Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
APOL2_chr22_36221209_36244527	36239298	CGGCTCTG others(622): Show CGGCTCTGCCACTGCTTTCCTGTCTGATCTGAACCAGCTACCTAACCTCT CTGAGCTTATCTACAAAAGCTGAATGATCCTTCCCTTATAGAGCTATTGC AAGAATAAGGACATGGGGGTAGATCACACTATCCCCAACTTACCAAGGGA TCTTCCTCTGACAGAGACTGAGCAAGATCCAACTGTTCTGAGCTGTGTGG ATCCCACGTCCAGCTGTGCATCTGTGTAATAACCAGACACGTCCTCCGGC CTCCCAGATATACCCTGGAATTCGAAAGGGAAAGTGAAAGTCACAACTTC CCAGCAGCTCATGACCAAGCACAGTAAACACGCTGCTCCCCAGCACCACC TGCAGTCCAGGCCCAGCCTCCTTGCTGCTGCACTTAGAGGAGCAGCCGCA GACCAGACATCCGGGTCCCTCTCATCCAACCCACCTGCCTCACATCCTCA GGATTCAAGGTCTGCTGTGTCAGCTGCCCATGTCTCAGGCAGTCAGAACC AGAGTTGAGCCTGGGGAGTTTTTTGAACCCATCTGAGCCGCTTGCCCCCC AACCCCCGCCCCGATCTCTGCAGTTTAAGGGCACAGCAGGTGGGGGAGAG AAGTCAGACTCAAGCCTCAGTGCAATTCCA	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0047 a0001c0001t0050g0047	1	382	0.0026	-629	c.-62 others(13): Show c.-620_-134+142del	APOL2	ENSG00000128335.14	transcript	ENST00000358502.10	protein_coding	1/5			chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924090	AACCCAGC others(622): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCC CCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCC AGCCCCCAACACTAACCCAGCCCCCACACTAACCCGGTCCCCACACTGAC CCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTATCCCGGCCCCCACACTAACCCGGCCCCCACA CTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTATCCCGGCC CCCCACACTACCCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCG GCCCCCCACACTGACCCGGCCCCCACACTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0003 a0005 a0003 a0005	a0003c0087 a0005c0005 a0003c0087 a0005c0005	a0003c0087t0002 a0005c0005t0002 a0003c0087t0002 a0005c0005t0002	a0003c0087t0002g0349 a0005c0005t0002g0348 a0003c0087t0002g0349 a0005c0005t0002g0348	2	343	0.0058	-629	c.488 others(16): Show c.488+1457_489-994del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	321873	GCGGGGCT others(622): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	86	0.0116	-629	c.392 others(19): Show c.3924+4504_3924+5132del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
ERICH1_chr8_659200_736224	675433	CGAGGACA others(622): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(16): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG02602.hp2 HG03453.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA20300.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0004c0006 a0001c0002 a0003c0004 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0003c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0004t0002 a0004c0006t0002	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(16): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0002g0300 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0337 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0003c0004t0002g0325 a0004c0006t0002g0249 a0004c0006t0002g0250 a0004c0006t0002g0327	19	341	0.0557	-629	c.305 others(17): Show c.305-2015_305-1387del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
HIC1_chr17_2050103_2068241	2052382	GGGCTGGG others(622): Show GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGATGGGGTTAGGGGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 NA19240.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	2	412	0.0049	-629	c.-28 others(11): Show c.-2876_-2248del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2720		chr17	TogoVar
LMNB2_chr19_2423166_2461959	2432829	ACCCCATC others(622): Show ACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCTTTCCGGT CACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGACCCT GGTCACCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGTCTTTC CGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGA CCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCGGT CATTCCAGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCAC CCTGATCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCC CCGGTCTTTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGCCCC GTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCC ATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCG GCCCCGTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTA CCCCCATGCCCCAGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGC CGACAGCCCCGTCACCCTGACCCTGGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	353	0.0028	-629	c.148 others(17): Show c.1482+368_1483-307del	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11			chr19	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(622): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	273	0.0037	-629	c.25 others(11): Show c.2535_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
SNTG2_chr2_945849_1372613	1012578	AGGATTTA others(622): Show AGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAAAGGGATTTATAAGG ACAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGG GATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGC AGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTG GTCTGGAGAAGGATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGGA TTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAG AGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGT CTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATT TATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAG AGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCT GGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTA TATGGGCAGAGAGAAGGGTGGTCTGTAGAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG01975.hp1 others(6): Show HG01257.hp2 HG01496.hp2 HG01975.hp1 HG02165.hp2 HG03654.hp1 HG03927.hp1 NA19000.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0002c0003 a0003c0007 others(3): Show a0001c0001 a0002c0003 a0003c0007 a0003c0008 a0004c0004 a0014c0032	a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0014c0032t0001	a0001c0001t0001g0061 a0001c0001t0001g0067 a0002c0003t0001g0015 others(6): Show a0001c0001t0001g0061 a0001c0001t0001g0067 a0002c0003t0001g0015 a0002c0003t0001g0064 a0002c0003t0001g0183 a0003c0007t0001g0060 a0003c0008t0001g0059 a0004c0004t0001g0065 a0014c0032t0001g0062	9	188	0.0479	-629	c.72+ others(17): Show c.72+61543_72+62171del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013022	GGGATTTA others(622): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGC AGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTG GTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGA TTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAG AGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGT CTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATT TATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAG AGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCT GTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTA TATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG03942.hp2 others(1): Show HG02976.hp1 HG03225.hp2 HG03942.hp2 NA18984.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0015 others(1): Show a0001c0001 a0004c0004 a0005c0015 a0006c0010	a0001c0001t0001 a0004c0004t0001 a0005c0015t0001 others(1): Show a0001c0001t0001 a0004c0004t0001 a0005c0015t0001 a0006c0010t0001	a0001c0001t0001g0134 a0004c0004t0001g0047 a0005c0015t0001g0153 others(1): Show a0001c0001t0001g0134 a0004c0004t0001g0047 a0005c0015t0001g0153 a0006c0010t0001g0033	4	152	0.0263	-629	c.72+ others(17): Show c.72+61987_72+62615del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TFB2M_chr1_246535561_246571261	246539656	CGGCCTCC others(622): Show CGGCCTCCCAAAGTGCTGGGGTTACAGGCGCGCGCCACCATGCCTGGCCC ACCCTAGGAACTTTTTTTTTGTTTGATGGGTCTTGCTTTGTTACCCAGGC TGCAATGCAGGGGGTTCTTCACAGGTACAATAAATAATAGCTCCCTGCAG CCTCGAACTCTTGGGCTGAAGTGATCCTCTCACCTCAGCCTCCGAAGTTG CTGGGACTACAGGAACCTGCCACCATGCCCAGCTGTTTTATAAAATATTT TTAGAAATGGGGGTTTCACCATGTTGCCCCCAGGCTAGACCCATGGGCTC AGTTGTCCTCCCTCCTCCACCTCCTGAGTAGCTGGGACTACAGGTGCACA CCACCATTCCTGGCAAGAAAACATTCTTTTTTTTTTTTTTTTTTTTCCGA GACTGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTATGATCTCG GCTCACTGCAACCTCTGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGC CTCCAGAGTAACTGGGATTACAGGTGCCCACCACCACACCAGGCTAATTT TTGTACTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTC GAACTCCTGACTTCGTGATCCGCCCGCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01074.hp1 others(8): Show HG00099.hp1 HG00099.hp2 HG01074.hp1 HG01123.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01978.hp2 NA18906.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0002 a0001c0013t0002 a0001c0003t0002 a0001c0013t0002	a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 others(8): Show a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0123 a0001c0003t0002g0325 a0001c0013t0002g0318	11	444	0.0248	-629	c.74 others(10): Show c.746_*1374del	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding		904		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190777	GCGGTGGA others(622): Show GCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTG GGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGG TGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGG GCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTGG GCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCG GGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGGC CTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCC CGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGG GCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCG AGGGCCGAGGTGACATCGTAGACTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	295	0.0034	-629	c.44 others(11): Show c.4435_*5063del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4810		chr1	TogoVar
DLGAP2_chr8_732628_1713476	1316533	CGTTTAAA others(621): Show CGTTTAAAAATAGAGGCTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCT ACACTCGAGACACTCGGCAGCGTTTAAAAATAGAGCGTGTGCGAGTGCAG CGTCTCTCCAACAGTGGTCTACACTCGAGACACTTGGCAGCTTTTAAAAA TACAGCGTGCGTGAGTGCAGTGTCTATCCCATAGTGGTCTACACTCGAGA AACTCGGCAGCTTTAAAAATAGAGCGTGTGCGAGTACAGCGTCTCTCCCA CAGTGGTCTACACTCGAGAAACTCGGTAGCGTTTAAAAATAGAGCCTGTG CGAGTGCAGCGTCTCTCCCACAGTGGTCTACACTCGAGAAACTCGGCAGC TTTTAAAAATAGAGCGTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGACACTCGGCAGCGTTTAAAAATAGAGCGTGTGCAAGTGCAGC ATCTCTCCAACAGTGGTCTACACTCGAGAAACTCGGCAGCTTTTAAAAAT AGAGCGTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAC ACTCGGCAGCGTTTAAAAATAGAGCCTGTGCGAGTGCAGCGTCTCTCCAA CAGTGGTCTACACTGGAGAAACTCGGCAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 HG02895.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0002 a0002c0007t0008 a0002c0001t0002 a0002c0007t0008	a0002c0001t0002g0032 a0002c0007t0008g0040 a0002c0001t0002g0032 a0002c0007t0008g0040	2	39	0.0513	-628	c.106 others(19): Show c.106+57651_106+58278del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737082	GTCCGTGT others(621): Show GTCCGTGTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGT GAGCATGTGACCATCCGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGT GACCGTCCGTGTGAGCGTGTGACCATCCGTGAGAGTGTGACCATCCATGT AAGCATCCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGAGCGTCCGT GTGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCAT CCGTGTGAGCGTGACCGTCCGTGAGTGTGTGACCGTCCGTGTGAGAGTGT GACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGA GTGTGTGAGCGTCCGTGTGAGTGTGACCACCCATGTGAGCATCTGTGTGA CCGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGT GACCATTCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGTGACCGT CCGTGAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGTGTGACCATCCAT GTGAGCATCCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACC GTCCGTGTGTGACCATCCATGTGAGCATC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0194 a0001c0005t0005g0194	1	328	0.0030	-628	c.603 others(17): Show c.603-6248_603-5621del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
PCGF3_chr4_700832_775089	746830	CTCGCCGT others(621): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	345	0.0029	-628	c.462 others(17): Show c.462+2177_462+2804del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RASA3_chr13_113972783_114137623	114006384	CGGACGCC others(621): Show CGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCT TACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGACGCCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGA CGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACG CCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCT TCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCC ACCTTACCCTTCTCCCCTCCTGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	66	0.0152	-628	c.174 others(18): Show c.1742+521_1742+1148del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RNF213_chr17_80255852_80403794	80315141	GTGGTAAA others(621): Show GTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGG TGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTG GTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACT AGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGG TGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGT GGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTG GTGGTGGTGGTACTGGAGGTGATGGTGGTCCGTGGAGGTGATGGTGGTGG TGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAG GTGATGGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGGTGGAGGTGACAGTGGTGATGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	288	0.0035	-628	c.281 others(19): Show c.2811+1979_2812-1415del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739180	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGT GAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0105 a0003c0003t0001g0105	1	403	0.0025	-628	c.-37 others(11): Show c.-3732_-3105del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3690		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739381	AGCCGGAC others(621): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0026 a0003c0003t0004g0026	1	303	0.0033	-628	c.-35 others(11): Show c.-3531_-2904del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3489		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739405	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA20752.hp2 HG00280.hp2 NA20752.hp2	a0003 a0003	a0003c0006 a0003c0015 a0003c0006 a0003c0015	a0003c0006t0001 a0003c0015t0001 a0003c0006t0001 a0003c0015t0001	a0003c0006t0001g0004 a0003c0015t0001g0004 a0003c0006t0001g0004 a0003c0015t0001g0004	2	396	0.0051	-628	c.-35 others(11): Show c.-3507_-2880del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3465		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739450	GGCCTGAT others(621): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 NA18950.hp2 NA18981.hp2 HG03492.hp1 NA18950.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0004 a0003c0003t0001g0026 a0003c0003t0004g0004 a0003c0003t0001g0004 a0003c0003t0001g0026 a0003c0003t0004g0004	3	370	0.0081	-628	c.-34 others(11): Show c.-3462_-2835del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3420		chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072218	CAGCCCCC others(621): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG TGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGTATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	100	0.0100	-628	c.224 others(18): Show c.2241+787_2241+1414del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291738	CCCGTGTC others(621): Show CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCC TCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCG TGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTG TCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCC CGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	257	0.0039	-628	c.121 others(17): Show c.1214+133_1214+760del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR81_chr17_1719704_1743585	1739381	AGCCGGAC others(621): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	278	0.0036	-628	c.16 others(11): Show c.1697_*2324del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		797		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739405	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	384	0.0026	-628	c.17 others(11): Show c.1721_*2348del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		821		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739450	GGCCTGAT others(621): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01928.hp1 HG03704.hp2 others(2): Show HG00544.hp1 HG01928.hp1 HG03704.hp2 NA18950.hp1 NA20752.hp2	a0001 a0025 a0001 a0025	a0001c0003 a0001c0062 a0025c0057 a0001c0003 a0001c0062 a0025c0057	a0001c0003t0001 a0001c0062t0001 a0025c0057t0001 a0001c0003t0001 a0001c0062t0001 a0025c0057t0001	a0001c0003t0001g0003 a0001c0062t0001g0076 a0025c0057t0001g0003 a0001c0003t0001g0003 a0001c0062t0001g0076 a0025c0057t0001g0003	5	358	0.0140	-628	c.17 others(11): Show c.1766_*2393del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		866		chr17	TogoVar
ZNF516_chr18_76352682_76500242	76393605	GGGGAGGG others(621): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01993.hp1 HG01952.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0057 a0001c0001t0019g0190 a0001c0001t0011g0057 a0001c0001t0019g0190	2	344	0.0058	-628	c.181 others(21): Show c.1811-13930_1811-13303del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZSWIM5_chr1_45011399_45211605	45067895	ATTATAGT others(621): Show ATTATAGTCTGAATTTTTTCCTAAGGACTAAAACTAATAAGAGAAATGGT GACAAGTGAAGATAAGATAGAAAGGATGTCTTTTATAAATAATTATGAAA CAAACCATTGTGTGGGTTCAGCCTCCACGTAAGCATTGAGGCTTATATAA TGAGACCTGTCCTGAGGGGGTTATTAAGTCTAAGGAAGCAATTTTTCTTT TTTTTTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTTACTCTATTGCC CAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCC AGGGTCCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGATTACA GGTGGTGCACACTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGAT GGGATTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCGCAGGTG ATCTGCCTGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC GGTGCCTGGCTGATAAGTGGTAATTTAAAAATTTTAATGTACGGTGAGCT GAAATCATGCCATTGCACTCCAGTCTGGGCAACGAGAGCGAAACTCCGTC TCAAAAAAAAAAAATTAATGTATTCCAAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0104 a0002c0006t0008g0104	1	232	0.0043	-628	c.953 others(17): Show c.953-8276_953-7649del	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	2/13			chr1	TogoVar
BTLA_chr3_112458966_112504472	112503845	AAGGAACA others(620): Show AAGGAACAAACAACAAACAAAAATTACTGTTTAAAGTATATTGTCTTACC AGCACAAATGGAAGAAGATAGTCACATAAGTTTCTGCAAAGATGTTTTCC AGGCCATGGTGCATCAATGGTCCCTATTAGAAAGCTACTTTAAGCTAAGG GCAAAAAATGTCAATATGACTAATTTTCAGTTGTTAGGGAAATAATACAT AGACACACACACACACGTTCCTATTCAGAAAAGGGAATAGAAGAAACATA GGTAGCCACTGGTCAATAGCCAGGGTGCCCTGCTGCAGCAGTGGGTGAAG TTTTTTAATTTGCCCACGCAATAGCCCCAGCCTCTGATCCTTGGAAGGTC TTTCTAGTTTTTGAAAATAAAGCTCAATGGGAAGCAGAATCTGAGGCAGA GACTAGTGTGCAGGAAGTTTATTAGGGTGTGCACTGGGAATCATTAAGCG TGGAGGCAGAAAAGAGAACCGAATTCAGCAGAGAGTAAAGGGAGACATCA GGATGTGATACAGTCTCAGCAAAGGCCTCAGCAAAGCAGAAGAAGGTCTG AAGCTGAGTTGATCCTTTATAGTTTTGAGTTTGGCCAAGGAGGTTGGGAC TTTATATACCTGCAATGACCAGTAATTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-627	c.-51 others(11): Show c.-5114_-4488del	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding		4374		chr3	TogoVar
CD38_chr4_15773328_15858232	15791177	GGGGTCAG others(620): Show GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCGTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCACCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCG GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGTCCGCCCGTACTG GGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGATCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	342	0.0029	-627	c.233 others(19): Show c.233+12560_233+13186del	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDH4_chr20_61247261_61945617	61783525	TAGTTCTC others(620): Show TAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCTGGGAGAAATGTAAGCC CAGTTCCTCAGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCTCCCAGG AGAATATAAGCCTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCT TGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCCGGG CCCTCAGATGTCCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATC CCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAA GAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATAT CCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAG GCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGG ACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATC CCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAA GAGAAATGTAATCCCAGTTCCTTGGGAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG03130.hp2 others(1): Show HG02647.hp2 HG02895.hp2 HG03130.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0028 a0001c0003t0035 a0002c0004t0012 others(1): Show a0001c0001t0028 a0001c0003t0035 a0002c0004t0012 a0002c0004t0033	a0001c0001t0028g0092 a0001c0003t0035g0043 a0002c0004t0012g0016 others(1): Show a0001c0001t0028g0092 a0001c0003t0035g0043 a0002c0004t0012g0016 a0002c0004t0033g0095	4	49	0.0816	-627	c.576 others(19): Show c.576+10376_576+11002del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(620): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp2 HG03942.hp2 others(1): Show HG02486.hp2 HG03017.hp2 HG03942.hp2 NA18939.hp1	a0004 a0017 a0021 others(1): Show a0004 a0017 a0021 a0060	a0004c0052 a0017c0031 a0021c0033 others(1): Show a0004c0052 a0017c0031 a0021c0033 a0060c0086	a0004c0052t0001 a0017c0031t0002 a0021c0033t0001 others(1): Show a0004c0052t0001 a0017c0031t0002 a0021c0033t0001 a0060c0086t0002	a0004c0052t0001g0169 a0017c0031t0002g0073 a0021c0033t0001g0237 others(1): Show a0004c0052t0001g0169 a0017c0031t0002g0073 a0021c0033t0001g0237 a0060c0086t0002g0020	4	174	0.0230	-627	c.212 others(18): Show c.2121-1397_2121-771del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
DSC2_chr18_31053840_31107421	31097305	AATCATTT others(620): Show AATCATTTTCAAAAGCAATTAAAAGTTGAAATGCCAAGGAGTAAATTTAA CAAGAAACATGTAAAGCCTATTTGAAGGAAACCTGAAAACATTTCTGCAG GGCAGAAAAGTACACTTGCAAAAAAAGAAAGACAAAAATCAACAACGTAT CTATATCGATTCTTACTAAGTTAAATTACAAATTTTTTGATACCAATAAA AACCTCCATAAAATTTTCTCTGGAACTAAACAAGCTGATTTAAAAGGCTA TAAGGAAAAAATAAAAAATTAAGATAGGAAAATTATTTTTTAAAAAGCAA TGAAAGGCTATCAACCCTAGCAGATATTACAAATCATATAAAATCTCAAC AATTAAATCAATATGGTACTGGCATATGAATAGAATGATATTTGACCCAC AGGAATTGGAAAAGAAGAGGCAAAACAATTTGTATTTGCATTAGATATGA CTGCGTAAAGTCCCTAAAAGTTGTAACTTTTTATTATACCCACCAATAAT TTATGAGTCAACCACATACTTGCCTACATCGCACGTTGTTGAACTTTTGG GTGTCTGCCAAGTGTGAAATGGCATTTTAATGTAATTTTTTATTCATATT TTATTATGAGTGAGGTTGACATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp2 HG02647.hp2 HG03486.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0008 a0004c0005t0081 a0002c0002t0008 a0004c0005t0081	a0002c0002t0008g0048 a0004c0005t0081g0302 a0002c0002t0008g0048 a0004c0005t0081g0302	2	378	0.0053	-627	c.69+ others(15): Show c.69+3971_70-3663del	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
GALNT9_chr12_132191372_132334589	132233759	CGATGGGG others(620): Show CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGCCCCTAGTGCCACACACTCGAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0120 a0001c0022t0001g0120	1	181	0.0055	-627	c.107 others(21): Show c.1077+13524_1077+14150del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
IL3RA_chrX_1331785_1387689	1353297	CTATCATG others(620): Show CTATCATGGATTCCATCATGGGTCATGGGACCCCCCCATCATGGGTCCCA TCATGAGTCATGGGATCCCTCATCATGGGTTTCATCATGGGTCATAGGAC CCCCATCATGGATTCCATCATGGGTCATGGGAACCTCCATCATGGGTCCC ATTATGGGTCATAGAATTCCCCATCATGGGTTCCATCATGAGTCATGGGA CCCCCCATCATGGGTTCCACATGGGATCCCTCATCATTGGTTCCATCATG GGTCATAGGATCCCCCATCATAGGTCCCATCATGGGTTCCACATGGGATC CCCCATCATAGGTCCCATCATGGGTCATGGGACCCCCCCCATCATGGGTT CCATCACGGGTCATGGGACCCCCCCCATCATGGGTTCCATCACGGGTCAT GGGACCCCCCCCAATCATGGGTTCCATCATGGGTCATGGGAACCCCCATC ATGGGTTTCATCATGGGTCATAGGATCCCCTATCATGGGTTCCATCATGG GTCATGGGACCCCCCCCATCACGGGTTCCATCATGGGTCATGGGAACCCC CATCATGGGTTTCATCATGGGTCATAGGATCCCCTATCATGGATTCCATC ATGAGTCATGGGATCCCTCATCATGGGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG02622.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0006g0085 a0001c0001t0001g0014 a0001c0001t0006g0085	2	111	0.0180	-627	c.616 others(16): Show c.616+793_616+1419del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KANK1_chr9_499695_751103	707526	GTTTCAGA others(620): Show GTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGA CAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAG TTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTT AATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTC TCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCA GCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGC TGCTGCAGCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG03209.hp2 HG02559.hp2 HG02809.hp1 HG03209.hp2	a0006 a0011 a0006 a0011	a0006c0018 a0011c0009 a0006c0018 a0011c0009	a0006c0018t0001 a0006c0018t0002 a0011c0009t0001 a0006c0018t0001 a0006c0018t0002 a0011c0009t0001	a0006c0018t0001g0236 a0006c0018t0002g0223 a0011c0009t0001g0008 a0006c0018t0001g0236 a0006c0018t0002g0223 a0011c0009t0001g0008	3	246	0.0122	-627	c.38- others(15): Show c.38-3221_38-2595del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707583	GTTTCAGA others(620): Show GTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGA CAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAG TTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTT AATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTC TCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCA GCTTCTCTCCTGTTAATGGAATTTCAGACAGTCCTGGAGACAGGTCTGGC TGCTGCAGCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02280.hp1 others(6): Show HG01943.hp2 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1	a0004 a0005 a0012 others(1): Show a0004 a0005 a0012 a0014	a0004c0011 a0004c0020 a0005c0004 others(3): Show a0004c0011 a0004c0020 a0005c0004 a0012c0022 a0012c0035 a0014c0012	a0004c0011t0001 a0004c0020t0001 a0004c0020t0007 others(4): Show a0004c0011t0001 a0004c0020t0001 a0004c0020t0007 a0005c0004t0002 a0012c0022t0001 a0012c0035t0001 a0014c0012t0001	a0004c0011t0001g0076 a0004c0011t0001g0216 a0004c0020t0001g0069 others(6): Show a0004c0011t0001g0076 a0004c0011t0001g0216 a0004c0020t0001g0069 a0004c0020t0007g0070 a0005c0004t0002g0083 a0012c0022t0001g0217 a0012c0022t0001g0221 a0012c0035t0001g0219 a0014c0012t0001g0095	9	222	0.0405	-627	c.38- others(15): Show c.38-3211_38-2585del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126484705	ACCTTCCA others(620): Show ACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATG AGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTG TGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCGTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCT TCCACTGTGCTTCATGAGGTCAGGGTAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20805.hp1 HG00323.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0095 a0001c0003t0005g0208 a0001c0003t0001g0095 a0001c0003t0005g0208	2	316	0.0063	-627	c.873 others(16): Show c.873+675_873+1301del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126484735	ACCTTCCA others(620): Show ACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGA GGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTG TGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGC TTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCT TCCACTGTGCTTCATGAGGTCAGGGTAC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03710.hp2 HG03831.hp1 others(9): Show HG03017.hp1 HG03710.hp2 HG03831.hp1 NA18948.hp2 NA18951.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0046 a0001c0001t0047 a0001c0003t0011	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0011g0260 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0017g0261 a0001c0001t0017g0263 a0001c0001t0017g0303 a0001c0001t0046g0304 a0001c0001t0047g0305 a0001c0003t0011g0182	12	314	0.0382	-627	c.873 others(16): Show c.873+705_873+1331del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NXN_chr17_794310_984776	941037	GCAGCCAT others(620): Show GCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGCGAACAAGATT CCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAA CAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTA CAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTTCCT GGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACA CCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAATTCA CCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCAT GAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCG CAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTC CAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAAC AAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTAC AGCGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTG GATTTACAGCGAACAAGATTCCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18952.hp2 HG02027.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0169 a0001c0001t0023g0052 a0001c0001t0002g0169 a0001c0001t0023g0052	2	240	0.0083	-627	c.360 others(19): Show c.360+37655_360+38281del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
RAD21L1_chr20_1221044_1260876	1258528	AGATCTTC others(620): Show AGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTA GGTAACTGGTTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATACA AACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCT CTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTT TGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGG TAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCT TGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAATATAA ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCATCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGATTT GGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGTTTCCTTCTAGGTAACTGATTTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0085 a0002c0002t0007g0085	1	362	0.0028	-627	c.40 others(11): Show c.4072_*4698del	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2653		chr20	TogoVar
RTEL1_chr20_63653312_63701245	63669815	GCCAAGAT others(620): Show GCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAG ACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATC CGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGA GAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACC ACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCA GTTAACCACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGATGGGTGGA ATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGACGTTTCGCCAAGAT GGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGACGTTTCG CCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCCGGACAGA CGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAGAGCATCC GGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCACTGGGAG AGCATCCGGACAGACGTTTCGCCAAGATGGGTGGAATGGCCAGTTAACCA CTGGGAGAGCATCCGGACAGACGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0051 a0004c0005t0001g0060 a0004c0005t0001g0051 a0004c0005t0001g0060	2	58	0.0345	-627	c.699 others(17): Show c.699+2268_700-2109del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMEM184B_chr22_38214291_38278010	38229609	AGCTGGAT others(620): Show AGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAG CTAGAGTGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGCCAGCC CAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAG GTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCA CAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTC TAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAG GCTACTCTAGACCACAGGGAGGCCAGCCCAGGAAGCTAGAGCGGCTGGAT TGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCCAGGAAGCTAGAGCG GCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGCCAGCCCAGGAAGC TAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGGTCAGCCC AGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACCACAGGGAGG CCAGCCCAGGAAGCTAGAGCGGCTGGACTGCCAAGGCTACTCTAGACCAC AGGGAAGTCAGCCCAGGAAGCTAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18944.hp2 HG00438.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0292 a0001c0001t0002g0285 a0001c0001t0002g0292	2	332	0.0060	-627	c.525 others(16): Show c.525+433_525+1059del	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291748	TCCGTGTC others(620): Show TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA CGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGT GTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC CGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA CGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTC CGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTC CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACT CCGTGTCCCCCGTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0070 a0001c0002t0003g0070	1	280	0.0036	-627	c.121 others(17): Show c.1214+124_1214+750del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238689	GCCTCCCG others(619): Show GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGAT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	96	0.0104	-626	c.136 others(19): Show c.1361+2816_1361+3441del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CHID1_chr11_862859_915810	896082	GCAGCCTC others(619): Show GCAGCCTCCACCCCAGACACAACGAGCCTGTCTCAGTGCCCCCAGCCTCC ACCCCAGACACGAGCCTGTCTCAGCACCCCCAGCCTCCACCCCAGACACA ACGAGGCTGTCTCAGCACCCCCAGCCTCCACCCCAGACACGAAACTGTCT CAGGGCCCCCAGCCTCCACCCCAGACATGAGGCTGTCTCAGCACCCCCAG CCTCCACCCCAGACACAACGAGGCTGTCTCAGTGCCCCCAGCCTCCACCC CAGACATGAGGGTGTCTCAGCACCCCCAGCCTCCACCCTAGACACAACAA GCCTGTCTCAGCACCCCCAGCCTCCAATCCAGACACAACGAGCCTGTCTC AGCACCCCCAGCCTCCACCCCAGACACAAGGCTGTCTCAGCACCCCCAGC CTCCACCCCAGACATGAGGCTGTCTCAGCACCCCCAGCCTCCACCCCAGA CGTGAGGCTGTCTCAGCACCCCCAGCCTCCACCCCAGACGTGAGGCTGTC TCAGCACCCCCAGCCTCCACCCCAGACACAATGAGCCTGTCTCAGTGCCC CCAGCCTCCACCCCAGACACGAAACTGTCTCAGGGCCCCCAGCCTCCACC CCAGACATGAGGCTGTCTCAGCACCCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp2 others(6): Show HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0008 a0001c0001t0001g0107 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0214 a0001c0001t0017g0186	9	384	0.0234	-626	c.608 others(17): Show c.608+2632_609-2564del	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
DSC2_chr18_31053840_31107421	31097306	ATCATTTT others(619): Show ATCATTTTCAAAAGCAATTAAAAGTTGAAATGCCAAGGAGTAAATTTAAC AAGAAACATGTAAAGCCTATTTGAAGGAAACCTGAAAACATTTCTGCAGG GCAGAAAAGTACACTTGCAAAAAAAGAAAGACAAAAATCAACAACGTATC TATATCGATTCTTACTAAGTTAAATTACAAATTTTTTGATACCAATAAAA ACCTCCATAAAATTTTCTCTGGAACTAAACAAGCTGATTTAAAAGGCTAT AAGGAAAAAATAAAAAATTAAGATAGGAAAATTATTTTTTAAAAAGCAAT GAAAGGCTATCAACCCTAGCAGATATTACAAATCATATAAAATCTCAACA ATTAAATCAATATGGTACTGGCATATGAATAGAATGATATTTGACCCACA GGAATTGGAAAAGAAGAGGCAAAACAATTTGTATTTGCATTAGATATGAC TGCGTAAAGTCCCTAAAAGTTGTAACTTTTTATTATACCCACCAATAATT TATGAGTCAACCACATACTTGCCTACATCGCACGTTGTTGAACTTTTGGG TGTCTGCCAAGTGTGAAATGGCATTTTAATGTAATTTTTTATTCATATTT TATTATGAGTGAGGTTGACATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02970.hp2 HG01109.hp2 HG01243.hp1 HG02970.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0080 a0004c0005t0082 a0005c0006t0083 a0004c0005t0080 a0004c0005t0082 a0005c0006t0083	a0004c0005t0080g0300 a0004c0005t0082g0299 a0005c0006t0083g0301 a0004c0005t0080g0300 a0004c0005t0082g0299 a0005c0006t0083g0301	3	378	0.0079	-626	c.69+ others(15): Show c.69+3971_70-3664del	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
GINS3_chr16_58387471_58411147	58396054	ACCTCCCG others(619): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCC CTCTTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTACCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTACCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGAGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG TCGGGCGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGATCCCCCCACCTCCCTTCCCGGACGGGGCGGCTGGC CGGGCGGTGGGCTGACCCCCCGACCTC	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	432	0.0023	-626	c.186 others(17): Show c.186+3306_186+3931del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL3RA_chrX_1331785_1387689	1353297	CTATCATG others(619): Show CTATCATGGATTCCATCATGGGTCATGGGACCCCCCCATCATGGGTCCCA TCATGAGTCATGGGATCCCTCATCATGGGTTTCATCATGGGTCATAGGAC CCCCATCATGGATTCCATCATGGGTCATGGGAACCTCCATCATGGGTCCC ATTATGGGTCATAGAATTCCCCATCATGGGTTCCATCATGAGTCATGGGA CCCCCCATCATGGGTTCCACATGGGATCCCTCATCATTGGTTCCATCATG GGTCATAGGATCCCCCATCATAGGTCCCATCATGGGTTCCACATGGGATC CCCCATCATAGGTCCCATCATGGGTCATGGGACCCCCCCCATCATGGGTT CCATCACGGGTCATGGGACCCCCCCCATCATGGGTTCCATCACGGGTCAT GGGACCCCCCCCAATCATGGGTTCCATCATGGGTCATGGGAACCCCCATC ATGGGTTTCATCATGGGTCATAGGATCCCCTATCATGGGTTCCATCATGG GTCATGGGACCCCCCCCATCACGGGTTCCATCATGGGTCATGGGAACCCC CATCATGGGTTTCATCATGGGTCATAGGATCCCCTATCATGGATTCCATC ATGAGTCATGGGATCCCTCATCATGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp2 HG02451.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0099 a0001c0001t0007g0097 a0001c0001t0006g0099 a0001c0001t0007g0097	2	111	0.0180	-626	c.616 others(16): Show c.616+793_616+1418del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
LMF1_chr16_848634_975984	953177	ACACCCCA others(619): Show ACACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGT TCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	184	0.0054	-626	c.503 others(16): Show c.503+554_503+1179del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132352058	GTGTGGGG others(619): Show GTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGC CTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGC CTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGC CTCCGTGTGGGGCAGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCA TGGGCTCCCTTGTTTGTAGCCCCGAGGCCTCCGGGTGGGGCAGGCGCAGG TGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTG CAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTA GCCCCGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGG GCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGG GCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTG TGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTG TGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAGGCGCTGAGGCCTC CGTGTGGGGCAGGCGCTGAGGCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01106.hp1 others(56): Show HG00597.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18951.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19085.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0015 a0008c0014 a0001c0001 a0004c0015 a0008c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0050 a0001c0001t0053 a0004c0015t0015 a0008c0014t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(56): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0074 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0023g0039 a0001c0001t0025g0073 a0001c0001t0028g0052 a0001c0001t0029g0071 a0001c0001t0034g0043 a0001c0001t0036g0061 a0001c0001t0038g0077 a0001c0001t0039g0075 a0001c0001t0043g0053 a0001c0001t0050g0083 a0001c0001t0053g0082 a0004c0015t0015g0063 a0008c0014t0001g0049	59	288	0.2049	-626	c.107 others(17): Show c.1073+317_1073+942del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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