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

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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
INTS4_chr11_77873720_77999668	77896921	CAGAAAGA others(703): Show CAGAAAGAAAATTTTAAAGGTTTGAGCATGAAAAATAAGCTGTAGGGAAG AGAACCAGACTGACATAAAACATTCAACTGTAACATTAAATACTAAAAGG GAACATAGCAGAGGCAGAGAGTCTCTATGAACCTATTCTGGTGTGGCGGG GGTTGCCCAATAAAATAAATAAATAAAGGCACCATAGCAATATGGAAATA ATTGGAAAAGAATTCCATTTATGTATGAGAGCAAAGGAATTTAAAAGGCG ACAGAGAACAGTGGTGGCAAAGTTGGAGCTAAACTTATAAAGATTATAAG TGGTGGCTCACGTCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGAAGG ACACTTTGAGTTCAGGAGTTCAAGACTGGCCTGGACAACGCAGTGAAACC ATGTTTCTATTATTTTTAAAAATAAAAAATATTTTATAAAAAAATTAAAA ATAAAAATAAAGAAGGATATACAAGGATTATGTACTTATAACTTTAAAAG ATTATATTTATAAACATAAAAATTAATAGAAGCTACATTATAAAAACATA ATCAGCTGAAACAAACCTCCAAGTTATTATTATTATTATTTTTTTTTTGA GACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGGATCTCA GCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCGAGTAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	362	0.0028	-710	c.222 others(19): Show c.2229-3282_2229-2573del		INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	18/22						chr11	TogoVar
LPP_chr3_188149157_188895671	188784340	CATATATA others(703): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATATTCCATCATATATATATTCCATCATATATATATTCCATCATA TATATATATTCCATCATATATATATATTCCATCATATATATATATTCCAT CATATATATATATTCCATCATATATATATTCCATCATATATATATATTCC ATCATATATATATATTCCATCATATATATATATTTCCATCATATATATAT TCCATCATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATTCCATCATCATATATA TATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0021 a0002c0007t0021	a0002c0007t0021g0063 a0002c0007t0021g0063	1	76	0.0132	-710	c.141 others(21): Show c.1410+24069_1410+24778del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188784430	CATATATA others(703): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATTCCATCATATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATTCCATCATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATTCCATCATATA TATATATTCCATCATATATATATATTCCATCATATATATATATTTCCATC ATATATATATTCCATCATATATATATTCCATCATATATATATATTCCATC ATATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATTCCATC ATCATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0033 a0002c0004t0033	a0002c0004t0033g0062 a0002c0004t0033g0062	1	76	0.0132	-710	c.141 others(21): Show c.1410+24159_1410+24868del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LUC7L_chr16_183990_234449	186458	GGGGAACA others(703): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	350	0.0029	-710	c.20 others(11): Show c.2030_*2739del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2531		chr16	TogoVar
LUC7L_chr16_183990_234449	186475	GGGGAACA others(703): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	350	0.0029	-710	c.20 others(11): Show c.2013_*2722del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2514		chr16	TogoVar
OR3A1_chr17_3286017_3303360	3286324	ATTTGGCT others(703): Show ATTTGGCTTGGTTCCAAGTCTTTGATATTGTGAACAGTGCTACAATAAAC ATACATGTGCATGTGTCTTTATAGTAGAATGATTTATATTCCTTTGGGTA TATACTCAGTAAGGGGATTGGTGGGTCAAATGGTATTTCTAGTTCTAGAT CCTTGAGGAATCGCCACACTGTCTTCCACAATAGTTGAATTAGTTTACAC TCCCACCAACAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCA TCTATTGTTTCCTGTTGTTTCCTGACTTTTTAATGATAGCCATTCTAACT GGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGAC CAGTGATGACGAGATTTTTTTCATGTTTGTTGGCTGCATAAATGTCTTCT TTTGAGAAGTGTCTGTTCATATCCTTCGCTCACTTTTTGATGGGGTTGTT TTTTCTTGTAAATTTGTTTAAGTTCTTTGTAGATTCTGGATATTAGCTCT TTGTCAGATGGATAGATTGCAAAAATTTTCTCCCATTCCGTAGGTTGCCT GTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTCATTAGA TCCCATTTGTCAGTTTCGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGA CATGAAGTCCATGCCCATGCCTATGTCCTGAATGGTATTGCCTAGATTTT CTTCTAGGGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	-710	c.46 others(11): Show c.4601_*5310del		OR3A1	ENSG00000180090.6	transcript	ENST00000323404.2	protein_coding					4692		chr17	TogoVar
OR3A2_chr17_3271177_3391308	3286324	ATTTGGCT others(703): Show ATTTGGCTTGGTTCCAAGTCTTTGATATTGTGAACAGTGCTACAATAAAC ATACATGTGCATGTGTCTTTATAGTAGAATGATTTATATTCCTTTGGGTA TATACTCAGTAAGGGGATTGGTGGGTCAAATGGTATTTCTAGTTCTAGAT CCTTGAGGAATCGCCACACTGTCTTCCACAATAGTTGAATTAGTTTACAC TCCCACCAACAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCA TCTATTGTTTCCTGTTGTTTCCTGACTTTTTAATGATAGCCATTCTAACT GGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGAC CAGTGATGACGAGATTTTTTTCATGTTTGTTGGCTGCATAAATGTCTTCT TTTGAGAAGTGTCTGTTCATATCCTTCGCTCACTTTTTGATGGGGTTGTT TTTTCTTGTAAATTTGTTTAAGTTCTTTGTAGATTCTGGATATTAGCTCT TTGTCAGATGGATAGATTGCAAAAATTTTCTCCCATTCCGTAGGTTGCCT GTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTCATTAGA TCCCATTTGTCAGTTTCGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGA CATGAAGTCCATGCCCATGCCTATGTCCTGAATGGTATTGCCTAGATTTT CTTCTAGGGTT	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	318	0.0031	-710	c.-27 others(19): Show c.-278-2483_-278-1774del		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
RC3H2_chr9_122839556_122910359	122867212	ACCCCGTC others(703): Show ACCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAG TGAGGAGACCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGGGAGGTTGGG GGGTCAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGTGAGGGGCGCC TCTGCCCGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCT GCCCAGTCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCATCCCATCTAGG AAGTGAGGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGATGTGGGGAGC GCCTTTGCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGC CGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCT GAGAAGGGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCTCC GCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCAGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02723.hp1 HG02735.hp2 others(1): Show HG02135.hp2 HG02723.hp1 HG02735.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0006t0015 a0001c0001t0001 a0001c0002t0002 a0001c0006t0015	a0001c0001t0001g0027 a0001c0001t0001g0259 a0001c0002t0002g0060 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0259 a0001c0002t0002g0060 a0001c0006t0015g0010	4	320	0.0125	-710	c.132 others(19): Show c.1326-2265_1326-1556del		RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20						chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1070807	GGCATCAC others(703): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAG CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAG CACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0086 a0002c0026t0004g0086	1	118	0.0085	-710	c.224 others(19): Show c.2241+2116_2241+2825del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
UGT1A10_chr2_233631448_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	302	0.0033	-710	c.856 others(17): Show c.856-4603_856-3894del		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	412	0.0024	-710	c.864 others(17): Show c.864+1280_864+1989del		UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0131 a0002c0002t0006g0131	1	350	0.0029	-710	c.868 others(17): Show c.868-4603_868-3894del		UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0004 a0001c0019t0004	a0001c0019t0004g0018 a0001c0019t0004g0018	1	332	0.0030	-710	c.868 others(17): Show c.868-4603_868-3894del		UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	330	0.0030	-710	c.868 others(17): Show c.868-4603_868-3894del		UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0004 a0010c0014t0004	a0010c0014t0004g0120 a0010c0014t0004g0120	1	332	0.0030	-710	c.862 others(17): Show c.862-4603_862-3894del		UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0177 a0003c0004t0004g0177	1	320	0.0031	-710	c.856 others(17): Show c.856-4603_856-3894del		UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	290	0.0035	-710	c.856 others(17): Show c.856-4603_856-3894del		UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233762426	GTAACAGT others(703): Show GTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCAC TCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGG TACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCAC AGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAA ACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTT CTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTT TTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGC TGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATA ATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTC TCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCT CTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTG CTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGC CATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCG TGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGC ATTTATTGATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	318	0.0031	-710	c.856 others(17): Show c.856-4603_856-3894del		UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZFPM1_chr16_88448280_88542031	88501089	CCCGCAGG others(703): Show CCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCGGGGGCCA TCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCC CTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGC TCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGTGCGGGGG CCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGG CCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGG CCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCGGGG GCCATCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTGCGTG GGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTGCGT GGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCA TGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGTGC GTGGGCCATCGCGCAGGTGCTGGTGATGATAGAGATAGCGGGTGTGGGTG CAGGGCCTCTCCCGCAGGTGCTCTTGATGATGGAGGTAACGGGTGTGGGT GCCGGGCCCTCCCGCTGGTGCTGATGATAATGGAGATAGCGGGCATGGGT GCAGGGCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02145.hp2 others(6): Show HG01192.hp2 HG02055.hp2 HG02145.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp1	a0000 a0001 a0005 others(3): Show a0000 a0001 a0005 a0008 a0010 a0016	a0000c0065 a0001c0001 a0001c0013 others(4): Show a0000c0065 a0001c0001 a0001c0013 a0005c0007 a0008c0064 a0010c0020 a0016c0066	a0000c0065t0009 a0001c0001t0001 a0001c0001t0004 others(6): Show a0000c0065t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0013t0059 a0005c0007t0009 a0008c0064t0002 a0010c0020t0015 a0016c0066t0009	a0000c0065t0009g0229 a0001c0001t0001g0131 a0001c0001t0004g0174 others(6): Show a0000c0065t0009g0229 a0001c0001t0001g0131 a0001c0001t0004g0174 a0001c0001t0028g0309 a0001c0013t0059g0239 a0005c0007t0009g0282 a0008c0064t0002g0291 a0010c0020t0015g0252 a0016c0066t0009g0176	9	318	0.0283	-710	c.268 others(19): Show c.268+11941_269-12584del		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(702): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02717.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02717.hp2 HG02976.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0019 others(1): Show a0001c0001 a0001c0014 a0001c0019 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 others(1): Show a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 others(3): Show a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 a0001c0019t0003g0145 a0001c0029t0003g0107	6	183	0.0328	-709	c.107 others(21): Show c.1078-20380_1078-19672del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
IDI1_chr10_1034419_1054119	1046861	CTGTCTAC others(702): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02738.hp1 HG00280.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	438	0.0046	-709	c.140 others(17): Show c.140+1294_140+2002del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
IL3RA_chrX_1331785_1387689	1366362	GGGGTGCG others(702): Show GGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTG CGCGGGGTGAGCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGG GGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGC GGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGT GCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTG CGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGG GGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGA GCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCG CGGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGG TGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGC GGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	115	0.0087	-709	c.874 others(17): Show c.874+1128_874+1836del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
NDUFAF2_chr5_60940205_61158026	60961610	AAAAAAAT others(702): Show AAAAAAATTAGCCAGACATGGTGGCAAATGCCTGTAATTCCAGCTACTCA GGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGT GAGCCGAGATTGTGCCACCACACTCTAGCCTGGGCAACAGAAGGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAATTTACTATGTAATTGCAACCTTAGC TAATTATTAGAATTAAGAATGAATCAGTATCTGTGGTCCTACTTAGGAAG CTTTGGTAGCAGGATCGCTTGAGCTCAGGAGTTTGAGGTTACAGTTAACT ATGATTGCATCACTGCACTCCAGCCTGAGTGACACAGCAAGACTCTTTCT CTAAAAAAAAAAAAATCTTAAAAAAGAATGAATTAAGTACTATTTTTTCC TCCAGCTTTATTGAAGTTCAATTTATAAATACAAATTGTATATATTTATA TTGTTGAGTATGCTTGAACACCATAAATATATGTATACATTGATATATAC TTCGTGATTACCACAATCAAGCTTAGGCAACATATCTTTCACCTCACATA GTTATCTTGGTTTTTTTTTTTTGTAGTGAACAAGTACTGATTTTTTTAAC ATAGGTTTTCTGACAAAACTATGATAGCACAATATGACATTCTTCTTTTC ACATTTGTCTCCATGGAATTAACAAAAGTGACTTTTTTTGCAAAAGTTGA AAGCATCATC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0197	1	266	0.0038	-709	c.127 others(19): Show c.127+16231_127+16939del		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEU4_chr2_241804193_241822413	241805638	TCCCCCCT others(702): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGG GACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCC ACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	-709	c.-36 others(11): Show c.-3639_-2931del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3554		chr2	TogoVar
SLC5A5_chr19_17866945_17900174	17884328	CGCTCTGT others(702): Show CGCTCTGTGGTCCAGGCTGGAATGCAGGGGTGCAATCTCAGCTTACTGCA GCTTCAACCTCTCAGGCTCAAGCAATCCTCCCAGCTTGAGGGAGGCCCAG AATTTGGTTTGGTTCTATTTTTTATTGAGATAAATTAGCCATTTAAAAGT GGCATTTAGGCCAGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAG CTTGATCAACATGGGGAAACCCCCGTCTCTACTAAAAATACAAAACTTAG CCAAGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGA CAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATC GCACCACTGTATTCCAGCCTGGGCAACAAAAATGAAACTCCAACTCAAAT AAATAAATTAAAGTGGCATTTAGTATATTTGTGCAACCATCACCACTATC TAAGTCAAGAACGTTTCCTCTTTTTTTTTTCTAATTTTGTATTTTTAGTA CAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTC AGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGA GCCACTGTGCCTGGCCCCAAAAACATTTTCTATTTTTTTTTTTTTTTGGA GCAGGGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0073 a0001c0002t0008g0074 a0001c0002t0008g0073 a0001c0002t0008g0074	2	414	0.0048	-709	c.152 others(17): Show c.1526+290_1526+998del		SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
TNK2_chr3_195858364_195913551	195874580	CCCCCTCG others(702): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGC ACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACACTC CGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGC ACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAG AAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTC CCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTC GGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGAT GGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCC CACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCA CGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTC CGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGC ACACGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0019 a0001c0040t0001g0019	1	372	0.0027	-709	c.125 others(19): Show c.1257-2819_1257-2111del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
CHMP3_chr2_86498430_86568443	86549117	CGGCCGGG others(701): Show CGGCCGGGAAGAGGCGCCCCTCACGTCCCAGACGGGGCGGCCGGGCAGAG GCGCCCACTTCCCAGACTGGGCAGCCGGGCAGAGGCGCTCCTCGCCTCCC AGACAGGGCGGCCGGGCAGAGGCGCTCCTCGCCTCCCAGACGGGGCGGCA GGGCAGAGGCGCTCCTCGCCTCCCAGACGGGGCGGCCGGGCAGAGGCATT TCTCACTTCCCAGATGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCC AGATGGGGTGGCGGCTGGGCAGAGGCACTCCTCCCTTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCTCAGTTCCCAGATGGGGTGGCCGGGCAGAGGC GCTCCTCACTTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCC CAGACAGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGTTGC AGTCAGGCAGAGACGCCCCTCCCCTCCCAGAAGGGTCGGCCGGGAAGAGG CACTCCTCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCCCCTCACTTC CCAGATGGGGTGGCGGCCGGGCAGAGACGCCCCTCACCTCCCAGATGGGG CGGCCGGGCAGAGGCACCCACTTCGCAGACGGGGCGGCCAGGCAGAGGCG CTCCTCGCCTCCCAGACGGGGCGGCCGGGCAGAGGTGCTCCTCGCCTCCC AGGCGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp2 NA18986.hp2 others(1): Show HG02056.hp1 HG02080.hp2 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 others(1): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0005g0100	4	336	0.0119	-708	c.46- others(15): Show c.46-7513_46-6806del		CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5						chr2	TogoVar
DLGAP2_chr8_732628_1713476	1013597	GCGCCTCC others(701): Show GCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGG ACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGA CAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTG TATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGA CCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCT CCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAG GACAGACGA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-708	c.73+ others(19): Show c.73+105824_73+106531del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
HRNR_chr1_152207076_152229193	152215548	CGATGACT others(701): Show CGATGACTGTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGGAATGAC CTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGAC TCTCGGTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCC ACGGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCCGTAGCTGGAAG ACTGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGG CCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGA CCCATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTTGTT CACCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAG GAGTGACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGA GCTAGACTCATGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCAT GTCGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAG CTGGAAGAGTGCCCGGAACCGGACCCATGTCGGCCGCGACTAGGAGACTG GCCAGATCCAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAG AGCCATGCTGACCGTGGCTGGAAGACTGACCTGTGCTAGATCCCTCCTGG TCAAAGGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show HG00438.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0013t0005g0018 a0001c0013t0005g0182	4	418	0.0096	-708	c.537 others(9): Show c.5373_6080del	p.Thr others(15): Show p.Thr1792_Ser2027del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6156/9629	5373/8553	1791/2850			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852167	ATCCTCTC others(701): Show ATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGAT CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCT CCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCAT GGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTC CATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCCC CACCCCCTGGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCAGA TCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCC CGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGT CCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCC CCTCTTCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02976.hp2 others(7): Show HG01891.hp2 HG02451.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0026 a0001c0001 a0007c0026	a0001c0001t0001 a0007c0026t0001 a0001c0001t0001 a0007c0026t0001	a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 others(7): Show a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0007c0026t0001g0146	10	356	0.0281	-708	c.645 others(17): Show c.645+1513_646-1406del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
AGPAT4_chr6_161124967_161279061	161145000	AGTAACAT others(700): Show AGTAACATTTTATATGCTGCCTCAATGCTTAGACCAGAAAACAGAGCAAG AAAAATACTGCCTCATGCATGAAAACAGAAGGGGGAAATTCATATGGTTT TCTGTTTCTCTGTCGGGGCACATATGTGCATCGGTGCAGAACCTCGATAA CTTAGAATCTTGTTGTTAAAAAGCTTCAGGCCTCAGACCATCTCCATCAA AGCCATCTGCATCAGAAGCAGTTTGCTGGAAGTACACATTTCTAGGTTCT ACCTCTAACCTGCAGAGACAGAATCACTGGGGTTCGGGCCTGGGAATCTG CACAACTCATGCTCTAATGACAAGGTAAATGAGTCCATACATACAATTTG TAATTTGTGTATTTGTAAGGGGATACCAGAGAGCAATGCCCATAACCTAC ATAGGAAAGAGGCCCACATGCCAGCTCTGTGCAGTGATGGTATAAAGGCA TCATCAGGGAAAAAAGGTATCAGGATCTTGATTCCAAAAACTGAGCAAAC TTACAAGAGCTTCTCTGCTAAAGGTGATGGCAAGTCTTTTGGACTGAAAT TTGTCTAAAGGAGGCAAATTTAGCTTATCCATCATACTAGAGTCTGTTAA GAGTCTTGTGGACTAAAATCCTAACACATTCCCAAGTGTAGGTAGGGTTA AAGTTCTTATTCAGCTGCAGAGGACATCCTGCAAAGCTCTGGGTAATTCT CTCCTTTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0030 a0001c0001t0055g0030	1	264	0.0038	-707	c.843 others(16): Show c.843+817_843+1523del		AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	7/8						chr6	TogoVar
BRSK2_chr11_1384934_1467689	1429530	CCAGCAGT others(700): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	360	0.0028	-707	c.92- others(15): Show c.92-6416_92-5710del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXQ1_chr6_1307098_1319758	1319051	CAAAATTA others(700): Show CAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGA CCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCA TGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGG ATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACC CCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGA AGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAA TACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCC TGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGG GCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG TGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAA ACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACG CCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(48): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01168.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02717.hp2 HG02723.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 NA18612.hp1 NA18747.hp2 NA18959.hp1 NA18965.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0002c0026 a0004c0003 others(2): Show a0002c0004 a0002c0026 a0004c0003 a0004c0013 a0005c0011	a0002c0004t0001 a0002c0026t0001 a0004c0003t0001 others(3): Show a0002c0004t0001 a0002c0026t0001 a0004c0003t0001 a0004c0003t0005 a0004c0013t0001 a0005c0011t0001	a0002c0004t0001g0000 a0002c0026t0001g0000 a0004c0003t0001g0000 others(3): Show a0002c0004t0001g0000 a0002c0026t0001g0000 a0004c0003t0001g0000 a0004c0003t0005g0000 a0004c0013t0001g0000 a0005c0011t0001g0000	51	406	0.1256	-707	c.51 others(11): Show c.5136_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4294		chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150749811	TGCCTGTA others(700): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGATCACGAGGT CAGGAGTTCGAGAACAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTA AAAAGACAAAAATGAGCCGGGCATGGTGGCAGGTACCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCTGAGGTT GCAGTAAGCTGAGATCATGCCGCTGCACTCCAGCCTGGGTGACAGAGCAA GACTCTGTCTCAAAAAAAAAAGAAAATATCTACTAGAAGAACATTTTTAC TTCAAAAGGAGGAATAAAGAAAATATTATAATGTCTTTTGTGAGAAATAC ACAATTAACTGCATCAGTTATATTAATACCAAGGATAGGAAGCCTACATA CACCGGTTTAGAGGGGCTATTACTTAAGCGACTAAAGGCTATTGCCTAAG AAATCTGGTTAGGAGGAACAGCTGAAAACTAGGAATCTTTCTAAAGCCGA GGTTGCACATGGGAGTCACCTGGGGAGCTTGTACAATTCCCTCCACCTAA GCTGCACCCTGGGCTAGCGAAATCCCAGTCTCTGGGGCCGGGGTCCGTTT TCCTTGAAGTTCTGCAGATTCCAGTAGACGATCAGTGTTGAGATTTAGTA CCCTAACAGGAATGTTTTTTTAATAAAGCAAACAAACTTTTAAAGGCGGC ACACTCAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0192 a0001c0004t0001g0192	1	272	0.0037	-707	c.411 others(19): Show c.411+15748_411+16454del		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK9_chr13_98788429_98983064	98978841	GGATCACC others(699): Show GGATCACCAACCTACGGTTCAATGGTGGTTTAGTAGCACCCAAAATATGT GTTCCTAAAAGTCTGTATTTTTATTATTTCCTCACATTTAACAGTGGAGT CTTTTTTACCTCTTGGGAAAAATTAAAACAGAGGTATTAAGGGATTTGTC TAAAAGTTATGTAGAAATGAACATTAAAGGGGGGATCAAATATTACTCTG TACTTCATGGATACCGCAGAGCTTTTCCTAGTTACTCTGAGTATTTCCTG GACATCAGGGAAGATTTAGTAACAGTAGACAACAAGCAGCAGCAGCAGCA GCAGCCGTAGCAGTAGCAGTAACAGCAGTAGCAGCAGCAATAGTAGTAGT AGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGCAGCAGCGG CGGCAGCAGCAGCAGCAGTATTCAGTCAGTCAACAACGAGAGTAGTTATC ATGTAGCAACAATAGGTGCCAGAGGAACTCTACCCAGGGAAATAACATAA ACTATTATACAAGTCACAGGTAAAAGTCTCCCACTTTCCAGACAAAGGAA CGCAGCCAGGAGGGCTCAGAGGAGGCAGTGGGGAGAACTGAGATGCCACC CAGTCCTCGCACAGCCGCCTCCCTCTCCTAGCACCTGCTGCAGCTGCTCT ACTTCAAGAGTGAAGCTGAAGCTGGGTCTCTGCCACTTGAACACCAGGAA CCCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18967.hp1 NA18989.hp2 others(4): Show NA18963.hp2 NA18967.hp1 NA18989.hp2 NA19009.hp2 NA19010.hp1 NA19072.hp2 NA19076.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0004c0032 a0001c0003 a0001c0004 a0004c0032	a0001c0003t0002 a0001c0004t0002 a0004c0032t0002 a0001c0003t0002 a0001c0004t0002 a0004c0032t0002	a0001c0003t0002g0105 a0001c0003t0002g0108 a0001c0003t0002g0114 others(4): Show a0001c0003t0002g0105 a0001c0003t0002g0108 a0001c0003t0002g0114 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0004t0002g0113 a0004c0032t0002g0115	7	348	0.0201	-706	c.-16 others(10): Show c.-1638_-933del		DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding					778		chr13	TogoVar
DPH7_chr9_137549444_137583925	137565366	TCTGTCTG others(699): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	340	0.0029	-706	c.641 others(15): Show c.641-918_641-213del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565660	ACTCTGTC others(699): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	340	0.0029	-706	c.641 others(16): Show c.641-1212_641-507del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567042	GGGGTGAC others(699): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0012 a0001c0001t0001g0058	2	340	0.0059	-706	c.641 others(17): Show c.641-2594_641-1889del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GTF2H5_chr6_158163350_158204344	158200345	GCTGGGAT others(699): Show GCTGGGATTACAGGCGTGAGGCACCACGCCCAGCCTCAAAAAAAATTTTA AAAGCTAATGACAATCTTCACTTTTTTAAAGAATATAAAAAGAGTTTTGG CTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CAGGCAGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTGACACGGCG AAACCCCGTCTCTACTAAAAATACAAAAAACTAGCCGGGCGTGGTGGCGG GCACCTGTAGTCTCAGCTACTTGGGAGGCTGAGATAGGAGAATGGCATGA ACCCGGGAGGCAGAGCTTGCAGTATGCAGAGATCACGCCACTGCACTCCA ACCCGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAGA GTTCTACTCCCTATCCCAATGAGATCACACTGCTTTGACACTTGCCTTTT CCCTTAATTTTTCATGCTCCTTTATGAAAAACCTGAAGCAGGATTTCTAT TTCAGAGGAAAGTTTTTTTTTCTGATTTTAGATGGGGAGCTTTCTAAAAA TGTTGATGCCTGGCCTCAGCCCCCAGTCATTCAAATTTAGTTGTTCTGGG ATATGACCCAAGCGTCAGCATCTTTAAAAGGCCTGCCTGGTGCTTCTGCT GTGCATTCAGAGCTGAGAACTCCTGGGCCGGTGTGTGCACAATGGAGACT CTGGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02109.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0044 a0001c0001t0040g0045 a0001c0001t0040g0044 a0001c0001t0040g0045	2	384	0.0052	-706	c.81 others(11): Show c.8189_*8894del		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding					1002		chr6	TogoVar
MYO1G_chr7_44957662_44984015	44961033	AAGGGGCT others(699): Show AAGGGGCTGAGGGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGGGGCTGA AGGAGGCTGAGAGATGAGAGGCTGAGAGCTGAGGGGCTGAGGGGGCTGAG AGGGCTGAGGGGCTGAGGGGGCTGAGAGGGCTGAGAGGGCTGAGAGGGCT GAGGCGCTGAGGGGTTGAGGGGGCTGAGGGCTGGGGGGCTGAGGGCTGAG GGGGGTAAGGGCTGAGGGCTGAGGGAGCTGAGGGTTGAGGGGCTGAGGGG GCTGAGAGGGCTGAGGGGCTGAGTGGTTGAGGGGGTTGAGGGGGCTGGGG GCTGGGGGGCTGAGGGCTGAGGGGGGTAAGGGCTGAGGAGGGAGCTGAGG GGGCTGAGGGGATGAGGGGTTGAGGGGACTGAGGACTGAGGGGCTGAGGG TTTGAGGGGGCTGAGCACTGAGGGGGTTGAGGGGGCTGGGGGCTGAGGGC TGAGGGGGTTAAGGGCTGAGGGCTGAGGGGCTGAGGGGGCTGAGAGGGCT GAGGGGCTGAGTGGTTGAGGGGGTTGAGGGGGCTGGGGGTCGGGGGGCTG AGGGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGGGCTGAGGGGCTGAGG GCCTGAGGGACTGAGGGCTGAGGGCTGAGGGGCTGAGGAGGCTGAGGGGG CTGAGGGCTGAGGGGTTGAGGGAGCTGAGGGCTGAGGAGCTGAGGGGTTG AAGGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01257.hp2 others(7): Show HG00642.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 NA18987.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	10	378	0.0265	-706	c.10 others(11): Show c.1000_*1705del		MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding					1628		chr7	TogoVar
RPL26_chr17_8372516_8388193	8375566	CACTTTGT others(699): Show CACTTTGTCACCCAGGCTAGAGTACAGTGGCATGATCACGGCTCCCAGGG TCAAGGCATCCTCCTACCGCAGCCTCCCAAGTAGCTGGGACTACAGGCAT GCGTCACCAGACCCAGCTAATTTTTTCTTTTCTTTCTTTTTTTTTTTTTT TTGTAGAGACGGGGTCTCATTATGTTGCCCGAGGCTTCAGTATCTTTTCC AAAGCAACATGAAAGAAATGTGACCGTAAATCAATCAGCTTCTTGGTGTG ATCTATGTGACGGCTAGGTGATAAACGAGTTGGTCAGAGAAAACTGGAAA TATTTCCAAAGCCATGTTTACTCCCTTCACCCACCTGTGAGTCTTCGCCT TGGCTGTTTCCGACTCGGAATGTCCTCGCATTGATCCTCCCAATCACAGC CAGCTGAAACCAGCCTCCTTCCTGACGTATTCAGTAACTTTAGCTGATTG CCATCTCTCCTTCATCTCAACAACCTGTACCACACTCACTGGAGCACTTC GCTTTGCATCTTTAGTCGACCAGTTCAGATATATACAACCTATAAGGTAG GGACGGAGGCTTCTACCTGCCTGTACCCCCTTTGGAGGGCCCACGAATAC AGAGCTGAGCACAAAAGATGTTTAAAGGACATTTTGTCAAAAATGTCGCT TACAGGTAGGTCGTTATTAGCAAGGTAGAGCAGCGGTACGGCCGAGTCTA CGCTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-706	c.12 others(11): Show c.1292_*1997del		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					1949		chr17	TogoVar
TEX51_chr2_126893890_126907097	126897207	ACCATGTT others(699): Show ACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAGTGATCCACCT CCCTTTGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGCACCCA GCCTCAACTATTTCTTCTAGTAAACCTCAATGCCACATCCCTCCCCCTAC ACAATAGAATCTCTTTCTGTATATACTTCCAACACAACTTCTATTATAAA TAATTTTCACCTCTTCATTTTCTTTCTGGAACTTGTATTAGCTGGATGTT GGACCTCATGGATTAATTATCTAATTTTATTGTCTTTTATTTCCTATTTC CCATCTCTGTCTTTTTGTAGTTCTGTCTGGAACATTTCTGAAATGATCTC CCAACACTTCTATGGAATTTTTAAATTTACGCTATCATATTTTTAGTCCC CAATAACTTTTTCTTTTACATAGCAACTTCTTCTTGTCTGGGAAAAACAA TATTTTGTCAATTTAATGGTAATTGGGTTATAAGGCTTTTTGTTTTGTTT TGTTCTTTGTTTTTTTTTTTTTACTGGCGTTTCACTCTTGTTGCCCAGAC TGGAGTTGCAGTGGCATGATCTAGGCTCAGGCTCACCATATTCTCCGCCT CCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTC CAGGCATGTACCACCACACCCGGCTAATTTTGTATTTGTAGTAGAGATGG GGTTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-706	c.-17 others(11): Show c.-1711_-1006del		TEX51	ENSG00000237524.11	transcript	ENST00000568484.6	protein_coding					1682		chr2	TogoVar
CNTN5_chr11_99015949_100363885	99971278	TTCACGCC others(698): Show TTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCATG AGGTCAGGAGATCGTGACCATCCTGGCCAACACGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCGCGCCTGTAGTCAC AACTACTGGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGAGAGGCGGA GGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGTGACAGAG TGACACTCCGTCACACACATTAAAAACAAAAAACAAACAAACAAAAAACT CTACAAAATAATCAACAAATGCCAGCCCTAACTCGATCTCTAAAGACTAT GTCATTTTGCCAACACATAGCTTCCCGTATCTAAGGTATTTCGCTACCCA TGAGAAAACATTATTCTCCCACAGATTGAAATTATATAAATCGAAATTAT GGTCAAAGAATAATGTTTTGTTATGGCTAAAGTTTATAACTCACTAAAGA CTAAGATAATCATTAGCATTATTTAGCAATAAACATTTTTAAATTATAAT ATTTAATTTTAAAAAAATTTATCAAAAGATTTTAAAAGTCTGCATAAATT ATATCTAGCAGGCCAGCACTCAATAATGTGATCCCCAAACATTTGTATCA GGATAATTGACAATGCTTAAGAAAAAAAAACAAAAAAAACGGGTGGGAGC GGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0035 a0005c0005t0001g0017 a0005c0005t0001g0035	2	66	0.0303	-705	c.877 others(19): Show c.877+14301_877+15005del		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(698): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	334	0.0030	-705	c.38 others(11): Show c.3846_*4550del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1872		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134897	CCCGAGTG others(698): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-705	c.36 others(11): Show c.3670_*4374del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1696		chr12	TogoVar
FBXO34_chr14_55266421_55358611	55344986	CTAGGACA others(698): Show CTAGGACATTTCTGATAATAAACGGGTAGGGCTGGGTGTGGTGACTCACT CCTGTAATCCCAATACTTTGGGAGGCCAAGGTGGGAGGCTTACCTGAGTC CAGGAGTTCAGGATGATGATGGGGTCAAATGATGACCCCAACATTTATTA AAGTGAATTTACCTCTGCCTCCCCTGCTCCAAGTATGCTCAGCCACCTGT TGCCATCTCACTGGGAGGCATCACTCTTCATGTAGTTGCTGAAGCCATAG ATGAGGACCCATCCTTGACTCCTCTCCCTCATCCTCCATTTTCAGTCAGT AGTTAGAAACCTTCTTGTTATTCCTGTGAACCCATTTACTTGTCATCTCT CTACTCTTAGCACCTTAACTTAGACTCTCTTTATTTCCCACCTACCTGAA TTTCCTAAAAGCATCATCCACTTTTGAAGGCTTAGGACTTTGCGTATCTT CCCTCAGGGCTTAGCTTAGAAAATCAGGACTTCTCTGACCTGTTCCTATA CCCTCAGGTGAGCTTGGTGCTGATGTCCCCTTCTCCCTCTTCATCCATAC CTCTTCCTTCTTCTCCCCGTCTCCCCATGGGCTCTCACAGCACCCTGTGC TATCCTTCTGACACATATAACATTTGTTGTAATTGTTTGCTTTTCTGTCT CAAGGGCAGCAACTATGTTTTACTCATATTTATACCAGTGTCTAGCCCAG AGCGGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0232	1	334	0.0030	-705	c.-10 others(17): Show c.-10-5372_-10-4668del		FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
HRNR_chr1_152207076_152229193	152218223	TTGACCCA others(698): Show TTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAG CCCTGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACC GTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATG ACTGTCCTGATGTAGAACCGTGTTGCCCATGGGTAGAGGAATGACCTGAG CTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCG GTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGC TTGAAGACCACCCTGAGCCAGACCTATATGGGCCATAGCTGGAAGACTGC CCGGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGA TCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCAT GCTGACCATAGCTGGAAGACGAACCTGAGCTAGATCCATGTTGTTCGCTC CTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTG ACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCCTGAGCTAG ACTTGTGACCAAAGCCAGAAGACTGGCCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCGACCGGAGCCAGACCCATGTCGGCCATAGCTGGGAGA CTGCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00438.hp2 HG02027.hp2 HG02040.hp1 others(1): Show HG00438.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0013t0005g0018 a0001c0013t0005g0182	4	418	0.0096	-705	c.270 others(9): Show c.2701_3405del	p.Gly others(14): Show p.Gly901_Ser1135del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	3481/9629	2701/8553	901/2850			chr1	TogoVar
IDI1_chr10_1034419_1054119	1046894	TCTACACC others(698): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACA GCCCAGCTGCTCCACTGTCTGGTCCTTTGTCTACACCACACAGCCCAGCT GCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	438	0.0023	-705	c.140 others(17): Show c.140+1265_140+1969del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(698): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03239.hp2 HG01361.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0258 a0002c0002t0001g0116 a0001c0001t0001g0258 a0002c0002t0001g0116	2	362	0.0055	-705	c.981 others(17): Show c.981+1648_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PRPF6_chr20_63976132_64038100	64011869	TCTTTCTT others(698): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT CTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCACGG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01361.hp1 others(4): Show HG01123.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 others(4): Show a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260	7	294	0.0238	-705	c.152 others(18): Show c.1524+656_1524+1360del		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr20	TogoVar

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