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGC CTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCA CGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp2 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0002t0006g0011 a0001c0003t0001g0026	2	32	0.0625	-702	c.106 others(21): Show c.106+116257_106+116958del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
HRNR_chr1_152207076_152229193	152216177	TAGAAGAC others(695): Show TAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATGTAGA ACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGCTGAC TGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGACAGAA GAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAACGACCTGA GCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACCGGACCCAT GTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTCGGCCGTGG CCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGGGAAGACGA ACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTAG AGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTGA CTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAGA AGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGAAGACCGACCGG AGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTGACCCAGACCCA CGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCATA GCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02647.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0142 a0001c0149 a0001c0142 a0001c0149	a0001c0142t0001 a0001c0149t0001 a0001c0142t0001 a0001c0149t0001	a0001c0142t0001g0057 a0001c0149t0001g0064 a0001c0142t0001g0057 a0001c0149t0001g0064	2	416	0.0048	-702	c.475 others(9): Show c.4750_5451del	p.Gly others(15): Show p.Gly1584_Ser1817del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5527/9629	4750/8553	1584/2850			chr1	TogoVar
IL3RA_chrX_1331785_1387689	1368927	CGACCCTG others(695): Show CGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAG AAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGC ACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAA CCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGG GAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTG ACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGA CACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGG CGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGG GAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp1 HG02148.hp2 others(3): Show HG02027.hp1 HG02080.hp1 HG02148.hp2 HG02300.hp2 NA19004.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0102 a0001c0001t0002g0074	6	113	0.0531	-702	c.874 others(17): Show c.874+3910_874+4611del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132772011	AGAGGCCA others(695): Show AGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGC ACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGA CACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGA CGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGT GGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAA GAGTGGGACGGACACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCA CGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCAC CCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAG CCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACG GCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGC CACGGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAG AGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGAC ACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG04199.hp2 HG00621.hp1 HG01109.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0001 a0001c0001t0010 a0002c0002t0001	a0001c0001t0010g0047 a0001c0001t0010g0048 a0002c0002t0001g0061 a0001c0001t0010g0047 a0001c0001t0010g0048 a0002c0002t0001g0061	3	197	0.0152	-702	c.978 others(17): Show c.978-5651_978-4950del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
L3MBTL4_chr18_5949717_6419911	6272635	GGAGTTGT others(695): Show GGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTT CTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCA GGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATA AGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCT ACAGAGTGGTGCCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAGATTC AACTAGGACTGAATATAAGGAATACAGAAGAGTTCTGACAGCCCCACTGC ATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGG GAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGT TCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTC AGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATAT AAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTC TACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATT CAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTG CATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAG GGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19240.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0094 a0002c0002t0001g0008 a0001c0001t0005g0094 a0002c0002t0001g0008	2	31	0.0645	-702	c.128 others(17): Show c.128-9299_128-8598del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
MED27_chr9_131855112_132084867	132039644	GAACCCTA others(695): Show GAACCCTACTTCAAAGGAGAGTGAGTGAACACCCTGTGTCCCAAGGACGA GTGGAAGAGGACCCAGGAAGCCAGAGTCCACCTGCTTGGCAATCCCTCCT ACCCCTTAACCGCCACTGTGTGCTCCGTTCAGTGCTGGCCCTGGGGAGAA AAAGACACTCAAGACAGGGTCCTGCCTCTAGGAGTTTCACTGGCTACAAA GGACACCACTCGCCTCTGTGACTGCAGGTCCCTCCCTTATAAAAGATAGT ACTTCTGTGGCCTCTCTGCTAATTCTGAAATTTCATGATTCCAAGCTTTG TTTTGTTGTCTTGTTTCATAAGACCATAGAAGGGTGAAAAGTATCAATAA AAAAGTGGGACATTTTGATAAAGAGAAAATACACAATATTCCCCTTTCAC ATACACTTTACGATATGATAAATTTCACTCATACCACTACACCAATATCA GCTCCTTATACATCACTTTTCAAAATGCTGTCAGCTACAAATTGATGACC TGTGAGATTTCACCTTGTCGTGCTCAGCATCAGTCCCCGCATATGGGCTG CCCAGCACTAAACAAAGCTGCTGCCAGCCACCAGGGGCCTCAGTCTCTTC CCTGCGGCGGGGAAATGAATTATTAAAAGATTAAAAAGCAAATGCCATCA CCTTTTTGCTTTATTTCCCTGTGGGAGAATACTTTAAACCAAACTAGGTA AGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	272	0.0037	-702	c.349 others(19): Show c.349-25879_349-25178del		MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	2/7						chr9	TogoVar
RASA3_chr13_113972783_114137623	114084094	ACGGGGAA others(695): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAA TCC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	64	0.0156	-702	c.56- others(17): Show c.56-10959_56-10258del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114084887	CTCCTCGC others(695): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	55	0.0182	-702	c.56- others(17): Show c.56-11752_56-11051del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086254	CCGGGGAA others(695): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02300.hp1 HG01943.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0059 a0001c0001t0006g0012 a0001c0001t0001g0059 a0001c0001t0006g0012	2	50	0.0400	-702	c.56- others(17): Show c.56-13119_56-12418del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086345	CTCCTCGC others(695): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCA CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTC GCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	62	0.0161	-702	c.56- others(17): Show c.56-13210_56-12509del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6907737	ATTTTTTT others(695): Show ATTTTTTTGCATTTTTTAGTAGAGATAGGGTTTCACCATTTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGGTGAACCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCCCCATGCCCGGCCAGCTTCTGTGGTT GGCTGGCAGTCATGGGTGCTCCTTGCTTGTAGATATGTCACCTGAATCTC CACCTGCATGTTTACATAGAGTTCTCCCCGTGAGCATGGATGTCTCTGTG TCTCTATTTTCCCTTTTAGTGAGGACATGGTCATATTGGATTAGGGCCTA TCCAAATCATCTTTACTTGATCTTCTGCAGAGACCCCATTTCCAATAAGG TCACATTCACAGCTACTGGGGGTTAGGACATCCACATGTTTTGGAGGGAA ACAATTCAGCTCCTAACAATCTACTTCTCTGCATCCCTACATCCGTGCAG TTCAGATTATTACCTCTGCTCAGCATTGTGTTGCCTGAGATCTGGCATTT CATCTTCTCTCCTCCAGCCTTTCGGGTGTCCTCTCCTGCGGCTCTGGGCA GGCCTGCACCCCCAGCCTCTGACCATGGCTTGGGCCTGTCTTGTTCATCC AAGTTACTCTGCCTTTGCACCCTTCTAACCCCGATGTGTGTCTGTCTGCC TGCCTTCTCTTTCCTCCCAGGAACCTTTGACTTTTCCACTGATACCTCTG GCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	68	0.0147	-702	c.-15 others(21): Show c.-15-144318_-15-143617del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RPTOR_chr17_80539838_80971368	80743695	CCCTGGCT others(695): Show CCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTA TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01070.hp1 others(18): Show HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01099.hp2 HG01169.hp2 HG01258.hp1 HG02015.hp2 HG02129.hp2 HG02486.hp1 HG02895.hp1 HG02976.hp2 HG03491.hp2 NA18944.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0044 a0001c0049 a0001c0055 a0001c0076 a0001c0078 a0001c0080 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(18): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0038 a0001c0004t0014 a0001c0006t0022 a0001c0008t0021 a0001c0013t0021 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0021t0018 a0001c0022t0022 a0001c0044t0045 a0001c0049t0011 a0001c0055t0049 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0003c0069t0044	a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(18): Show a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0003t0038g0090 a0001c0004t0014g0084 a0001c0006t0022g0093 a0001c0008t0021g0094 a0001c0013t0021g0096 a0001c0017t0015g0085 a0001c0019t0042g0092 a0001c0020t0048g0097 a0001c0021t0018g0014 a0001c0022t0022g0098 a0001c0044t0045g0083 a0001c0049t0011g0081 a0001c0055t0049g0086 a0001c0076t0011g0087 a0001c0078t0041g0103 a0001c0080t0011g0080 a0003c0069t0044g0102	21	181	0.1160	-702	c.655 others(18): Show c.655-10299_655-9598del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744173	TAGCACTA others(695): Show TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0016t0031g0010 a0001c0016t0031g0011	2	188	0.0106	-702	c.655 others(17): Show c.655-9831_655-9130del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPDYE12_chr7_74899289_74920078	74908680	TTTTTTTT others(695): Show TTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCGCCCAGGCTGGAGTGCA GTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCAT TCTCCTCCCTCAGTCCTCAGAGTAGCTGGGACTACAGGCGCCCGCCACCA CACCCGGCTAATTTTTGTATTTTTTTTTTTTTAAGTGGAGACAGGGTTTC ACCATGTTAGCCAGGATGGTCTTGCTCTCCTGACCTTGTGATCCGCCCAC CTCGGCCTCCCAAACTGTTGAGATTACAGGCGTGAGCCACCGCACCTGGC CTGTTTTACTCTTGTATTTGTACACTGGCATTGGAGTTTGGTTTTTTTGC CTGGTTTTTTTTTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTGAGAAAAA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAACCTTAGCATAC TGCAACCTCCACCTCCTGGGTTCAAGGGGTTCTCTTGCCTCAGCCTCCCA AGTAGCTTGGATTACAGGTGCACACCAACATGCCCGACTGATTTTTCTAT TTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTC CTGACCTCAGGTGATCCGCTTGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGGCCTGAGCCACCATGCACAGCCTGAGTTTCTTTTTAGAAATAACAGTC TAA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0035 a0003c0003t0001g0035	1	348	0.0029	-702	c.494 others(15): Show c.494+140_494+841del		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	5/7						chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24316827	GGGGCTCC others(695): Show GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCCGAGGAGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAGGGGGTGGCTGGCCGG GCGGTGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCTGG GCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCTGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCGGACGGGGCGGCTGGCTGGG CAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC AGA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	324	0.0031	-702	c.307 others(17): Show c.307+3365_308-3756del		SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr22	TogoVar

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