Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
TRIP13_chr5_887884_923120	898005	GCAGTCAG others(1577): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCT GGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTG GATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTG TGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGG CTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGG CAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTG TGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCT TCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCA GGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATT TGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTG GGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTC ATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGG CCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTG GATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	402	0.0025	-1584	c.388 others(16): Show c.388+1277_389-840del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH18_chr5_19466296_19993200	19533930	TAAATATC others(1576): Show TAAATATCTAGCAATGCTGTGTAAAATTATTTGAGTGATTTGAAGTTTCT TTTGAATAAAGAAACTTGTTCTAATTGTCTTACAATATGATACTAACACT GGGATATTGCAATTAATAAATCATCAAATGTATTGGCACATTAAGTAAAT GTGGTGGATATTGTGATTGTCTCATCAAATTGCTCCTTATTGTGTAGAAC CTAAAAGGTATGAAAGGAGTTAACCATGAGCAATAATAAAAATATAGGCC TGATGGTCCTGAGTCAGTGTCCACATGCCTTTCATTTTGTTACAATAATT CATCCACTTATGGACAAATTTCATGTATTAAATACATTTTTAAGGCAGTG AAAGGAGATTAATACATTAAAAAAAAACTGAAAGCAGCAACATTTTTAAT GGCTATGTAAAATGACAATTTATCTCCCCAGGTTGTGAATGAGAATGCAT GAACCCAACTTTAGCGTCACTCATCTTATTACCATGTTACAAGTTAACAT ACAATTTGTTACTTGTTACTATAATATAGCAACATGAAGGAAAAAGGTGA CGTTAAAAAATTCAGAAGATGAAAAATCAGGGAGAATTGGAGACAGATAC CTGATCAAAGCAAACTCATAGCTTAATTTACCTATACACTTTACAGATAC ATGAGCCAATAAATCTCTTTTAAATTTGAGAACAAATTCAATTATTTTTA CTTGTGTGCTTTTTTACATATAAGTAAAAACATTCGAACAAATTCTGGCA GCCACCTCCAAGACGATACCAATTATTCCAGCCTGGTATTCATATCCTTG TATAATGGCTTTCCATATTTAACAAGGTTTTCCATATTTAATAATATTAA ATACAATATTGCAGAAGTAACAATGTGTAATTTCTGAGGCTAGGTCATAA AGAAGATGGTTGCCTTCAGGTCACTCATTCTTGGATAACTCACTCTGAGT TGGCCAGCTGCCATGACAATCAAGACACTCAGCAGTCCTATGAAGGAGTC CATGATGTGAAAAACTGAGTTCTTTGCCAAAAACCAGCACCAACTTGCTA GTTATGTAAGTGAGACATGTTGGAAGCATCTCCCTGGGGCCCAGTCACAT TTTGAAATAATTACAGCCCTAATCAAAATCTGGGTGACAACCTCTTGAAT ACCTCTGAACCTGAATAACCCACGTAAGCTGTTCCCTTATTACTGAGCCA AAGAAACTGGGTAACACACTATTGTTTATTGATGTTTTCTGTTACTACAT TATGAAGTAATCTGTTATATGGCAATGGATTGATACATATATGTATACAC AATATTCCTGAAAAGCATTTTGTTTGATTACTTTTGATCATTGGTTAAGG CAATACTGATTTCTTTCTGTGCTATTCCCTTCGCGAGCTAAGTAAAAGTG CTAATTAGGATCTCTTTGTGTGCTAAGGGAAATTGGTAATACAAACACAT TTGTGGAAGACAAATTGCATACATCAAAATAAGCACATTGATAATAATAA AATAATGTTTATAAGCTACAGGGACTTAAAAATACTCACTCCGAGGTGAC GGGTTTTTATATTCTTAGATGCAGCTGCTAACCA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	138	0.0073	-1583	c.139 others(19): Show c.1390+8356_1390+9938del		CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	9/12						chr5	TogoVar
DHRSX_chrX_2214506_2505976	2280707	GAGAGAGA others(1576): Show GAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0007 a0004c0014t0005g0007	1	50	0.0200	-1583	c.388 others(18): Show c.388+9212_388+10794del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DLGAP2_chr8_732628_1713476	1401128	CGCCCCCT others(1576): Show CGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTT GTCCTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGAGCTTACTGAGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAG TGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCAGAGTCGTGTATTGCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-1583	c.107 others(20): Show c.107-100237_107-98655del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
EPPK1_chr8_143852324_143883467	143863366	GACGCCCG others(1576): Show GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCT CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG GCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGC CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGT CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGT AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGG CCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCC GCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCG GTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCG AGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTC AGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCC GGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGT TCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCG GCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCAC GTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGG CGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCC TTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGT GTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGC CGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTG CGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCAC CAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGC TCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGC	G G	frameshift_variant frameshift_variant	HIGH	NA18944.hp2 NA18944.hp2	a0200 a0200	a0200c0250 a0200c0250	a0200c0250t0001 a0200c0250t0001	a0200c0250t0001g0317 a0200c0250t0001g0317	1	424	0.0024	-1583	c.830 others(9): Show c.8305_9887del	p.Ala others(6): Show p.Ala2769fs	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9962/16005	8305/15267	2769/5088			chr8	TogoVar
P2RX5_chr17_3668227_3701155	3686153	GCCCCCAG others(1576): Show GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCT GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGC TGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	362	0.0028	-1583	c.981 others(16): Show c.981+276_981+1858del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144624631	TCACTGCA others(1574): Show TCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCAC GGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCA CGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTC ACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTT CACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGT TCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCG TTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCC GTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCC CGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGC CCGGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCCCCGCGG CCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGC GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCC CGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGT CCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTG TCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATC CCCTGTCCCGGCGGCCCGGTTCACGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02886.hp1 others(8): Show HG01891.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0011 a0001c0001 a0001c0004 a0003c0011	a0001c0001t0003 a0001c0001t0021 a0001c0004t0006 others(1): Show a0001c0001t0003 a0001c0001t0021 a0001c0004t0006 a0003c0011t0001	a0001c0001t0003g0023 a0001c0001t0003g0068 a0001c0001t0003g0071 others(8): Show a0001c0001t0003g0023 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0021g0062 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0073 a0001c0004t0006g0074 a0001c0004t0006g0075 a0003c0011t0001g0072	11	246	0.0447	-1581	c.-81 others(19): Show c.-81-20517_-81-18937del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
C15orf61_chr15_67516131_67535146	67518481	GCCAGGAT others(1574): Show GCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTC CCAAAGTGCTAGGATTACAGGCGTGAGTCACTGGACCCGGCCGAGAACTA CATTTCTAAAGTAATGTCATATGTCCTGAGTGCTTTCTCCCCCTGGCTTT TCCACTGTTTTAGCTGGGGATAAGAACAACTCAATTCAAAGGATCCACTT TCACAACCACAACCCCCAGCTTCAACATTTTGCAAGCAACAGGATCAAGA GTCCTGTGGCAGTGGGGCCAGCAATGGCATGCTCGCCAGACTAGTTCCTG TTGGTCTTATCTATGTCTTTGCTGTTCGGACTCTCCTCGTTCCTTCCCAT TTTCTGAGCCTGGTTCTCTAGACTTCTTGTTTACTATTTGGGCTACCTAA TTTTCCTCCAATGAATCCCCTTTCTGCTCAAAACAAAAGAAAATCCAAGA CAACAACACACTGAAGTTTCATTGTTTTGTTTTTTATCTATAAAGTTAAT ATAAAAAATTTGAACTTACAGTTGGACATGGTGGCTTCTGTAATCCCAAC GACTCAAGAGGCTGAAGTGAGAGACTGGCTTGAGTTCTGGACCAGCTTAA GCAACATAGTGAGAACCCACGCCTAAAAAATAAGTAAAATAAAAAGTTAA AAAAAGTTTGAACTTATGCTTAGTAATAAAGCATAAGTTATTTTTGTTTT TTTTGTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTG CAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTTAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCAC CACGCCCGGCTAATTTTTCTATTTTTAGCAGACACAGGGTTTCGCCATGT TGGCCAGGCTGGTCTCGGACTCCTGACCTCAGATGATCCACTGGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAAA GCATAAGTTTTAACCAACTTTATATGTTGGGGACCTTCAACAGATTTCGT TTGAAAAAGGACTCCACTCTTTTTCAAAATTTAATTTGGTCAGGTGCAGA AGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCGGATCA CTTGAGCCCAAGTGTTCAAGACCAGCCTGGGCAACATGGCAAAATTCCAC CTCTACAAAAAATACCAAAAAAAGCAGCCGAGTGTAGGTGGCACACACCT GCAGTCCCAGCTACTTGGGAGGCTGAGGGTGGGAGGATCTCTTGAGCCCA GGAGGCAGAAGTTGCAGTGAGCCGAGATCGAGCAGCTGCACTCCAGCCTA GACAACAGTGAGATCCTTTCTAAAAAAAAGAAAAGAAAAAGAAATTCTAT AAAGTTCAAGTTCTATAAGGTAAAGTTCAACTTCAAATTCTGTAAGGTAA AGTTCAAGATTCGGCATATGTTGGTGGGTGCTCAATGTTCAATAAAAACT GGGGAATAGGCCTGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCAGGTGGATCACGAGGTCATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02155.hp2 NA19074.hp1 others(1): Show HG02129.hp1 HG02155.hp2 NA19074.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0002 a0001c0001t0002g0023	4	416	0.0096	-1581	c.-27 others(11): Show c.-2767_-1187del		C15orf61	ENSG00000189227.6	transcript	ENST00000342683.6	protein_coding					2649		chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144624716	CCCGGTTC others(1573): Show CCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGC GGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGG CGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCC GGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGC CCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAT CCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCA GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGC GGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACT GCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACAC TGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACA CTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCAC ACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCA CACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGC ACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTG CACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACT GCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCAC TGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCA CTGCACACTGCGGCAGCCCCTGTCCCCGCGG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	246	0.0041	-1580	c.-81 others(19): Show c.-81-20601_-81-19022del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
DOP1B_chr21_36151824_36299274	36270290	CGCCTGTA others(1573): Show CGCCTGTAATCCCAGCACTTTGGGAGACCGAGATGGGCAGATAAAGCAAG GTCAGGAGTTTGAGACTAGCCTGGCCAACATGGCGAAACCCCGTCTCTAC TAAAAGTAAAAAAATCAGCTGGGCACAGTGGTAAGCACCTGTGGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATCGCTTCAACCTGGGAGGCGGAGG TTGCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCCAGGCGACAAAGC AAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTAGAGC AGTGACAAGATGTTAGTCAAACTTTAGAAAACATCACTTTGAGGCCAGGC ATGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTG GATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAAC CCCATCTTAACTAAAAATACAAAAATTAGCCGCGCGTGGTAGTGGGCGCC TGTAATCCCAGCTACATGGGAGGCTGAGGCAGAGAATTGCTTGAACCTGG GAGGAGGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGG GCGACAGAGTGAGACTACACCTCAAAAAAAAAAAAAAGAAAGAAAGAAAG TACCTGAGGTGATGCATGTCTTAACTTGTGTTTTTTCACAATGTATGCAT ATATCAGCAGGGATGGTGAAATATTGAAAAAAGAAAACATATATCAAAAC ATCATGTTATAACCTGAAATGTATACCAGTTTTATTTGTCAGTTATATCT AATTAAAACTGGTAAGGGAAAAGATGTTGGAAAGTTAAAAAAAAAAAAAA AGTTTAGGCATAGGAAAAAGCAAACTACCTTCTCAAGTCTGTGTTCATTC ACCCAGACTCTTTCTTTGTTTTTTGTTTTTGTTTTTTTGAGACAGAGTCT CGCTCTGTCACCCAGGTTGGAGTTCACCCAGGTTGGAGTTCACCCAGGTT GGAGTTCACCCAGGTTGGAGTTCACCCAGGTTGGAGTGCAGTGGCGTCAT CTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCCATTCTCCTGCCT CAGCCTCCCGAATAGCTGGGATTACAGACATCTACCACCATGCCTAGCTA ATTTTTGTGGTTAGTAAAGACAGCGTTTCACCATGTTGGCCAGGCTGGTC TCAAACTCTTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCT GGTATTACAGGCGTGAGCCTCTGCGCCCGGCCCAGACTCTTCCTTTGTAT CCATAGCCAGATGACTGAACTGTCTGTTTTGACTTTTTACAACATACTAT GTGTGTGTGCTAAACACCGGGACCCCTTAGCTGGTGTCCCACCATGTGTA TGCCATCCTGCTGACCTTCACTGAGCCTCAGTGGGGCTCCAGAAAGTAAC ACCCCAAGACCATTTACCTGGACATGGTGATAGAAATCTGTGTGGGATAA AGATGATGAGAATGTGTGTGTTTCTTTTTGCAGAACTATGGAAAGAGAAT TTAGCAAATCAAGCTGGGAGGGTTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02258.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG02258.hp1 HG03209.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0015 a0005c0014 a0001c0002 a0001c0015 a0005c0014	a0001c0002t0001 a0001c0015t0001 a0005c0014t0001 a0001c0002t0001 a0001c0015t0001 a0005c0014t0001	a0001c0002t0001g0179 a0001c0015t0001g0176 a0001c0015t0001g0177 others(2): Show a0001c0002t0001g0179 a0001c0015t0001g0176 a0001c0015t0001g0177 a0001c0015t0001g0178 a0005c0014t0001g0161	5	292	0.0171	-1580	c.563 others(18): Show c.5632+159_5632+1738del		DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	27/36					INFO_REALIGN_3_PRIME	chr21	TogoVar
TRIP13_chr5_887884_923120	898272	GTCAGTGT others(1573): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAG GTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCA GTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCA GGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTC TGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGT GGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGT GTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGG GCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTG GCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGG ATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGT GTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC TTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGC AGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGAT TTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGT GGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTT CATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAG GCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTT GGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCA TGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGG ATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGG AAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG CAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCA AGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGAT GGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(11): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG02145.hp2 HG02486.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0029 others(3): Show a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0212	14	402	0.0348	-1580	c.388 others(16): Show c.388+1583_389-538del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG5_chr6_106179476_106330760	106321552	ATTTCACC others(1572): Show ATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCG CCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CTGGCCAACTCTTAATCCTCTTAAGTGTCGGCTTAATATCAGCTCCTTGG GAAGTTTTCCCCTATGCAGCCTCTAGTCTAATTACTTCTTTAATAGCATG CACTATCATGCAATGTAGTTATCTGTTTATCTTATCTGTCTCCTGCCCCT CCCCACATTGAACTGGGAGTTCTTTGACAGCAAAATTTAGTCATAAGTAC CTTCTTATCACCAATATTAGTACAGTTAGCACATAGTAGGCTTTGAAATT TTTGTTAAATAATGGGGAAAAATATATAAATATATGAATCTAGCTACTTA AGAAATTTTCTCCCTAAACTCCTCTCCAAATCAGTATAGTCGCACTTTAA ATTCGGCATATTTTGTTATTTTAGAAAGATTTTCCCTCTCCTACATACAC TACACCATCCAATCACCATCCAATTTCAAGGAACTGTCTTGGAAATAAAG AAACTCCAACCTGTGACGCAATCTACTAGAAGTAAGTTTCTTGAGGGCAG GGGCTATTATTGACTTCTATTTTCTGCATCTAGTTCAGAGCCTGGGACAG AGTAGGTGCCCACCAACAACATCTGTTAACCAATCAGTCATTCAGAAAAT GGCACGGTGTGACAACAATATAATGCATAATAGTTTCTTTCACACTACAT ACCAAGAAAAACTAACCTACTACCTGAAGTAATTTTCACTGACAAAACCC CCAACTACCTAGAAATATCAAATACTTACTAAACTAAGCGTGTAAACAGA AAAAAAATTATAATCTATGCTGGCTGGTCTTCCTTTAAATTCATAAACAC TAGTTTCCTACTCTTCCCTAGTCCATTTATTCTCCCACTTTCCTACATCA CTATTCTATACCTTCTCCTCCCTCAAATGTTCACTTCTTCCTCCTCCTCC TCCTCTCTCTCAGCTAATGACCTTGCTTTCTATTTCCTTCTATCCAGGTA CTGTGAATCAGTGATTCTCAAGAGGAATTTTACTCAACAGTCCCACCCTG GGAGGGAGGAAATTTTGTAAATCTCTCCAAACTGTAAATGTTGAAATGCC CCAGGACTCAGTCCTTGAACCACTCCCTTGAAGATCTCTCACATGGTTTT AAATAACACTTATACATTTACACTCCCACAGTTTTATCTTCTGTCCAGAC TTCTCTTTTGAACTGGCTGGCTTCACATATACCACCACATATGACATTTC CATTTAGAAATTTAACATATGCAAAACGGAAAACCATTTCAGATCTTCCT TCCTCCTCTCTCCTATCATTTATTTTATTTTATTTTGAGACGGGGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCTCTGCAAG CTCTGCCTCCCGGGTTCATGCCATTCTCCTGCTTCAGCCTCCCAGTGGCT GGGACTACAAGCGCTTGCCACCAGGCTCGGGTTTGTTTTTTTTGTTTGTT TGTTTTTTTGTATTTTTAGTAGAGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	358	0.0028	-1579	c.-59 others(17): Show c.-59+2395_-59+3973del		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	1/7						chr6	TogoVar
CTNNA3_chr10_65907523_67701195	66301140	ATGAATAG others(1572): Show ATGAATAGGCTTATAGCTATTGAGGAGATTGGATCAATAATTAATAAACT TCCAAAACAGAAAGAACCAGGACCAGATAGACTCACTGGTTAATTCTACC AAACACTGAAGGAGGAAATTATACCAATTCTTTCCATCTCTTCCAGAAGG TGGAAGCAGAGTGAATACTTTCCAACTCATTCTATGAGGCCATAATTCCC CTATTACCAAAACCAAAGACATTGAAAGAAAGGAAAATTACAGATCAATA TTTCTTACGAACATAAATGCCAAGATTTTTAAGAAAATGTTAACAAAACT AATTGAATTATGTATAAAAGGAATTATATACTAATTCTTTTAGTATATAA ATAATTTTATTATAAATAGTCATAAATAAATCTACAAAGAATCAAGTAGA TTTATCCCAGGTATGTAAACCTGATTCAGCCTTCAAAAATCAATTACTAT AATCCATCATATCATTAGGCTAAAGAAGAAAAATCACATAATAATATTAA AAGGAAAAGCATTTGACAAAATCCTACACCCACTCATAGTAAGAACTCTC AGCAAAGTAGGAATAGAAGGGACCTTTCTCAACTTAATAAAAAACATCCA CAAAATGCCTACAGTTAACATCATACTTAATGGAGACAAACTAGATCTCT TCCCACTAAGATCAGGAAGAAGGCAAGATGTCCACTCTCACCACTAGTGA ATGTAATAAACAATAAAAGGAAATAAAAACCATTCAGACTTGGAAGGAAG ATTAAAAATCTCTTTGTAGATGACACGATTGTCTATATAGAAAATAGCAA AGAATCAATTTAAAAAGTCCTGGAACTAATTAATGACAGCAAGCTTGTAG GATACAACTCAAGTCTTTTGATTTCTTATACACCAGCAATGAAAAACTAA AATTTGAAATTAAAAACACAATGCCATTAACATGAGCACCAAAAAAGAGA TACTTAGTATAAATCTAAAAATAATATCTACGAGATCCATGTGAAGAAAA TTACAGAACTCTGATGAAAGAATTCAAAGAAGATCTACATAAATGGAGAG TGAGTTCCGGTGCCTAGATAGGACTCAGTATGGTCTAGATGTCAGTCTTT CCCTACTTGATGTACAATCAAGTTAATATTTAATACAATCCCTATCAAAA TTCCAGCCAGGCATTTTGGGTATTTACTAATTGACCCTAAACTTAACAGG GAAAAGCAAAAGACCCAGAATACTTGATACAATATTGAAAGACAAAATTA GAGGACTGACACTACCTGACTTCAAGACCTACTATAAAGCTACAGTAATC ATGACAGCATTGTGTTTGTAAAAGAATATACATAAAGTAAAAGAAACTGT GAAAAGTTGTCACATTTCGAAAGACACTATGAAGACGTGATAACTAAATG CAATGTGATATTCTGGAACAGAAAACAGACATTAGTAGTGAAATTTGAAC AAAGTCTACAGTTGCCTTGCACCAATGCTAATTAATTAGTTTTGACAAAT ATACCATGATAATGTAAGATGTTAACTTTAAGGGAAACTGGTAGAAAGGT ATGTGGGCACTTTACTATCTGTACTATCAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0011 a0001c0001t0023g0011	1	46	0.0217	-1579	c.173 others(21): Show c.1733-22098_1733-20520del		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1572): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19066.hp1 NA18979.hp1 NA19066.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0278 a0002c0009t0001g0279 a0002c0009t0001g0278 a0002c0009t0001g0279	2	294	0.0068	-1579	c.901 others(14): Show c.901+62_902-446del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148962	TACCACAC others(1572): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	294	0.0034	-1579	c.901 others(15): Show c.901+106_902-402del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE10A_chr6_165322289_165668241	165500531	CCATTCTC others(1571): Show CCATTCTCTAACCTCAAGTACCCAGGGACACAATACACAGGGACCTCTGC CTAGGAAAGCCAGGTATTGTCCAAGGTTTCTCCCCACATGATGGCCTCAT GGGAAGGGAAAGAACTGACCATCCCCCAGCCAACACCCATAAAGGGTCTG TGCTGAGGAAGATAAATGAAAGAGGAAGGCCTCTTTGCAGTTGAGATAAG AGGAAGGCATTTGTCTCCTGCTGGACCCTGGGCAATAGAATGTCTCCAGG GGCAATAGAATGTCTCGGTGTAAAACCCGATTGTATGTTCTATTTACTGA GATAGGAGAAAACCGCCTTAGGGCTGAAGGTGAGACATGCTGAAGGCAAT ACTGCTCTTTACGGCACCCAGATGTTTGGATGTTTGTGTACGTGCACATC AAGGCACAGCACCTTTTCTTTAACTTATTTATGACACAGAGACCTTTGTT CACATGTCTTCCTGCTGACCCTCTCCCCACTATTACCCTATTGTCCTGCC ACATCCCCCTCTCCGAGATGGTAGAGATAATGACCAACAAATAATGAGGG AACTCAGAGACCATTGCCGGCTCGGGTCCTCCACATGCTGAGCGCCGGTA CCCTGGGCCAATTTGTCTTTCTCTATACTTTGTGCCTGTGTCTCTTTCTT TTCTCAGTCTCTCATCCCACCTGACAAGAAACACCCACAGGTGTGGAGGG GCAGGCCACCCCTTCATGGCATGAACACCTAGGTAAAAAGTTCTGAGGAG GCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAG GCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCG GGCGCCTGTAGTCCCAGCTACTCAGGAGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCAGAGATCGCG CCACTGCACTCCAGCCTGGATGAAAGGGCGAGACTCCGTCTCAAAAAAAA AAAAAAAGTCCTGAGGAATCTGCAAGAAACTACTAGAATGAATATGTGAG TTCAGTAACGTCACAAAATGCAAGGTAAGAAAACTTCAAATCCTAAATAA ATAGTTAAGGATACCCTGTTGAAGGATCAGAATTGTTACCAATTTTCCCC AAATTGATCTGTAGAGTAAATACAGGCAATTCAAAATCTCAACGGCCTTC TGTCGAACTTGACAAGGTATCTGTAAAATATATATGGTAATGCAAATGAC CCAGATGAGCAATGTCAGTTTTTGAAAATAAATAAGTTGTAGAAGTTATG CTACATTCCAAGACTTCCTACACAGCTACATTCATCAAAACAGTGTGGTA CTGACATAATGAGAGACATGTAAATCAACGAACCAAAACAGAATCTAGAA ATAGACATATGCATATATGTGAATTTAGGCAAAGATACCAAAGTGATTCA ATGAAGAAAGGATAATCTTTTTCAACAAATGGTGCTGGAAGAAATGGATA TTCATAAACAAATTAACCCTTACCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	222	0.0045	-1578	c.995 others(19): Show c.995-19766_995-18189del		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
RIC1_chr9_5624107_5781557	5750020	ACCTGCCT others(1571): Show ACCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCA CCCAGCCAAAGCAAGCACCAGCAAGCACCAGCCAAGGTGCTTTTTAAAAA GTTTTTTCTTACCTATAAGTTTTAAAACTTTTGAAGTCATTTGTTGACAT ATGGGGCACAAACTATTGAAATTTTACAGAACACAAAGTTTCTAGTTTTA GGCCATGTTCCTTCTAAGACTGCCATTTATTTTAATGCTCAGTATTTTGT ATGATGTAAGCATTTACTTCTGAAAGGTACATAAATCTATTATCCATTGT TCTGAGGGTGTTGGTTTGATGGTTAGCTTGGCTATTTAGAAAGAATAAGC TTCACAAAATGTGGAAGATAAGCACCTACAGGGTATCAGGCACTATGTTA GGGATTTCAACAGAGAGTATTTAAAGGCTCTTTCATTCATAAATTATTTA CTGTCTTCCTACAGTATGTATCAAGTGTACCAGGTATTTGGCACAGAACA AATCTGCTAGGAGGATGGCTCCCACAGTCTCACTAGTTATAGACAAAACT AATCTAGGCAGGAGACAGAGTTTTAGCAGAGTTACTTTAAAATTTAAAAA TCATAATAACAAATGAGGGCGGATTCAGTTTCTTTAAGAGAAACTGAAAC ATTCTAAGATAAGGGTAGAGTTTCTGTACCTTAGCACTCAGTTTTCCAGT GATGTGGCATGACTTCAGTGCCCTGAGTGTGCTTTCATGACCTGTTTTTT TTGTCACTGATCAGCTGCCTCTTCCTTACTTCTGCCATTCCCTTTTATCA AGTATTAGAGGTAGAGCTCAGAGTTCAGATGACACATAGATCAATAAAGT TGACCTACTGGAGAAAATACATAGTATCTTTAGACACAAACTGCATGAAA AATAAAGCTTCATTCTAAACTTAACACCTTAAGTTTTTAAAATACATCAT TTGTGGCACTTCATAGATTTTTGTAGAATAAAGAATAAATTGTTTTATAG ATATTGATCATAGTGTGATCATTTGATAAGATTTAACTTTGGTTCCCATT ATTAGAAACTCTTTGTGTTAGAATCCACTTTTGCAGTAAGATCCCAGCTC CTCCATTACCCACCCACACGTTTCATAAGTACTCATGAAACACCAAGGTT TGAGGGAGGTAAGGATTCCTTTTAGTGCAATGGATGATTGACACAGTTAT ACTCAGGTACATCCTCCTGCTGTGAGTGACTGCTGAAAAAAGTTGAAAAT GCTTTCAAGTTTTATTTCACCACCCAATCATTACCTTAAGTGTACCATTA TTCTGAACTAATTTTACCCATCATAGTGATCTTTTTGGGGGTCTGGGGGG CAGGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCA ATCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAGGTGATTCTCCTGC GTCAGCTTCCCGAGTAGCTGGGATTGCCGGCACCTGCCATCACGCCTGGC TAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGCTGGCCGGGCTG GTCTCAAACTCCTGACCTCAGGCAATCTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp2 others(1): Show HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 others(1): Show a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153	4	328	0.0122	-1578	c.145 others(19): Show c.1452+2537_1453-1581del		RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF516_chr18_76352682_76500242	76393028	CAGGTGGT others(1571): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18949.hp2 HG01934.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0003 a0001c0033t0003 a0001c0001t0003 a0001c0033t0003	a0001c0001t0003g0258 a0001c0033t0003g0260 a0001c0001t0003g0258 a0001c0033t0003g0260	2	346	0.0058	-1578	c.181 others(21): Show c.1811-14303_1811-12726del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
KPNA4_chr3_160490007_160570571	160516290	CTCCAAGA others(1570): Show CTCCAAGAAACCTATTCTTTTTGAGCACTTAGCATCAGGCACTGATGTAG GAACAGAGATGTGAAGATAGACACATGTTCCAGCTCTTACAGAGCTTATA TTATTGTAAGAGAGGAGTCAATAAACAAGAAGGATAATTTTAGATAGTGC CATAAAAAAAAAAAAGACAGAACTTTAGATTTAGTGTTGAAAATATAAAA ATAAAAACAGCTAGGTGCAGTGGCTCACGCCTGTAATTCCAGCACTTTGG AAGGCTGAGGTGGGTGGAACACTTAAGCCCTGGAGTTTGACACCAGGCTG GGCAACATGACAAAACCCTGTCTCTACAAAATATTAGCTGGGTGTGGTGG CACGAGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGTGGGAGGATTGCT TGAGCCTGGGAGGTCCAGGCTGAAGTGAGCTGTGATCATACCACTGCACT CCAGCCTGGACAACAGAGTAAGACCCTGTCAAAAACAAAAAGACAAAAAA CATAGTGCCTTTCTGAAGGAAAGAAGATACCTGCCTAACATGAGATTTCA CTATGGTATGAATTTGAATTATCAATTATTTTTCTGTGGTTGCATGAGGT CATTTCCTGTTAAGTAAAGCTTTTTACTCCTCTAATTTTCCTTTCTACAT GACAAATGATCCAAATTTTTTAAAAAATTGAAATAAAATTCATATAACAT AAAATTTACCCTTTCAAAGTGTACAATTCAGTAGTTCTTAGTATATTCAG AGTTGTGTAACTATTACTAGTATCTAATTCCAGAACACTTTGATCACCCC AAAAAGAACACCTGTATCCATTAGTGATCACTCCCACACTGCCTTCATCC CTAGGTCCCTGGAAGACACTATGCCTGTCTCTAAGATTTTGGCTATCTTG GGCACTTCATATTAACAAAATCAAAATGTATTTGGCCTTTTTTGTCTAGC TTCTTTCATTTCACATAATGTTGTTAAAAGTTCGTGTTACAGCATGCATC AATACTTTGTTCCTTTTCATGACCAAATAATATTTCACTGTGTGAATGTA TCATATTTTATTTAACCATTCATTGGCTGACATTCAAATTGTTTTCATTT TTTGGCTATTACAAATAACGCTGCTGTGAATGCTTGTGTATAAATTTTTG TGTGGATATGCATTTTCATTTCTCTTGGGTATGTACCTAAGAGTAATTAA TTGCCAGTTCATATTGTAACCTTATGTTTAACTTTTTGAGGCACTGCCAA AACTATATTCCAAAGCGGCTGTACCATTTTATATTCTCACCAGCAGTATA TACGAATTCCAGTTTCTCACACCCTCACCAAAAGTATGTTATCGTCTTCC TAACTATAGCCATCCTGGTGGGTGTGAAGTAGTATCTCACTGTGGCTTTA ATTCCCTTTCCTTAATGACTAATGATGTTGAGCTTCTTTTCATGTGCTTA CTGACCATTTGTTATATCTTCTTTAGAAGCCTGCTTACTCAAATATTTTG CCAAGTTAAAAACTGAGTTGTCTATTTTTGAGTAGTAACAGTTCTTTATA CATTAAATATTTTAGATGTAAATCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0102 a0001c0001t0031g0102	1	308	0.0033	-1577	c.904 others(16): Show c.904-2287_904-711del		KPNA4	ENSG00000186432.10	transcript	ENST00000334256.9	protein_coding	11/16						chr3	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(1569): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTG GCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCCCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	-1576	c.-1- others(14): Show c.-1-1825_-1-250del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
DECR2_chr16_396885_417482	412601	GCCCAGGC others(1569): Show GCCCAGGCTGGAGAGCAGTGGCGCAGTCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCGTTCTCCTGCCGCAGCCTCCGGAGTAGCTGGGACT ACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAT GGGTTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CACCTGGCTTTATTTTTTATTTTTAATTTTAATTTTTATTTTTTTATTTT TTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGAT CTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCTATTCTCCTGCCT CAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCCCCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATAATAGCCAGGATG GTCTCAATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCATCTGGCCTATTATTTTTTTTGAGA GTGTTTCGCTCTTGTTGCCCAGGCGGGAGTGCAGTGGTGCGATCTCAGCT CACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTC TCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGACCGGCTAATTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCCAGGCTGGTCTTGAA CTCCCAACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGAT CACAGGCGTGAGCCACCACGCCAGGCCTTCTGTGACGTTTAGAACACTCT TCCTGCCTCATGCTGGAAGCCCCAGTCTACAGGCAGGGTGCTGCTCTCTT GGCAGAGGCCGCGTGCTCAGATGCAGCCGACACTGAATGTTGGGCCCAGG ACCAGCCAGGCCACTGGTTGCCTCTCTCCTGGGTTTGGTCACTGCCACAG CTTTCCTCCTCTGTCGACATGGCCCCCAGCCCTGCTGCACGTGGGAGGTG CTGAGCAGCAGGAGGCTGGAGGGAGGTGTGTGGCTGTGCCCACCAGGGCC CCCATGGCTGCCCTCACAGGAGGGGAGCAGCTCCCATCAGGTATGCCCCT CAGCCCTGCGGTCCCCACTCTGTTCCTCCGAGCTCCCAGCTCACTGTCAC ACCAGACCCTGAATGTATTCAGGCTTTTACTTCCTGACAAGGAGGAAAAA AGATTTGTTTTTTGTTTTGTTTTGTTTTTGTCAGAGACAGGGTCTGGCTC TGTCAGCCAGGCTGGAGTGCAGTGGCACAAACATAACTCACTGCACCCTC CAAACTCCTGGGCTAAAGCGATCCTCCCACCTCAGCCTCCTGGGTACCTG GGACCACAGGCACACACCGCCATGCCTGGATGTTTTTTGTATTTTTTGTA GAGACAAGGTCTTGCCATGTTGCCCAGGCTGGTCTTGTTTTTTTTTTTTT TTTTTGAGATGGAGTCTCGCTCTGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18612.hp2 NA18946.hp2 others(2): Show HG00609.hp2 NA18612.hp2 NA18946.hp2 NA18963.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0065 a0001c0001t0001g0072	5	367	0.0136	-1576	c.71 others(10): Show c.713_*2288del		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					120		chr16	TogoVar
KLK4_chr19_50901351_50916395	50903499	AGAGTAGC others(1569): Show AGAGTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAAC TCCTGACCTCAGGTGATCTGCCCACCTCGGCCTACCAAAGTGCTGGGATT ACAGGTGTGAGCCACCACGCCCGGCCAGCTCTTTTTCTTCTATAATTATG TGCTTATGGCTGCATGTTTCTCTCCGAGCACTGTAGTAGGCATACGCAAT ACATGTGTATACATCTGGTATTTTCCTTAGCATTTAATTCCAAATATTTT CTAATTTCCATTATATCTCTTGTTTGAACTCTGGGTTCTTTAGAGGTGTT CTTTTAAAATCAAAACGCACAGTCCTAGATGAGATAACTCAGAAACAGCC AGTCAAATACCACATGTTCTGTCTTATAAATGGGAGCTAAACAGTGGGTA CAGACAGGCATAGAGTGAAATAATAGACACTGGAGACTCCGAAAGGTGGA AGCATGAGAGGGGGTGAGGCGAAGGAGGAAAATGACCTGTTGGGCACAGT GCACACTACTTGGGTGATGGGTACAGTAAAAAGCCCAGAGTTCACCACCA CACAACATATCCCTGTAAGAAACCTGCACTTGCGGGCGGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCCT GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACCAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGCGAGGCTGAGGCAGGAGAATGGCGTAAACCCGGGGGGCG GAGCCTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGCGACA GAGCCAGAGCGCGACTCCGCCTCAAAAACAAAAAACAAAAAAGTGCACTT GCACTCCCTAAGACCATTTTGAAAACACATGAGGATTTTCTGGTTATCAT GATTTCTAGCTTAATTACATTGTGGTCAGACAACATACTCTATATATTCC AACTTGGAAATTTGTTGAGACTTGCTTCGTACCTCAGTAACAGGTTCACT TTTGTAAATGCTATGTGTGGTTTTTAAATTGAGGTAAAGTTTTTATTGAG GTATGCACAGTGTGGCGTTAGAGTTCAATGAGTTTTGGCAAATGCATACT CATGTAATCCTCACTCCTGTAAAGTTATGGAAAATTCCCATCACCCGAGA ACGTTCTTTTACCCTTATTCCCAGTCTGTTTTTTTTTTTTTTACTTTTAT TTTTGAGATGGAGTCTCACTCTTTTGCCCAGACTGCTGTGCAGTGGTGTG ATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAAGTCTCCCAC CTCAGCCTCCAGAGTAGCTGGAATTACAGGCCCCCACCAACACACCCATC TAATTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCTGGCT CGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTT CAAGTGATTCTCCTGATTCAGCCTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(89): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18969.hp2 NA18993.hp1 NA19030.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 a0001c0002t0007 a0001c0006t0003 a0001c0014t0003 a0004c0009t0003	a0001c0001t0002g0109 a0001c0001t0003g0021 a0001c0001t0003g0025 others(24): Show a0001c0001t0002g0109 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0048 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0136 a0001c0001t0013g0114 a0001c0002t0003g0002 a0001c0002t0003g0008 a0001c0002t0003g0030 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0141 a0001c0002t0007g0033 a0001c0006t0003g0111 a0001c0006t0003g0129 a0001c0014t0003g0146 a0004c0009t0003g0055	92	414	0.2222	-1576	c.18 others(11): Show c.1859_*3434del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2851		chr19	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1568): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTC AAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGC TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACT GCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0114 a0015c0026t0001g0114	1	185	0.0054	-1575	c.164 others(19): Show c.1645+3033_1645+4607del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408439	GCAGGAGG others(1568): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCA ACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGG AGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAAT GCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCACTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0093 a0002c0003t0001g0093	1	185	0.0054	-1575	c.164 others(19): Show c.1645+2718_1645+4292del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
S1PR4_chr19_3173769_3185332	3173941	CTCTCATG others(1568): Show CTCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGAC GCCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGCATTCTC ATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACACCTG TGTTCTCATGGGATGCCTGTGCCCTCATGGGATGCCTGTACCCCTCATGG GACGCCTGTGTTCTCATGGGATGCCTGTACCCTCATGGGACGCCTGTACC CCTCATGGGACATCTGTGCCCTCATGGGATGCCTGTGCCCCTCATGGGAT GCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTC ATGGGACGCCTGTGCCCCTCATGGGATGCCTGTGTTCTCATGGGATGCCC GTGCCCCGCATGGGACGCCTGAATTCTCATGGGACACCTGTGCCCTCATG GGACACCTGTGTTCTCATGGGACGCCTGTGTTCTCATGGGACACCTGTGC CCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCA TGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTG TGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCAT GGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTG TTCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGA CGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCT CATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCC TGTGCCCCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCAT GGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGT GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGG ACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTC TCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCATGGGACGC CTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCA TGGGACACCTGTGTTCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGT GTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGG ACGCCTGTGCCCCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGCGTTCTCATGGGACGCCTGCATTCTCATGGGACGC CTGTGCCCTCATGGGACACCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-1575	c.-48 others(11): Show c.-4851_-3277del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					4827		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131400284	GCCATTTT others(1567): Show GCCATTTTGCCCAGGCTGTTTGTTTTTCTTTTCTTTTCTTTCTTTTTTTT TTTGAGATGGCATCTTGTTCTGTTGCGCAGGCTGGAGTGCAGCCGTGCGA TCTTGGCTCACTGCAACCTCCACTTCCTGGGTTCAAGCAATTCTCGTGCC TCAGCCTTCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCTGGCTA CTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGG TCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTG CTGGGATGACAGGTGTGAGCCACCGTGCCTGGACACCCAGGCTGTTTCAG ACTCCTGGACTCAAGTGATCCCTCCGCCTCCGCCTATCAAAGTGCTGGGA TTACAGGCATGAGCCACGGCACCCAGCAAGGCAGCCTCTTTCATGAGCCA CTAGGTTCTGGGGGGTCTCAGTCCTGGTTAAGCCCTTTGATGAGTGGGGC TTGAGGTCTTACTCCATTTACTGGTTTGAACCTGGAGAAGCCTTTTGTCT TAAACAGTTTTTGTTTCTAGGGACATGGATGCCCCATTGACTCCTGGGGA GATCCTGGTCTGGTGGGGAGGAGGCCCTGGAGAGCCCCCCACCTAACTTT GGCCTCATCCTCTTGTGGTTTCTTTCTTTCTTTTTTTTTTTTTTTGAGAC GGAGTTTTGCTCTTGTTGCCTAGGCTGGAGAGCAATGGCGCGATCTTGGC TCACTGCAACCTCTACCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCT CCTGTGATTTCTTCGGAGCCCCCTACAGTTTCTCTTTATAGCAGTTTTCA CAACTTGTAAATAGGTGTTTTTTTCTTTATTTGAATTTTAAAAATTGTGG TGAAGTATACATAACATAAAATTTACCATTTTTAAGTGTACAGTTGAGTG GCGTGAAGCACTTTCACAGTGTTGTGCAACCATCACCACCATCCATCTCC AGAACGTTCTCATCTTCCCAAACTGAAACTCTGTTCCCATTAGATGCCAA CTCCCCTCCCCCATCCAGTGGCGGCGGCCACCATTCTTACCATTCTTTCT CCTTTTTTTTTTTTTTTTGAGATAGGGTCTCACTGTCGCCCAGGCTGGAG TGCAGTGGCACGATCTTGGCTCACTGCAACCTCAGCCTCTTGTGTAGCTG GGATTACAGGCACACGCCACCACACCCAGCTAATTTTTGTATTTTTTTGT AGAGACGGGGTTTCACCATGTTGGCTAGTCTGGTGTCGAACTCCTGGCCT TAAGTGGTTTGCTTACCTCAGCCTCCCAAAGTGCTGGGATTACCGGCATG AGCCACCGTGCCTGGCCTAGTTTTTGTATATTTTATTTTATTTTATTGAG ACAGAGTTTTGATGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCT CACTGCAGCCTCTGCTTCCTGGGTTTAAGAGATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGATTACAAGCGCCTGCCACCATGCCCAGCTAATTTTTG TATTTTTAGTGGAGACGGGGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0019 a0002c0003t0003g0019	1	216	0.0046	-1574	c.-52 others(17): Show c.-52+6026_-52+7599del		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
NBPF20_chr1_145285005_145430603	145354099	TAAATGAT others(1566): Show TAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGA AAACCAACAGCAATATCAGGAGGAGTAATTCAACCTTCGTTGAAAACATG AAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAA CACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGG TCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTC AGACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCA CTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGA CACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGA TTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTA GATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCC ATATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAG AAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCACG GTAGCGAGGATTTTAGACGCTGAAATTAGAGTGAAGGATGAAATCTACAA GATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTG CCCAGGTCCAACGTCATGAGAGTAGGATTAGGGCGCCACAGGCATGGCCT GAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTC CAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGACCTCCC TGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATA TGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGT ACTCACCATCCATGTCAACAGCCAAGCCAACACGCTGTTGCTCCAATACG TAAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGACAACC TGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCC CTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTA AAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCA TGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATG AGGTAACAAATTATTGCCTTTATGTTGGGATAGAACAGGGCCAGGTAGAA AACAATGAAAGAGAAAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGACAGAGACAGAGACAGAGAGAAAGTGACCTAGTGAATTGGCCAGGTG ACATACTGGTAAGGGAGTAAAAGGACACTCTGAGTTAGTGCCCTCATGAC ACACAGCAAACTGTGATCATGAAAAGAGTGAGCTCAATAGTTTTCCATAA AATATGCTCAAAATTCGATGCAGTGGCCATGAGAGTACAGCTTTTGAAGT ATGGTCAACCTATGGTACGTTAGG	T T	exon_loss_variant exon_loss_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0001 a0004c0003t0001g0001	1	6	0.1667	-1573	c.689 others(17): Show c.6896+184_7121+184del		NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	64/143						chr1	TogoVar
NBPF20_chr1_145285005_145430603	145358846	TAAATGAT others(1566): Show TAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGA AAACCAACAGCAATATCAGGAGGAGTAATTCAACCTTCGTTGAAAACATG AAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAA CACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGG TCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTC AGACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCA CTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGA CACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGA TTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTA GATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCC ATATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAG AAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCACG GTAGCGAGGATTTTAGACGCTGAAATTAGAGTGAAGGATGAAATCTACAA GATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTG CCCAGGTCCAACGTCATGAGAGTAGGATTAGGGCGCCACAGGCATGGCCT GAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTC CAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGACCTCCC TGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATA TGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGT ACTCACCATCCATGTCAACAGCCAAGCCAACACGCTGTTGCTCCAATACG TAAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGACAACC TGAAGGAGTTGAATAACTTCTATCCAGTGAGTCCTGCAAGACTTCAGGCC CTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTA AAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCA TGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATG AGGTAACAAATTATTGCCTTTATGTTGGGATAGAACAGGGCCAGGTAGAA AACAATGAAAGAGAAAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGACAGAGACAGAGACAGAGAGAAAGTGACCTAGTGAATTGGCCAGGTG ACATACTGGTAAGGGAGTAAAAGGACACTCTGAGTTAGTGCCCTCATGAC ACACAGCAAACTGTGATCATGAAAAGAGTGAGCTCAATAGTTTTCCATAA AATATGCTCAAAATTCGATGCAGTGGCCATGAGAGTACAGCTTTTGAAGT ATGGTCAACCTATGGTACGTTAGG	T T	exon_loss_variant exon_loss_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0001 a0004c0003t0001g0001	1	6	0.1667	-1573	c.616 others(17): Show c.6164+184_6389+184del		NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	58/143						chr1	TogoVar
NBPF20_chr1_145285005_145430603	145363600	TAAATGAT others(1566): Show TAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGA AAACCAACAGCAATATCAGGAGGAGTAATTCAACCTTCGTTGAAAACATG AAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAA CACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGG TCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTC AGACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCA CTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGA CACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGA TTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTA GATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCC ATATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAG AAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCACG GTAGCGAGGATTTTAGACGCTGAAATTAGAGTGAAGGATGAAATCTACAA GATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTG CCCAGGTCCAACGTCATGAGAGTAGGATTAGGGCGCCACAGGCATGGCCT GAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTC CAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGACCTCCC TGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATA TGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGT ACTCACCATCCATGTCAACAGCCAAGCCAACACGCTGTTGCTCCAATACG TAAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGACAACC TGAAGGAGTTGAATAACTTCTATCCAGTGAGTCCTGCAAGACTTCAGGCC CTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTA AAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCA TGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATG AGGTAACAAATTATTGCCTTTATGTTGGGATAGAACAGGGCCAGGTAGAA AACAATGAAAGAGAAAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGACAGAGACAGAGACAGAGAGAAAGTGACCTAGTGAATTGGCCAGGTG ACATACTGGTAAGGGAGTAAAAGGACACTCTGAGTTAGTGCCCTCATGAC ACACAGCAAACTGTGATCATGAAAAGAGTGAGCTCAATAGTTTTCCATAA AATATGCTCAAAATTCGATGCAGTGGCCATGAGAGTACAGCTTTTGAAGT ATGGTCAACCTATGGTACGTTAGG	T T	exon_loss_variant exon_loss_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0001 a0004c0003t0001g0001	1	6	0.1667	-1573	c.543 others(17): Show c.5432+184_5657+184del		NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	52/143						chr1	TogoVar
COL22A1_chr8_138583235_138919041	138763148	GGGCTGAG others(1565): Show GGGCTGAGGCGGGTGAATCACCTGAGGTCAAGAGTTATAGACCAGCCTGG CCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAATTAGCCGGGT GTGGTGGCGTGTGCCTGTAGTCCCAACTACTTGGGAGGCTGAGGCACGAG AATGGCTTGTACCCAGGAGACAGTGGCTGCAGCAAGTTGAGGTCATGCCA CTGCTCTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTCCAAAAAAAAAG AAAAAGAAAAAGATCCCTATGAGCAAGTCCACTGAAAACCTTCCTGCTGA GGATAGGTAGTGAGTCAGTGCCATCGTCTTCCCCTAGCTGTGCCCTGGTT TTCTTGAGCCAACTCCCAGGTGCTGGTGTGTTCAAGTCCTGGGCTAACTC AGGCCTGGTGTTCCCAGTGGGGGTCCTTCTTCCAGGTGGGCTGCAAGAAC TCCGTGGGGCAGACACTCCAAATGGTGGGTTCAGGCTCATCTGAACAGTC TCCCACCTGCACCCCAGCAGCTGCGGCTTCCTTCATCAGGCTCCTCAGAC ACAGCCACTTTGTTCCGGCTTCTGCCTTCCCTGCCTCCTATTCCCTCCGC TGCCTCCCCTGCACCCTTCGGGGCTCAGATTCAGTGTCCCCTCCTGACCT TTTCATCTAAATGAGAGACTCTCTTCGGCTGCAGCATGGTCTCATTTTCT TCTCCCTCATCTCCCTTAATTCAATTTTCATCTATTATCCCTGTACACGC ACCTCCCCAGTCACACGAGGACAGGAGGTGCGTTCACTCTTGGTTCTTCC GTTCCTGGAGCCTCAGTGTGGGCCCCGCTGACATTTACTGAATGACTGGA AGATTATATATACAAATTATGTTGAACTCTCCTTCTATTTCTTTATAACC TCATTTCCCAAGTCGTGATTTCTTTGCTGCTTTTTCCGTTTGAGGTTGGT TCCTCTCTTTCAGGATGTTGTTTTTCTTCCAGGGGTTGCAGGTTCTTGGT TTTCAGCTCATGGCTGCTGTGCTCGCTGTGGGTGCCTGCCCACCAGTGGA CAATGATTCTATTCACTGCCGCTCCCTCTGGGGATGGCAGGGCAGGGGGA ACCTCCCGTGGGTGGGATGCAGAGGAAGGTTTTCTTCCTTGTGTGGCTGC TCCTATCTCTCCCCGGGCTTGCTGGCTACCTGCGGAGTGGGTCTCTCCTT TCATCTGGAAACAAATACTGAGGCTTCCTACTGCCCAGGATGGGCAGGGA ATGGGGCAGGGGCTGCCTGACTCTGCGTCTCCAAGTGCAGGAAACCAGTG AATCACTGACGCCTGCCTCAGGGTCCCCCCATTCCCCATACCCACTGATG TGAACGTAGGGGTGTCCCAACCCTCTCTGGGCTCTGCAGTTTGGTTTGCA GGCCCCTGGCCTTGCTTCTACATAAACTTAATCCTACATGTTTTCTATCT TTCAGAAATTATTTTAAAATTCCAGAACATTGATGTACACTTGTATTTTC AATCACAATTATACACTAATCTTTTAAAAAGGCTTTCCCAGTGGCTCATG CCTGTAATCCCAGCACTTTGGGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	158	0.0063	-1572	c.180 others(18): Show c.1804-2254_1804-683del		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	16/64						chr8	TogoVar
CATSPER2_chr15_43623503_43653844	43625017	AGCCTGAG others(1561): Show AGCCTGAGGCAGGAGAGTCACTTGAGCCTGGAAGATCAAAGCTGCAGTGA GCTATGACTGCACCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACCCTG TCTCAGAAACCAAACCAAACCAAATAAACAACAACCACAAAACAGGGGAG GAGATAAAATTACTATCTTCACGGACGTTTTATTATTTGATCATATGAGG AACTAGTTAGGAGGGACAGGGATTTCTGTTTTGTTCATTCACTGATATAT CCCAAGTGTCTAGAACAATGTTTGGAATGTACAAACTCAACAAATTTGTT GAATAAACTTCCATTCCTGTAGAATTAAAGCCAGATTGTTTTCACTGAGG AAAGAGTTAAAGAATAAAATGCAGAACGCACAGACCACAGATCAGCTATA GGAAGTCAGGAGGGGGCCAGGGAACAGTAGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTAAGGAGGGGCGGATTATTTGAGGCCAGGAGTTCAAGA CCAGCCTGGCCAACATGGCAAAAACTCGTCTCTACTAAAAATACAAAAAT TAGCCAGGCGTGGTGGCGTGACTCTAGTCCCAGTTACTTGGGAGGCTGAG GCACGAGAATCGCTTAAACCCAGGAGGCAGAGGTTGCAATGAGCATAGAT TGTGCCACTGCACTCCAGCTTGGGCGACAGAGTGATACTCCATCTCGAAA ATGTCAGAACAGACTAATTTGAGTAATAATAAGAAAACTCCAGTTTCCTG CACAGCCAGCTCTGTGTGGGAAAAAGAAAGAAAAAAAGAGGGGGCAGGGG AGAGAGGGAGAGAGAGAGAGAGAGAGAAAGGAAGGGAGCTAGGGAGGGAA AAAGGGAAGAAAAGAAAACAAAAGAAAGTCAGAAGGGCACATCTGTGTAG TGTTGGAGGAAAAAAGGGGAAGGAGGGAATATTCATCAAATACCTATAAA GCAGTGCTTTTGAATCTTTTTTTTTTTTTTTTGCAAACTCTGCCACCCAG ATTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGGCTGGGATTACAGGCGT CTGCCACTGCGCCCAGCTAATTTTTGTAGTTTTATTAGACAGGGTTTCAC CATCTCTTGAACTCCTGACCTCATGATTCACCTGCCTCAGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCACTTCTGAATCTTT TATGTGCAGCTACATCACCTGATTCAATAGGCCTGGGTGATGAGGCCTGA GATTCTATATATTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCTAGGCTG GAGTGCGGTGGCACAGTCTCGGCTCACTGCAAACTCCATCTCCTGGGTTC AAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGT GCCACCACACCCAGCTAAATTTTGTATTTTTAGTAGAGATGGGAGTTCAC CATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCT CAGCCTCCCAAAGTGCTGGAATTGCAGGTGTGAGCCACTGCGCCTGGCCT CTATACTTATTTTTATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	392	0.0026	-1568	c.41 others(11): Show c.4116_*5683del		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding					3485		chr15	TogoVar
TMEM132D_chr12_129066726_129909025	129088004	CTCCATGA others(1561): Show CTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTG TCCTCCATGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGG GTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACC GGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCATGA CCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTAT GACTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCC ATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCT CCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGT CCTCCCTGACTGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGT GTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGG GATGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC GGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGA CCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGATGTCCTCCA TGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTC CCTGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCC TCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGT CCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGT GTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGG TGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCG GGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCTCTATGA CCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCA TGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGGTGTCC TCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGT CCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGT GTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGG TGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCG GGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGAC CGGGGTGTCCTCTATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCT GACCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCT CTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCC TCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTC CTCCCTGACTGAGGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG02818.hp1 others(1): Show HG01106.hp1 HG01884.hp2 HG02818.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0009 a0001c0001t0001 a0001c0001t0003 a0002c0003t0009	a0001c0001t0001g0013 a0001c0001t0003g0063 a0002c0003t0009g0017 others(1): Show a0001c0001t0001g0013 a0001c0001t0003g0063 a0002c0003t0009g0017 a0002c0003t0009g0022	4	94	0.0426	-1568	c.144 others(19): Show c.1444-4870_1444-3303del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
HBA1_chr16_171680_182522	179343	AAAAAGAA others(1560): Show AAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAATATTTG ACAAGTAAAAGAAGCCGGACACCAAAGGTCACAAACTGCATGACCCCATC TATATGCAATATCCGCTACAGCCAAATCCATAGGGACCAAAAGCGGATTA GTGGCTGCCGGGGCCAGAGTTACTGTTAATGAGTACCGAGGTGGCGTTTG GGATGATGAAAAAGTTCTGACCTAGATAGTGGTGATGGCTGCATAACACT AAGTGTTCTTAATATCACCAAATTTTATACCTGAAAAATGGCTACAATGG TAATTTATGTCTATTTTATCACCTTTTTTAAAACAAAAAAGATATAAGGG GTACAGCAGAGTGAGTGCTGCATATGCATTTACTATTATTCTTGGGTTAC ATCCCAGGTACTCAATAAATGTTCACTGCCCTGAAGAAACACCTGCTACG AGTCAGGCACCTCACAGTTGTTATCCGTTTAATTCTCACAATCTGAGAAG AAACTGTCACCCTCATTTTATATAATAAATGAGAAAACAGACTCGGGCAA GTGTCACAATAGAATCAAGAGGCAGAATAAACTGACTTCCAATGCCAAAT CCATGCCGAAATTCAGTGCTATAATAATGTACATGGCCGGGCGCGGTGGT TCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGGATCACCT GAGGTCGGGAGTTTGAGATCAGCCTAACACGGTGAAACCCTGTCTCTACT AAAAATACAAAATTGGCATGGTGGCATGCACCTGTGATCCCAGTTACTCG GGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGT GAGCCGGAATGGCGCCACTGCACTCACCGCACCCGGCCAATTTTTGTGTT TTTAGTAGAGACTAAATACCATATAGTGAACACCTAAGACGGGGGGCCTT GGATCCAGGGCGATTCAGAGGGCCCCGGTCGGAGCTGTCGGAGATTGAGC GCGCGCGGTCCCGGGATCTCCGACGAGGCCCTGGACCCCCGGGCGGCGAA GCTGCGGCGCGGCGCCCCCTGGAGGCCGCGGGACCCCTGGCCGGTCCGCG CAGGCGCAGCGGGGTCGCAGGGCGCGGCGGGTTCCAGCGCGGGGATGGCG CTGTCCGCGGAGGACCGGGCGCTGGTGCGCGCCCTGTGGAAGAAGCTGGG CAGCAACGTCGGCGTCTACACGACAGAGGCCCTGGAAAGGTGCGGCAGGC TGGGCGCCCCCGCCCCCAGGGGCCCTCCCTCCCCAAGCCCCCCGGACGCG CCTCACCCACGTTCCTCTCGCAGGACCTTCCTGGCTTTCCCCGCCACGAA GACCTACTTCTCCCACCTGGACCTGAGCCCCGGCTCCTCACAAGTCAGAG CCCACGGCCAGAAGGTGGCGGACGCGCTGAGCCTCGCCGTGGAGCGCCTG GACGACCTACCCCACGCGCTGTCCGCGCTGAGCCACCTGCACGCGTGCCA GCTGCGAGTGGACCCGGCCAGCTTCCAGGTGAGCGGCTGCCGTGCTGGGC CCCTGTCCCCGGGAGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-1567	c.19 others(11): Show c.1933_*3499del		HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding					1822		chr16	TogoVar
HBQ1_chr16_175459_186179	179343	AAAAAGAA others(1560): Show AAAAAGAAATGAAGCACTGATAGGATGTAGCTGCACCCTGAAAATATTTG ACAAGTAAAAGAAGCCGGACACCAAAGGTCACAAACTGCATGACCCCATC TATATGCAATATCCGCTACAGCCAAATCCATAGGGACCAAAAGCGGATTA GTGGCTGCCGGGGCCAGAGTTACTGTTAATGAGTACCGAGGTGGCGTTTG GGATGATGAAAAAGTTCTGACCTAGATAGTGGTGATGGCTGCATAACACT AAGTGTTCTTAATATCACCAAATTTTATACCTGAAAAATGGCTACAATGG TAATTTATGTCTATTTTATCACCTTTTTTAAAACAAAAAAGATATAAGGG GTACAGCAGAGTGAGTGCTGCATATGCATTTACTATTATTCTTGGGTTAC ATCCCAGGTACTCAATAAATGTTCACTGCCCTGAAGAAACACCTGCTACG AGTCAGGCACCTCACAGTTGTTATCCGTTTAATTCTCACAATCTGAGAAG AAACTGTCACCCTCATTTTATATAATAAATGAGAAAACAGACTCGGGCAA GTGTCACAATAGAATCAAGAGGCAGAATAAACTGACTTCCAATGCCAAAT CCATGCCGAAATTCAGTGCTATAATAATGTACATGGCCGGGCGCGGTGGT TCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGGGAGGATCACCT GAGGTCGGGAGTTTGAGATCAGCCTAACACGGTGAAACCCTGTCTCTACT AAAAATACAAAATTGGCATGGTGGCATGCACCTGTGATCCCAGTTACTCG GGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGT GAGCCGGAATGGCGCCACTGCACTCACCGCACCCGGCCAATTTTTGTGTT TTTAGTAGAGACTAAATACCATATAGTGAACACCTAAGACGGGGGGCCTT GGATCCAGGGCGATTCAGAGGGCCCCGGTCGGAGCTGTCGGAGATTGAGC GCGCGCGGTCCCGGGATCTCCGACGAGGCCCTGGACCCCCGGGCGGCGAA GCTGCGGCGCGGCGCCCCCTGGAGGCCGCGGGACCCCTGGCCGGTCCGCG CAGGCGCAGCGGGGTCGCAGGGCGCGGCGGGTTCCAGCGCGGGGATGGCG CTGTCCGCGGAGGACCGGGCGCTGGTGCGCGCCCTGTGGAAGAAGCTGGG CAGCAACGTCGGCGTCTACACGACAGAGGCCCTGGAAAGGTGCGGCAGGC TGGGCGCCCCCGCCCCCAGGGGCCCTCCCTCCCCAAGCCCCCCGGACGCG CCTCACCCACGTTCCTCTCGCAGGACCTTCCTGGCTTTCCCCGCCACGAA GACCTACTTCTCCCACCTGGACCTGAGCCCCGGCTCCTCACAAGTCAGAG CCCACGGCCAGAAGGTGGCGGACGCGCTGAGCCTCGCCGTGGAGCGCCTG GACGACCTACCCCACGCGCTGTCCGCGCTGAGCCACCTGCACGCGTGCCA GCTGCGAGTGGACCCGGCCAGCTTCCAGGTGAGCGGCTGCCGTGCTGGGC CCCTGTCCCCGGGAGGGC	A A	exon_loss_variant exon_loss_variant	HIGH	HG02886.hp2 HG02886.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0004 a0000c0008t0004	a0000c0008t0004g0005 a0000c0008t0004g0005	1	384	0.0026	-1567	c.-11 others(12): Show c.-1143_300+40del		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding	1/3						chr16	TogoVar
KCNJ16_chr17_70070225_70140608	70106953	AATATCTG others(1560): Show AATATCTGCTTTAAAGTGGCTTTTTCCTGATGGTTTCTTCTACCATTGTT ACAGTAGCTGCCTCAAATCAGCCAAAGCAGAAGTTCCTATTTTGCTTGAG AGCTTAGGCTTCAGGCAAAAACTACTGACATTTATGAGATACCTAGTATT TTACAATGCTATCTGGTTAAATTCTTATAATTGTCCTTTTAAAAAGACAG AGAACACAGAGGTAAAATAACTGCTCTGAGTTCACATAGGCAAATGTTGG AGACGAGATTCAAACAGAAACTAGACTGACTCAAAAATCAAATCTAAGTG ATGAAAGTAAAGGTACTGTTTTGTTTGCATCACTTAATAATTCATCTGGA ATCACAAGTCATGATAAGAACCTAATAAGCCATATCATCAAAACCTGAGC TTGGGTCACCTTCAAGATGCAACACACCCAACATCACAGTAGATTCAGGG GCACCCTGAAACACAAGAGTAAGAAACAGAAACATCTATCCTTAGAGACT ACCCTTGTAGCCATTCTGCTGAGTTGTATTTTTTTTTCATTGTTGCTTAG AAGATCCTTGATCCAGTCTGAGTGTTTTGTTTTCTTTGAGCCCTATGCAG AATTACAGAATGAAAATGAAAACAGGTCAGCTAAAATTAAGAAGTCAATG CAATGAGCAAAGGCACAGACAGTACCAAAACATGGGTCAGGATGATCTGT CCTGTTGGCATGACAAATATGGCTCACAATTTTTTTAAAAAAAAAATTAG AAGACTCAAGTCTTTTGACTTTACTGAGAAGATGAAGTCTGACACTGTTT ATTTCCAATCTTCTTGGAAAGACTTTCACCACTGTTTATCTCATAAAATT GGAGTGCTATTTACCAGTTAATAAGAAAATGGCATAACATAAAACCTTTA AATACTAATGTTAAAAGAGAACTTCAGAGTTTTCTAGTTCAACCACCTAG CAAACTCATGAAGCTCTTCCTTAAATTCTTCAAGTTGATTATCCAAATTC AGAGTTAACACTCAGTAGATTGCTTCTGTTGTAAGGTACTAACAATAAAA ACATTCTTCATGATACAGACATTAAATCTACATCCCTGTAAAATTCATAA GCAGATTCTAGCCCCGCCCTTTGTAGCACCATAGAGCAGGGCCCCTGTCT CTACTGCATGAATACAGAGTATTCGTAACTGCATTCAAGGGTGTGAACCA ATTGCAGCCAGGGCCATGTTTTGACTATCTCAGCATACCTAGATCACAGT ACAGGGAACATAGCTGGTGTTCAATAAAAGCTTTGAATATGCGAGTATAT ATCACCTTTAATAGTTTCTTCTCTGTTTTTTCTTTTTCCTGATTTCAGAC ATCCACATTCCACCCTGGGCCTTGCCCGTCTGGTGAGCCCAATCTCTGCT GGTCAGTCACGCAGTTGAGGTCAGGGAAGGTATGTTGGGATGGGCTGACA TGAGGGGTAATGAGGGTCAAGATGAAAGTTAAGGCTAGGGACATTCTTTT GTGTGTGCATAGTTTAAAAGACAAATCAGTCATTTTGCATGTTGATATCT ATAAATGACCACATCAAC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	330	0.0030	-1567	c.-19 others(19): Show c.-191+6207_-191+7773del		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MALRD1_chr10_19043801_19739478	19296779	GAAGCAAT others(1560): Show GAAGCAATTGTTAATTATGTTATACTTGTTCTCTTTGAAAAGACATTTGT GAGAAATTAGTTTGCAGTCTTTTATGAGCACATGATGTAATTTTAGTGAA GAATCAGTTTGTTTTTGTGTTTTCATAAGGCTCTCATGATTATTACTAAT TATGTTTTCTTCCTCAGATTGGCTCATAGAAAGCTTAGAACCAAATTTTT CATATGTTGTTAGTAAGTCTGTGAAATTTCTATAATGCCTTTTGTGATCT ACTTTTATCCTTGATTCCATTTAGTGCCTCAACTCTTTTCTCTTGGTATT ATCTTTATTTATATATAAATATATATATATTTGTGTGAGTGTATCTTTTA GTTTATTATATTGTACTGTATTTCATGTGTTTTTGAGAATAAGATGAGTT TTAAGTAAACAATAAAATTAAATTTTAAAAGTATAAGCATTATTAATGAT CTCATTAGAAATATACAAGTTCTGTGAACTTTGTTTTAATTGAAATAATT ATTTACTTATAATTGTTTTCACTTTATGAACTAATTTTCTCATTCACTGT AAAATAATTTAAAACAGTTAATTCTATAATCATAAGATTAAAAGAGGGAG TATATATAGATTGGGTTTTCTTTAGGTAACTAAAAAAATATTTAGACATT TTATTAGTGGCACGACGGTAAGAGTAGTGCAGTTTGTGGAATAATAAAGT TTGGGGTAAGAGTATAGATCATCATGGCTATTTTTAAGACTTTTCTTTAT ATATATAGTTACACTTTTATAAGAATGTAGTGGCTGCATACCCTGCCTCA TAAATGTATAAACTATATTTATAGCATTATTTGTATGCCCTATGAAATAT TACTTTCGAAGGCATGTTAAAATGCAATTTTATAGCTATTTTGCATACAA GATATGAGAAATATTTTATGCAAGTAACAGGGGATGCAAAGATCTTTAAA TTTAGATTTAAAAAACTGTGTCATTTAAAACAAAGTAAGGACCCGAAAGA AGATACAAAGTATTCTATGGGAACTGAAGAGAGAGGCTTCATATCCAGAA AGGGAAAAAAAAGGCATTATGGGAAAGGTAATTTTTGAGTTGGCTGTAAA GCATTGCATAGAATTTCATCAAGCAAAGCGATGGCTACACCCAACATGGG GAAATAATAAATGATTATTTTATTATATAAAATCTTAGTGTCTAAGAGCA ACGGCTTGGGAGTTGTCTTCATCCATTTTGTGTTGCTCTAAAGGAATACC TGAGACTGAATAATATATAAATGAAACAGGTTTATTTAGCTCATGGTCTG CAGACTGCACAAGAAGCATGGTGCCCGCATCTGCTCAGTTTCTGGTGAGG AATTTGTGCTACATCAAAACATAGCAGAAAAGGCCAAAGGGGAAATGGGC ACATGGGAAGAAGGACCAAGCCTAAGAGGCTTCCTTGCTTCATAACGACC CACTAATCCCTTCCCCACAAGAATCAATCCAGTCTCCTGAGAGTGGGAAC TCACTACTGCTAGAAAAGCACAAGCCATTCATAGATAATCAGCGCCCATG ACCCAAATATCTCCTGCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	-1567	c.341 others(21): Show c.3419+13599_3419+15165del		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39						chr10	TogoVar
DLGAP2_chr8_732628_1713476	991065	AGACCCCC others(1559): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCC GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	40	0.0250	-1566	c.73+ others(17): Show c.73+83149_73+84714del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991272	ACCTTACC others(1559): Show ACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCG GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTG CCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTT CTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGA CCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCC CAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCT TGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC ACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCTCCTTGCCTGGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-1566	c.73+ others(17): Show c.73+83311_73+84876del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114084185	CTCCTCGC others(1559): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTG CTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGC GGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCC TCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTC GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	67	0.0149	-1566	c.56- others(17): Show c.56-11914_56-10349del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
ASMT_chrX_1610059_1648081	1638643	ATGATGGG others(1558): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	223	0.0045	-1565	c.910 others(17): Show c.910+2123_911-2556del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638694	ACATGAGG others(1558): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	223	0.0045	-1565	c.910 others(17): Show c.910+2148_911-2531del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(1558): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01070.hp1 others(24): Show HG00438.hp2 HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02976.hp2 HG03239.hp2 HG03669.hp2 HG03704.hp1 HG04184.hp1 NA18949.hp1 NA18951.hp1 NA18963.hp2 NA18973.hp2 NA18986.hp2 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0009c0014 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0006t0001 a0009c0014t0002 a0014c0018t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0002g0152 a0001c0001t0002g0170 a0001c0003t0001g0013 a0001c0003t0001g0038 a0001c0003t0001g0051 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0002g0149 a0002c0002t0001g0087 a0002c0002t0001g0099 a0002c0002t0001g0126 a0002c0002t0001g0220 a0002c0006t0001g0104 a0009c0014t0002g0075 a0014c0018t0001g0060	27	223	0.1211	-1565	c.910 others(17): Show c.910+2971_911-1708del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMOC2_chr6_168436184_168672992	168604311	CATGGCTA others(1558): Show CATGGCTAAACCCACTGCTGGCAAGAAAAATTGAGTTGGTTTACACTGGT TTGAATTGATCACCTAGGGAGACATGGGTACTGGGCACCAGGCAAAATAA TCAATATTAGGCAGTATCTGATAAGCCACAGCCAGCTTCACCATTCCTCA TCTCCCAGTGATTCTGCCATTATTGAGTAACCAGGTCGCATTTCTATTTA AATGCCCTCTGTTCCCTCAGCGCAATTTTCTTATTAATTTTCTGAAATAA GCAGCCCCAGGGAGATACTTCATAGTTTTGATTTATACCTGGGTTGGCAA TTAAGATGTTTGTTTTCTTTAATCATCCTCTAAATTTCCTGATGGGGAAG AAACATTTAATAATCCAGTAACAGTAAGAAGCTATAAACATAAATTGCAT CGTCTTTGATATGTGACCTCTCTTATCCTCATGTCACCATGCATGAGAAT TAAAAGGCGTTAGTTTTGTGGCAGACTCATCCCAAGGACCACAAGTACAT GCCACTCTGCCCAGATGAGGCAGGAGCAGCTTGCTCTGGTGCAGTTTCTA GTTGGACCCATCACTTAGAAGGAGATATGAGGAGGGGCAGAGGCTTCAGC CCTTCCTAGTGCCCCTGACTTTTGTGTCAAAATTGGCATCTTCGTCATTG TTTGCAGATCCCGGAAGGAGGGGTCCAGGCACCTGTCATGAGTGCAGGCC CCCATGAATGGTAGAGTCCAGGTGGGAGCCGAGGGGCAAGTTTCCCCTCA GCCACTAACAGTAGTGAGGAGAGAATGGGAAGGGGCCATCAGACTGAGCT GAGTCAGGCTGATGGCCAGATTCTGCATTCATGCCCAGAACAGAGAGGCT GATGAAGCCTTTGTCTGTCTGCCATCCAACTGCTGGCTGTTCCTACCTCA CATCTGGGCAGCCTCTGTTCCTGGACCCCAGAGCATGTCTCTCAATGAGG TGTGTAGCCTCTGTTCCCCAACCCCAGAGCGTGTCTTTCAGTGGGGTGTG CAGGGGATCATGTGGGCATAGGACTGCATTTCTCCCTGGCAGAGAACCTG GTATCTGATGGGCAATGAGAGAAGAGACGTTTGTGTTTTTCCTTATACAA ATAAGTTAAAATAAACCTATTGAAAAGAATGGTGATGGATGACAAAGCTG AAATTAACGGACTTATTTCTCCTCTTTCTCCTCTCTTGAGATTGTCAATT CTGCAAGTCATGGGCATTTCACACTACTCATTAAAACAAGCAGAATACTG TCATGTAAATATATATTTTTATATTAGCATCAGTGATAGGATTTGCAACA TACCTCTATCCCAAATGTGGAACAAAACCGAAATGCCCGTCCAGGTGGCT GGCTTCCTGATTGCTTCGAAGCTAGGAGATTTGGAATGAGGGTAAGAAAT GATCTAGTCTCGTGCCACCCATGTGAAGGATACAGGTACTGATCCTGAAG GGCTTCAGGGGCACAACAGAGTTCATGTTAACACTTCCTTTTTCTAACAC TACAGAGCAGTCCAGGGCTCTAAGGAGGTGTGCCCTCTGATACTCGGAGA AGCAAGATGGCCCCTA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	-1565	c.825 others(17): Show c.825-3844_825-2280del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
DLGAP2_chr8_732628_1713476	1399998	GAGTCGTG others(1557): Show GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGA ACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATT GAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTCC CTCCTTGTCCTCCAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-1564	c.107 others(20): Show c.107-101339_107-99776del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
SYMPK_chr19_45810410_45868147	45844410	TGCCTGTA others(1557): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTAC TAAAAATACAAGAAATTAGCCCAGGTGTGAAGGCCTGTGCCTGTAATCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGA GGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGA GTTGGACTCCATATTAAAAAAAAAAAAAATTTAGTTATAAAGATGTTCAA AGCATGGGCTTGCAATAGTGAAAGACTAGAATACATGTGTATATACACAC AACTCAAAGTCCCTTGTGACACCACTCCCCTCAATACAGTCCCCAAAATT AATGCTTAAAACTTTGGTGGATATCTTTCCAGACCTTTCCTATACAGAAA CATAACGAATGCCATATATATGTTTTTAACTTAAAAAATTTTAATGGGTA TATAGTAGGTGTAAATAATTATGGGGTACATGAGATTTTGATACAGGCAT GCAATGCATAATTATCACCATCAGGGTAAATGGGGTCTCCATCACAAGCA TTTATCCGTTTTGTTACACACAATCCAATTATACTATTTCAATTATTTTA AAATGTATGATTATTTTTTAGTATAGTTACCCTGCTGTGCTATCAAATAC TGGATCTTTTTTTTTTTCCCTGAGATGGGGTCTCACTCTGTCACCCAGAG TGGAAAGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCACCACCCAGAC TCAGGTGATCCTCTCAACTCAGCCTCCTGAGCTGCTGAGACCACAGGCAC ATGCCACCATGCTTGGCTATCAAATACTAGATCTTATTTGTTCTAACTAT TTTTTTGTACCCATTAACCATTCCCACTTCCTCCCCAACCGCCCATTACC CTTTTCAGCCTCTGGTAACCATCATTCTACCGTCTGTCTCCATGAGTTCA ATTGTTTTCATTTCTAGCTCTCACAAATAAGTGAGAACATGCAAAGTTGT CTTTCGGTGCCTGGCTTATTTCACTTAATGACTTCCACTTCCATCCATGT TGTTGCAAATGACAGGATCTCCTTCTTTTTTATGGCTGAATAGTATTCAA TTGTGTATGAGTACCACATTTTCTTTATCTATTACTCTGTTGATGAATAC TTAGTTTGCTCCGAAGTCTTGGCTATTCTGACTAGTGCTGCAATGAATAT GGAAGTGCGGGTTATCTTTTTGATACAGTGATTTCCTTTATTTCGGTTAC ATATCCAGCAGTGGGATTGCTGAATCATATGGTAGCTCAATTTTTAATTT TTTGAGGAACCTCAAAACTCCAAACAATTTTTAGGCTGTAGTAAGTGACA TTCTCACCAACAGTGTACAAGTGTTTCCCTTTCTCCACATCCTCGCCAGC ATTTGTTGTCTTTTTGATAAAAGTCACTTTAACTGGGGTGAGACATTTCA TTGTAGTTTTGACTTGAACGCCACATTATTTAAAATAGTGAATTAGGCCG GGCGCGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	392	0.0026	-1564	c.677 others(16): Show c.677-1774_677-211del		SYMPK	ENSG00000125755.19	transcript	ENST00000245934.12	protein_coding	7/26						chr19	TogoVar
TPH2_chr12_71933845_72037440	71962796	GCAACCTC others(1557): Show GCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCTA TTAGCTGGAATTACAGGCACACGCCACCATGCCTGGTTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGACCCCC TGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGCCGGGATTACA GATGTGAGCCACCGTGCCTGGCCTGAACACCTCTGCATTCCAGGCTCCAC CCTGGGTAGCAGGGATACAAAAATGAACACAGCAACAAAAATCTCTGCCT TCAAAAACTGTATATCCTAATAGGGAGACACATTTAGCAGAGTAATATTT TGAATATTTTACTTTTTGCTTTTTTGCCCCGGGCATTACTGATAATATTT TATCATAAATTTATTGAGTGTCCTTTATGGTCTGAATCCTGAAGTCTAAT TTTATCAAACGCAGGACTCCCAGACTTTTCTTATGAATTCTTGGAAGTCA GTAAATAAAAATTACATTTGCTTTACGGTTAAACCTTAATTAGAATTCAT CATCAACTCCATTTACTGTGTGTATATATATAATATATATATAGCTATAT ATATTATATATGTACTAATACTATGTATTAGTGTGTGTATATACATACAT ATATATATATATGTATGTATATACACACATATATGTACTGCCCAAGAGGC CACATGTTTTCGTTTTTAAAAAATCTGCTTAGTGGCTGGATACTTTGGCT CACACCTGTAATCCCAGCTCTTTGGGAGGCCGAGGTGGGCGGATCACGAG GTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTAC TAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAGTCCCAG CTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCAGAAG TTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGT CAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAATCTGCTTAGCAACTTCC ATTTGACATAGGTGGTATGACACACAGGTTGAAAACAAGACCAATCGAAT TAAGTGACTTGGGTTTTTAAAAAATTATTCTTCTCTTTACAGAAGTCTCA GCATATTTGAAATGCTGAGACTTCTTGTTGAAACCCAGCAAGCCTGAAAA GCAAAAAGGAGAAACCATTTCAGAGAAATTAAAGCATCAACAACTGGTGT TTATGCAGGAGTCACAAAGTACCCAAACAGCCACATATATCTCAGTTTCA TTCAAAACCTGAGAAAGCAAATCAATGGAAGATAATGGAATGGGATTTAA AAAAATGTATATATATATGCACATACATACTGATAATATTCTGGGCATAT ATATACACTTATATATATTAGTATATATATGCTTATTATATATTATATAT TAGTATATATAGCATTCTGGCAATATTCAGAAAAAATATATATATAGTTG TTTTGTTTTGAGATGGGGTCTCTGTCGTCCAGGCTGAGGTACAGTGGCAC GATCTCAGCTCACTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0002c0005t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0176 others(223): Show a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0068 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0197 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0018 a0001c0001t0004g0271 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0005g0042 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0222 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0262 a0001c0002t0001g0294 a0001c0002t0003g0028 a0001c0002t0003g0058 a0001c0002t0005g0029 a0001c0002t0007g0212 a0001c0003t0001g0014 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0097 a0001c0003t0001g0108 a0001c0003t0001g0128 a0001c0003t0001g0136 a0001c0003t0001g0146 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0199 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0293 a0001c0003t0001g0303 a0001c0003t0002g0104 a0001c0003t0002g0143 a0001c0004t0001g0198 a0001c0004t0001g0249 a0001c0004t0001g0265 a0001c0004t0001g0270 a0001c0004t0001g0273 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0295 a0001c0004t0001g0300 a0001c0004t0001g0311 a0001c0004t0002g0274 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 a0001c0004t0003g0059 a0002c0005t0001g0011 a0002c0005t0001g0131 a0002c0005t0001g0133 a0004c0007t0001g0091 a0004c0007t0001g0092 a0005c0008t0001g0073	237	334	0.7096	-1564	c.609 others(17): Show c.609-9681_609-8118del		TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(1556): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTC CCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCC CCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTC TCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCC TCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0083 a0001c0001t0054g0083	1	106	0.0094	-1563	c.136 others(19): Show c.1362-3427_1362-1865del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
KAT14_chr20_18132863_18193035	18170776	GTCCGCCC others(1556): Show GTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGTGCCCGGCCTGAAAAAGATTATTTTCAAACAATTACTGCTCATTGACA ATGTACCTGGTCACCCAAGAGTTCTGATTGAGAGGTTTAAGATTAGTATT ATTTTCATGCCTGCTAAAACAACATCTATTCTGTAACCCATGGATCAAGG AGTAATTTTGACTTTCAAGTCTTACCATTTAAGACTCTTTTTAAGGCTAT TGCTATCATAGATAGTGATTCCTCTGATAGATCTGGGCAAAGACATTGAA AACCTTCTGGAAAAGGAGTCATCATTCTAGATGCCATTAAGAACATTTGT GATTCATGGGAGGAATCAAAATTTCAACATTTACAGGAGTTTGGAAGAAG TTGATTCCAAGCCTCATGGATGACTTTTGAGGGGTTCAAGACTTCAGTGG AAGAAGTCACTGTGGATGTGGAAAGAGCAAGAGAACTAGAATTAGAAGTG GAGCCTGAAGATGTGACCGATAAATGTCATGATAAAACTTGAATGAATAA GTGTTGCTTCTTATGGATGAGCAAAGAAAGTGGTTTTTTGAGATGCTATC TACTCCTGCTAAAGATGCTATGAACATTGTTGAAATCTCACAACAAAAGA TTTAGAATATTGCATAAACTTAGTTGATAAGTTAGTGGCACAGTTTGACT CAGATTTTGAAAGAAGTTATGTTGTGGGTGAAATGCTGTCAAACAGCATC ACATGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ACATAGTGAAACCCTGTCTTTACTGAAAATACAAAAATTAGCCAGGCGTG GTGGTGTACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCTGGGAGGTGGAGGTCTCAGTTAGCTGAGATCATACCCCTG CACTGTAGCCTAGGCAACAGGGCAAGACTCTGTCTCAAAAAAACCAATAT CTTTTGTGAAAGGAAGAGCAGGTCAATGTGGCATGCTTCAGTGTTGTCTT ATTTTAAGAAATTGCCCCAGCCATCCCAACCTTCAGCAGCCACCACCACC CTGATCAGTTGGCAACCATCAATATTGAGGCAAGAGCCTCTACCAATAAA ATGATTGACTCACTGAAGGCTCAGATGATCATTGGCATTTTTTAACAATA AAGTGTTTAAAATTAAGTCACACATTTTTTTCTTAGACATAATGCTGTTA TTGCACACAACAACAATATAGTGTCAACTTTTTTTTTTTTATTTGAGACA GAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTT ACTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCC CGAGTAGCTGGGACTAAAGGTGCGTGCCACCACGCCCAGCTAATTTTTGT ATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTTGAAC TCCTGACCTCGTGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	346	0.0029	-1563	c.166 others(19): Show c.1668+7862_1669-9341del		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393006	AGGTGGTC others(1556): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0322 a0001c0001t0180g0322	1	346	0.0029	-1563	c.181 others(21): Show c.1811-14266_1811-12704del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
EXOC2_chr6_480154_698139	594969	TTAATTAT others(1555): Show TTAATTATGATTAACACAGGCTCAGTATTTTAAAATTTAAGAATAAAGGA AGTTTTTAGTCATATTCTGACATGATCTTCTCACAGCTACCAGGGATAAG ATCACACTGCTGTGGAAAGGAATATGCAGAGCTTTGCTTCCTGCCAACAT CAAGATAGAAATAAGGAGAGGGAGAAGAATAGGGAAGGTTTAAATTAGAT AAAATAGTGAATGATATTAGAAAAAATTGTGAACAGTAAGACAATATAGT GGTAATCTGATTTTCCCCTCTACTATGCATAATCTGGATTATGTAAGAAA ACTAATACATTTTTGTTCATGATAAAGCTATCTCTATTCCTACTTGATGC TCATAAATTTCAAAGTCCAACAGGTATTTGACCTGGTTCTGATCTTATTT TTCTATTTCTTAGCGACTAAAAATTTCATTTAAAAAGGTAACAATTGCTC AGTATTTTCTCAAAGCATCGTAAATAAAATAATCATTAACAAATACATAA ACTATTGTTGACTTGTTTATATTTTTGCTCTTTTGCCTTTAAGATGACAG GAAAAATCGTAGTTAAAAGGCTCCTTAAAAGAATCTTTTTTGGCACTACC ACCTTTTAAACGATATCCAGTAAGTTATATACTCATAAAAACTGCACATG AGTTATCCATATAGATGGTAACCCACAACATAAAGAATTTGTACACTCAA CAAGATTTAACACACTACTATAGGCAAGTTTAACATAACAAGTGTAAACA GGCCAGAAATATACAAAGCACACGCAGTGAAGGAGCAGGGCAGGAAACAG CAGCCTCAGGACGTCTGAGGCTACCCAGCTGCGTGTCCTGGACACTACGC TCAACCTCCCTGCAACTCTGTCGCTTTCTAGGTAGAAAATAAAGCAGTTG GATGACAAATGTGTGGTTTATTTCCAGCTTTACATTTCTAGGATTCTACA AACCAGGAAAATCCCCTATATACATTCTTTCTTATGGAGGCAGCTTAGAG AGAAACAAGAGTGGGCTCTGAAGCCAAACAGGCGTCCCGTCCCCCGGGTC ACTGTGTGTGCTGGGCAAGCTTCCGTGTTTTCACCTGTACAATGGGCACC GCACAAGCGTCCTTTCATGGTGGTGATCAGGATTAGAGAGGACATGTAGA ACACATCCCGCACAGCGCCTGAGCATGCTGCACACGTGCAGGGGTGGCAG CATGCAAACACAGCACCCTCTCTTCATCCCACCGCCACTGCCTCTGCTTG CTTCCTCCTGGGCAATACTAGTGTGCTGCCAATGACGACGGCTCATACTC CCGCCGTACGCCTCATCACTAGGACACAGGTCCAGGTGCGGATCTTTTCC CCCGTTCACACTTGCACACACAGCAGCTTTCAGGCCAGACGCTCTTTTCA AGACAGTCTTTTCTTTTCAGAGACAGGATCTTGCTGTCACCCAGGCTCGA GTGCAGTGGTACGATCACATCTCAGTGCAGTCTCGAACTCCTGGGCTCAA GAGATCCTACTGCCTCAGGCTCCTGAGTGGCTGGGTCTACAGGCATGCAT CCCCGCATCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 NA19043.hp1 HG02486.hp2 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0013 a0001c0011t0008 a0001c0008t0013 a0001c0011t0008	a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0011t0008g0154	3	272	0.0110	-1562	c.107 others(19): Show c.1073+1490_1074-2383del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	10/27						chr6	TogoVar

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