Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC200_chr17_43216420_43233623	43232837	GCCCTGGT others(779): Show GCCCTGGTTACTTAGCAGGCCTTGGTCTAGCGGTGGCCCCAGTGCCTGGG AAGGCACCCGTTACTTAGCAGAATTACTACGCAGCCATAAAAAAGGATGA GTTCATGACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCCTCATTCTCAG CAAACTGACACAGGAAGCGAAAACAAACACCGCATGTTCTCGCTCCTAAG TGGGAGTTGAACAGCGAGAACACATGGGACACAGGGAGGGGAACATCACA CGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAGAGCATTAGGA CAAATAGCCAACGCATGCGGGGCTTCAAACCTAGACGACTGGTGGATAGG TGCAGCAAAGCACCGTGGCACACGTGTACCTATGTTCCAAACCTGCACGT CCTGCACATGTACCCCAGAACTTGGGAGGGGGTGGGGGAAACCAAAAGAG CGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGAAAGAGAGAGA GAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAG AGAGACAGAGAGAGAGACAGAGAGACGGAGAGACAGAGAGAGAGAGAGAG AAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGGAGAAAGAAG AACTCCGGGTGGGTCCCATTCCTTTAAAAGGTCGCCACCCACTCGACTGC CAAGCTGAGATCCTAAGGACCTCCCCAAAGGAGGAGGTCGTGGCCTTCCC AAAGCGCAGTAGCCACGGTGGAAACGACAGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	332	0.0030	-786	c.-50 others(11): Show c.-5069_-4284del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		4215		chr17	TogoVar
DGKB_chr7_14140049_14907751	14211599	TTACTCTC others(779): Show TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTT TACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	146	0.0068	-786	c.212 others(21): Show c.2123-34234_2123-33449del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
LMF1_chr16_848634_975984	960628	GACAGACT others(779): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAACACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATC ACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0030	1	276	0.0036	-786	c.194 others(17): Show c.194-6748_194-5963del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(779): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACAC ATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTA ACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0227 a0001c0001t0097g0227	1	235	0.0043	-786	c.894 others(17): Show c.894-7806_894-7021del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288890	TGTCCCTG others(779): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0113 a0002c0003t0004g0113	1	281	0.0036	-786	c.166 others(17): Show c.1662+857_1663-592del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
THADA_chr2_43225851_43601038	43429157	GAGTGCAG others(779): Show GAGTGCAGTGGCAAGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTC AAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGTGCGC ACCACCAGCCTGGCTAATATTTGTATTTTTAATAGAGACAGGGTTTCGCC ATGCTGGCCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCC TTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCAGCCA GAATGTGATTTTTAAGACAATGGTGAACTATAAGACTGGAAAGCCCTCGT AATGGCTTTGCTCTGTGTTTCCAAGAACACTGGCCATTTCTGCTCAGGTA GACAAGAACCATTTCTGAACACAAGTGATCATATTAGTCAGCTAATCGCT ATAGTTTCACAATGGTAAGTTGCAACAAGCCAGTAATAAAAAATGACAGG TATGCATAAAGCAAACTCAATATGTAAACACAGATTTTTTTAAAAATAGG AAGAAAATAATTCATAACAGAAGAAATCACCATGTGATTCCTAGTTTCTG TACCACCGAAAATGGAATTAAGTTTGATAAAATTTAACATAAAATAGCAT TTTTAAAATATAAAGACAGGATTTTACATAACTTTTCAGGTACAAATTTA CTACAGAGAACCAAGCAATATGATATAATTACAAAAAAGCACTTTAATAA AAAAGCCAATTTTATGCAAGGAAGCAGTCTGACCGTGCACAGTGGCTCAA GCCTGTAATCCCCACACTTTGGGAGGCCCAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	204	0.0049	-786	c.392 others(17): Show c.3926+270_3927-927del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	27/37			chr2	TogoVar
BCAR1_chr16_75223181_75256624	75231182	TGCCTCCT others(778): Show TGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCTGGGATTACAGGCCT GCGCCACCACCCCTGGCTAATTTTTGTATTTTTGGTAAAGATGGGGTTTC ACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCTCCC GCCTCTGTCTCCCAAAGTGATGGGATTACAAGCGTGAGCCACTGCACCCA GCCCTTTTTATTCTTTGACAACTCTTCATAGTTATATAATATCCCACTGC ATAAATGTCCATACTTTATTGAATCAATACTCTCCTATTAGACACTTTGT GGGTGGAGATTTCAGATTCTTCACCGATACAAAAATGGGGCAACAGATGT TCTCATCAGTAAGTCTTCATGGACTTGCATTTAACATGGACTTTATGTCC TTGGCCTTGGAATTCTACATCTTTAAAGTTCTTCACATATATTCTTGCCC TTTAATCCAGCTTCTAGCAAGTTATCTAAGTGATTCATCAGATACGTGCA AAGACTAGTATTCATCACAGCACTGTTCACAAAAGTAAAACTCTGGGAAC AGCCTAAGTGTCCAACAGCAGGGGACTGGTGAAGTCAGTGCTGGAGGCAC ACAGAGGACGGACAAAGTACACGACCACTTCTGAAAACACGGCGATCCCA GAGTTCTCTCTCTAGACAGAGATATAGACCTATATATTGTTGATATTTCA GGAGGTTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTAG AGTGCAGTGGTGCGATCTCGGCTCACCGCAACCTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0202 a0016c0024t0001g0202	1	390	0.0026	-785	c.210 others(19): Show c.2100+1879_2101-1160del	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	6/6			chr16	TogoVar
SVEP1_chr9_110360248_110584741	110583956	CTGATTGA others(778): Show CTGATTGATTGATGGGCATTTGGGCTGGTTCCACTTTTTTGCAATTGCAA ATTGTGCTGCTATAAACATACCTGTGCAAGTATCTCTTTCTTTTCCTCTG GGTAGATACCTAGTAGTGGGATTGCTGGATCAAATGGTAGTTCTACTTTT AGTTCTTTATGGAATCTCCACACTGTTTTCCATAGTAGTTGTACTAGTTT ACAGTCCCACTAGCAGCGTAGAAGTGTTCCCTGTTCACCGCATCCACCTC AACATCTATTATTTTTTGATTATGACTATTCTTACCGGAGTAAGGTGGTA TCTCATTGTGGTTTTGATTGCATTTCCCTGATCATTAGTGATGTTGAGCA TTTTTTTTATATGTTCATTGGCCATTTGCATATCTTCTTTTGAGAATTGT CTATTCATATCCTTAGCCCATTTTTTATGGGATTTTTTTTTCTTGTGAAT TTGTTTGAGGTCATTGTAGATATTAGTCCTATGTCAGATGTATAGATTGT GAAGATTTTCTCCTGCTCTGTGGGTTGTCTGTTTACCGTGCTGTTTATTT TGCCATGCAACAGATCTTTAGTTCAATTAAGTCCCAGCTATTTATTTGTA TTAATATTTATTTGTATTTGTATTTGTTGCATTTGCTTTTGGGTTCTTGG TCATGAAATTCTTGCCTAAACCAATGTGTAGAAGGGTTTTTCCAATGTTA TCTTCTAGAATTTTTATGGTTTTTGGTCTTAGATTTAAGTCCTTAATCCA TCTTGAGTTGATTTTTGCATAAGGTGAGAGATTAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0020 a0020	a0020c0148 a0020c0148	a0020c0148t0004 a0020c0148t0004	a0020c0148t0004g0354 a0020c0148t0004g0354	1	360	0.0028	-785	c.-51 others(11): Show c.-5198_-4414del	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding		4216		chr9	TogoVar
AHRR_chr5_316714_443285	391356	CAGGGCCA others(777): Show CAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGC CAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCC AGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAG AGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGA GCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAG CGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGC CAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0220 a0004c0003t0007g0220	1	262	0.0038	-784	c.351 others(19): Show c.351+14641_351+15424del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
BCAS1_chr20_53938541_54075594	54027111	GTGGGTGT others(777): Show GTGGGTGTTTGAAGGGAAAATGTTTAAACTCTGAAAGAAATGTTGGAAAT AAGCTCTTTGAATCAAAATGTATAGAAAACACAAGAATGCTGACAGTAAG AGCCTAAAACACATGATGACTATTATCTTTTCCCAATTTTAACTCTCCAG AGTGTTCAGCGGTGCCCAGCCTTCATAATGTAATTCTTCGTAGCACCCTG GATGCATTAAAACCATAGATTAACGTGATACTTATTTTCATTAAGGAAAA TAATTTACGTACAGTGCTCAGAGTAGAGCCTGGCACATTGAACATTTTCA ATAAATGACAGCAAGTGTAATTATTAGCACTTCGGAAGTGCAAAGTTGCA TTGTATTAAGACAAATATATTTGGAGCTCATCCAATTTTTTCCTGGCTCT GAAGTCTGCTAGTGGCACTTAACTTTATTCCCAAGTTTTGAAAAATATTG TTATTTAAAAAGTCTGTTAACCAAGGAAATGCATGCCCTAAACCTATAAT GTATCAAGTTTTACTTCCTTCTTCTTTTAAGGAGTTCTTTTCCTGCCTTG AATACAAACAGGCTCTCTCAAGGTTAAAAGCAAATGCTCTTTTTAGTGTC AAAAAGAGCTTGCCTTTCTTCGCTCAGGAAAAAAAGCAACTGATTCCAGG ATACCTTCTTTGAAAACCAACACAAAAAAACCCCCCAAAAAACAAAAAAA AAACCCAAAACCCCTAGTTTTTACAAAGGTTTATTACTCCTACTTGTTGG AAAAGAATTACTACATAAAAGAGTCTGCCCAGAGC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0023 a0003c0003t0005g0023	1	362	0.0028	-784	c.723 others(16): Show c.723+497_723+1280del	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
HDAC4_chr2_239043168_239406020	239068972	GGTGCAAG others(777): Show GGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACG GTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGG TGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGT GCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGTG CAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGTGC AAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGTGCA AGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACGGTGCAA GCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGAGTCACGGTGCAAG CCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGTGCAAGC CAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGTGCAAGCC AGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCA GCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCAAGCCAG CAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCAAGCCAGC AAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCCAGCA AGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAGCCAGCAA GCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0079 a0001c0001t0055g0079	1	240	0.0042	-784	c.275 others(18): Show c.2751-1149_2751-366del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(777): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG CGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCA CCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCT GCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01496.hp2 NA18963.hp1 others(1): Show HG00438.hp2 HG01496.hp2 NA18963.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0208 a0001c0003t0001g0033 a0001c0003t0001g0038 others(1): Show a0001c0001t0001g0208 a0001c0003t0001g0033 a0001c0003t0001g0038 a0001c0003t0001g0089	4	127	0.0315	-784	c.141 others(20): Show c.1416+9996_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
NCAM2_chr21_20993409_21548329	21479583	CAAAAAAA others(777): Show CAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGATGATAAAAACCAACAAT ACGTGTAGACAAAAGGTTGAAAAAATTAAAAGGTAATAAAAGCAGATATG AAGGCACCAAAGTAACCAAGACATGCTGTAATTCATTTCCTCTCTCTCTA TATATATATATTTTTCAATTTGAGAAACTCGTGTCCTGAGAGCTTTGTAG GCAAGACCTGGAAAGAAAATGGATAGAATTCTGGTTTATATTCCCAGATT TGTTCCTGTCACATAACTTGTCAAAATAACTGTTTCCTCATCTCTAAAGT GAGTTCCTTCTGGTTCTGCAATGTTAAGATCTATCATTTATTAATTTAAG AATTATTTATTGGAGTACTTCTTTGTGACAAACCCTTGAATGAGTACAAA GGATTTATCTGTGAAAAATACAGCACTGACCCATGTCCCCCAAAATCTCC ACAGTCTGGTAGAGAAGACAGATATTCAACATGAGTTAGAATAACTGCAA CTGGCCGGGCGCGGTGGCTCACGCCAGCAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACAC AGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTACT GGCGGGCGCCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	69	0.0145	-784	c.207 others(19): Show c.2077+2133_2077+2916del	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NOC4L_chr12_132139457_132157468	132149708	CACACCAC others(777): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	291	0.0034	-784	c.901 others(15): Show c.901+814_902-489del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(777): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0328 a0001c0002t0002g0328	1	272	0.0037	-784	c.843 others(16): Show c.843-1680_843-897del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLURP2_chr8_142759338_142774828	142759899	ATTTACAG others(777): Show ATTTACAGTGGGTAATTCAGTGGTTTGTCACGCACCATCCAATCCACCCG TTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAATCCACCCGT TTACAGTGGCTAATTCAGTGGTTTCTCACGCAGCATACAATCCACCCGTT TACAGTGGGTAACTCAGTGGTTTTTCACGTACCATACAATCCACCCGTTT ACAGTGGGTAACTCAGTGGTTTCTCACGCAGCATACAATCCACCCGTTTA CAGTGGGTAATTCAGTGGTTTGTCACGTACCATACAATCCACCCGTTTAC AGTGGGTAATTCAGTGGTTTTTCACGCACCATACAATCCACCCATTTACA GTGGGTAACTCAGTGGTTTGTCACGCACCATACAATCCACCCGTTTACAG TGGGTAACTCAGTGGTTTGTCACGCACCATACAATCCACCCGTTTACAGT GGGTAACTCAGTGGTTTTTCACGTACCATACAATCCACCCGTTTACAGTG GGTAACTCAGTGGTTTCTCACGCAGCATACAATCCACCCGTTTACAGTGG GTAATTCAGTGGTTTCTCACGCAGCATACAATCCACCCGTTTACAGTGGG TAATTCAGTGGTTTCTCACGCACCATCCAATCCACCCGTTTACAGTGGGT AATTCAGTGGTTTGTCACGCACCATCCAATCCACCCGTTTACAGTGGTTA ATTCAGTGGTTTGTCACGCACCATCCAATCCACCCGTTTACAGTGGGTAA TTCAGTGGTTTCTCACGCACCATACAATCCACCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(126): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0106 a0001c0001t0003g0032 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0004g0034 a0001c0001t0006g0043 a0001c0001t0007g0062 a0001c0001t0009g0056 a0002c0002t0001g0012 a0003c0003t0002g0054	129	444	0.2905	-784	c.39 others(11): Show c.3922_*4705del	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		4438		chr8	TogoVar
F11_chr4_186261189_186294681	186292800	CAAAAAAA others(776): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAATAGAATGCATCTTTCC CTTTGCTCGTGTGAGAGGATTTTCAACATCCCAGCCCGCAGCATCCCAGA GCTCAGGTGTAGGGAATTTCCCGACTGCACGGACGCTCTGCCGGCCCCAT GTGGTCAGGGCAATCCTCTCTTTGAATGTCCTTTCCACAAGATGTCTGTG AGGCCACCTGTCACCTGGGAGGGCTTCCCTTTGTCCAGGCAGAGGTGGTG GCCACAGCATCACGGCTTCCCAGTGCGCCCTGTGAGCCCCACCCCAACTC TCCCGCCTGCTTCCCGCCTGTTGTATGCACGCGTGTTCATTAACCACAGC AGGCCAAGCTTCTTTCAGGAGAACATTTCTTCCTTTTCCAAGGCAATCCC ACAAACTAAAAATAACTGTTTAGAGCAATTCTTCAATGAGGAATGTCCGT GTGTGTGTGTGTGTCTGTGTGTGTCCGTGTGTGTGTGTGTGTGTGTGTGT TTGAGAGAAAGAGAGAGAGAGAATGAAAATGAAAACAGGCCGGGCACGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCA CAAGGTCAGGAGATCGAGACCACCCTGGCTAACATGGTGAAACCCCATCT CTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGTC AGAGCCTGGGCGACAGAGCAAGACTCCGTCTCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00639.hp1 others(65): Show HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18955.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0002 a0001c0005 a0001c0008 others(4): Show a0001c0002 a0001c0005 a0001c0008 a0002c0007 a0003c0009 a0008c0016 a0009c0019	a0001c0002t0002 a0001c0002t0008 a0001c0005t0002 others(6): Show a0001c0002t0002 a0001c0002t0008 a0001c0005t0002 a0001c0005t0011 a0001c0008t0002 a0002c0007t0002 a0003c0009t0008 a0008c0016t0002 a0009c0019t0002	a0001c0002t0002g0006 a0001c0002t0002g0014 a0001c0002t0002g0030 others(36): Show a0001c0002t0002g0006 a0001c0002t0002g0014 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0063 a0001c0002t0002g0085 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0216 a0001c0002t0002g0227 a0001c0002t0008g0193 a0001c0005t0002g0009 a0001c0005t0002g0016 a0001c0005t0002g0044 a0001c0005t0002g0056 a0001c0005t0002g0107 a0001c0005t0002g0130 a0001c0005t0002g0142 a0001c0005t0002g0195 a0001c0005t0002g0222 a0001c0005t0002g0223 a0001c0005t0011g0057 a0001c0008t0002g0138 a0001c0008t0002g0164 a0002c0007t0002g0009 a0002c0007t0002g0201 a0003c0009t0008g0196 a0003c0009t0008g0197 a0008c0016t0002g0014 a0009c0019t0002g0009	68	302	0.2252	-783	c.41 others(11): Show c.4187_*4969del	F11	ENSG00000088926.15	transcript	ENST00000403665.7	protein_coding		3120		chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(776): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	292	0.0034	-783	c.13 others(11): Show c.1398_*2180del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(776): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	297	0.0034	-783	c.-37 others(11): Show c.-3714_-2932del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
PRSS33_chr16_2778953_2792560	2786674	CCCCTCCG others(776): Show CCCCTCCGTGGTCCTTCTGTCTGTCCTCAGCTCCTGGTGGGTTCTGGACT TATCCTGGTGGCCCAGGCTGTATACCCTTCGTTCTGCCCAGGGCCCAGGT ATGCAGCACCCACCACCCAGATATTTGGGCATCCTTGGTCTCGACAGAAG CCCTGGAGCCTAACCCCCCTCGGTCATCCTCACTCCCTCCCTCATCCCCC TCCCCCATCCTCACCCCCTCCCTCATCCTCACCCCCTCCCTCATCCTCAC TCCCTCCTCCATCCTCACCCCCCTCCTCCTCACTCCCCTCCCTTATCCTC ACCCCTTCCCTCATCCTCATCCCTCTCTCATCCTCACCCCCTCCCTCATC CTCACCTCCTCCTCTATCCTCACCCCGTCCTCCATCGTCACCCCTGCTCC TCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCTCATCCTCACCTCTCA TCCTCACCCCTCTCTCATCCTCACCCCTCCCTCATCCTCACCCCTCCTCT ATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCC TCATCCTCACCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCT CCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCT CCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCC TCCTCTATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCTTCACCA CTTCCCTCATCCTCACCCCCTCCCCCATCCTTCA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0033 a0003c0005t0001g0033	1	384	0.0026	-783	c.-58 others(13): Show c.-58+76_-57-71del	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
UNC5A_chr5_176805559_176885898	176871222	GCTCACCA others(776): Show GCTCACCAACACCACAGCTTCACATCTGCCCACACTCACCAACACCACAG CTTCCCATCTGCCCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCA CACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCA CAGCTTCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCC CACACTCGCCCCACACCACAGCTTCCCATCTGCCCACGCTCACCAACACC ACAGCTTCCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTG CCCACGCTCACCAACACCACAGCTTCACATCTGCCCACACTCACCAACAC CACAGCTTCCCATCTGCCCACACCTGCCCCAACACCACAGCTTCCCATCT GCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCCA CACCACAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCACATC TGCCCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCC AACACCACAGCTTCACATCTGCCCACACTCACCAACACCACAGCTTCCCA TCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGC CCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAACACCACAGCTT CCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACAC TCGCCCCAGCACCACAGCTTCCCATCTGTCCACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02300.hp2 others(1): Show HG01081.hp2 HG01106.hp1 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0087	4	247	0.0162	-783	c.886 others(16): Show c.886+709_886+1491del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF382_chr19_36600313_36639114	36612940	CGCCACCA others(776): Show CGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTCATCCGCCCAC CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGC CCTGTTCAAATGTTTTATCCATCTTTTATTTAGGTAGTATGTATTTTTCC TTGAGTAGTAGGAATTCTTTACATACTGTGGATAGAAATCTTTTGTTCAA TGTATGTATTACAAATATTTTCCCTAGTCTATGACTTGCATATTCATTTT AATGGTGTCTTTTGATGAACAGAAGTTTTTAACTTTGGTGAATTTCACTT AATCATTGTTTCTTTTATCATTAATTATGTGACCTCTCAAACAAATATTT GTCTTTTTCTAGGTATAGTGAGGATAATTCTCTTTTCTAGGTATGGTGAG GATAGTGCTCTGTAATTTCTTTGTATATTTTGCTTTTTTTTTTTTTTTTT TGAGACAGAGTTCCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGTGTGAT CTCAACTCACCGCAACCTCCGCTTCCCTGCAACCTCCACCTCCCAGGTTC AAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTGC ACCACCACGCCCCGCTAATTCTGTATTTTTAGTAGAGATGGGGTTTATCC TTGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCC TCAGCCTCCCAAAGTGCTGGGATTACAGGCATGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0200 a0001c0001t0054g0200	1	350	0.0029	-783	c.232 others(17): Show c.232+2204_232+2986del	ZNF382	ENSG00000161298.19	transcript	ENST00000292928.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	1400511	GTATTGAG others(775): Show GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	39	0.0256	-782	c.107 others(21): Show c.107-100833_107-100052del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1404290	TGAGTCGT others(775): Show TGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCCCCCTCCTTGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01361.hp1 others(7): Show HG00639.hp1 HG01071.hp1 HG01361.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03492.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0007t0008	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 others(7): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0022g0034 a0001c0003t0001g0025 a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031 a0002c0007t0008g0040	10	40	0.2500	-782	c.107 others(19): Show c.107-97049_107-96268del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
F11_chr4_186261189_186294681	186292800	CAAAAAAA others(775): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAATAGAATGCATCTTTCC CTTTGCTCGTGTGAGAGGATTTTCAACATCCCAGCCCGCAGCATCCCAGA GCTCAGGTGTAGGGAATTTCCCGACTGCACGGACGCTCTGCCGGCCCCAT GTGGTCAGGGCAATCCTCTCTTTGAATGTCCTTTCCACAAGATGTCTGTG AGGCCACCTGTCACCTGGGAGGGCTTCCCTTTGTCCAGGCAGAGGTGGTG GCCACAGCATCACGGCTTCCCAGTGCGCCCTGTGAGCCCCACCCCAACTC TCCCGCCTGCTTCCCGCCTGTTGTATGCACGCGTGTTCATTAACCACAGC AGGCCAAGCTTCTTTCAGGAGAACATTTCTTCCTTTTCCAAGGCAATCCC ACAAACTAAAAATAACTGTTTAGAGCAATTCTTCAATGAGGAATGTCCGT GTGTGTGTGTGTGTCTGTGTGTGTCCGTGTGTGTGTGTGTGTGTGTGTGT TTGAGAGAAAGAGAGAGAGAGAATGAAAATGAAAACAGGCCGGGCACGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCA CAAGGTCAGGAGATCGAGACCACCCTGGCTAACATGGTGAAACCCCATCT CTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGTC AGAGCCTGGGCGACAGAGCAAGACTCCGTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03130.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0015 a0001c0006t0004 a0001c0006t0006 a0001c0005t0015 a0001c0006t0004 a0001c0006t0006	a0001c0005t0015g0009 a0001c0006t0004g0034 a0001c0006t0004g0169 others(3): Show a0001c0005t0015g0009 a0001c0006t0004g0034 a0001c0006t0004g0169 a0001c0006t0006g0031 a0001c0006t0006g0190 a0001c0006t0006g0191	10	244	0.0410	-782	c.41 others(11): Show c.4187_*4968del	F11	ENSG00000088926.15	transcript	ENST00000403665.7	protein_coding		3120		chr4	TogoVar
FOXQ1_chr6_1307098_1319758	1318976	CGGGTGGA others(775): Show CGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGG AGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGA GTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTA CTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGA CTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATT AGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACAT GGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGG CGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACC TGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCA CTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCA AGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAA ATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	404	0.0025	-782	c.50 others(11): Show c.5061_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4219		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805539	AGGGACCT others(775): Show AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	312	0.0032	-782	c.13 others(11): Show c.1374_*2155del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1253		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805542	GACCTCCG others(775): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	291	0.0034	-782	c.13 others(11): Show c.1377_*2158del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1256		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805559	CTCCCCCC others(775): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	293	0.0034	-782	c.13 others(11): Show c.1394_*2175del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1273		chr2	TogoVar
MLPH_chr2_237482251_237560322	237544418	GGGGGACA others(775): Show GGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAG TGGGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGG GACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGG TGGTCAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTG GGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTG GTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGT GGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACT ATTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGA CCAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAGTGGAGGGCACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0031 a0031	a0031c0039 a0031c0039	a0031c0039t0008 a0031c0039t0008	a0031c0039t0008g0108 a0031c0039t0008g0108	1	279	0.0036	-782	c.153 others(19): Show c.1539+1774_1540-1392del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241805539	AGGGACCT others(775): Show AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	318	0.0031	-782	c.-37 others(11): Show c.-3738_-2957del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3653		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805542	GACCTCCG others(775): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0146 a0002c0003t0002g0146	1	298	0.0034	-782	c.-37 others(11): Show c.-3735_-2954del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3650		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805559	CTCCCCCC others(775): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01496.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG01496.hp1 HG03486.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0007 a0001c0002 a0002c0003 a0003c0007	a0001c0002t0001 a0002c0003t0002 a0003c0007t0002 a0001c0002t0001 a0002c0003t0002 a0003c0007t0002	a0001c0002t0001g0119 a0002c0003t0002g0035 a0003c0007t0002g0019 a0001c0002t0001g0119 a0002c0003t0002g0035 a0003c0007t0002g0019	4	294	0.0136	-782	c.-37 others(11): Show c.-3718_-2937del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3633		chr2	TogoVar
ADGRA1_chr10_133082924_133136675	133135476	GGGTCTCT others(774): Show GGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGG TGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTG GGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCGCTGGGTCCCTG TAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGT CCCTGTGGTGGGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTC TGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGT CTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGC TGGTCTCTGGGTCCCTGTGGTGGGTCTGGTCTCTGGGTCCCTGTGGGGGG GTTCTGGTCTCTGGGTCCCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGTG GGGGTTTCTGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCTGGGTCCC TGTGGTGGGGGGGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCTGGGT ACCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTC TGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTCTCTGTGGGGGGGTCTGG TCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCTGTAGGGGTTC TGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCTGTTGGGGGG GTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01081.hp2 HG01256.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0036 a0001c0006t0036	a0001c0006t0036g0124 a0001c0006t0036g0170 a0001c0006t0036g0124 a0001c0006t0036g0170	2	282	0.0071	-781	c.59 others(11): Show c.5966_*6746del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		3802		chr10	TogoVar
DLGAP2_chr8_732628_1713476	1402575	CCTCCTTG others(774): Show CCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGT ATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGA TCACTCCAGGTGGTGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACT TACTCGTCGTCCTGCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCA AGTCCTCATGCGTGGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC GGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	40	0.0250	-781	c.107 others(19): Show c.107-98777_107-97997del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1402589	AGAGTCGT others(774): Show AGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACT GAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCA TCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGGT GAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCTG CGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGTG GAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTG AGTGCTTACTGAGCGCCACTCCTTGTCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	40	0.0250	-781	c.107 others(19): Show c.107-98761_107-97981del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GALNT2_chr1_230062238_230287122	230272966	CTCGCTAT others(774): Show CTCGCTATGTTGCCTAGGCTGATCTTGAACTCCTGGCATTAAGCAGTTCT CCCGCCTTGGCCCCCAAAGTGCTGGGATTATAGATAGGCCTGAGCCACCA CACCGGGCTGCATCTTCACCTTTTAATGTTTTTCTAATGACGGACTATTT GTTCCAACATGATACAGATACTAGACAGTGAGGCTTCTTTAAACACTATT TGTTCCTTTCCTTACCTCTGTTTCCAAGAACCAAGAAAAAAACAGTGTCT TCATAGCACATAATAGTGCCTGAAGTTGCAGAATACATTTATTTGTGTGT CTTTCATGTTCCCCACTAGAAAGGGAGCCTGGCTCTGTGACAGCGCCGGT GTCATACAGGTGTGCAGCAGGTGGTCATGGGACAGACCGATAGAAAGACA GACAGACAGACGGAGGGGAGGGCCACTGCAGCGTGCTGGGGCTTAGAGAG GAAGGGGATGGAAGTGGATAGTGAGTCCCTGTGGGGTTTTAAACTGGAAA GGGCCTTGCTGCCCCTCGATATTAAGGGGTGTTCATCCCTTTGAGTGGGA CAAATGGAGAGTGATGGTCAGAAGCCTCACCTTCCAGTCCCTGCTGTGGC CCTGCCTGGAACAGGCTCCGGCCTCCTCTGCCACCTGGGACCATGTCTCA TTTAGTATCCAAAATGGTTGTCCTCTCACCCTGTCACAGCCTTTAACTTG TGTGTGTTTGTACATATATGTGTGTGTTTGTTTGTTAACATCATGGTGTG TTATTTAAACACTCTCTAGCTCAGTTTTCTCA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0084 a0002c0004t0002g0084	1	322	0.0031	-781	c.144 others(18): Show c.1441-1476_1441-696del	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MPHOSPH9_chr12_123149215_123238141	123174635	GTGCTGGG others(774): Show GTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCATGACTCCAAAATT TATCATACCATCCTAAAACCTTATTTTTGAGCTCCAAACTCATTTATAAT TGCCTATTTGATTTCCACTTAGAATCGATATGAATCTCAAACAAAAATAT TCAAGATGGAAATTCTGATCTCTTCCCTAAGTTCAACACATGAACTAGGT ACCTTTAGTTGTTTGAGAGAGAAACCAAGGAATTATTCCAACACCTCCCT TTCTTACCTTGCCATCCAATTCACAACCATATCCTATAGATCCTACCTCT AGAATCTCTCCCGAAGAGTCTCTATTGTCTATTTCTGTGACCACCACCTA GCTAACACCACCTCTCTCCTAGCACTGCACCAGACTAACTAGTCTCCTGC TTCCATTCTTTCCTTCTCCATCTTCTCATGGCAGGTACATTAATAAAAAT TAGATAACATCATTTTACCACATAAAAACCTTCAAAGGCTTCCCAATGGA CTTAGGGCAAGATCTAACTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCT CTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTG GGACTACAGGCGCCAGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTT AGTAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTTGTGATCCGCCCGCCTCGGCCTCCCAAAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	264	0.0038	-781	c.245 others(19): Show c.2456+1272_2456+2052del	MPHOSPH9	ENSG00000051825.15	transcript	ENST00000606320.6	protein_coding	16/23			chr12	TogoVar
NPSR1_chr7_34653218_34854978	34800842	AGGGAAGA others(774): Show AGGGAAGAATCAAATAGATGCAATAAAAAATAATAATGTGGATATCACTA CCAATCCCGCAGAAATACAAACTACCATCAGAGAATACTATAAACACCTC CATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACAC ATACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGAC CATTAACAGGCTCCAAAATTGAGGCAATAATTAATAGGCTACCAACCAAA AAAAGTCCAGGACCAGACCAATTCACAACTGAATTCTACCAAAGGTACAA AGAGGAGTTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAG AGGGAATCCTCCCTAACTCATTTTATAAGGCCAGCATCATCCTGATACCA AAGCCTGGCAGAGACAAAACAAAAAAAAGAGAATTTTAGACCAATATCCT TGATGAACATCGATGTGAAAATCCTCAATAAAGTACTGGCAAACTGAATC CTGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTCGGCTTCATCCC CGGGATGGAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCAGT ATATAAACAGAACCAAAGACAAAAACCACATGATTATCTCAATAGATGCA GAAAAGGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACACTCAA TAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATCTATG ACAAACCCACAGCCAATATCATATTGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02717.hp1 others(6): Show HG01891.hp1 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03471.hp1 NA20129.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0002 a0003c0005 a0015c0026 a0001c0002 a0003c0005 a0015c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0003c0005t0002 a0015c0026t0004	a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0002g0120 others(6): Show a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0002g0120 a0001c0002t0002g0175 a0001c0002t0003g0177 a0001c0002t0004g0006 a0001c0002t0004g0007 a0003c0005t0002g0126 a0015c0026t0004g0063	9	258	0.0349	-781	c.385 others(19): Show c.385-10927_385-10147del	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8			chr7	TogoVar
P2RX5_chr17_3668227_3701155	3686992	CAGAACAG others(774): Show CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGC TGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG ACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACAC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	352	0.0028	-781	c.981 others(16): Show c.981+239_981+1019del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
ATP10A_chr15_25673712_25868327	25757945	ACTCATTC others(773): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp2 HG01109.hp2 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0066 a0006c0007 a0006c0066	a0006c0007t0001 a0006c0066t0001 a0006c0007t0001 a0006c0066t0001	a0006c0007t0001g0037 a0006c0066t0001g0035 a0006c0007t0001g0037 a0006c0066t0001g0035	2	287	0.0070	-780	c.654 others(19): Show c.654+22294_655-21805del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C1orf159_chr1_1076823_1121089	1077299	GCCGGGAG others(773): Show GCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACG GGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGC TGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT TGGGGGAGGCTGAGGCTATGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	303	0.0033	-780	c.48 others(11): Show c.4814_*5593del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4523		chr1	TogoVar
ERC1_chr12_986223_1500931	1086419	GTTGTTGT others(773): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG03516.hp2 HG02258.hp2 HG03209.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0062 a0002c0002t0078 a0002c0007t0020 a0002c0002t0062 a0002c0002t0078 a0002c0007t0020	a0002c0002t0062g0142 a0002c0002t0078g0154 a0002c0007t0020g0071 a0002c0002t0062g0142 a0002c0002t0078g0154 a0002c0007t0020g0071	3	141	0.0213	-780	c.108 others(19): Show c.1086+2849_1086+3628del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXN3_chr14_89151177_89422233	89361833	CACCACTA others(773): Show CACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGC ACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCAC CACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACC ACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC TACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACC TCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCAC CACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTACCACCA CCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCC ACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCAC CACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCA CCACCACCACCACCATCTCCACCACCACCACCACCATCTCTACGACCACC ACCACCACCATCTCCACCACCACCTCCACCACCACCACCACCACCATCTC TACGACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	225	0.0044	-780	c.544 others(19): Show c.544-11805_544-11026del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
IFITM3_chr11_314676_325860	321661	TTCACTAT others(773): Show TTCACTATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGT GCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGC CGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCC ATAACCCTCACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCAC TATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCA GGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGAT TATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATTAC CTTCACTATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGG TGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAG CCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCC CATAACCCTCACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCA CTATGGTGCCCAGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCC AGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCCGGA TTATCCCATTACCTTCAGTGTGGTGCCCAGGCAGCTGGATTATCCCATAA CCCTCACTGTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATG GTGCCCAGGCAGCTGGATTATCCCATAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(18): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG03490.hp2 HG04228.hp1 HG04228.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0001g0001 a0001c0001t0002g0004	21	30	0.7000	-780	c.-16 others(10): Show c.-1628_-849del	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		802		chr11	TogoVar
KNG1_chr3_186712359_186749410	186734816	CGACAGAG others(773): Show CGACAGAGTCAGACTCCACCTGGAAACAAACAAAAAAACGAATGCCTCAT AGTCATAGTGGTGATTTTTAGGTGATGGAATAACACTACTTTAATCTTTC TAATTTTCTGTATTACTTTTGTAACTGAAAAAAAGTAAACAAACTAGATT AAAGTAAATCAAAACTGATACTTTGATCTCTCTGCTACTTGAGCACTTGT TTCTATCCCAGACACAACCACCCTCTCTCTCTGATTTCATTGCCATATGA CCACGTTAGGTTTACTTGAAAGGGACGCCAATCTATGCTATTCATGCTTT TTTCAGCTTTAACTTCTCACTTTATATTTCTGCTTTCTTGTGAAATTATT TTATTCTTTTTTCGTTGTTGTTTTTTAAGAGAGACGCGGGCCAGACATGG TAGCTCATGCCTGTGATCCCAGTACTTTGGGAGGCAGAGACAGGAGGATC ACTTGAGCCCAGGAGCGAGACCAGCTGGAGCAACATAGCAAGACCCTGTC TCTACAAAAAAAGAATTAAAGGCCAGGCGTGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGACCAACATGGTGAAAAACCATCTCTACTAAAAATACAA AAATCAGCTGGGTGTGGTGGTGGGTGCCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCACTTAAACTCGGGAGGCGGAGGTTGCAGTGAGC AAAGATCATGCCATTGCACTCCAGCCTGGGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	428	0.0023	-780	c.930 others(17): Show c.930+2147_930+2926del	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF144B_chr6_18382350_18473870	18401856	CCCCAGGG others(773): Show CCCCAGGGAGTATCCACATGTAATGATCTTCCTGCTAGATTTGATGTTAT GCCGGTATATACTGGTATATGTAATGTATATATTTTTTCTTTTCATGTTA GATGGATAATGTGCTTATGGTGTAACCAGGTTTGAGGGAGGCATATCTCA TGTGACTGGGAGAAGCCAATCATCATGCTTATGAACTACAAGAGGATCTA TACTGGTATATTTTCTTGGATTTAATAAAGCTTTAACAATATTCTGTCAT TGTCCTGTCTTCTGTAAGAGGCATCCCTGGCCATTTTGCTGTGAGCCTAG CTTTTTTTGTTGTTGTTTCCAAGATCACCACACTCCAATTCCAACTCTAC CCCAACTCAGCTGTGTAATTGGGCACATGATTAATCTCTTTGGGCCTCTG ATTTCTCCTGTGTAAAATGAAGGTGCTAGGATCCTTCACAGTGCTTCAAA TAGGGGGTGCAGTATACTCTGGGTATGCAGAAGGGACAGATGTGGAGTAT CTGACTTGACCATTGAATGTTAATCAGTTATTTCCTTATCTTTAGAGAGA CCTGGCCTTTAAATAGATGCCCCAAGTGTGTTCCACGGACCACCAGCTCT GGGAAACAGAGATATCCTTGAATGAAATGTTCCATGGTCAAATTAGCTTG GGAACTGCAATGTTCTTCTGTTCCTTTCTTAGAGGGATGTAAGGCACATT TGCATATTAGAGGCTCTGTGAAATCTTGTGGTTAAAGGGAAAGCAGGGGA ATCTTGTTTAGCTTCTTCTGATGAAGCATTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0003t0025 a0001c0005t0009 a0002c0004t0078 a0003c0006t0055	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(234): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0292 a0001c0001t0002g0014 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0334 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0356 a0001c0001t0004g0015 a0001c0001t0004g0295 a0001c0001t0004g0304 a0001c0001t0004g0312 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0332 a0001c0001t0004g0338 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0005g0013 a0001c0001t0005g0301 a0001c0001t0005g0305 a0001c0001t0005g0309 a0001c0001t0005g0317 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0005g0344 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0355 a0001c0001t0005g0358 a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0263 a0001c0001t0007g0271 a0001c0001t0007g0293 a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0036 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0041 a0001c0001t0008g0043 a0001c0001t0008g0076 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0098 a0001c0001t0009g0011 a0001c0001t0009g0229 a0001c0001t0009g0249 a0001c0001t0009g0250 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0009g0285 a0001c0001t0009g0288 a0001c0001t0010g0010 a0001c0001t0010g0227 a0001c0001t0010g0234 a0001c0001t0010g0235 a0001c0001t0010g0236 a0001c0001t0010g0237 a0001c0001t0010g0241 a0001c0001t0010g0254 a0001c0001t0010g0276 a0001c0001t0011g0002 a0001c0001t0011g0307 a0001c0001t0011g0314 a0001c0001t0011g0318 a0001c0001t0011g0319 a0001c0001t0011g0364 a0001c0001t0011g0368 a0001c0001t0013g0020 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0040 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0013g0089 a0001c0001t0013g0095 a0001c0001t0014g0302 a0001c0001t0014g0310 a0001c0001t0014g0316 a0001c0001t0014g0322 a0001c0001t0014g0349 a0001c0001t0014g0350 a0001c0001t0015g0329 a0001c0001t0015g0339 a0001c0001t0015g0340 a0001c0001t0015g0367 a0001c0001t0016g0052 a0001c0001t0016g0053 a0001c0001t0016g0055 a0001c0001t0016g0070 a0001c0001t0016g0077 a0001c0001t0016g0080 a0001c0001t0016g0091 a0001c0001t0017g0005 a0001c0001t0017g0033 a0001c0001t0017g0069 a0001c0001t0017g0092 a0001c0001t0017g0096 a0001c0001t0018g0253 a0001c0001t0018g0258 a0001c0001t0018g0266 a0001c0001t0018g0268 a0001c0001t0018g0280 a0001c0001t0023g0026 a0001c0001t0023g0029 a0001c0001t0023g0046 a0001c0001t0023g0065 a0001c0001t0023g0068 a0001c0001t0024g0012 a0001c0001t0024g0287 a0001c0001t0024g0290 a0001c0001t0024g0291 a0001c0001t0025g0273 a0001c0001t0025g0275 a0001c0001t0025g0277 a0001c0001t0026g0259 a0001c0001t0026g0260 a0001c0001t0026g0261 a0001c0001t0026g0279 a0001c0001t0027g0300 a0001c0001t0027g0357 a0001c0001t0033g0281 a0001c0001t0033g0283 a0001c0001t0033g0284 a0001c0001t0034g0230 a0001c0001t0034g0246 a0001c0001t0034g0269 a0001c0001t0035g0257 a0001c0001t0035g0264 a0001c0001t0035g0267 a0001c0001t0036g0296 a0001c0001t0036g0330 a0001c0001t0036g0331 a0001c0001t0037g0328 a0001c0001t0037g0333 a0001c0001t0041g0035 a0001c0001t0041g0037 a0001c0001t0041g0059 a0001c0001t0042g0075 a0001c0001t0042g0093 a0001c0001t0042g0094 a0001c0001t0044g0262 a0001c0001t0044g0265 a0001c0001t0045g0255 a0001c0001t0045g0256 a0001c0001t0054g0019 a0001c0001t0054g0090 a0001c0001t0055g0079 a0001c0001t0056g0054 a0001c0001t0056g0060 a0001c0001t0057g0228 a0001c0001t0058g0226 a0001c0001t0062g0289 a0001c0001t0063g0012 a0001c0001t0064g0369 a0001c0001t0065g0286 a0001c0001t0066g0282 a0001c0001t0067g0270 a0001c0001t0068g0278 a0001c0001t0069g0274 a0001c0001t0070g0225 a0001c0001t0071g0294 a0001c0001t0072g0272 a0001c0001t0073g0366 a0001c0001t0075g0321 a0001c0001t0076g0363 a0001c0001t0077g0299 a0001c0001t0079g0354 a0001c0001t0099g0088 a0001c0001t0100g0023 a0001c0001t0101g0024 a0001c0001t0102g0085 a0001c0001t0103g0097 a0001c0001t0104g0028 a0001c0001t0105g0067 a0001c0001t0106g0049 a0001c0001t0107g0025 a0001c0003t0025g0248 a0001c0005t0009g0247 a0002c0004t0078g0311 a0003c0006t0055g0071	247	384	0.6432	-780	c.165 others(17): Show c.165+2161_165+2940del	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560505	TGAGGCTC others(773): Show TGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACC CTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAG GTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00099.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0074 a0001c0001t0001g0098	2	164	0.0122	-780	c.637 others(19): Show c.637+11368_637+12147del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560806	GCCCTGAG others(773): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTC TCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04204.hp2 HG02738.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0011g0119 a0001c0002t0002g0065 a0001c0001t0011g0119 a0001c0002t0002g0065	2	170	0.0118	-780	c.637 others(19): Show c.637+11629_637+12408del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561565	TGGAGGAG others(773): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACA AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCC CTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG00597.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0079 a0001c0003t0004g0102 a0001c0001t0001g0079 a0001c0003t0004g0102	2	116	0.0172	-780	c.637 others(19): Show c.637+12381_637+13160del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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