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
CDON_chr11_125951821_126067866	126065034	A A	ATAGTATT others(585): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0303 a0002c0003t0011g0303	1	330	0.0030	592	c.-25 others(603): Show c.-2518_-2517insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2169		chr11	TogoVar
CDON_chr11_125951821_126067866	126065066	A A	ATAGTATT others(585): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0076 a0002c0012t0076	a0002c0012t0076g0253 a0002c0012t0076g0253	1	329	0.0030	592	c.-25 others(603): Show c.-2550_-2549insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2201		chr11	TogoVar
CDON_chr11_125951821_126067866	126065178	A A	ATAGTATT others(585): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0184	1	323	0.0031	592	c.-26 others(603): Show c.-2662_-2661insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2313		chr11	TogoVar
CFAP61_chr20_20047532_20365698	20355435	G G	GTAGTCAC others(585): Show GTAGTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGG GAGGGGGTCACACTGAGGGGAGGTAGTCACACTGTGAGGGGAGATGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGC AGAGATGGTCACACTGTGAGGGGAGGTGATCACACTGAGGGGAGGTAGTC ACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGGG GTCACACTGTGAGGGGGAAGGTGGTCACACTGTGAGAGGGGAGAAGGTCA CACTAAGGGGAGGTAGTCACACTGTGAGGGGAGGTGATCACACTAAGGGG AGGTGGTCACACTGTGAGAGGAGGTGGTCACACTGTGAGGGGAGGTCACA CTGAGGGGAGGTAGTGACACTATGAGCAGAGATGGTCACACTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0044 a0008c0016t0002g0044	1	138	0.0072	592	c.351 others(611): Show c.3514-4774_3514-4773insAGTCACACTGTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGC AGAGATGGTCACACTGTGAGGGGAGGGGGTCACACTGAGGGGAGGTAGTC ACACTGTGAGGGGAGATGGTCACACTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGTG ATCACACTGAGGGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACACTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGAT GGTCACACTGTGAGGGGAGGGGGTCACACTGTGAGGGGGAAGGTGGTCAC ACTGTGAGAGGGGAGAAGGTCACACTAAGGGGAGGTAGTCACACTGTGAG GGGAGGTGATCACACTAAGGGGAGGTGGTCACACTGTGAGAGGAGGTGGT CACACTGTGAGGGGAGGTCACACTGAGGGGAGGTAGTGACACTATGAGCA GAGATGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGA CACTGTGAGCAGAGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(585): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCC TCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTC TTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCC CCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCC CCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTC CTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0260 a0001c0002t0052g0260	1	2	0.5000	592	c.162 others(613): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCC TCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTT CCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCC TCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTC CTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(585): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	4	0.2500	592	c.267 others(609): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATCATATATATTCATATATATCATATATATTCAT ATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(585): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	298	0.0034	592	c.85- others(609): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02486.hp1 others(7): Show HG01192.hp2 HG01891.hp1 HG02486.hp1 HG02572.hp1 HG02897.hp2 HG06807.hp1 NA18948.hp2 NA18949.hp2 NA19030.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0046	10	283	0.0353	592	c.16 others(603): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAAT TTTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCATGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	274	0.0036	592	c.16 others(603): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCATGTGCCACCACGCTGGGCTAAT TTTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01175.hp2 HG01891.hp2 others(1): Show HG00621.hp1 HG01175.hp2 HG01891.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0002g0005	4	277	0.0144	592	c.16 others(603): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAAT TTTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
CROCC2_chr2_240901336_240998311	240924358	A A	AGTCCCCA others(585): Show AGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGC CCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCG GCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0001 a0028c0030t0001	a0028c0030t0001g0046 a0028c0030t0001g0046	1	208	0.0048	592	c.489 others(609): Show c.489-1365_489-1364insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCCACACTAACCCGGCCCCCA CACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCC CACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCC CCACACTAACCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924359	G G	GTCCCCAC others(585): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCC CCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0001 a0020c0029t0001	a0020c0029t0001g0032 a0020c0029t0001g0032	1	257	0.0039	592	c.489 others(609): Show c.489-1365_489-1364insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCC CACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924359	G G	GTCCCCAC others(585): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCACACTAACCCGGTCCCCACACTAACCCGGCCC CCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0034 a0015c0015t0001g0034	1	257	0.0039	592	c.489 others(609): Show c.489-1365_489-1364insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCG GTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCC CACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(585): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATTTATATATTATATGTATATTATGTATACATAATATATT ATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTAT ATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATAA TATATTATATATTATATGTATATTATGTATACATAATATATTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATATTATATATTATATGTATATTATGTATACATAATATTTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATAA TATATTATATATTATATGTATATTATGTATACATAATATTTATATATTAT ATGTATATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	85	0.0118	592	c.896 others(609): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAAATATTATGTATACATAATATACATATAATATA TAATATATTATGTATACATAATATACATATAATATATAATATATTATGTA TACATAATATACATATAATATATAATATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAAATATTATGTATACATAAT ATACATATAATATATAATATATTATGTATACATAATATACATATAATATA TAAATATTATGTATACATAATATACATATAATATATAATATATTATGTAT ACATAATATACATATAATATATAATATATTATGTATACATAATATACATA TAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
DCLK2_chr4_150073445_150262438	150251003	C C	CAACACCC others(585): Show CAACACCCCCACACACCCCCACACACCCCCCACACCCCCCACACCCCCAC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCAAATCCC CCACACCCCCCACATCTCCCCACACCACACATCCCTCACACCCCCCACAC CCCCCACACCACACATCCCTCACACCCCCCACACCACACATCCCTCACAC CCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACA CACCACACATCCCTCACACCCCCCACACCCCCACACCACACATCCCTCAC ACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCA CACACCACACATCCCTCACACCCCCCACACCCCCACACCACACATCCCTC ACACCCCCCACACCCCCACACCACACATCCCTCACACCCCCCACACCCCC CACACCACACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACCAC ACATCCCTCACACCCCCCACACCCCCACACCACACATCCCTCA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	105	0.0095	592	c.207 others(611): Show c.2073+1319_2073+1320insAACACCCCCACACACCCCCACACACC CCCCACACCCCCCACACCCCCACACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCA CACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCC CCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCACA CCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCCCA CACCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACCACACA TCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCA CACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCA CACCCCCCACACCCCCACACCACACATCCCTCACACCCCCCACACCCCCA CACCACACATCCCTCA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(585): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	325	0.0031	592	c.-42 others(603): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCG GGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2228116	G G	GGGAGGAA others(585): Show GGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGACGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGA GGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGATGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAG GGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	40	0.0250	592	c.805 others(609): Show c.805-6888_805-6887insTCCCTCCCTCCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCCTC CCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCATCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCGTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC ATCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTTCCCT CCCTCCCTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1464301	G G	GCACCCTT others(585): Show GCACCCTTCCAGAATGGCATCCTTCCAGGACGACACCCTTCCAGGACAGC TCCCTTCCAGGATGACACCCTTCCAGGATGGCTCCCTTCCAGGACGGCAC CTTTCCAGGACAACACCCTTCCAGGACGGCACCCTTCCGGGACGGCACCC TTCCAGGACAGCTCCTTTCCAGGACAACACCCTTCCAGGATAGCTTCCTT CCAGGGTAGCTCCCTTACAGGACAGCATCCTTCCAGGACAACACCCTTCC AGGACGGCACCCTTCCAGGACCGCACCCTTCCAGGACGGCACCCTTTTAG GACGACACTCTTCCAGGACAGCTCCCTTCCAGGACGGCTCCCTTCCAGGA CAACACCCTTCCAGGACGGCTCCCTTCCAGGACAGCAACCTTCTAGGACA ACACCCTTCCAGGACAGCACCCTTCCAGGACAGCTCCCTTCCAAGAAAGC ACCCGTCCAGGACAGCTCCCTTCCAGCACAGCTCCCTTCCAGGAAAGCAC CTGTCCAGGACAGCACCCTTCCAGGACAACACCCTTCCAGGACAGCACCC TTCCAGGACAGCTCCCTTCCAGGACGATACCCTTCCAGGACAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02258.hp1 others(3): Show HG01496.hp2 HG01891.hp2 HG02258.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0005 a0001c0003 a0002c0001 a0003c0005	a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 others(2): Show a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 others(3): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0002c0001t0005g0029 a0003c0005t0002g0030 a0003c0005t0004g0037	6	39	0.1538	592	c.107 others(611): Show c.107-37054_107-37053insAATGGCATCCTTCCAGGACGACACCC TTCCAGGACAGCTCCCTTCCAGGATGACACCCTTCCAGGATGGCTCCCTT CCAGGACGGCACCTTTCCAGGACAACACCCTTCCAGGACGGCACCCTTCC GGGACGGCACCCTTCCAGGACAGCTCCTTTCCAGGACAACACCCTTCCAG GATAGCTTCCTTCCAGGGTAGCTCCCTTACAGGACAGCATCCTTCCAGGA CAACACCCTTCCAGGACGGCACCCTTCCAGGACCGCACCCTTCCAGGACG GCACCCTTTTAGGACGACACTCTTCCAGGACAGCTCCCTTCCAGGACGGC TCCCTTCCAGGACAACACCCTTCCAGGACGGCTCCCTTCCAGGACAGCAA CCTTCTAGGACAACACCCTTCCAGGACAGCACCCTTCCAGGACAGCTCCC TTCCAAGAAAGCACCCGTCCAGGACAGCTCCCTTCCAGCACAGCTCCCTT CCAGGAAAGCACCTGTCCAGGACAGCACCCTTCCAGGACAACACCCTTCC AGGACAGCACCCTTCCAGGACAGCTCCCTTCCAGGACGATACCCTTCCAG GACAACACCCTTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(585): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGG TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	118	0.0085	592	c.441 others(611): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315794	A A	ACACACCC others(585): Show ACACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	121	0.0083	592	c.259 others(611): Show c.259+22222_259+22223insGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTG TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(585): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCTATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	129	0.0078	592	c.259 others(611): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(585): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18970.hp2 HG02071.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0002g0185 a0001c0001t0001g0187 a0001c0001t0002g0185	2	130	0.0154	592	c.259 others(611): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(585): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCTATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCCACAC CCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG02040.hp1 others(3): Show HG00323.hp1 HG00544.hp2 HG02040.hp1 HG02273.hp1 HG02698.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0002g0151 a0001c0001t0002g0152 others(3): Show a0001c0001t0001g0186 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0220	6	134	0.0448	592	c.259 others(611): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGA TGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EZH2_chr7_148802383_148889291	148869338	C C	CTTTTTTT others(585): Show CTTTTTTTTTTTTTTTTTTTTTGGAGACACAGTCTCACTCTGTCACACAG GCTGGAGTGCAGGGGTGCAAACACGGCTCACTGCAGTCTCTACCTTCTGG GCTCAAGCGACCCTCTCACCTCACTCTCCCATGCAGCTGGGACTACAGGC AAATGCCACCACATGTGGCTAATTTTTTGTAGAAATGGGGCCTCACTTTG TTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCA GCCGCTCAAAGTGCTGGGATTACTGGCGTGAGCCAATGCACTTGGCCATA AAAGCCCATTCTTCAAGGGCCCACTACCTGAGGGAACCTAGGCAAGTTAT TTACTAATTACTTCATCTGCAAAATGAAGACATCCTCTCTGCAGGCACAT ACATGGTAGATACTCAGTAAACACAAGTTGTTCCATTATTTATTCATCTC ATGCCAGCTAGGGAGAATCTTACCATCACCTGTGATGGTAATCAAACTCT CCAAAGAAATAGTTTGACCTGGGTAACAGAAACCAAGTGCTTAGAATCCT AGTATTTGCACTAAAAAGGACCCTATAGGCAGCAATAGCCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	101	0.0198	592	c.-8+ others(609): Show c.-8+14825_-8+14826insAAAGGCTATTGCTGCCTATAGGGTCCTT TTTAGTGCAAATACTAGGATTCTAAGCACTTGGTTTCTGTTACCCAGGTC AAACTATTTCTTTGGAGAGTTTGATTACCATCACAGGTGATGGTAAGATT CTCCCTAGCTGGCATGAGATGAATAAATAATGGAACAACTTGTGTTTACT GAGTATCTACCATGTATGTGCCTGCAGAGAGGATGTCTTCATTTTGCAGA TGAAGTAATTAGTAAATAACTTGCCTAGGTTCCCTCAGGTAGTGGGCCCT TGAAGAATGGGCTTTTATGGCCAAGTGCATTGGCTCACGCCAGTAATCCC AGCACTTTGAGCGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCAA GACCAGCCTGGACAACAAAGTGAGGCCCCATTTCTACAAAAAATTAGCCA CATGTGGTGGCATTTGCCTGTAGTCCCAGCTGCATGGGAGAGTGAGGTGA GAGGGTCGCTTGAGCCCAGAAGGTAGAGACTGCAGTGAGCCGTGTTTGCA CCCCTGCACTCCAGCCTGTGTGACAGAGTGAGACTGTGTCTCCAAAAAAA AAAAAAAAAAAAAA	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(585): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0079 a0004c0011t0003g0079	1	188	0.0053	592	c.571 others(609): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCT TGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAG AATCACCTGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FAM53A_chr4_1634887_1689313	1671391	T T	TCACAGCC others(585): Show TCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCAGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCC ACCGTCAGAGCCCCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCATCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCC CGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	347	0.0029	592	c.-16 others(611): Show c.-164-2487_-164-2486insGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGATGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGC TGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCTGGGCCGTGGC TGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGC CGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGT CCGGGCCGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(585): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0003 a0005c0034t0003	a0005c0034t0003g0003 a0005c0034t0003g0003	1	146	0.0068	592	c.193 others(611): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATAACTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGAAAG others(585): Show AGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGG GAAAGAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGCCGGGGGG GGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGG AATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0120	1	248	0.0040	592	c.157 others(607): Show c.1576+12_1576+13insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGGGGGGGAAAGAGGAGGAGAGGGGGGACCACAGGGAGGTG AAAGGTGGCCGGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTAGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCGGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAK_chr4_844277_937316	927089	G G	GCACTGCC others(585): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTC ACCTGCGCTCCGCACTGCCCCGCAACCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCGGCAACCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCAC TGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCC TCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCT GCGCTCCGCACTGCCCCGCAACCCTCCCCGCTCACCTGCGCTCCGCACTG CCCGGCAACCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTC CCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGC GGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01192.hp2 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0008 a0001c0001t0001g0013	2	167	0.0120	592	c.145 others(609): Show c.145+4953_145+4954insGGGACTGCAGGTGAGCGGGGAGGGGTGC GAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGTTGCCGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGTTGCGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTGGGGACTGCAGGTGAGCGGGGAGGGGTGCGAGG CAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGA GGGTTGCCGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGTTGCGGGGCA GTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGCGCAG GTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGG GGTGCGGGGCAGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927163	G G	GCACTGCC others(585): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCA CCCCTTCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTC ACCTGCGCTCCGCACTGCCCCGCACCCCTTCCCGCTCACCTGCGCTCCGC ACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACC CCTTCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCAC CTGCGCTCCGCACTGCCCCGCACCCCTTCCCGCTCACCTGCAGTCCGCAC TGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCC TCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCT GCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTC CCAGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGC AGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	385	0.0026	592	c.145 others(609): Show c.145+4879_145+4880insGGGACTGCAGGTGAGCGGGGAGGGGTGC GAGGCAGTGGGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGAAGGGGTGCGGGG CAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGC AGGTGAGCGGGAAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGA GGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGAAGGGGTGCGGGGCA GTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAG GTGAGCGGGAAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGG GGTGCGGGGCAGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805669	A A	ACCCTCCC others(585): Show ACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCCGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	204	0.0049	592	c.15 others(603): Show c.1503_*1504insCCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACGTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1383		chr2	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02486.hp2 others(6): Show HG01192.hp1 HG01891.hp1 HG02486.hp2 HG02572.hp1 HG06807.hp1 NA18948.hp1 NA18949.hp2 NA19030.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0002	a0001c0001t0003g0017 a0001c0001t0003g0045 a0001c0001t0003g0075 others(6): Show a0001c0001t0003g0017 a0001c0001t0003g0045 a0001c0001t0003g0075 a0001c0001t0003g0166 a0001c0001t0007g0072 a0001c0001t0008g0136 a0001c0001t0011g0011 a0001c0002t0002g0002 a0001c0002t0002g0006	9	263	0.0342	592	c.-43 others(603): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAAT TTTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCATGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0015 a0001c0001t0017g0015	1	255	0.0039	592	c.-43 others(603): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCATGTGCCACCACGCTGGGCTAAT TTTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(585): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCA ACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG01891.hp2 others(1): Show HG00621.hp2 HG01175.hp1 HG01891.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0001t0005g0007	4	258	0.0155	592	c.-43 others(603): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTTATTTTTT TTTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGA TCTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCA GCCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAAT TTTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(585): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	82	0.0122	592	c.341 others(607): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	323689	T T	TGTGTGTG others(585): Show TGTGTGTGTGTGTAGCCGTCAATCTGGGCTCCTGGGTTCCGTCTGCCCTG TTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCT CCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGC GTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCT GTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGT TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGC TCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCA GGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCA TAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0023 a0008c0008t0001g0023	1	153	0.0065	592	c.-49 others(603): Show c.-4903_-4902insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACACACACGTCCCTGAG CTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGG AACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACAC ACACACACAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTAC ACACACACACACACACACACACACACACACACACGTCCCTGAGCTCACCA CCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAG GAGCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACA CACACACACAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCTGT CTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGATTGACGGCTACAC ACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4894		chrX	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(585): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTC CCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	11	0.0909	592	c.10- others(609): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC TCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCT CCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(585): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0264 a0002c0002t0002g0264	1	5	0.2000	592	c.-41 others(607): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCC ACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA0930_chr22_45187244_45245894	45229292	C C	CCACTCAC others(585): Show CCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTC CACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCG AAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCC TCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCC CCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCA CCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCTGAAAGATCCC TCTCCACATCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCC ACCACTAAACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCA AACACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACCAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0013 a0001c0001t0072g0013	1	233	0.0043	592	c.64+ others(609): Show c.64+11347_64+11348insTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGGG TGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTG GTGGGGATGTGGAGAGGGATCTTTCAGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGATGGGGAGGGAT CTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAG TGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTG AGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGATGGGGAGGGAT CTTTCGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(585): Show ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	104	0.0096	592	c.174 others(611): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATTTATTTATTT ATATATATTTATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(585): Show ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0003 a0001c0001t0039g0003	1	104	0.0096	592	c.174 others(611): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATTTATTTATTT ATATATATTTATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(585): Show ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	104	0.0096	592	c.174 others(611): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATTTATTTATTT ATATATATTTATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(585): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	1	354	0.0028	592	c.-27 others(603): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LINGO2_chr9_27932617_29218601	28189485	A A	AAGGAAGG others(585): Show AAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGG AAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAA GGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02572.hp2 NA18995.hp1 others(1): Show HG00438.hp1 HG02572.hp2 NA18995.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031	a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0003g0024 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0003g0024 a0001c0001t0031g0020	4	53	0.0755	592	c.-36 others(613): Show c.-36+105722_-36+105723insCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCT TCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCTCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28189537	G G	GAGGAAGG others(585): Show GAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG GAGGAAGGAAGGAAGTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAGGAA GGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGA GGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGG AAGGGAGGAAGAAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGA GGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0061 a0001c0001t0034g0061	1	17	0.0588	592	c.-36 others(613): Show c.-36+105670_-36+105671insTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTC CTTCCTTTCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTTCCTCCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCACTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCACTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC TTCCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCGC others(585): Show ACACCCGCGCTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTT ACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	252	0.0040	592	c.129 others(609): Show c.1290-974_1290-973insGCGCTTACACCCACACTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCC GCGCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCGCGC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGTAGA others(585): Show TATGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGCATGTAGATATACATCTACATACATACA CAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCATG TAGATATACATCTACATACATACACAATGTATGCATGTAGATATACATCT ACATACATACACAATGTATGCATGTAGATATACATCTACATACATACACA ATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCATGTA GATATACATCTACATACATACACAATGTATGCATGTAGATATACATCTAC ATACATACACAATGTATGCATGTAGATATACATCTACATACATACACAAT GTATGCATGTAGATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0130 a0011c0011t0003g0130	1	37	0.0270	592	c.-49 others(611): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCAT ACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGT ATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTATA TCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCATAC ATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGTAT GTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTATATC TACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCATACAT TGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGT AGATGTATATCTACAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(585): Show TATATATATTCATATATATAGATTCATATATATATTCATATATATATATT CATATATAGATTCATATATATATTCATATATAGATTCATATATATTCATA TATAGATTCATATATATTCATATATAGATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATTCATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	155	0.0065	592	c.343 others(609): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAATATATAT ATGAATCTATATATGAATATATATATATGAATATATATATGAATCTATAT ATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(585): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCA TCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATC CATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCA CCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01346.hp1 others(7): Show HG00280.hp1 HG01106.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG02280.hp1 HG02970.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0009c0019 a0001c0001 a0001c0003 a0009c0019	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0019 a0009c0019t0001	a0001c0001t0002g0022 a0001c0001t0002g0167 a0001c0001t0003g0054 others(5): Show a0001c0001t0002g0022 a0001c0001t0002g0167 a0001c0001t0003g0054 a0001c0001t0003g0168 a0001c0003t0002g0132 a0001c0003t0019g0159 a0001c0003t0019g0166 a0009c0019t0001g0053	10	200	0.0500	592	c.55 others(603): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAACAG GTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(585): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCA CCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACC CATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCA TCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01358.hp1 HG02818.hp2 others(1): Show HG00099.hp2 HG01358.hp1 HG02818.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0228 a0001c0001t0003g0032 a0001c0001t0007g0020 others(1): Show a0001c0001t0001g0228 a0001c0001t0003g0032 a0001c0001t0007g0020 a0001c0001t0007g0034	4	194	0.0206	592	c.55 others(603): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGCATGG ATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGTGAGT GAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGAATGG GTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGTTGGT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAACAG GTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar

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