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
ADARB2_chr10_1172313_1742525	1541576	TCACAGCC others(907): Show TCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTC CAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACC CCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACG TAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTC GGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCC TGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATC ACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGCC GTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAG ACTCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCA CTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCACACTCAG TTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGA CCCTGGATCACAGCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGG ATCACAGCCGCCCAGACCACACTCAGATATAGTTCAGACCCTGGATCACA GCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCC CAGACCGCACTCAGATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACC CCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTC AGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGC AGTTCAGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCA GACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	-914	c.101 others(21): Show c.101-163330_101-162417del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
LUC7L_chr16_183990_234449	186271	GGGGAACA others(907): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(4): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 NA18950.hp2 NA18967.hp1 NA18979.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040	7	339	0.0206	-914	c.20 others(11): Show c.2013_*2926del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2718		chr16	TogoVar
DLGAP2_chr8_732628_1713476	1561784	ACTGTGTG others(906): Show ACTGTGTGGTGTTGGGGTGTCTGCACCTCGTTACTGGGGGACTGTGTGGT GTTGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCC GCGCCTCGTTACTGGGGGACTGTGTGGAGTTGGGGTGTCCGCGCCTCGTT GCTGCGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTGCTGCGGGAC TGTGTGGTGTTGGGGTGTCGGCGCCTCGTTACTGGGGGACTGTGTGGTGT TGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCCG CGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTAC TGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTG TGTGGTGTTGGGGTGTCTGCACCTCGTTACTGGGGGACTGTGTGGTGTTG GGGTGTCTGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCGGCG CCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACT GGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTGCTGGGGGACTGT GTGGTGTTCGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGAGTTCG GGTGTCCGCGCCTCGTTGCTGCGGGACTGTGTGTTGTTGGGGTGTCGGCG CCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACT GGGGGACTGTGTGGTGTTGGGTGTCCGTGCCTCGTTGCTGGTGGACTGTG TGGTGTTGGGTGTCCGCGCCTCGTTGCTCGGGGACTGTGTGGTGTTGGGG TGTCCGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCC TCATTACTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	-913	c.123 others(19): Show c.1231-3878_1231-2966del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
GCM1_chr6_53121961_53153841	53125289	GTGCAGTG others(906): Show GTGCAGTGGCACAATCATGGCTCACTGCAGCCTCAACCTCTTGGGCTATA GCAATCCTCTTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACAC CACCACACCCAGCTAATTTTTAAAATATTTTTTAGAGTCTTGCTATGTTA CCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCGATCCTCACACCTCGGCC TCCCAAGGTGCTGGAATTAGAGGCATGAGCCATCATGCCTGGCTAAGATT ATAGTTTTTGAAAGTGAGAAAAGGTTTGGAATAACAGGATGCCTAGTCTG GTGGAGGTAAAATGTTTGCAATACCCAGAAAGCTTTGGACCAACAGGAGC TAAAGTTTCCTTCAGACAGTTACTGTTTATTTAGCTCTTTCATTTCATTT AGAGTGAGAATAAAGAAATGTATTACAGCAATGAAAATAACAAATTACAG CTACCCTCTTATGGATACAATGTTGAGCAGAAAAGGCAAGATCATAAAAA AATGTACACTAACTAGATGATAGCTAGACTGGTGTGTTCTTATGACAATT GAGCTCTATGCTATGAGCTGTGGATTCTTCTATATGTACATTACACTTCA ATTAATTCTTTAAAGTATACCATATGATTCTATTTGTTAGGCTCCCCAAA AAGACCACACGAAACTATAGTTTAGGGATACATACAAAGGTAGTAAAAAT GTAAAGAGCCAGTCTAGTGATCACCTTTGGGATACAGGGAGAGGGTTGTG GATGGGATTGAAATCCACAGTAAGGGGAACTTCTGCAGTGCCAGTAGATC CTATTTCTTGGTCCAGATAGTGTTTACACAAGTATTCACTTTACAATTCT GCTAAACTGAATATATAAGGTTTTTATTGATTGATTGATTGAGACTCTGT CATCCAGGCTGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	410	0.0024	-913	c.20 others(11): Show c.2004_*2916del		GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding					1671		chr6	TogoVar
PCGF3_chr4_700832_775089	745441	CGGGGGTC others(906): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0281 a0001c0001t0004g0281	1	361	0.0028	-913	c.462 others(16): Show c.462+758_462+1670del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746747	GCCCGGGG others(906): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0015	1	339	0.0029	-913	c.462 others(17): Show c.462+2067_462+2979del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC38A1_chr12_46178063_46274043	46237377	GGTCTTTT others(906): Show GGTCTTTTTCTTTATTAGCTTCATGCTATAACATGTTGTTTTTAATTGTG TTAGAGCGAGAAATGAAGCAAGAGTCATGAACTGAGTCAGAGAAGGAGGG GAAATAAAGAAAAACAAACAAACAAACAAAAACTCATCACACTGCATTTG CAATACAGGAACCAAAAGCCAACAGACCTCCCTCTGTACCAACGCTTGCC CTGGTTGGAGCCTATAGGGAAGTGAGCTCATCCAGGCAAGGTGCCTAAGT TGCGGGTGAGAATAGATGTTTCTCCCATCTACTGCAAGTGGTAATCATCT AAAAACTTGACATTTTTAGTAAGTGACACTTTTAAAAATCAAGTTCAGAT TCTAAACTGACTATTATAAATGACTCCCACCTTTAAGGCCCTTGAGGTTT GGATTGCTTTGATAATGGATTGCTTTGATAATTTTATAAAACCACAATGT CCTACTTGTGGTGAGAATTCCTTCCACTGTTCAGTGGAGGTCAGCAGGGA CTACTGAACTGTCCAGGAGTACAGCACATAAAATGGCCCTGGTAGCATTT AATAGAACTATTAAAGACTAGCTTTTTACCAATGCCCAAGCATTATAACC AGAGGGAGGAGGGTAGAGTAAAAATACACAAATTTTAGACAGACCTGTGT GTACCCTTGGATAAGTTATTTTCTTCCTCTGAACCTTAGTTTCCTTATTT GTAAACGGAAACTTTACATTTTTCTCACTTGCAGAAGAATACTTGTGCAT GGCAGTTATTAAGGATATGTGGTAGCTTATGTAAAATACCTGGCACTCAA GAAATGGGTATTATTATTAAGAATTACTCAAAAAAGATGAAAGAAGTAAG TACACTTGAGCCCCATAGTAAGAAACATCACCTAGCACAGTTGACCGTAC TTGGATAATAATGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02717.hp2 others(1): Show HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0109 a0001c0001t0122 a0001c0001t0038 a0001c0001t0109 a0001c0001t0122	a0001c0001t0038g0298 a0001c0001t0038g0299 a0001c0001t0109g0261 others(1): Show a0001c0001t0038g0298 a0001c0001t0038g0299 a0001c0001t0109g0261 a0001c0001t0122g0300	4	328	0.0122	-913	c.122 others(17): Show c.122+1389_122+2301del		SLC38A1	ENSG00000111371.16	transcript	ENST00000398637.10	protein_coding	3/16						chr12	TogoVar
TTC29_chr4_146701617_146950864	146809025	GTACCAAA others(906): Show GTACCAAAACAGAGATATAGATCAATGGAAAAGAACAGAGTCTTCAGAAA TAATGCCACACATCTACAACCAACTGATCTTTGACAAACCTGACAAAAAC AAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTG GCTAGCCATATGCAAAAAACTGAAACTGGGTCCCTTCCTTACACCTTATA CAAAAATTAACTCAAGATGGATTAAAAACTTAAACGTAAGACCTAAAACC ATAAAAACCCCAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCAT GGGCAAAGACTTCATGACTAAAGCACCAAAAGCAATGGCAACAAAAGCCA AAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGTAAAA TAAACTATCATCAGAGTGAACAGACAACCTACAGAATGGGAGAAAATTTT TGCAATCTAGCCAACTGACAAAGGGCTAAAATCCAGAATCGACAAAGGGC TAAAATCCAGAATCTACAAAGAACTTCAACAAATTTACAAGAAAAAAAAC AAACAACTCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTTAT AAGAAGACATTTATGCGGCCACCAAACATATGAAAAAAAAGCTCATCATT ACTGGCCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCA TGCCAGTTAGAATGGTGATCATTAAAAACTCAGGAAACAACAGATGCCGG AGAGAATGTGGAGAAATAGAAACGTTTTTATCCGTTGGTGGGCGTGTAAA TTAGTCCAACCATTGCAGAAGACAGGGTGGCAATTTCTCAAGAATCTAGA ACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATTCCCCA AGGATTATAAATCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01257.hp1 others(25): Show HG00280.hp2 HG01081.hp2 HG01257.hp1 HG01346.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02293.hp2 HG02300.hp2 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03490.hp1 HG03492.hp2 HG04228.hp1 NA18955.hp1 NA18968.hp1 NA18971.hp1 NA18989.hp2 NA18992.hp1 NA18999.hp1 NA19074.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0054 a0003c0004t0001g0073 a0003c0004t0001g0083 others(25): Show a0003c0004t0001g0054 a0003c0004t0001g0073 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0110 a0003c0004t0001g0111 a0003c0004t0001g0112	28	290	0.0966	-913	c.110 others(19): Show c.1102-6253_1102-5341del		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	10/12						chr4	TogoVar
DOC2B_chr17_137789_186650	166733	CATGGTCT others(905): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp2 HG01192.hp1 others(18): Show HG01106.hp2 HG01167.hp2 HG01192.hp1 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025 a0001c0002t0003 a0001c0002t0019 a0001c0002t0023 a0001c0002t0037 a0001c0002t0054 a0001c0005t0007 a0001c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0236 others(16): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0236 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0002g0130 a0001c0001t0007g0288 a0001c0001t0017g0042 a0001c0001t0025g0292 a0001c0002t0003g0291 a0001c0002t0019g0038 a0001c0002t0019g0039 a0001c0002t0023g0282 a0001c0002t0037g0097 a0001c0002t0054g0214 a0001c0005t0007g0102 a0001c0005t0007g0109 a0001c0007t0001g0286 a0001c0007t0001g0290	21	336	0.0625	-912	c.454 others(17): Show c.454-3441_454-2530del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167467	CTTCTTGA others(905): Show CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	296	0.0034	-912	c.453 others(17): Show c.453+4158_454-3264del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806536	TCCCCCCT others(905): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 NA19090.hp1 HG01515.hp2 NA19090.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0038 a0004c0004t0001g0028 a0003c0003t0001g0038 a0004c0004t0001g0028	2	275	0.0073	-912	c.23 others(11): Show c.2371_*3282del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2250		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806536	TCCCCCCT others(905): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCT CACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA19090.hp2 HG01515.hp2 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0011 a0001c0002 a0006c0011	a0001c0002t0001 a0006c0011t0007 a0001c0002t0001 a0006c0011t0007	a0001c0002t0001g0027 a0006c0011t0007g0011 a0001c0002t0001g0027 a0006c0011t0007g0011	2	277	0.0072	-912	c.-27 others(11): Show c.-2741_-1830del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2656		chr2	TogoVar
NSMF_chr9_137442570_137464334	137450670	TTTGATTT others(905): Show TTTGATTTCCCCCACCACACGCCTCTTCCCCTTGATCTTCCCCCGCCTCT TCCTCTTGATCTCCCCCCCTCGCCTCTTCCTCTTAATTCCCCCCAATGCC TCTTCCCCTTGATCTCCCCCACCACACGCTCTTCTCCTTGATCTCCCCCC AATGCCTCTTCCCCTTGACCTGCCCGCCACGCCTCTTCCTTTTGATCTCC CCCCCACACCTCTTCCCCTTGATCTCCCCCCCACGCCTCTTCCCCTTGAT CTCCCCCTCCACACGCCTCTTCCCCTTGATCTTCCCCTGCCCCTCGTCTC TTCCCCTTGATCTCCCCTGCCACGTCTCTTCCCCTTGATCTCCCCCACCA CGTCTCTTCCCCTTGATCTCCCCTCCACGTCTCTTCCCCTTGATCTCCCC CTCCACACGCCTCTTCCCCTTGATCTTCCCCTGCCACACGTCTCTTCCCC TTGATCTCCCGCGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCT CTTCCCCTTGGTCTTCCCCACCACACGCCTCTTCCCCTTGGTCTCCCCCG CCACGTCTCTTCCCCTTGGTCTTCCTTGGCCACACGCCTCTTCCCCTTGA TCTCCCCACCATGCCTCTTCCCCTTGATCTCCCCCTCCACACGCCTCTTC CCCTTGATCTTCCCCTGCCCCTCGTCTCTTCCCCTTGATCTCCCCCGCCA CGTCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCCCTTGATCTCCC GCGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCTCTTCCCCTTG GTCTTCCCCACCACACGCCTCTTCCCCTTGGTCTCCCCCGCCACGTCTCT TCCCCTTGGTCTTCCTTGGCCACACGCCTCTTCCCCTTGATCTCCCCACC ATGCCTCTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	411	0.0024	-912	c.123 others(17): Show c.1236+783_1237-416del		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
PCGF3_chr4_700832_775089	746659	CTCGCCGT others(905): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18982.hp1 HG02071.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0029 a0001c0001t0033g0027 a0001c0001t0003g0029 a0001c0001t0033g0027	2	338	0.0059	-912	c.462 others(17): Show c.462+2063_462+2974del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PHTF1_chr1_113691831_113764486	113705236	TCGAGACA others(905): Show TCGAGACAAGACTGGGCAACAAAGTAAGACCTCACCTCTACAAAAATACA AAAAATTAGTCGGGTGTGGTGGCGCAGGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGCTGGAAGGACTGCTTGATCCTCAGGAGGTCAAGGCTGGAGTG AGCCGTGATCACACCACTACACTCCAACCTGGGCAATAGAACAACACCCG GTCTCAAAAAATAAAATAAAATAAATCACACTTCTTCTGCATATCACCAA TATTTTAAACCCTCCATCCATAATTTTTATCAAATTTCAATAAATTTATT TCTCACTTGGCCATTTTTCACAAAAACATTATCACATGTAGATAATTATT TTATTCTATGGATAAAAAACAAAAAAGGGACACTGAGGTGCAGATGCTAA GCAGTCGGCTAGGCTCACTCACTGGCTAAGCCACTTATTCTACACATGAG GCCTGGCAAAATTTCAGATTACAACGTGTAATATGTAAATAGTCAATAAC ACAAACAATAAATCCACAAATATCAAAAGTCCACTTATCAATCCTTTATT GCCCACATCAACTTGAAGAGAGACCAAATCAAGAGAACAAAAGCAACTCA ATGGAATATCATATACAAAAACAGGTAAAAAATTTTCCTTATTTCTCCAC TGACCTGTTTATATGTTCTCTCTGCCACACACATCATGAAAAAAAACATC CAAGTAAGACACAATCTTTCAAAAAAATTAATTATCGACAAAACAATAAT AGGTGTAACAGGTGGTGCCCCACAAAAGAGAGTCAAGATCTCCTCAGCTG AAATGGACTTTAGTTGGTCAAGGCTCTTCTCACGGAAAAGTCGATGTAAG AATGGAAAAAATGCTAATCCAATAGTGACAACATTTCCCAGCATCTGATA ACCTACTCCTTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0018 a0004c0005t0012g0018	1	328	0.0030	-912	c.141 others(13): Show c.1413_1672-440del	p.Gln others(5): Show p.Gln472fs	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding	13/19		1413/2289	471/762			chr1	TogoVar
RPA3_chr7_7631518_7723607	7678490	AATATATA others(905): Show AATATATATTTATATATTTAATATAGATAAATATATTTATATACTTAATT TATAGATAAATATATATTTATATACTTAATTTATAGATAAATATATATTT ATATACTTAATTTATAGATAAATATATATTTATATACTTAATTTATAGAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATTTATATA TTTAGTTTATAAATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATA TATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAA CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAATATATATTTATATATTTAGTTTATAGATAATATATATTTATATAT TTAATTTATAGAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	306	0.0033	-912	c.-75 others(19): Show c.-758+6428_-758+7339del		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
TNN_chr1_175062833_175153075	175097558	TGGTGGGG others(905): Show TGGTGGGGAAGGAGCAGAGCAGCACTGTCCTGACAGGCCTGAGGCCAGGT GTGGAGTACACAGTGCATGTCTGGGCCCAGAAGGGGGACCGAGAGAGCAA GAAGGCTGACACCAACGCCCCGACAGGTAACAAAAGAGAGATGGTCAATT GGAATTGAGTTTTAGCTTGTGGATTTGAATAGGTATGGTATCAAAGGATG TGGCCTGAGCAGAAAGACTTTGCAATTAGAAGTCTTAAAGATGAAAGAAA GACTGAGCTCTCGTGGTGATGGCGGTGGGCTGCTCTTTCCTGACAGTGAT GAGCTGTTCATGAGACCACTTGGCCCACTGAAAGAGAGAAGTAAAGTCTT ATAGTAACAATGCTTTTAGCAGAAGATGGGTACAGGATCTGGTCATTGCA GTGCTTGTGATAATATTTTTAGAGTGCTCATCAGTGAAGTAGCCCTTGAT AAAATGTTATGTTAGGAACCCTAAATGTCATGGCAGCTGTTTAATTGGAG GTTGTGATGTGCCATATGCTGCTGAGAAGACATCGTTCCTCCAACATTTT AGGGAACTGAAAGCCAAGAAAGAATGCCTCATTTATAATGATTCCTCCTT TGAAGTTCAGAACCAAGGGCTACTTTCTCCTTAGACTCCCAGCGGAGACT CAGGATGAGAATGCCATTGCCTTGTTCTAAAAGAGCTCTGGAAGATGAAA ATGATGAAGATGGGGGTAAGGATATGTCTTCCATGGCTTCAGAGCTTAAA CCTTTCCAAACATTTTCCTTCCAGATATTGACAGCCCCAAAAACCTGGTG ACTGACCGGGTGACAGAGAATATGGCCACGGTCTCCTGGGACCCGGTGCA GGCCGCCATTGACAAGTACGTGGTGCGCTACACCTCTGCTGGTGGAGAGA CCAGGGAGGTTCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01261.hp1 HG01261.hp1	a0032 a0032	a0032c0066 a0032c0066	a0032c0066t0001 a0032c0066t0001	a0032c0066t0001g0250 a0032c0066t0001g0250	1	372	0.0027	-912	c.175 others(9): Show c.1755_2018del	p.Thr others(13): Show p.Thr585_Ser672del	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	9/19	1893/5042	1755/3900	585/1299		INFO_REALIGN_3_PRIME	chr1	TogoVar
VAV2_chr9_133756894_133997324	133827226	TGCCCACT others(905): Show TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACT GAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGA CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18522.hp2 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0016 a0001c0012 a0001c0016	a0001c0012t0012 a0001c0016t0002 a0001c0012t0012 a0001c0016t0002	a0001c0012t0012g0017 a0001c0016t0002g0020 a0001c0012t0012g0017 a0001c0016t0002g0020	2	168	0.0119	-912	c.449 others(17): Show c.449+6134_449+7045del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
CLEC2A_chr12_9908227_9937370	9923389	CACCAGTT others(904): Show CACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGTGGAGAAATAGGAATACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATTCCATTACTGGGTATATACCCG AAGGATTATAAATCATGCTGCTATAAAGACACATACACACGTATGTTTAT TGTGGCACTATTCACAATAGCAAAGACTTGGAACCAAACCAAGTGCCCAT CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCTTAAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGAT GAAGCTGGAAACCATCATTCTCAGCAAACTATGGCAAGGACAGAAAACCA AACACCACATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACAT GGACACAGGGACGGGAATATCACACATTGGGGTGATGTTGGGGTTGGGGG AGTGGGGAGGGATAGCCCCCCTGTCGTGGGGTTGGGAGAGTGGGGAGGGA TAGCATTAGGAGATATATCTAATGTAAATGACGAGTTAATGGGTGCAGCA CACCAACATGGCACATGTATACATATGTAACACAAACCTGCACATTGTGC ACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAAGAAAAAAAGAA AAAATAATAATCGCCATACTGACTGGCCTGAGATGGTATCTCATGTGGTT TTGATTTGCATTTCTCTACTGACCAGTGATGATGAGCTTTTCTTTATATG TTTACTGGCCACATAAATGTCTTCTTTTGTCTTTCTGCTCTTTTTAATCA ATGAATAAATGA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	434	0.0023	-911	c.139 others(17): Show c.139+1960_140-1158del		CLEC2A	ENSG00000188393.9	transcript	ENST00000455827.2	protein_coding	2/4						chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241806506	CCTCAGCC others(904): Show CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	311	0.0032	-911	c.23 others(11): Show c.2341_*3251del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2220		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806506	CCTCAGCC others(904): Show CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	316	0.0032	-911	c.-27 others(11): Show c.-2771_-1861del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2686		chr2	TogoVar
NRDC_chr1_51784210_51883727	51848272	AAGACCAT others(904): Show AAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAGAAAATTAGACAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTAC TCAGGAGGCTGGGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATAGCGCCACGGCACTCTAGCCTGAATGACAGAGCGAGA CTCCGTCTCAAAAAATAATAATAATAATAATAAGGTACAAATATCGAAAG CTAAAACAAATCACTGCAAAACATATTATTACCTAGAACAAGAGAATTAC CAAAAACAAAACCCAAAAACTATTATTAATAAATAGAATTCAGCAAAGTA GCCAAAATCAAAGAACTATAAACAAAAATCAGTAGCTTTCCTATACATCA AAGTAAGATTTTTTTAAAATCCCTTTGGCCAAAGCAATATAAACTATAAA ATGCATAAATATACCTAATAACAATAGCTCACATTTTTAATGTATTAACT TACATGTCTTAACCCAGTTAATCTTCACAATAATCCTGATGAGTTATTCC CATTTTATGGATGAGGAAACTGAAGCACAAAAAAGGTCTGTTATTTGCCC AACCTTATTGTGGCTTAGCAAAGACCGACTCTAAGTAGCATGACACTAGA ACACATTCTTTTCAATACTACTAAACAGCCAACATTAGGAAAACTTTACA GGTGAAATGAAAGACCTCACTAAACAGTCATACTATATTACTGGGTGGGA ACATCCAATATTATAAAGATACCAATTCTTCCCCCAAATTAATCTATAAA TTCAAGGCAATTCCCATAAAAAACCCCAACAAGGGCCGGATGCGGTGGCT CACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGCGGATCACAAG GTCTGGAGATCC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	242	0.0041	-911	c.342 others(17): Show c.342-8669_342-7759del		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(904): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20805.hp2 HG00099.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0055 a0002c0002t0003g0057	2	311	0.0064	-911	c.462 others(14): Show c.462+36_462+946del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PXDN_chr2_1626887_1749515	1702989	GGGGGGGA others(904): Show GGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGGGGGG CAGCTCCAGGTGAAGGGAGGGCAGCTCCAGGTGAAGGGGGGCAACTCCAG GTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGG GGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGCGGGGGACAA CTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGGGCAACTCCTGG TGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGGCAACTCCAGGTGAAGG TAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCA ACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGTGGGGGACAGCTCCA GGTGAAGGAGGGACAACTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGC GGGGGACAACTCCCGGTGAAGGAGAGACAACTCCAGGTGAAGGGGGGGCA ACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGG TGAAGGGGGGGCAGCTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAAGG GGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGAGGGCAA CTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGT GAAGCGGGGGACAGCTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGG GGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACT CCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAA GGGGGGACAGCTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGCA ACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0292 a0001c0001t0002g0293 a0001c0001t0001g0292 a0001c0001t0002g0293	2	317	0.0063	-911	c.201 others(18): Show c.201-10766_201-9856del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
SNTG2_chr2_945849_1372613	1342275	TGCTCTGT others(904): Show TGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCG CACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA GCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAG GAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0070 a0017c0036t0001g0070	1	150	0.0067	-911	c.148 others(21): Show c.1489-25052_1489-24142del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMT_chrX_1610059_1648081	1641344	ACACAGCC others(903): Show ACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGAGG TCCACCTATCCTGATGGTCCATGAGGATGTGGACACAGCCGCTCTGTGTG TGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGG TTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTTGGGGACAGTGTCC CAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC CACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTGAG ATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGGTGGTC CATGAGTACATGGACACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCA GCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCATGAGGACTTGGGCAT GGCCTCTATGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCA CCCATCCTGATGGTCCATGAGGATGTGGGCACAACCTCTTTGTGTGTGAT GGGGACAGTGTCCCAGTGTCTGTGAGGTCCACCCATCCGATGGTTCATGA GGACGTGGGCACAGCCTCTGTGTGTAATGGGGATAGCATCCCAGTGTCCT GTGAGGTCCATCCATCCTGATGGCCCATGAGGATGTGGGCACAGCCTCTG TGTGTGTGTGTGTGATGGGGACGGTGTCCCAGTTCTCCTGTGAGGTCCAC CCATCCTGATGGTCCATGAGGACATGGGCACAGCCTCTCTGTGTGTGATA AGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCAT GAGGACTTGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0010 a0002c0008t0001g0010	1	160	0.0063	-910	c.911 others(16): Show c.911-1437_911-528del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
DPH7_chr9_137549444_137583925	137565338	TGTCTGTG others(903): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	337	0.0030	-910	c.641 others(16): Show c.641-1094_641-185del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77761131	CGCCCGGC others(903): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCTCCC GCCCGGCCAGTGAGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCTTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCTGGCCAGTCGCC CAGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCTC GCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT CAGCCCCCCACCCGGCCAGCCGACCCGTCTGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGCGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTCCTGGGAAGTGA GGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	280	0.0036	-910	c.735 others(19): Show c.735+32422_736-32465del		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6						chr9	TogoVar
PCGF3_chr4_700832_775089	745613	GGGGGTCG others(903): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0335 a0001c0001t0024g0335	1	353	0.0028	-910	c.462 others(16): Show c.462+950_462+1859del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745638	TCCGTGGA others(903): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	300	0.0033	-910	c.462 others(17): Show c.462+1007_462+1916del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746009	CCCGGGGG others(903): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0128 a0001c0003t0029g0128	1	352	0.0028	-910	c.462 others(17): Show c.462+1324_462+2233del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM212_chr3_171838349_171864318	171857828	TCAAAACC others(903): Show TCAAAACCACAATGAAATATCACTTCACACCTGTTAAAATGACTATTATC AACCGGGTAAGAGATAACAAGTGTTGGTGAGGATGTGGAGAAAAGGGAAT CCTTGTGCACCATTGGTGGGAATATAAATTGGCATAGCCATTATTGAAAA CAGCATGGAGGTACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCAT CAAGCTACCAATGACCAATGACTTTCTTCACAGAATTGGAAAAAACTAAA GTTCATATGGGACCAAAAAAGAGCCCGCATACCCAAGACAATCCTAAGCA AAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATTCTAC AAGGCTACAGTTACCAAAACAGCATGGTACTGGTACCAAAACAGATATAT AGACCAATGGAACAGAACAGAGGCCTCAGAAATAACACCACACATATACA ACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGAT TCCCTTTTTAATAAATGGTGCTGGGAAAACTGGTTAGCCATATGTAGAAA GCTGAAACTGGATCCCTTCCTTACACCTTATATAAAAATTAACTCAAGAT GGATTAAAGACTTAAATGTAAGACCTAAAACCATAAAAACCCTAGAAGAA AACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCATGAC TAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATCGTATC TAATTAAACTAAAGGGCTTCTGCATGGCAAAAGAAACTATCATCAGAGTG AACAGGCAACCTACAGAACGGGAGAAAATTTTTTCAATCTACCCATCTGA CAAACAGCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACAAGA AAAAAACAAAC	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	434	0.0023	-910	c.4- others(11): Show c.4-232_*681del		TMEM212	ENSG00000186329.9	transcript	ENST00000334567.9	protein_coding	5/5				1125		chr3	TogoVar
VPS53_chr17_503668_719839	505850	TGGTTGAG others(903): Show TGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCAAGA TCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCAC CGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGAC TTTGTAGAAGAGCATTGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTT GAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGG GTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTG ACCTTCGAGAGCAGGGTCAGGACGGTGGTTGAGATGGAAGCTGACTTTCT AGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGAGAT GGAAGCTGACTTTCTAGAAGAGCACCGGTGACCTTTGAGAGCGGGGTCAG GACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTT CGAGAGCAGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTCTAGAAG AGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAG CTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAG TGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCAAGA TCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCAC CGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGAC TTTGTAGAAGAGCATTGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTT GAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGG GTCAGGACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG03516.hp2 HG02145.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0053 a0001c0002t0075 a0001c0014t0128 a0001c0002t0053 a0001c0002t0075 a0001c0014t0128	a0001c0002t0053g0048 a0001c0002t0075g0041 a0001c0014t0128g0166 a0001c0002t0053g0048 a0001c0002t0075g0041 a0001c0014t0128g0166	3	230	0.0130	-910	c.12 others(13): Show c.12368_*13277del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding					2817		chr17	TogoVar
ASMT_chrX_1610059_1648081	1639571	TCCTGTGA others(902): Show TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	221	0.0045	-909	c.910 others(17): Show c.910+3013_911-2322del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLG1_chr16_74442440_74612114	74515506	ACAACTAC others(902): Show ACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTAAA TAACGAAATGAAGGCAGGGATAGCATTAGGAGATATACCTAATGTTAAAT GACAAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTA ACTAACCTACACGTTGTGTACATGTACCCTAAAACTTAAAGTATAATTTT AAAAAATGTAAAGGGGCTAAATGCTCCAATTAAAAGACACAGATTGGCAA ACTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCCT CTCACGTGCAGAGACACACATAGTCTCAAAATAAAGGGATGGAGGAAGAT CTACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCT CTGATAAAACAGACTCTAAACCTAAACCAACAAAGATCAAAAGAGACAAA GAAAGCCATTACATAACGGTAAAGGGATCAATTCAACAAGAAGAGCTAAC TATCCTAAACATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGC AAGTTCTTAGAGACCTACAAAGAGACTTAGACTCTCACACAATAATAATG GGAGACTTTAACACCACACTGTCAACATTAGACAGATCAACGAGACAGAA AGTTAAGAAGGATATCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACC TAATAGACATCTACAGAACTCTCCACCCCAGATCAACAGAATATACATTC TTTTCAGCACCACACCACACCTATTCCAAAACTGACCACATAGTTGGAAG TAAAGCACTCCTCAGCAAATGTAAAAGAACAGAAATTGTAACAAACTGTC TCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAAACTCACT CAAACTTGCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02258.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0042 a0001c0003t0047 others(1): Show a0001c0003t0011 a0001c0003t0042 a0001c0003t0047 a0001c0003t0049	a0001c0003t0011g0284 a0001c0003t0011g0285 a0001c0003t0011g0286 others(3): Show a0001c0003t0011g0284 a0001c0003t0011g0285 a0001c0003t0011g0286 a0001c0003t0042g0283 a0001c0003t0047g0079 a0001c0003t0049g0323	6	340	0.0176	-909	c.472 others(17): Show c.472-7490_472-6582del		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	2/25						chr16	TogoVar
MYT1_chr20_64159452_64247253	64175424	TCTCCTGT others(902): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	194	0.0052	-909	c.-99 others(19): Show c.-99+10692_-99+11600del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(902): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 NA18947.hp1 HG02027.hp1 HG02523.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0053 a0002c0002t0002g0097 a0001c0001t0001g0025 a0001c0001t0001g0053 a0002c0002t0002g0097	3	221	0.0136	-909	c.981 others(17): Show c.981+1444_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SNTG2_chr2_945849_1372613	1345309	CTTTCCCC others(902): Show CTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTGTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT GGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTC CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0003	1	83	0.0120	-909	c.148 others(21): Show c.1489-22001_1489-21093del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMT_chrX_1610059_1648081	1640766	GCACAGCC others(901): Show GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGAT AGGGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCAT GAGGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGC CTCTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACC CATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGA GTACATGGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	218	0.0046	-908	c.911 others(17): Show c.911-2026_911-1119del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGF_chr4_109907883_110018766	109924961	CCATCAGG others(901): Show CCATCAGGACAAGCAAGATATTTGTAAATGAGTATCCAGGATCTGAAAAT GATTTTTTATAATTTTTACAGTTGTGTTCAAAGTTATGATAGTTAAGAAG ACTCTATTTACTAAGCTTAATGAAAAAAGTCAGAAGCCTCTCTTGAGGTT TCTTACATTACGGCAAAAGAGGAAAAGCCTGATATTATTGGTGAAACACT TGTTCTTCCTGCTTCCTGTTGTGGTAAAATATTGCTAAAATAATACATGA AAAACCACATGACAACAAATTAAAATGTGTTCCTTTGTAAACAAATACTG CTGAAAACTGTACAGAAAGAATCAATGAAAATGTGATGAAGTAAGTACTA AGCAATTATACTGTTGAATGGAAGTAAAGGTGTTTCTAATATATCACAGC GTATGGTTGTTTTCTAGAAAGTAATAGCCAAAATTTACTGGGAACTCACT ATGTGTCAGACAAGATTCTAAGCACTTTACATGAATTACTTTACTTATTC TTTTTAACAATCTCTGAGGTAAGTATTACTATTATTCCCATTTTATTTTT GCAGATGAAGAAACCAAGACACGGAGAGGTTAAGTCATGTGCTGAAGGCC ACACTGTCAATAGTATTGGAGCCAATAAAGAGTCAACATGAGTACTCCGT CTCCAATGCCAGTAATCTTAGCCACTATCATAATTACCTCAACAATGAAA TGCTCAGAGAACTGTAATTCTTTTCTATGAGAGAGTAAGGGAAAAATGCA ACAGAAAAGAAATTTTCTCAGTGAAAGTTCTCAGAAGTCAGAAATGACTT TTTTATATATCAGAAAATGTTCTATGAAAAAAATGGTATAAGTGTATTCA GCAGTGGTACACCCACTGCATTTACTAGGACATCAACCAAAAAGCATTCT TGGTGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0353 a0001c0001t0004g0353	1	386	0.0026	-908	c.127 others(19): Show c.127+11502_127+12409del		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
LRRC2_chr3_46510385_46571302	46564336	TTACAGAG others(901): Show TTACAGAGCCAGAGGGCATGACTGGAAAAACATGTCCCCTGGCACCAGGG CACTAGTCTCCACTCAGAAGTCATATGCCAGGGGGAGGGGGGGTTTTCCG GTCACCTAGTCCTCTCCCTTCTTGTCAAATTACACTGGGTTGCTAGGTAG GAGGTGTGGAGTGGGTGCAGGGTTAACCTCTCAGAGCATCCTAAGAAGGA TCTGGGGGAGTTTGGGAGGAGACTCAACAAAGTCTGGGAGGAGACTCACC TCATCATGCAGGTGCCAAGCCATTCTTGGCACTCCCACTGGGAGGCTGGG AGGGGGACAGGAGCAAGGGATGGAGCAGGAGAGGAGGACGGAGCTGATGC CAGAGGTCACCTTAACCAGCCATGCAGAGAGAGGCTCTCTCCTCCACACC TGCCCCTCAGAACTCCCAGGACCCCTCCACCCCAGGCTGCCCAGCTCCAA GCCCTCCACAGCACCCTTCCAGGCGTGTCATCAATGTAAGGAAAACCTCT ATCATCAGCCTTGCTGTATCCAAGAGAACCACTGTAACCCATGGGAATTT CTGGGGGCACCAAGATACAATGGGCAATAATATGACAACCAAGGAGCTTT GGTGACTCACAAATTCCATTCTATCCTCACATAAGGCCACTGCCTGGACA CCAGCGTTGGAATGAACGCAGTGAGTTTTCTGATAGAAACGGGGGTAAAT AGGAGCTAAATAGTCAAGTAAGGTCAGTATAGTCAGCCAAATTCTGAATT AAATGACATTTATGCCACATGATCAGAGTTTCCCTGGGGACTTCTGATTA ATTTTATTGTAATTTGTTTAGCTAGAAAATCCAGCCAGGGGAGGCAGAGG GTCCAGACGGGATTAAGAGGGCAATTCCAAGGCCAAGCTGCCTGGGCGGG AGCCCTGCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	362	0.0028	-908	c.-20 others(16): Show c.-20+933_-20+1840del		LRRC2	ENSG00000163827.14	transcript	ENST00000395905.8	protein_coding	1/8						chr3	TogoVar
PSPC1_chr13_19697500_19787945	19768376	GGTGGCTC others(901): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGA TCACAAGGTCAGGATATCGAGACCATCCTGGCTAACATGTGAAACCCTGT CTCTACTAAAAATACAAAAAAAATTAGCCGGACATGGTGGCTGGCGCCTG TAGTCTCAGCTACTCAGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGG CAACAGAGCAAGACTCTGTCTCAAATAAAAGAAAAGAAAAAAAAATGAAT AAGGGGGACATCTAAAAAAATGGACAAAAAATTTTAGATATTTCAGGAAA GATATATAATTGGCCAAAAAGCACATGAAAAGATGCTCATCATTAGTCAT CAGGAAAATAAAATTTAAATCACAATGAGATTGCGCTAAACTAACTAGAA TATCTAAGTCTAAAAACACCAAGTGGCAACTGGGCACAGTGGCTCACACC TGTAATCCCAGCGCTTAGGGAAACCGAAGCAGGTGGATCACTTGAGGCCA GGAGTTCCTGACCAGCCTAGCCAACGTGGCGAAACCCCATCTCTACTGCA AAAAAAAAAAAAAAATTAGCCAGGCATAGTGGTGCATGCCTGTAGTCCCA GCTACTCAGGAGGCTGAGGCACAATAATCACTTGAACTCGGGAGGCAGAG GTTGTAGCAGCCGACATGGAACCACTGCACTCCAGCCTGGGTGACACATT AAGACTCTGCCTCAAAAAGCAAATTAACAAAAAATTAATAATAGGCTGGG CGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAACTGAGG TCTGGAGTTAGAGACCACCCTCACCAACACGTAGAAACCCCGTCTAACGG CCGGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03453.hp2 others(4): Show HG01167.hp1 HG01169.hp2 HG03453.hp2 HG03471.hp1 HG03710.hp1 HG03834.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0013g0118	7	256	0.0273	-908	c.674 others(17): Show c.674+2958_674+3865del		PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	2/8						chr13	TogoVar
SNTG2_chr2_945849_1372613	1344972	TCCCCCTG others(901): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT GGCACTTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0126 a0002c0033t0001g0126	1	168	0.0060	-908	c.148 others(21): Show c.1489-22366_1489-21459del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TNKS_chr8_9550912_9787346	9721317	TATAAAAT others(901): Show TATAAAATTTTGCTGAATGTTTCATTGTCTGCCTGGTATAGTGTTAGATA TTTTAAATATAAATTGATAAGAAAATAGATACTGGCTTCCTAAGTCCCAA AACTAGAGGAAGTAATGCAGTCTACCTACTGACAAAATGAACTAGAATCA AAAGTTTAGTATAATTAACCTCTTTCCTAACCTTTTAATTTTGTCTGTGG ATTATATCTGCTATGGAATGAAATGACAAACCAGAAGAGTAAAATGTAGA AGGCTATAGACTAGGAGTCAGAAGTCCTGGTTACTTTTTTCTACCTACAG TCTGGTAGTTCTTAACTCTATCAGGTACAGTGCCCGCTTTTTATAAAGAA TGTCTTATGACATATCCTTATGACATTTCAGAAGTGAAATTCATAGATAA TATGACCTAACTGTATAGGTACCTTTCCAAAAATCTATATAAAACGCCCT AACTAGATCGGGCATGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCCAGACCACCTTGGCCAA CATGGTGAAACCCCCATCTCTACTAAATGTTAAAAAATTAGCCGGGTGTG GTGGTGCGTGCCTGTAATTCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT CACTGGAACCTAGGAGACGGAGGTTGCAGTGAGCCAAGATCGCGCCACTG CACTCCATCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAACAAAAAAA AAAGAAAAGAAAAGAAAAAAATGCCCTAACTATAATATAAAGGGAAAATA GCAGTAAGTTACAATAAAATAATTTATAGTTCTTATGTAAATAGATTGGA CACAACTATATTAGAAGACAAAACATGACCCCACAGATTTCTAAAGGGAC CCCAAGAAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0076 a0001c0007t0043g0076	1	270	0.0037	-908	c.192 others(18): Show c.1921+773_1921+1680del		TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	12/26						chr8	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(900): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02273.hp2 others(3): Show HG01934.hp1 HG01978.hp2 HG02273.hp2 HG03195.hp2 HG03831.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0157 a0001c0003t0002g0149 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0157 a0001c0003t0002g0149 a0001c0003t0002g0176 a0002c0002t0001g0026 a0002c0002t0002g0178	6	142	0.0423	-907	c.910 others(17): Show c.910+2971_911-2366del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CACNG7_chr19_53904278_53948950	53920204	CATTGGTG others(900): Show CATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTG GTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGG TCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTTCCC CAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGGTGGACTT GCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTCATTGGTGGA GTCGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCAT TGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTG GTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGC TGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCTCCA GGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTT GCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGG TGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCA TTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGT CATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCT GGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCA GGCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0341 a0001c0001t0011g0341	1	364	0.0027	-907	c.424 others(17): Show c.424+4720_424+5626del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920310	CATTGGTG others(900): Show CATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTTCCCCAGGTC TGGTCATTGGTGGAGTTGCCTCAGGTCTGGTCATTGGTGGACTTGCCCCA GGTCTGGTCATTGGTGGACTTGCCCCAGGCCGGTCATTGGTGGAGTCGTC CCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGG AGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTG GTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCA TTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCTCCAGGTCTG GTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCA GGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCC CCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGT TGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTG GACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGG TGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCAT TGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTG GTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGC TGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCA GGCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show HG01070.hp2 HG01071.hp1 HG01884.hp1 HG02109.hp2 HG02647.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0206 a0001c0001t0001g0267 a0001c0001t0002g0038 others(8): Show a0001c0001t0001g0206 a0001c0001t0001g0267 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0006g0343 a0001c0001t0013g0013 a0001c0001t0014g0207	11	364	0.0302	-907	c.424 others(17): Show c.424+4845_424+5751del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1085964	GTTGTTGT others(900): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0009 a0001c0013t0045 a0001c0001t0009 a0001c0013t0045	a0001c0001t0009g0072 a0001c0013t0045g0073 a0001c0001t0009g0072 a0001c0013t0045g0073	2	120	0.0167	-907	c.108 others(19): Show c.1086+2394_1086+3300del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM107B_chr10_14513557_14779897	14605888	GCTATCTC others(900): Show GCTATCTCCCTCCCCCTCTGCTGGCACCGCCACTGTTGCCTTTGGGCTCA GTCACAATATGGTGGCAGGGGTTTCCTAACTGGCCCCAGCCTCTGGTCTA ACACATGCTTTTCCTCTCAACTTTCTGGGGTGCAAGTGAACTTTCCAGGT GCAAGATGCTCAGTTTCCTCCTCTGCTTGAAACACTTTAGTGGATGCCTG CTTCCTGCTACATGATCAAGTCGAAGCTCCCCAGCAAACATCCAAGGCTC CACTCAGCCAGAGTGCCGTATTTGCTAAGTGGCCCTGCTCTGTGATGAAG ACTGGATGAAATAATGAATATATGGCCTTGTCATGCTCTTCCACGGGCTT CCCCTCTGCCTAGCAGACCTTCACCAATCCCCAAGAGCTCCTCTCCTCTC TGAGAATCAGTCTTCTCTGGAAACCCTTTCCTGACCTGCTCACACTAAAT GGATCTTTTCTGCCCCTCCCATACCCGACATGGTATTGGCGTTATTGCAC TGTATCGTAAATATGTGCCTCTGTGAGCCCAGAGTTGATGCTTGACATAT ATACATATCTTTATACCCTCTTGCCTAATGTAATATCTGGCATATGGGAA GTGTTATGGACTAAACTGTGTACCACATACCCCTATAATTCATATGTTGA AGCCCTAACCTCCAATGTGACTGTATTTGGAGACAGGACCTATAGGGAGG TAATTAAGGTTAAACAAGGTCATAAGGGTGGGACCCTAAGCTCATAGGTC TGGTGGCCTTATATAAGGAGGCAGAGACACCAGATCCCTCCTTCCTTCTC TCTTCCTCTCTCCCTCCCTCCTTCCCCTCTGTCCCTTTCCCCACTCTCTC TTTCTCTGCCCAAACACAGAGAAGAGGCCACATGAAGACACAATGAAAAG GCCGCCAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0111 a0001c0001t0030g0111	1	270	0.0037	-907	c.469 others(19): Show c.469+60839_469+61745del		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2121990	CGGTGGTT others(900): Show CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATG GTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCGT GGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCG TGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGG TGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGG GTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGT CGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	210	0.0048	-907	c.335 others(19): Show c.335-13268_335-12362del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar

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