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
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(347): Show TCCCCACCTCCCCCCACCCCCCCCCCACCTCCCCCACCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCCCACCCCCCACTCTCCCCCACCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCAC CCCCACCCACCTCCCCCCACCCCCCACCCACCTCCCCCCCACCCCCCCAC CTCCCCCACCCCCCCACCTCCCCCCCACCCCCCCACCCCCCACCCCCCTA CCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCCCCTACCCCCCCACC CCCCACCCTCCCCCCACCCCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0202 a0001c0001t0022g0202	1	254	0.0039	354	c.39+ others(371): Show c.39+32844_39+32845insACCCCCCCCCCACCTCCCCCACCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCCCACCCCCCACTCTCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCCACCCACCTCCCCCCCACC CCCCCACCTCCCCCACCCCCCCACCTCCCCCCCACCCCCCCACCCCCCAC CCCCCTACCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCCCCTACCC CCCCACCCCCCACCCTCCCCCCACCCCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25565909	T T	TTCACAAC others(347): Show TTCACAACTAGTTAAGTCAGTATAAATTAGATGTAATATGATTAATTTTT TTTTCTGAAAAAATTTCTAGATTTAAAATTAGGTAAACATGAGCAAAATT AAAACTTTATCTTTCCAAATTTCCAAAATTTTAAGAGACAGATATATTTA AAACTTTTTCTAAGTTTTCATGAGGAAATCCTACTTTTCTCTATTGAAGT TAGTGCCCATTTGTTGCTAGCTCTTCTGAAATGTGAGTGTATAAGGCTCG CACACCCACAGGCTGTGATGCTGCTATTCCGACTCAGTTCTTGGTGATGC TGATGAAGTGGTCCAAGCCCACAGAGGATGCTGCTGGAGTCTATGTTCTG TTTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0002 a0001c0005t0023g0002	1	122	0.0082	354	c.147 others(373): Show c.1473+1981_1473+1982insCTTTATCTTTCCAAATTTCCAAAATT TTAAGAGACAGATATATTTAAAACTTTTTCTAAGTTTTCATGAGGAAATC CTACTTTTCTCTATTGAAGTTAGTGCCCATTTGTTGCTAGCTCTTCTGAA ATGTGAGTGTATAAGGCTCGCACACCCACAGGCTGTGATGCTGCTATTCC GACTCAGTTCTTGGTGATGCTGATGAAGTGGTCCAAGCCCACAGAGGATG CTGCTGGAGTCTATGTTCTGTTTCATCACAACTAGTTAAGTCAGTATAAA TTAGATGTAATATGATTAATTTTTTTTTCTGAAAAAATTTCTAGATTTAA AATTAGGTAAACATGAGCAAAATTAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	16/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN3_chr14_92053552_92111582	92073408	T T	TTAAAAAG others(347): Show TTAAAAAGCAGAAACGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0088 a0017c0019t0088	a0017c0019t0088g0189 a0017c0019t0088g0189	1	402	0.0025	354	c.873 others(371): Show c.873-2356_873-2355insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCCGTTTCTGCTTTTTA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10			chr14	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCAAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0333 a0002c0001t0001g0333	1	356	0.0028	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCAAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0340 a0002c0001t0001g0340	1	356	0.0028	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18965.hp2 HG02071.hp2 NA18965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0347 a0002c0001t0001g0208 a0002c0001t0001g0347	2	356	0.0056	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02040.hp1 NA18979.hp2 others(3): Show HG01496.hp2 HG02040.hp1 NA18979.hp2 NA19054.hp1 NA19066.hp1 NA19083.hp2	a0002 a0016 a0002 a0016	a0002c0001 a0016c0026 a0002c0001 a0016c0026	a0002c0001t0001 a0016c0026t0001 a0002c0001t0001 a0016c0026t0001	a0002c0001t0001g0246 a0002c0001t0001g0325 a0002c0001t0001g0329 others(3): Show a0002c0001t0001g0246 a0002c0001t0001g0325 a0002c0001t0001g0329 a0002c0001t0001g0331 a0002c0001t0001g0349 a0016c0026t0001g0348	6	356	0.0169	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA19060.hp1 others(2): Show HG00621.hp2 HG02135.hp1 NA19060.hp1 NA19088.hp1 NA20905.hp2	a0002 a0017 a0002 a0017	a0002c0001 a0002c0022 a0017c0027 a0002c0001 a0002c0022 a0017c0027	a0002c0001t0001 a0002c0022t0001 a0017c0027t0001 a0002c0001t0001 a0002c0022t0001 a0017c0027t0001	a0002c0001t0001g0332 a0002c0001t0001g0345 a0002c0022t0001g0061 others(2): Show a0002c0001t0001g0332 a0002c0001t0001g0345 a0002c0022t0001g0061 a0002c0022t0001g0283 a0017c0027t0001g0334	5	356	0.0140	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(347): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTTCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATATC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0344 a0002c0001t0001g0344	1	356	0.0028	354	c.249 others(373): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285943	C C	CCCCAACC others(347): Show CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCG CGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG01109.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0068 a0001c0003t0021g0069 a0001c0003t0021g0068 a0001c0003t0021g0069	2	378	0.0053	354	c.21 others(365): Show c.2178_*2179insAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAAC CGCGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGT TGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAAC CGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCG GGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1496		chr16	TogoVar
B3GNT2_chr2_62191115_62229731	62210420	T T	TGAAAAGA others(347): Show TGAAAAGATGGCATCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCACGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCT GAGGCAGGAGAATGGTGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	406	0.0025	354	c.-9- others(371): Show c.-9-11778_-9-11777insGGCCGGGCACGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCACGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTAG GGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGC GAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAAGATGGCATC	B3GNT2	ENSG00000170340.11	transcript	ENST00000301998.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(347): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02056.hp2 HG02486.hp1 HG00642.hp1 HG02056.hp2 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0234 a0002c0002t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0234 a0002c0002t0001g0195	3	268	0.0112	354	c.328 others(367): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(347): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGAGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA18747.hp1 NA19063.hp2 HG00673.hp1 NA18747.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	300	0.0100	354	c.-39 others(365): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGGGGAGGGGGAGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(347): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01069.hp1 others(81): Show HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18952.hp2 NA18965.hp1 NA18980.hp1 NA18986.hp1 NA18995.hp2 NA19012.hp2 NA19043.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0002g0002 a0002c0003t0001g0002 a0003c0004t0001g0002	84	300	0.2800	354	c.-39 others(365): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31104757	G G	GGGGGGTC others(347): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	300	0.0033	354	c.-39 others(365): Show c.-3900_-3899insGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCTT CCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3628		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31104790	G G	TTCCGGGA others(347): Show TTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	300	0.0033	354	c.-38 others(365): Show c.-3868_-3867insTTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGTCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCC	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		3596		chr16	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(347): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAAGGGAGGGGAAGGGAA GGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGCGGGGAGT GGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGG AGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGAG GGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGG AGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	186	0.0054	354	c.565 others(373): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCTTACCC TTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCTCTC CTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(347): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGAA GGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGCGGGGAGT GGAGAGGGAGGGGAGGGGAGAGAGAGGGGAGGGGAGGGAAGAGGGAGGGG AGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGAG GGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGG AGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	186	0.0054	354	c.565 others(373): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCTCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCTCTC CTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(347): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGAA GGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGCGGGGAGT GGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGG AGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGAG GGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGG AGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(54): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 others(54): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0175	57	186	0.3065	354	c.565 others(373): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCTCTC CTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(347): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGAA GGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACAGGGAGGGGTGGGGAGT GGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGG AGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAGGGAAGAGGGAAGGGAG GGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGG AGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGGGGAGAGGGAGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA20300.hp2 HG01070.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0094 a0001c0001t0001g0141	2	186	0.0108	354	c.565 others(373): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCACCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCTCTC CTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(347): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	344	0.0029	354	c.84+ others(369): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012169	T T	TCCTCCCC others(347): Show TCCTCCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCC TCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCCCTTCTCCCTCCCCTCCCCTCCTCCCTCCCCT CCTCCCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCACCCTCCTCCC CTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	330	0.0030	354	c.431 others(371): Show c.4311+761_4311+762insCTCCCCTCCCCTCCTCCCCTCCCCTCCT CTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCACCCTCCTCCCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(347): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	330	0.0030	354	c.431 others(371): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCG others(347): Show CCCCCCCGGACGAGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GACCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0049 a0049	a0049c0063 a0049c0063	a0049c0063t0001 a0049c0063t0001	a0049c0063t0001g0015 a0049c0063t0001g0015	1	326	0.0031	354	c.144 others(371): Show c.144+2193_144+2194insCCCGGACGAGGCGGCTGGCCAGGCAGAG GGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCGCCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGT GGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCGG others(347): Show CCCCCCGGACGAGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG ACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0016 a0017c0021t0001g0016	1	326	0.0031	354	c.144 others(371): Show c.144+2193_144+2194insCCGGACGAGGCGGCTGGCCAGGCAGAGG GGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGT GGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C9orf85_chr9_71906639_71978457	71929860	T T	TAAACTTA others(347): Show TAAACTTAAAGATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	250	0.0080	354	c.103 others(373): Show c.103-17130_103-17129insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACTTAAAGATATCT	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(347): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03942.hp2 HG04199.hp2 others(1): Show HG00140.hp1 HG03942.hp2 HG04199.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0003g0089 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0003g0089 a0001c0002t0003g0063	4	166	0.0241	354	c.198 others(373): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13381387	A A	AGACCCTG others(347): Show AGACCCTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0005 a0005	a0005c0066 a0005c0066	a0005c0066t0001 a0005c0066t0001	a0005c0066t0001g0034 a0005c0066t0001g0034	1	218	0.0046	354	c.540 others(371): Show c.540-9609_540-9608insATGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATACAGGGTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(347): Show TATATACATATATATGTGTATATATATGTATATACATATATATGTGTATA TATATGTATATACATATATATGTGTATATATATGTATATACATATATATG TGTATATATATGTATATACATATATATGTGTATATATATGTATATACATA TATATATGTGTATATATATGTATATACATATATATATGTGTATATATATG TATATACATATATATGTGTATATATATGTATATACATATATATATGTGTA TATATATGTATATACATATATATATGTGTATATATATGTATATACATATA TATATGTGTATATATATGTATATACATATATATATGTGTATATATATGTA TATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0112 a0001c0001t0013g0112	1	164	0.0061	354	c.125 others(373): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATATGTATATACATATATATACACATATATATATGTATAT ACATATATATACACATATATATGTATATACATATATATACACATATATAT ATGTATATACATATATATACACATATATATATGTATATACATATATATAC ACATATATATGTATATACATATATATACACATATATATGTATATACATAT ATATACACATATATATGTATATACATATATATACACATATATATGTATAT ACATATATATACACATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMKK1_chr17_3855315_3898053	3868086	T T	TGGGCACG others(347): Show TGGGCACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGCTCTGGG GGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGACGCAG GCCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACGTGGGCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGTGG GCTCTGGGGGAGACGCAGGCCCGTCTAACTGATACGCGGGATCTGGGGGA GACGCAGGCCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGC CGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCACCGTCTAACTGA TACGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03453.hp1 HG06807.hp1 others(1): Show HG01099.hp2 HG03453.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0025 a0001c0003t0053 a0001c0002t0006 a0001c0003t0025 a0001c0003t0053	a0001c0002t0006g0014 a0001c0003t0025g0366 a0001c0003t0053g0367 a0001c0002t0006g0014 a0001c0003t0025g0366 a0001c0003t0053g0367	4	446	0.0090	354	c.134 others(373): Show c.1341+1400_1341+1401insGCGTATCAGTTAGACGGTGCCTGCAT CTCCCCCGTGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAG CCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCCAGATCCCGCGTATCA GTTAGACGGGCCTGCGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGGC CTGCGTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCC CCCAGAGCCCACGTATCAGTTAGACGGGCCTGCGTCTCCCCCAGAGCCCA CGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCGCGTATCAGTT AGACGGTGCCTGCATCTCCCCCGTGCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(347): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCT CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0269 a0001c0004t0001g0269	1	410	0.0024	354	c.-22 others(371): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(347): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCG CCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCC CATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCC CACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTG CCACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0193 a0003c0015t0002g0193	1	284	0.0035	354	c.411 others(371): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGA GGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTG GCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(347): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	354	c.27 others(365): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(347): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	354	c.27 others(365): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(347): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	442	0.0023	354	c.27 others(365): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(347): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0025 a0001c0001t0022g0025	1	300	0.0033	354	c.456 others(371): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAAAGAAA others(347): Show AAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAA GAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	258	0.0039	354	c.403 others(369): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCT TTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCT TTCTTTCTCTTTCTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(347): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATGAATATATATATATGAATATATATATATGAATATATATATATGA ATATATATATGAATATATATATATGAATATATATATATGAATATATATAT ATGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	245	0.0041	354	c.124 others(369): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATTCATATATATATATTCATATATATA TATTCATATATATATATTCATATATATATTCATATATATATATTCATATA TATATATTCATATATATATATTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CIDEA_chr18_12249361_12282595	12262175	G G	GAAAAAAA others(347): Show GAAAAAAAAAGTAAATTTTTTTTTCTGGCCGGGCACGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0163	1	448	0.0022	354	c.39- others(367): Show c.39-631_39-630insTTTTCTGGCCGGGCACGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGTAAATTTTT	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CIDEA_chr18_12249361_12282595	12262175	G G	GAAAAAAA others(347): Show GAAAAAAAAAGTAAATTTTTTTTTCTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0409 a0001c0001t0005g0410 a0002c0002t0001g0166 a0001c0001t0005g0409 a0001c0001t0005g0410 a0002c0002t0001g0166	3	448	0.0067	354	c.39- others(367): Show c.39-631_39-630insTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGTAAATTTTT	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(347): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01167.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG01167.hp1 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0219	5	308	0.0162	354	c.637 others(369): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCT CCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTC CCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCC CCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCC CTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCC TCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT2_chr12_70238433_70359993	70307578	A A	ACCAAATT others(347): Show ACCAAATTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	280	0.0036	354	c.49- others(369): Show c.49-3302_49-3301insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCCAAATTAACTTTTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNPY3_chr6_42924480_42944294	42935941	T T	TAAAGACA others(347): Show TAAAGACACTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCT GCGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	408	0.0049	354	c.372 others(369): Show c.372+283_372+284insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCTGCGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGACACTAGA	CNPY3	ENSG00000137161.18	transcript	ENST00000372836.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL10A1_chr6_116113909_116131132	116116343	T T	TAAAAATA others(347): Show TAAAAATAACTACTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	354	c.37 others(365): Show c.3729_*3730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAAAAGTAGTTATTTTT	COL10A1	ENSG00000123500.10	transcript	ENST00000651968.1	protein_coding		2565		chr6	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(347): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG GGGAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	292	0.0034	354	c.106 others(373): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGGCAGGCAGGACCCGG CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG CAGGACCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGG others(347): Show AGGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG GGGAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	292	0.0034	354	c.106 others(373): Show c.106+26020_106+26021insGGCAGGCAGGACCCGGCGGCCCAGGG GAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG CAGGACCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A1_chr9_134636803_134849843	134657292	C C	CAGTTTAT others(347): Show CAGTTTATAGATAATATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAAT ATGGGGGCTGGGGTAGGGGGTGAAGTTTATAGATAATATGGGGGTGGGGT GGGGGTGTAGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTAT AGATAATATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAATATGGGGGT GGGGTGGGGGTGTAGTTTATAGATAATATGGGGGCTGGGGTAGGGGGTGA AGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAATA TGGGGGTGGGGTGGGGGTGTAGTTTATAGATAATATGGGGGTGGGGTGTA GGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 NA18950.hp1 others(1): Show HG00438.hp2 HG00673.hp1 NA18950.hp1 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0057 others(1): Show a0001c0001 a0001c0002 a0001c0057 a0005c0062	a0001c0001t0002 a0001c0002t0005 a0001c0057t0002 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0057t0002 a0005c0062t0011	a0001c0001t0002g0023 a0001c0002t0005g0025 a0001c0057t0002g0024 others(1): Show a0001c0001t0002g0023 a0001c0002t0005g0025 a0001c0057t0002g0024 a0005c0062t0011g0026	4	272	0.0147	354	c.109 others(373): Show c.109+15203_109+15204insGGTGTAGTTTATAGATAATATGGGGG CTGGGGTAGGGGGTGAAGTTTATAGATAATATGGGGGTGGGGTGGGGGTG TAGTTTATAGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAAT ATGGGGGTGGGGTGTAGGTGTAGTTTATAGATAATATGGGGGTGGGGTGT AGGTGTAGTTTATAGATAATATGGGGGCTGGGGTAGGGGGTGAAGTTTAT AGATAATATGGGGGTGGGGTGGGGGTGTAGTTTATAGATAATATGGGGGT GGGGTGGGGGTGTAGTTTATAGATAATATGGGGGTGGGGTGTAGGTGTAG TTTATAGATAATATGGGGGTGGGGTGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(347): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGA TCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGG GACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGA TCATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01074.hp2 others(6): Show HG00323.hp2 HG01074.hp1 HG01074.hp2 HG01258.hp1 HG01496.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03927.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0002c0008 a0020c0013 a0002c0002 a0002c0008 a0020c0013	a0002c0002t0004 a0002c0002t0008 a0002c0008t0004 others(1): Show a0002c0002t0004 a0002c0002t0008 a0002c0008t0004 a0020c0013t0004	a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 others(6): Show a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0051 a0002c0002t0008g0118 a0002c0008t0004g0032 a0020c0013t0004g0018	9	128	0.0703	354	c.177 others(371): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGAC GTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGAT TGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CTSD_chr11_1747755_1768927	1754500	G G	GGGGATGG others(347): Show GGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGGA GGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGG AGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGGATGGAGGGT CATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGAGG GGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAG GGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATG GAGGGGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGG ATGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	386	0.0026	354	c.828 others(369): Show c.828-363_828-362insTCCATCCCTCCATCCCCACATCCCTCTGTG ACTCTCCATGACCCTCCATCCCCTCCATCCCCTCATCCCTCTGTGACTCT TCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCC CCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCC CCACATCCCTCTGTGACTCTCCATGACCCTCCATCCCCTCCATCCCCTCA TCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCC TCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCACATCCCC TCCATCCCTCCATCCCTCCATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(347): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	416	0.0024	354	c.500 others(371): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar

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