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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNTG2_chr2_945849_1372613	1106586	CAGTGGAC others(721): Show CAGTGGACACGTGCTGTCACTTGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACACGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGATGCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCT TGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTGGTAAG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0083 others(2): Show a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	5	137	0.0365	-728	c.325 others(17): Show c.325+8197_325+8924del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107773	CCTTGGTA others(721): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCT GTCACTCGGGTGCAGGGTATGGAGAGCTG	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02132.hp1 HG02683.hp1 others(5): Show HG01256.hp2 HG02132.hp1 HG02683.hp1 HG03239.hp1 HG03490.hp1 HG03942.hp1 NA18990.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0022 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0002c0022t0001 a0003c0008t0001	a0001c0001t0001g0038 a0001c0002t0001g0016 a0001c0002t0001g0092 others(5): Show a0001c0001t0001g0038 a0001c0002t0001g0016 a0001c0002t0001g0092 a0001c0002t0001g0186 a0002c0005t0001g0133 a0002c0022t0001g0155 a0003c0008t0001g0011 a0003c0008t0001g0132	8	154	0.0519	-728	c.325 others(18): Show c.325+9363_325+10090del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16						chr2	TogoVar
SNTG2_chr2_945849_1372613	1107877	GCTTGGTA others(721): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCT GTCACTCGGGTGCAGGGTATGGAGAGCTG	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	112	0.0089	-728	c.325 others(18): Show c.325+9675_325+10402del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108085	CCTTGGTA others(721): Show CCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCT GTCACTCGGGTGCAGGGTATGGAGAGCTG	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0098 a0002c0003t0001g0098	1	126	0.0079	-728	c.325 others(18): Show c.325+9675_325+10402del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16						chr2	TogoVar
TPPP_chr5_654862_698352	691711	CAATAGCC others(721): Show CAATAGCCCCCAACCCCCATCAAAACAGCAGCCCCCAACCCCCATCAAAA CAGCAGCCCCCAAATACCCATCAAAACAGCCCCCAACCCTCATCAAAACA GCAGCCCTCAACCCCCATCAAAACAGCAGCCCTCAACCCCCATCAAAACA GCAGCCCCCTAAACCCCCATCAAAACAGCAGCCCCCCAAACCCCCATCAA GACAACAGCCCCCCCAACCCGTATCAAAACAGCAGCCCCCAACCCCTCAT CAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCCCCAACCCCTA TCAAAACAGCAGCCTCCCAACCCCTATCAAAACAGCAGCCCCCAACCCCC TATCAAAACAGCAGCCCCCCTAAGCCCCCATCAAGACAGCAGCCTCCCAA CCCCACATCAAAACAGCAGCCCCCCAGACCCCATCAAAACAGCAGCCCCC AACCACCTATCAAAACAGCAGCCCCCAACCCCTATCAAAACAGCAGCCCC CCAACCCCCTATCAAAACAGTAGCCTCCCAACCACCTATCAAAACAGCAG CCTCCCAACCCCCTATCAAAACAGCAGCCCCCAAACCCCTATCAAAACTG CAGCTCCCAACCCCCTATCAAAACAGCAGTCCCCCAACCCTATCAAAACA GCAGCCCTCCAACCCCCTATCAAAACAGCAGCCCCCCAAACCCCTATCAA AACAGCAGCCCCCAACCCCGTATCAAAAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0367 a0001c0001t0090g0367	1	408	0.0025	-728	c.-5+ others(14): Show c.-5+839_-5+1566del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3						chr5	TogoVar
ZMYND15_chr17_4734833_4751113	4737312	TCACACCT others(721): Show TCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCT GAGGTCAGGAGTTTGAGACCAGCCTGACCAACACGGTGAAACCCCATCTC TACTAAAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAAT CCCAGCTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGC GGAGGCTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAG AGCAAGACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAA GAAATAAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAA TAAAGCAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATG TTTATGTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTA GGTGGAGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATG TGTAAATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGG TGGCTCACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATC ACAAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAAATTAGCCAGGCTTGGTGGTGCGCGCCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01070.hp2 others(5): Show HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01175.hp2 HG01952.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0001g0004 a0001c0001t0002g0013 a0001c0001t0002g0015	8	456	0.0175	-728	c.-27 others(11): Show c.-2768_-2041del		ZMYND15	ENSG00000141497.14	transcript	ENST00000433935.6	protein_coding					2520		chr17	TogoVar
LUC7L_chr16_183990_234449	186441	GGGGAACA others(720): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	325	0.0031	-727	c.20 others(11): Show c.2030_*2756del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2548		chr16	TogoVar
BOK_chr2_241553745_241579131	241563806	GGGGTGAC others(719): Show GGGGTGACCCTCAGAGCCAGGGGTCTTCAGATGGCCTCGGGACCTCCACC CACCGGAGGGCAAGGGGAAGAGGCCAGGAGTGTGAGGACCACTGCCTCTC GCTCAGGCAGACCCCACCTTTGTGGGGTGTCCTCCAGCTCCTCTCCCAGA CGTCTCCTCCGACCCCTGGTGGGCCAGCCAGATGGGGACAGAGCGGGGCT GACACCCTCGGCTGGAGGCCAAGGCGGCGGGGGCTGCGAGCATTTTCTGA CAGAATCCGGCCTCTCCAGTGCCACGCTTGCTCACTGCTGACCTCCCTGG ACAGAAGTTACTGTGGCTGGGATGCAGCGGCGACCTGGCAGGCTGCTGGA GCGGGAAGGCTGAGTCCAGGGATGGGAGTCCAGGCGGGGTCTGGTCCTGC CTCCGGGCTTGTCTTGTTGCCACAGCATGTGCTGGAGTGCCTCAGACCAC ACCTGGGGAGGGGCAGTGACCTCAGGCTGTGGTGTGGGGTCAGGAGGCGG AACCAAGCTGGGTGCGGGCGAGACTCCCTGTCTGGCGCTCCTGGGGTGGC CTCAGAGCCTGGACTCTGTCACTGCTCCTGTGTTCCTTTGGGAGATCGTA AATGAATCCTCATTGGCAGTTTGGCTCCAAGGCCCCCACGTGGCAGCTGA GGGTGGGGGGCCGGGCCCAGGCCAGGCTGAGGCGTGTCATGGGGCAGACC TGAGTCGGCTGGGGGTGCATATGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	432	0.0069	-726	c.349 others(17): Show c.349+1334_349+2059del		BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
BTBD9_chr6_38163451_38644929	38429220	TGAGGCAG others(719): Show TGAGGCAGACGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAA CATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGG TGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCGAGATCGCACCATCGC ACTCCAGCCTGGGTGACAAGAGCAAGACTACGTCTCAAAAAAAAAAAAAA AAGAAAGAAAAACGGATTTGAATATAATTTTACCACCCTATTGAGCACCT TGCACACATACGTACTTAAATGTTAACCTATCCTTCCTCTTATTTGCAAA ACGTCATAAGAAACTCCATCAAATACTTGGCTAAAATCAAGTTACACTGC ATCTACAGTGTTGCTCCAATTTTCCAACAATAAAACCCTAAAGGAAAATC TATTTCGGAATGACTTATTTTCAGAAAATTCAAGTTGGTTACTAGTGTTA CGCATTTTTTCTCAAATGCTCAGAAACTATCAGGTTAATTGCTAGTTCTA GAATGACTGCCAGGGACAAAAGCCAAGCCTCTTTGCATAGAGAATTTCTC CTTTTGGGGGAAAAACAATCACATATAATATTAGGCTTCTTGCTAAAAAT TATGCTGAATGAAAATTCCAAAATCAGATCTGAAAGTTCTCTGAGCTTCC TGGGATGTAATTCAGCAGAACCTAGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0101 a0001c0001t0100 a0001c0001t0101	a0001c0001t0100g0142 a0001c0001t0101g0013 a0001c0001t0100g0142 a0001c0001t0101g0013	2	222	0.0090	-726	c.115 others(21): Show c.1155-84853_1155-84128del		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
CERS6_chr2_168451272_168780134	168607057	CAGTCATT others(719): Show CAGTCATTTCTTTATAGCAATGCAAGAATGGACTATTACAATGGGTTTTT ACATTTTTAAATGGTTATATTTTACATTTTTAAATGGTTTTTACATTTTT AAATGGTTATATAAACACTTACATAATATCCTTAGTTTTTCTTCTTGGTG CACAAATCCTAAAATGTTTACTAACTGGCCTTCTAGAAAAAATTTACTAA CCCTTGGTATAGGGAATAATGTTGCAACATCTTTCCTTACTTTGATTATA AGAGATAATTCATTACTTTTTAAAAAAACTCTTTTAAGTTACTCTTCCCA GTAATCAAAACTAGTATATCTTTTTTTTGTTTGTTTATTTGTTTGAGACG GAGTCTTGCTCTGTTGCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCA CTGCAACCTCCAACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGACACATGCCACTATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGATCTCGATCT CCTGATCTTGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGTGCCAGGCCAAAACTAGTATATCTTAATAGAAATGT TTTATGTTTTTGCAGTCTTTTCAGGGGTTAATAAAGAAAGTATAAAAGGT TTGCTGCAAAATTTTAAATCAATCAGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	174	0.0057	-726	c.408 others(19): Show c.408-23920_408-23195del		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIK4_chr11_120506748_120993906	120516931	TGGGCAGC others(719): Show TGGGCAGCAGCCACTGTCTAGTCTTGTGCAGGAACAGGCCTGGGGCGCGT GCTGCCGGGGGCCAGCTTAAGGCATCTCGCGTGCCTCAGTCTCACCTCCC CAGCCTCCTGCCAGCCCTCGCCGCCCTCCCTCCACGGTACCCTCGTGTCT GATATTCACTGCCCTGGAAGTTCCTCCGTCTGTGCCTGTCACCGCCGGGG ACCGAGCGTGGAGCTGCCATCCAAATGGGCAGGGCCTTGTCCGCTTTGTT CACTGAGCTATCCCTAGTGCTTGCATAGAACAGGTGTTAAGTCAATATTT GTCCCATTTAAGGGACCTCAACTCATGTTTAACAGACACTTGTTACAGAG ATAAATTCAGAGGCTGTGGAGGGTGAAGAGCAGCCAGAGGGGCTGTGTGG CCTTAGGCTTCCGGGAATGGGGTGTCCCAGGCTCCTTGGTGCGATCCTCT CCTGTCCTCAGTGTCCAGCCTCTTGGTGCCCGCTTGTGTTGTCAAAGTGA GGCTGGCATCGTTTGCCCCAGGGAGGCCATGGGCAGGCCCCCTGAGGCAA ACGGTGCCCCCGCCTGTGCACCCCTGACTTCCGCCTAAAGTTGGAGAGCA GGGAGACCCAAGTGGTGAGGGTGATAGCTGTGCTACGCTGCGGGGTGTTG GGAGAGAGGACGCAGATGCCTGAGTGCTGAGTCACAGTGGGCATCTCGGG AAGGGGACAGCTGGGAAATAGAAGGCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02451.hp1 others(13): Show HG01109.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp1 NA19043.hp1 NA20300.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0004c0011 a0008c0019	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0006t0005 a0001c0009t0012 a0004c0011t0023 a0008c0019t0022	a0001c0001t0002g0013 a0001c0001t0006g0009 a0001c0002t0001g0006 others(13): Show a0001c0001t0002g0013 a0001c0001t0006g0009 a0001c0002t0001g0006 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0004g0015 a0001c0002t0005g0010 a0001c0002t0008g0003 a0001c0002t0012g0001 a0001c0003t0001g0005 a0001c0003t0002g0012 a0001c0006t0005g0004 a0001c0006t0005g0016 a0001c0009t0012g0002 a0004c0011t0023g0007 a0008c0019t0022g0014	16	126	0.1270	-726	c.-15 others(19): Show c.-159+5049_-159+5774del		GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC8A_chr9_128877133_128923039	128893819	ATATAGTT others(719): Show ATATAGTTCTGTGCATAGCTTTCTAAATTCTTTTCTGTACACAGTAATGA GTTTGTTATTGATATAATTTTATTTTTTGAGACAGAGTCTCACTCTGTCA CCCAGGCAGGAGTACAGCAGCACAGATTCGGCCCACTGCAACCTGCGCCT CCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACTA CAGTTGTGTGCTACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGT AATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCA CCGTGCCCAGCCATCATTCTTGTTTTAAAAAATTGCCAGGCATGGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACAAG GTCAGTAGATCGAGATCATCCTGGTTAACACGATGAAACCCCGTCTGTAC TAAAAATACAAAAAAATTTGCCGGGCATTGTGGTGGGTGCCTATAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGA GCTTGCAGTGAGCAGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGA GTGAGACTCCATCTCAAAAAAAAAAAAATTATACCAGTAACAGACCAGGT ACAGTGGCTGACACCTGTAATCCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0138 a0001c0002t0015g0138	1	342	0.0029	-726	c.-9+ others(15): Show c.-9+7699_-9+8424del		LRRC8A	ENSG00000136802.12	transcript	ENST00000372600.9	protein_coding	2/3						chr9	TogoVar
RSPO2_chr8_107894316_108088620	108049013	ATTGCACT others(719): Show ATTGCACTGTGGTCTGAGAGACAGTTTGTTGTGATTTCTGTTCTTTTACA TTTGCTGAGAAGTACTTTACTTCTGAGGCCTGTCGGAGGGTGGGGAACTG GGGGACGGATAGCATTAGGAGAAATACCTAATGTAAATGATGAGTTGATG GGTGCAGCAAACCAACATGGCACACGTATACCTATGTATCAAACCTGCAC GTTCTGCACATGTACCCTAGAACTTAAAGTATAATAAAAGAATAAAATAA ATAAAATAACATCAGCCCAACCACACGATATATTCATTTTCATCTACCTG GAATCTTAGCTTTCCAAAATGACCCTTGTTTTTTGGCTGGGACTTTTTTT TCTTTTTTTAAAGAATACATGCATCTTTTTTAAAAAAAAATTACTTTAGA TTCTGGGATACATGTGCAGAACATGCAGGTTTGTTACATAGGTCTACATG TGCCATGGTGGTTTGCTGCACCTATTAACCCATTATCTAGGTTTTAAGCC CCGCAGGCATTAGGTATTTGTCCTCATGCTCTCCCTCCCCTTGCCCCCAC ACTGACAGGCCCCAGTATGTGATGTTCCCCCCTTCCTGTGTCCATGTGTT CTCATTATTCAACTCCCACTTATGGGTGAGAACATGCGGTGTTTGGTTTT CTGTTCCTGTGTTAATTTGCTGAGAATGATGGTTTCCAGGTTCATCCATG TCCCTGCAAAGGACATGAACTCATTCT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0215 a0001c0001t0020g0215	1	238	0.0042	-726	c.94+ others(17): Show c.94+32806_94+33531del		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
SATL1_chrX_85087284_85248779	85107920	CCTGGTTG others(719): Show CCTGGTTGGCTTATGCTTGCTTCACTCAGGACTAGTTCGCTCAGGCTTTG TGGCCACATGCCTGGTTGGCTCCTACCTAATTGCCATGTGCCTGGTTGTT TCATGCCAGGTTGGTTTATGTCTGGTAGGTTTGTACCTGATTGCCTCATG CCAGCTTGGCTCATGCTTGGTTGTTTCATGTCCACTTGGTTCATTTCATA TAGGCTTGCACTCCATTGGTTCATGTCCATTTGGTTCATACCAAGTAAGC TTGGGCTTGGCTGGATTATACCTGTTTGGTTGGAATCTGATAAACTTGAT TGGTTTGCGTCTGGTTGGCTCATGTCTGTTTGGTTCTTACATGATTGGCT AGTGTCTGGTTGCCTTATGCCTGGTTGGCTGGGGACTTGCTGGCTCATGC CTGGTTGACTCATGTCTGGGTGGCTTGGGACTTGCTGGCTGATGCCTGGT TGTTGCACGCCTGGTTGCCACATGCCTGGTGGACTCATGTTTGGTTGCCT CAGGACTGGTTGGCTCAGTCCTGTTTGCCATGTGCCTGGTTGGCTCATGC CTATTTGGCTTGTGCCTAATTGGCTGGTGCCTACTTGTCTCATGCTTGGT TGGCTCCCACCTGACTGGCTGTCTAGTTGCTGCATCACTGGTTGGCTCAT ACCTGATTGGTTCGTGCCTATTTGCCTCATGCGTGATTGGCTGGGGCCTG ATTGGCTTGGGCCTGGTTGCGATGGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0082 a0005c0009t0001g0082	1	230	0.0043	-726	c.323 others(8): Show c.323_1048del	p.Asp others(13): Show p.Asp108_Pro349del	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	3/8	1674/2821	323/2088	108/695			chrX	TogoVar
SNTG2_chr2_945849_1372613	1108049	CACGTGCT others(719): Show CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTG GACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAG TGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAAT AGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTA AGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGG TAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTT GGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGC TTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCT CCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGGTAAGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01257.hp2 others(3): Show HG00735.hp2 HG01074.hp2 HG01257.hp2 HG02280.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0002c0003 a0003c0008 others(2): Show a0001c0001 a0002c0003 a0003c0008 a0007c0016 a0011c0020	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0007c0016t0001 a0011c0020t0001	a0001c0001t0001g0056 a0002c0003t0001g0183 a0003c0008t0001g0059 others(3): Show a0001c0001t0001g0056 a0002c0003t0001g0183 a0003c0008t0001g0059 a0007c0016t0001g0032 a0011c0020t0001g0110 a0011c0020t0001g0115	6	188	0.0319	-726	c.325 others(18): Show c.325+9642_325+10367del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIP13_chr5_887884_923120	897873	GCAGTCAG others(719): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 NA19240.hp2 HG01891.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	3	288	0.0104	-726	c.388 others(17): Show c.388+1211_389-1764del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898467	TCAGTCAG others(719): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	383	0.0026	-726	c.388 others(17): Show c.388+1739_389-1236del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP21_chr10_24578614_24728887	24656213	GGGGGGGT others(718): Show GGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGAG GCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTG GCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTA CTGTGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02717.hp1 others(3): Show HG02486.hp1 HG02559.hp1 HG02717.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169	6	350	0.0171	-725	c.268 others(19): Show c.268+10047_268+10771del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
CROCC2_chr2_240901336_240998311	240907968	CGGGTGAC others(718): Show CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CAGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGGGTGAGCTCTACCTCCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 NA19064.hp1 others(4): Show HG00423.hp1 HG00609.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19080.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0021	a0001c0001 a0002c0002 a0002c0068 others(2): Show a0001c0001 a0002c0002 a0002c0068 a0006c0006 a0021c0018	a0001c0001t0001 a0002c0002t0001 a0002c0068t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0068t0001 a0006c0006t0003 a0021c0018t0001	a0001c0001t0001g0122 a0002c0002t0001g0123 a0002c0068t0001g0118 others(4): Show a0001c0001t0001g0122 a0002c0002t0001g0123 a0002c0068t0001g0118 a0006c0006t0003g0119 a0006c0006t0003g0120 a0006c0006t0003g0121 a0021c0018t0001g0117	7	247	0.0283	-725	c.78+ others(15): Show c.78+1402_78+2126del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DENND5B_chr12_31377226_31596136	31570462	AGAGACAG others(718): Show AGAGACAGGGTTTTACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACTGCACCCAGCCAAAATTCTCTTTAAAAAAAAAAAAAAAGTTTTCTT TTTTTAGGAGTTTGGTTTCATTTACTCAAAAAGATTTTAGTAATTTTTTT TGGCACTGTCATTATTAACAAAAATCATATTCATTTTCAGTAAATTGATA GGTTTAAAGAAAATGAGAAATGCACATCTGTCCTTGCAGAAGTTTTCCCA ATTACTGTGTAACTGTCCCTTCTTAGGTTATACCTTCTTAGGTTATCTCA AGGTCTTTGGTTGGTTGATTGGTCTAAACATTTGAAACTCACAGGTAGGT TTTGGCAGGAAACTCATTTACAGAAAGGGTGAGAAATGTTACCTCCCTTA CAGCAACACAAACTGGGAATTTTAAAAGCAACAAAAGCCAAAACATAATA AGACAATCAAAAGATTGTCCCTGTTATCATTCTGCTGCATGAAAAGGGAA ACTGCAAGCATTCTCCGCATTCTCGGCTGCAAGTGCCAGCACTGATCATG AAATGTTTACATAGCCCTTACTATGGGAGACAGGAAAGGAGCTGTGAAGG ACAAGTGTCAGATCTGCTGCTGCTGCTTCAAGACTCAGCCTCCCTGAAAC ATCACTCTTTCTTAGCAACCTGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0051 a0001c0012t0051	a0001c0012t0051g0069 a0001c0012t0051g0069	1	306	0.0033	-725	c.127 others(19): Show c.127+19519_127+20243del		DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20						chr12	TogoVar
GHITM_chr10_84134509_84158568	84157843	TGGTGAAG others(718): Show TGGTGAAGGATCACTTTTATTTTTCTGAGACCGAAGTGCTGGGATTACAG GCATGAGCCACCACACTCAGTCAAGGATCACTTTCTAGCTTGTAGATGGC AGCCTTCTTGCTGTGTCCTCACATGGTGGGGTTGGGGGAAGAAGAGAGAA GGCCCAGTTACGTACTTTTAAGTATGCAGGCTGAACGGACTGAGGTCAGC AACACAGAATGACCCCCAAACAGGAATATAAATGGAAGTTAAGAAAGGGC ACGTTACTGGTTTGGTATGATCTGTTAGTAGAGTTAGGGATTTAATAGGT TCATTCCATTTGGTACACCTTGAGGGAATGAACTGTTAGCACCAGCTGTG GGGAAACACAAGGATGAATGGCTGGAAACCCATCATTCTAGAAGACAGCA TCCAATGAGCAGTGGGAGTGGGTAGTTGCTAGGAGGATCTAATTCTAGAG AGAGAAGGCAGTGCTGGAGGCAGAAGCCTTTACTGTGGGTGGGGAATGTT AATCATTAGAAGCCACTGTTTTAAGAGATTAAATCAACATTTATTAGACA CTCTAAAGTAGTACGAGAGTAGTTAAATGATAAGAAATAGCAACACACTT CAATGATTCAAGGTAATTATAAAATCATTATCCAGAAATTACAAGAGGTT TATTCAGACTAATTGCCACCGGAGTTCAGAGGACGGAAGCAAATATGAGG AGTGCATATAGGGACATTTGAGTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-725	c.54 others(11): Show c.5496_*6220del		GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding					4276		chr10	TogoVar
PPP1R12C_chr19_55085918_55122637	55093345	GACCCCAG others(718): Show GACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTC CCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0051 a0001c0016t0001g0051	1	385	0.0026	-725	c.168 others(17): Show c.1683+275_1684-113del		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21						chr19	TogoVar
SERPINF2_chr17_1737871_1760265	1751381	AGAGGTTG others(718): Show AGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGACAAT AAGAGTGAAACTCTGTCTTGAAAAAAAAAAAAAAAGAGGCTGGGTGTGGT TTACAGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTG GATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTTCTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCT GTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCGTGAATCCAC GAGGCGGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGG GCGACAGTGCGAGACTCCAACTCAAAAGAAAAGAAAAAAAAAGAAATCTT AAGCCAAATCACAATATATTTACACAGCTGGCAAAGTCACAAGAGGGAGG TGTGGGAGGGTGGGGCGGGCAGCACTCGGCAGTGGCTCACCCACAGAACC CAGCTGTGGTATGACAGCCAGTGACCCTGTCTGTGGTACATCTGGAGAAG CTGAGACAAAGACAGGCGATTCCTTACGCCGGGTCACACGGCCAGCTGGT AGCCGGTGAAGAGAGAAAACCACCAGGTATTATTGAGCACCGTCTGTGAC AGCGGACACTGCTACAATGTTGTTTTTTTTCTTTTTTTGAGACGGATTTT TACTCCTGTCCCCCAGGCTGGAGTGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(115): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03041.hp1 HG03491.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0001 a0001c0005 a0001c0011 others(3): Show a0001c0001 a0001c0005 a0001c0011 a0004c0004 a0006c0008 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0005t0002 a0001c0005t0003 a0001c0011t0002 a0004c0004t0002 a0006c0008t0002 a0008c0010t0001	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(44): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0046 a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0005g0008 a0001c0001t0013g0003 a0001c0001t0014g0013 a0001c0001t0015g0003 a0001c0005t0002g0010 a0001c0005t0002g0129 a0001c0005t0003g0010 a0001c0011t0002g0008 a0004c0004t0002g0065 a0006c0008t0002g0010 a0006c0008t0002g0141 a0008c0010t0001g0003	118	444	0.2658	-725	c.859 others(16): Show c.859-1204_859-480del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding	8/9						chr17	TogoVar
SNX9_chr6_157818246_157950077	157925242	TGTAGAAA others(718): Show TGTAGAAAAGTACCTAATCTCATTAGCAATCAATAAATACACATTAAAAC CACAATAAGATGCCACTACACACGTGCCAGAATGGCTAAAACTGACCATA CCAAGTGTCATCTTGGTGAGGTGAGATGCTGCTGGGATTCATAACGTGTT GGGGGAAAATGGTAAGACTAATTTGGAAAAGTTTGGCATTTACTGAAGTT GAACCCTCTCATATGACCTGGCATTTCCACTCCTGGATATGTACTGAATA GAAATGCAGGCACACAGACACCAGGAGACATCTACATAACAGCTTCATTC ATAACTTGATAAGGGTGGCTACCAGTAGTAGAATAGATAAATAAATTGGG GATTACTCATAAAGTAGAATATTATACAGCAATGAAATGAATGAACTGTA GTTCTACACAAGATTTTGACTGTAGTTCCTAAGCAAGATTGAGCAAAAGA AGCCAGGCACCAAAGAACGCATTTATAGGGCTCTTTGCTAGCTTGAAAAA CTAGCAGGACAGGGTAGCATGCATGCGTAGGTGGTAAAACTCTAAACAAA GTGTCTGAGTCCATTTGTGCTGCTGTAACAAAATACCTGAGACTGGATAA TTTATATACAACAGAAATTTATTTCTCACAGTTACGGAGGCTGGAAGTCG AAGATCAAGGCACCAGCATTTGCTGTCTGGTGAGGGCTGCATCCTCCAAA GGAGAGAAATGCTGAGTCCCCACATG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	300	0.0033	-725	c.108 others(19): Show c.1081-1866_1081-1142del		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF385B_chr2_179436982_179866612	179516809	CTTTGCCT others(718): Show CTTTGCCTAATGCAAAGCCAAATAGATTTTCTACTGTTTTCATCTAGAAG TTTAATAGTTTTTTTAAAGTTTTTATTTTATGAATGATCCTATTGAATTA ATTTTTATGTTTTGTATCAGGTAGTAGTCAAGGCGTTTTTTGAATTTACA TATGAATACGTACTTCTTCTAGCACTGTTTGTTGAAAAGATTAGCCTTTC TTCATTGAATTCACTCTGCAACTTTGTTGAAAATCAACTGACTATATTGG TGTGAGTCTATTTCTGGACTCTGTTCTGTTCCATTGATCCATGTGTCTAC CATTCTTTCACCAGTTTCACAGTCTTGATTATTGTAGATTTTAGAGTAAG TATTAAAATCAGGAAGCATTAAGTCTTCAAAATTTGACCTTTAAAAAAAT GTTTTGACTATTCTAGGGCTTTTCTTTTCTATGTATATTTAAGAAACAGC TTGCCATTTTCCATAATAAAAAAACATTTTGAGATTTTGATCAGGATTGT GCTGGATCTATAGATCAATTGGGGAAGAACTAACATCTTAACAATATTAA GACTTCAAATGAATTAACACTGTATATTTCTCAGTTTATTTAGGTACATT TTGATTCCTGAACATGAAGTTTTATCATGTACCAAAAAATTCATTGGACT TTTGATTAAAATTATATTAAATATAATTTCATAAATCATGATAAACATCT CTTTTCCAATGACTATGATTTTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG00323.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0104 a0001c0001t0001g0109	2	118	0.0169	-725	c.552 others(16): Show c.552+994_552+1718del		ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	5/9						chr2	TogoVar
ARHGAP21_chr10_24578614_24728887	24656214	GGGGGGTC others(717): Show GGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGAGG CACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGG CCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTAC TGTGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02572.hp2 others(2): Show HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0164 a0005c0005t0001g0168	5	350	0.0143	-724	c.268 others(19): Show c.268+10047_268+10770del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
BROX_chr1_222707564_222740187	222720047	GAAAGACC others(717): Show GAAAGACCAGAGCAGACTGTACATTACAACGAAAAGAGTATGAACATTGG GTTTGTACATATTTAGATGCAAGTCCAGGTTTTCTACTGCATGAACATCT GCTTCTTCAACTATATCTTGGGGCTACAGATAGAGTACTTTGTGAGAAGC AAAATAAGAAAATTTTTGTGAAGTGACTGACAACAGTACTAGGCTTATAA GACATTCATTAAATGTTCATTTCCTTTCTTCCTTCCTTGGCAATATTTTA TGTCGAATTCATAATATTCTGGGATACTCAGATTTTCTAAGACCTTGTTT TCTGTTTTTTAATGTGACCCATTTGTTTTTAATCCAAAATTAAGCAATTT TTTTAATTAAAAAGACTTTTTTAAAGAATCAAACCTCTGTCATTATTTTG ACAGATTCTATAATGTGTGCATTTCATAAATTTGGCATTTTTCCGACCAT GCAACATTTTGATTCTGTGTAATAGTGAGCTAAAGCCGGGCACAGTGGCT CACGCCTGTAATCCCAACACTTTGGGAGACCGAGGCAGGCAGATCACTTG AGTTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTAAAACACTGTCTCT ACTAAAAAATACAAAAATTAGCTACGTGTGGTGGAAGGTACCTATAATCC CAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAAGCCA AGGTTGCAGTGAGCTGAGATGAAGC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	384	0.0026	-724	c.305 others(16): Show c.305+689_305+1412del		BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding	4/12						chr1	TogoVar
CCDC57_chr17_82096470_82217842	82148384	AATGGATG others(717): Show AATGGATGAATGGGTGGGTGGATGGATGGATGGATAGGTGGGTGGATGGA TGGGTGAGTGGATGGGTAGATGGATGGATGGTTGGGTGGGTGGGTGGGTG GATGGATGGGTGGGTGGATACATGGATGGGTGGGTGGGTGAATGGATGAA TGGGTGGGTGGATGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTG GGTGGATGGTAGATGGATAGATGGATGGGTGGGTGAGTAGATGGATAGAT GGATGGGTGGGTGGGTGAATAGATGAATGAGTGGGTGGATGGGTAGATGG ATGGATGGTTGGGTGGGTGGGCAGACGGATGGGTGGATGGATACATGGAT GGGTGGGTGGGTGAATGGGTGGGTGGATGGATGGATGGAAAGATAGGTGG GTGGATAGATGGTAGATGGATGGATGGGTGGGTGGGTGGATGGATGGGTG GGTGGGTAGATGGGTGGATGGACAGATGGATGGGTGGGTGGGATAAGTGG TTGGATGGTTGGATGGATGGATGGATGAACAGATAGGTGGGTGGATGGAT GGGTGGGTGGGTGGATGGTAGATGGATGGATGTATGGGTGGGTGGGTAGA TGGGTAGATGGATGAATGGATGGGTGGTGGATGGATGGTAGATGGATGGA TGGGTGGGTGGACGGATGGTTGGGTGGGTGGATGGATGGATGGGTGGGTG GGTAGATGGATGGATGGGTAGATGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0011 a0012 a0023 a0024 a0025	a0001c0001 a0001c0023 a0001c0027 others(10): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0011c0016 a0012c0017 a0023c0031 a0024c0030 a0025c0020	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0011c0016t0001 a0012c0017t0001 a0023c0031t0001 a0024c0030t0001 a0025c0020t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(118): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0250 a0001c0001t0004g0143 a0001c0023t0001g0212 a0001c0027t0001g0066 a0004c0007t0002g0075 a0004c0007t0002g0157 a0004c0007t0002g0159 a0004c0007t0002g0160 a0004c0007t0002g0161 a0004c0007t0002g0172 a0004c0007t0002g0179 a0004c0029t0002g0158 a0005c0008t0001g0069 a0005c0008t0001g0070 a0005c0008t0001g0071 a0005c0008t0001g0072 a0005c0008t0001g0074 a0005c0008t0001g0130 a0006c0010t0001g0028 a0006c0010t0001g0029 a0006c0010t0001g0030 a0006c0010t0001g0031 a0006c0010t0001g0032 a0007c0011t0002g0009 a0007c0011t0002g0010 a0007c0011t0002g0011 a0007c0011t0002g0012 a0011c0016t0001g0105 a0011c0016t0001g0183 a0012c0017t0001g0015 a0012c0017t0001g0016 a0023c0031t0001g0108 a0024c0030t0001g0003 a0025c0020t0002g0068	121	250	0.4840	-724	c.245 others(19): Show c.2455+2452_2455+3175del		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18						chr17	TogoVar
FAM193B_chr5_177514789_177559563	177518226	TAAAAAAA others(717): Show TAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGTGGGTCTCAACC TGGGAGGGATGGAGGAGGACATGGTTTCTGGTCCTGCTCACAACACCCAA ATACATGGCAATCTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCG CTGCAGGAATACAGGTCTGGCGATGTGCAAGTACACAGATTCACTAGGCA ACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAA AGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTT TCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTT CTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATG ATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACT AGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGG TACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCT GGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAA GCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAG GCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGAC AACATAGCAAGACCCCATCTCTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	368	0.0027	-724	c.12 others(11): Show c.1233_*1956del		FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding					1562		chr5	TogoVar
GABRG2_chr5_162062773_162160526	162145946	ATAGAACT others(717): Show ATAGAACTTTCTTTTCTAAAATAAAAACTATCAATACCTAATATTTATTA GGATTTTACAAGGTATTGGTACCCTATGCACATTTTTAAATTTAATCTTT ACTGGAGACTTATAAGGTTCTCCATCATTACCACCACCACTCCCAGTTTG TAGATGAGGATCTCAAACCTCCCTAAGGTTCTACCATGATAATATGGAAG ACGCCAGACCCATATCACCTCCCCAGTCAGGAATCTACAATAGGTCCCAT CTGTCTGGCACTTCATGCCACATATTTTTCATGTATTTATGGAGCTAAAA TACTGTGGTTCAGAGCACAGCATTTGAAGTCGGGCTGCCTAGGTTTGTAT CTCATCTCTACCACTTACTATCTTGAACAAGTTTTTATTCCTCCAATGCT CACTGTTTGTCACCTGTAAAAATAATAATAATAGTAATAATAATACTTAC ATTATAGAAGCATTATGAGGATCTTGTGAGATAATAGAAAGTGCTTGGCA CAGTATCTGGTCAAAGAAAAAGATCAATAAATCTTAACTACTTTATTTGC AATTAAAAATATCTCCCAAAAGTCATAATTATGGATTCCTATTCTCAAAC ATAGATTGAGCATCTTTGATCTTTCATGTATATACTATGCATTGGCTCAC TGTTTCACACATTCATTGAACAAACATTTATTGAGTCCCAGCATGATGCT CCACTGTGGGATTATAGTAGTCATT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0189 a0001c0008t0001g0241 a0001c0002t0001g0189 a0001c0008t0001g0241	2	326	0.0061	-724	c.923 others(17): Show c.923-3157_923-2434del		GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLGA8J_chr15_30077955_30101690	30098926	GAAAAGCG others(717): Show GAAAAGCGAGCATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATGTACCCAAAGGACTATAAATCATGCTGCTATAAAG ACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TGTCCTTTGCAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTTAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCT GGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCCAATGCTAGATGACGATTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGCACATTGTCACATGTACCCTAAAACT TAAAGTATAATAATAATAATAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02630.hp2 others(5): Show HG01243.hp2 HG01261.hp1 HG02630.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03239.hp2 NA18971.hp1	a0014 a0016 a0035 others(2): Show a0014 a0016 a0035 a0037 a0049	a0014c0011 a0016c0021 a0035c0057 others(2): Show a0014c0011 a0016c0021 a0035c0057 a0037c0028 a0049c0053	a0014c0011t0009 a0016c0021t0018 a0035c0057t0009 others(2): Show a0014c0011t0009 a0016c0021t0018 a0035c0057t0009 a0037c0028t0019 a0049c0053t0019	a0014c0011t0009g0035 a0014c0011t0009g0045 a0016c0021t0018g0166 others(4): Show a0014c0011t0009g0035 a0014c0011t0009g0045 a0016c0021t0018g0166 a0016c0021t0018g0167 a0035c0057t0009g0117 a0037c0028t0019g0079 a0049c0053t0019g0135	8	342	0.0234	-724	c.54 others(11): Show c.5428_*6151del		GOLGA8J	ENSG00000179938.13	transcript	ENST00000567927.2	protein_coding					2237		chr15	TogoVar
LMLN_chr3_197955217_198048720	198004405	CCATCTAT others(717): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	238	0.0042	-724	c.131 others(19): Show c.1319+1332_1319+2055del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004509	CCATCTAT others(717): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGA TACATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0058 a0002c0002t0036g0058	1	211	0.0047	-724	c.131 others(19): Show c.1319+1444_1319+2167del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
CTRL_chr16_67924574_67936862	67925048	TCCTGCCT others(716): Show TCCTGCCTCAGACTCCCAGAGTGTTGGGATTATAGGCGGAAGCCACTGCT CCTGGCTTTTGGGGTTTTCTTGAGCTGTGATCCAAAAGCTATTGTGGCAG CTGTCTAGTCCAGTTGCCCTGCATATTGGCCTTAATACCTCAATATGAAT ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAG TGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAG CAATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCACGCCAC CACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTTGATCTCATGACCTTGTGATCCACCTGCCTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCCTCAAT ATGAATCTTGAACTACACAAGCCCCCAGGAGACTTACCTGCCTGTCGGGG AGGGCTGTTGCTCTCTGCGCCCACCCACAGCCCTTGGATAGTAAGGCATC TATGGGCCTTCGTTGGCTGCATGCTCCTGGACCCTGACTTTCCTCCTCCT GGGGGCCAGCATCTCCCCAGGAGTCACTGGGTGCTGCTGGCCCACTGATG AGGATGACCCTGTTAGGTGTGTTTGGGAATATGGTTCCCCTGTTGCTCCC ACTTCAGCTCAGTAAAACTTGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-723	c.41 others(11): Show c.4163_*4885del		CTRL	ENSG00000141086.18	transcript	ENST00000574481.6	protein_coding					4525		chr16	TogoVar
DCBLD2_chr3_98790941_98906695	98836917	GGGGCTGA others(716): Show GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCATCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCAGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCA GGGGGGCTGACACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCGGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 NA18906.hp1 HG01884.hp2 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0141 a0001c0003t0008g0142 a0001c0003t0008g0143 a0001c0003t0008g0141 a0001c0003t0008g0142 a0001c0003t0008g0143	3	328	0.0091	-723	c.571 others(19): Show c.571+11821_572-11552del		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DDX41_chr5_177506577_177521961	177517697	CAGGCAAC others(716): Show CAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGC CAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAA GTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTG TGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAG CAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATT GAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAG ACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTC TTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTA AAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTC TGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGC TTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCT TACTGCCAGTCCCATGGTGGGTCTCAACCTGGGAGGGATGGAGGAGGACA TGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAATCTCAGGCCG GGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGC GATGTGCAAGTACACAGATTCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0004g0012 a0001c0001t0004g0042 a0001c0001t0006g0028 a0001c0001t0006g0035 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0005g0017 a0001c0002t0005g0030 a0001c0004t0001g0018 a0001c0004t0001g0041 a0001c0005t0001g0016 a0001c0006t0001g0022 a0001c0007t0001g0024 a0001c0009t0001g0040 a0002c0008t0001g0039	395	410	0.9634	-723	c.-14 others(10): Show c.-1475_-753del		DDX41	ENSG00000183258.12	transcript	ENST00000330503.12	protein_coding					737		chr5	TogoVar
FAM193B_chr5_177514789_177559563	177517697	CAGGCAAC others(716): Show CAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGC CAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAA GTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTG TGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAG CAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATT GAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAG ACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTC TTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTA AAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTC TGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGC TTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCT TACTGCCAGTCCCATGGTGGGTCTCAACCTGGGAGGGATGGAGGAGGACA TGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAATCTCAGGCCG GGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGC GATGTGCAAGTACACAGATTCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0001c0005 a0001c0007 others(9): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0005c0006 a0006c0017 a0007c0016 a0008c0013 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0005t0006 a0001c0005t0022 a0001c0007t0001 a0001c0009t0001 a0001c0010t0019 a0001c0011t0001 a0001c0014t0046 a0005c0006t0002 a0006c0017t0003 a0007c0016t0010 a0008c0013t0020 a0011c0012t0018	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(249): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0004g0003 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0005g0007 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0208 a0001c0001t0006g0022 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0189 a0001c0001t0007g0014 a0001c0001t0007g0040 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0008g0015 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0009g0164 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0010g0024 a0001c0001t0010g0046 a0001c0001t0010g0050 a0001c0001t0010g0051 a0001c0001t0011g0125 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0011g0128 a0001c0001t0011g0129 a0001c0001t0011g0130 a0001c0001t0012g0034 a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0013g0037 a0001c0001t0013g0161 a0001c0001t0013g0162 a0001c0001t0013g0163 a0001c0001t0013g0168 a0001c0001t0014g0023 a0001c0001t0014g0039 a0001c0001t0014g0197 a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0015g0226 a0001c0001t0015g0227 a0001c0001t0015g0228 a0001c0001t0016g0120 a0001c0001t0016g0124 a0001c0001t0016g0131 a0001c0001t0016g0132 a0001c0001t0016g0133 a0001c0001t0017g0170 a0001c0001t0017g0173 a0001c0001t0017g0174 a0001c0001t0017g0177 a0001c0001t0017g0180 a0001c0001t0018g0038 a0001c0001t0018g0196 a0001c0001t0018g0198 a0001c0001t0019g0191 a0001c0001t0019g0192 a0001c0001t0019g0194 a0001c0001t0019g0195 a0001c0001t0020g0243 a0001c0001t0020g0245 a0001c0001t0022g0036 a0001c0001t0022g0160 a0001c0001t0023g0042 a0001c0001t0023g0231 a0001c0001t0023g0232 a0001c0001t0024g0076 a0001c0001t0024g0077 a0001c0001t0024g0113 a0001c0001t0025g0121 a0001c0001t0025g0122 a0001c0001t0026g0200 a0001c0001t0026g0201 a0001c0001t0026g0207 a0001c0001t0027g0041 a0001c0001t0027g0229 a0001c0001t0028g0233 a0001c0001t0028g0234 a0001c0001t0028g0235 a0001c0001t0029g0247 a0001c0001t0029g0248 a0001c0001t0029g0249 a0001c0001t0032g0044 a0001c0001t0032g0045 a0001c0001t0033g0047 a0001c0001t0033g0048 a0001c0001t0034g0210 a0001c0001t0034g0211 a0001c0001t0035g0221 a0001c0001t0035g0225 a0001c0001t0036g0220 a0001c0001t0036g0222 a0001c0001t0037g0238 a0001c0001t0037g0239 a0001c0001t0038g0255 a0001c0001t0038g0257 a0001c0001t0039g0056 a0001c0001t0040g0079 a0001c0001t0041g0119 a0001c0001t0042g0135 a0001c0001t0043g0145 a0001c0001t0044g0209 a0001c0001t0045g0212 a0001c0001t0047g0230 a0001c0001t0048g0237 a0001c0001t0049g0236 a0001c0001t0050g0242 a0001c0001t0051g0246 a0001c0001t0052g0250 a0001c0001t0053g0251 a0001c0001t0054g0252 a0001c0001t0055g0253 a0001c0001t0056g0254 a0001c0001t0057g0256 a0001c0001t0058g0258 a0001c0001t0059g0259 a0001c0001t0060g0260 a0001c0001t0061g0261 a0001c0001t0062g0262 a0001c0001t0063g0267 a0001c0005t0006g0169 a0001c0005t0022g0156 a0001c0007t0001g0075 a0001c0009t0001g0093 a0001c0010t0019g0193 a0001c0011t0001g0098 a0001c0014t0046g0218 a0005c0006t0002g0058 a0005c0006t0002g0059 a0006c0017t0003g0141 a0007c0016t0010g0049 a0008c0013t0020g0244 a0011c0012t0018g0190	352	368	0.9565	-723	c.17 others(11): Show c.1763_*2485del		FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding					2091		chr5	TogoVar
GLS2_chr12_56465952_56493161	56470194	ACCCTGAG others(716): Show ACCCTGAGTCCATCTACCTTAAATCTGTACCTCTGACACCCAGCCAGTCT GTCATAATCATTATCCCAGTTATAACCTTGACCAAAGGGGAAGAGAGACA CTTGGGGGATATCTAGGGGATGAGTGCTAGAAACTATTTATTTATTTTTG AGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTT GGCTCACTGCAAACTCTGCCTTTTGGGTTCAAGCGACTCTCGTGCCTCAG CCTCCTGAGTAGCTAGGATTACAGGTGTGTGCCACCATGCCCGTCTCATT TTTATATTTTTAGTAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGTCT CGAACTCCTGGCCTCATGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTG GGATTTCAGGCGTGAGCCACCACACCCGGCCAAAACTGTTTATTCTTGAG AAGTTCCATCTTCATTTCTGCCACAGTTGGAACTTCCCGAGGAAGGAAGG AGGCCTGAGGTTTTGCACAATCTGTTTCAGAGCCTGTTTAGACTCAAACC TATGCTTCCCTTGGCAGCAGAATACACTTAACCTAAAGCAGTATTTGGAG TTGAGAAAAACCTGGTGGGGTAAGTGAATATGTACTGTTTGGTAGGGTAG GTAGAGAAGCTGTGCTTTGACCCTGTGATTCCATCTTTTTCTACCTTCTA TGATGGTGATGAAGCTAGATACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA18945.hp2 NA18966.hp1 others(4): Show HG01943.hp2 NA18945.hp2 NA18966.hp1 NA18981.hp2 NA18994.hp1 NA18998.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0033 a0002c0002t0002g0138 a0002c0002t0002g0003 a0002c0002t0002g0033 a0002c0002t0002g0138	7	359	0.0195	-723	c.57 others(10): Show c.570_*1292del		GLS2	ENSG00000135423.13	transcript	ENST00000311966.9	protein_coding					757		chr12	TogoVar
GOLGA8J_chr15_30077955_30101690	30098926	GAAAAGCG others(716): Show GAAAAGCGAGCATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAA GTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTT TACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTG TGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCAT CCCATTACTGGGTATGTACCCAAAGGACTATAAATCATGCTGCTATAAAG ACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACT TGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTG GCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCA TGTCCTTTGCAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTTAA CTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGG GAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCT GGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATA TACCCAATGCTAGATGACGATTTAGTGGGTGCAGCGCACCAGCATGGCAC ATGTATACATATGTAACTAACCTGCACATTGTCACATGTACCCTAAAACT TAAAGTATAATAATAATAATAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0029 a0030c0048t0029	a0030c0048t0029g0056 a0030c0048t0029g0056	1	335	0.0030	-723	c.54 others(11): Show c.5428_*6150del		GOLGA8J	ENSG00000179938.13	transcript	ENST00000567927.2	protein_coding					2237		chr15	TogoVar
SPRYD4_chr12_56463578_56484708	56470194	ACCCTGAG others(716): Show ACCCTGAGTCCATCTACCTTAAATCTGTACCTCTGACACCCAGCCAGTCT GTCATAATCATTATCCCAGTTATAACCTTGACCAAAGGGGAAGAGAGACA CTTGGGGGATATCTAGGGGATGAGTGCTAGAAACTATTTATTTATTTTTG AGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTT GGCTCACTGCAAACTCTGCCTTTTGGGTTCAAGCGACTCTCGTGCCTCAG CCTCCTGAGTAGCTAGGATTACAGGTGTGTGCCACCATGCCCGTCTCATT TTTATATTTTTAGTAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGTCT CGAACTCCTGGCCTCATGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTG GGATTTCAGGCGTGAGCCACCACACCCGGCCAAAACTGTTTATTCTTGAG AAGTTCCATCTTCATTTCTGCCACAGTTGGAACTTCCCGAGGAAGGAAGG AGGCCTGAGGTTTTGCACAATCTGTTTCAGAGCCTGTTTAGACTCAAACC TATGCTTCCCTTGGCAGCAGAATACACTTAACCTAAAGCAGTATTTGGAG TTGAGAAAAACCTGGTGGGGTAAGTGAATATGTACTGTTTGGTAGGGTAG GTAGAGAAGCTGTGCTTTGACCCTGTGATTCCATCTTTTTCTACCTTCTA TGATGGTGATGAAGCTAGATACCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 NA18945.hp2 NA18966.hp1 others(4): Show HG01943.hp1 NA18945.hp2 NA18966.hp1 NA18981.hp2 NA18994.hp1 NA18998.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	7	367	0.0191	-723	c.61 others(10): Show c.619_*1341del		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding	2/2				619	INFO_REALIGN_3_PRIME	chr12	TogoVar
SVIL_chr10_29452338_29639971	29453314	CTTGGCCT others(716): Show CTTGGCCTCAAGGGATCCTCCCTCCTTGGCCTCTCAAAGCACTGGAATTA GAGGCGTGAGCCACCTCACCTGGCCTCGCACCAAACTCTTTATTGACTTC TTGGTTATTGTCGCCTGTTACTAGTCGCTACGCTAGTTCAGAAAGGCTTT GCACAGAGGTCTGTTTTGAGACTTCTGTGCCTTACCTAGATCTCAGATCA AGAAAGTCCTGTGATGGCTGAGGACGGTGGTGGGAGGTCAGTGGGATTGG GGCTCAGGACCATCGCTGATTTAGGTCTTCACACTGGGCCTTCTGTGATC TCAGAACATCACACACCCATAAATAAACCTCCAAGGACCAGTGTCTGCAA CTTATTGCTAACAAAAAATTTAAGATGCAGAACAAAAACAGTTTTTGTTT ATATATTTTTAATATAGGGTCTTGCTCCGTCACCCAGGCTGGAGTGTAGT GGTGCAATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCCAGTAATCC TCCTGCCTCAGCCTCCCAAGTAGCCGAAACTACAGGGATGTGCCAGTTTT TTTCCTTTTTTAATGTGAGCATACACATCTATGCTAGTAGATGTAAAGAA AAATCCAGAAGAATATAAATCAGATTATTAAAGTACTTGTATTTGGTTAG TGGTATTATTTATGATTTTTGATTCCTAGATTATATATCTTTGTAGTGAT TGCATTTTTTACGTAGATCAGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01981.hp1 HG02055.hp2 others(4): Show HG01106.hp1 HG01981.hp1 HG02055.hp2 HG03491.hp2 HG03579.hp2 HG04115.hp1 NA19240.hp1	a0012 a0016 a0044 a0012 a0016 a0044	a0012c0020 a0016c0025 a0016c0068 others(1): Show a0012c0020 a0016c0025 a0016c0068 a0044c0110	a0012c0020t0005 a0016c0025t0005 a0016c0068t0005 others(1): Show a0012c0020t0005 a0016c0025t0005 a0016c0068t0005 a0044c0110t0005	a0012c0020t0005g0017 a0012c0020t0005g0155 a0012c0020t0005g0229 others(4): Show a0012c0020t0005g0017 a0012c0020t0005g0155 a0012c0020t0005g0229 a0016c0025t0005g0168 a0016c0025t0005g0207 a0016c0068t0005g0152 a0044c0110t0005g0115	7	288	0.0243	-723	c.42 others(11): Show c.4210_*4932del		SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding					4023		chr10	TogoVar
AHCTF1_chr1_246834098_246936948	246868389	GGGATTAC others(715): Show GGGATTACAGGCGTGAGCCACTGCGCCTGGCAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCGGGCCTC AAGTGATCCTCCCTCCTCGGCCTCTCAAAGTGCTGGGATAGAGGTGTGAG CCACCGGCCTGGCCTACATTTTGTTTCATTATAGCTATGCTGGATTTAGG AAGTTGGGCTTTTGGTAAGTGGTAAAAAAAAAAAAAAAAAAAGTTATTCT TTGTGTTTTCTAGAAGTTGGACATGTGCCTTCAACTGAAATAGGAGTTCT TTCATTATGCATACACTAGTAAATAAACAGTCAAATCTTCTAAGAAAGGC TTACATTTCTTGGGTTACAGAGCAGCCAATAAAAAAGTACCACGTGATGA ATGAGTACAGGTCTACCTCATTTTATTGTGCTTTGCTTCATTGTGTGTGT GTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGTTCTGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGG CGCCCGCCACCATGCCTGGCTAACTTTTTCTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTTGGCCTCCCAAAGTGCT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0003 a0021 a0003 a0021	a0003c0003 a0021c0033 a0003c0003 a0021c0033	a0003c0003t0001 a0021c0033t0001 a0003c0003t0001 a0021c0033t0001	a0003c0003t0001g0278 a0021c0033t0001g0279 a0003c0003t0001g0278 a0021c0033t0001g0279	2	374	0.0053	-722	c.308 others(18): Show c.3089-1300_3089-579del		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	24/35						chr1	TogoVar
DGKB_chr7_14140049_14907751	14211706	TTACTCTC others(715): Show TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0116 a0001c0004t0002g0116	1	146	0.0068	-722	c.212 others(21): Show c.2123-34277_2123-33556del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
NTM_chr11_131365615_132341822	132069259	CATCACAG others(715): Show CATCACAGATTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTG ACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACAC TGACCATCACAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAA ACTGACTGTCACCGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTC AAACTGACCGTCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACG TCACACTGACCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACA CGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGACAAGTTAA CACATCACACTGACCGTCACAGGTTAGTTAACAGGTCACCCAGCCAAGTT AACACGTCACACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAGG TTAACACGTCACACTGACCATCACAGGTTAGTTAACACGTCACACAGCCA AGTTAACACGTCAAACTGACGATCACAGGTTAGTTAACACGTCACACAGC CAAAACACATCAAACTGACCATCACAGGTTAGCTAACACGTCACACAGCC AAGTTAACACGTCACACTGACCGTCACAGGTTAGTTTACACGTCACACAG CCAAAACACGTCAAACTGACCATCACAGGTTAGTTAACATGTCACACAGC CAAGTTAACACGTCAAACTGACG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp2 HG00642.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0085 a0001c0001t0008g0070 a0001c0001t0001g0085 a0001c0001t0008g0070	2	86	0.0233	-722	c.168 others(19): Show c.168-77015_168-76294del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CHST9_chr18_26901481_27190308	26991656	ACTAAGAA others(714): Show ACTAAGAAGCACCTGCCAGTGAAAGCAGGAGACGATGGTGACTTAGATGC CAAGCAAAGACAGTTTTCTGAGGAGGAGGGAGTGATCAACTGTGTCAAAT GTTTCTGACAGGTCTGATGAAGACGAGGACTAAGACCTGACCACTGGATC TAGTAATAGGGTGTTCATTGATGGCCCAGAGCAGTTTTGTAAAGTGATGG AAGTGAAAGTCCCTGTGGAAGGGCTTTGAGAAGGAATGGACAAGAAGAAC TCCTTTGAAGAGCATTGCTGCAAGAGGCAGAGCAGTGGGCAGTTGTTGTG AGGGAAAGTAGGGTTAGAAGAGAATATTGAGGATGGGAGGAAGAACGGCA TGTTTGTGTGGTGAAGGAATGATCCAGCGAAAAAAGGAAAAATTGATGTT GTTATCTGTCACTTATGTTCTTGTTCATATCCCACCCTGTTCCTATGTTT GGGGATCCCAACTTTGAGGTTGAGCCCACACATCCTAGATTCTCACTTTC CCAGAATCCACAAAGATGGGGCACAGGAACAAGAAGCTCTACTACCAGAT GCCTCAGCCCCTCACTCTGAATTAGAAGCGAGTGACATGAAGAACAAATC ACACCACATCTATGCTGGAAACAGATGCTAGTGAGCCTTCAGACACAGAA AGTTTGAGAAAAAGAAAAGTGTTATGTTTTCCTTTAAAGGAGTTTATAAT CACTGAGGGTGGGGATTGACTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(80): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18943.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19057.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0084 a0001c0001t0088 a0002c0003t0032 a0002c0003t0054	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(80): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0131 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0115 a0001c0001t0003g0143 a0001c0001t0003g0225 a0001c0001t0004g0210 a0001c0001t0006g0040 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0208 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0007g0013 a0001c0001t0008g0183 a0001c0001t0008g0199 a0001c0001t0008g0206 a0001c0001t0010g0022 a0001c0001t0010g0081 a0001c0001t0010g0098 a0001c0001t0010g0158 a0001c0001t0011g0152 a0001c0001t0011g0169 a0001c0001t0014g0072 a0001c0001t0015g0216 a0001c0001t0015g0224 a0001c0001t0020g0137 a0001c0001t0020g0144 a0001c0001t0020g0149 a0001c0001t0021g0047 a0001c0001t0021g0053 a0001c0001t0021g0219 a0001c0001t0022g0172 a0001c0001t0022g0179 a0001c0001t0022g0201 a0001c0001t0023g0071 a0001c0001t0023g0074 a0001c0001t0029g0021 a0001c0001t0030g0068 a0001c0001t0030g0154 a0001c0001t0032g0228 a0001c0001t0036g0029 a0001c0001t0036g0070 a0001c0001t0037g0186 a0001c0001t0037g0205 a0001c0001t0044g0069 a0001c0001t0045g0175 a0001c0001t0046g0110 a0001c0001t0047g0104 a0001c0001t0048g0162 a0001c0001t0062g0125 a0001c0001t0063g0099 a0001c0001t0066g0039 a0001c0001t0067g0170 a0001c0001t0068g0119 a0001c0001t0069g0251 a0001c0001t0071g0180 a0001c0001t0084g0212 a0001c0001t0088g0211 a0002c0003t0032g0164 a0002c0003t0054g0112	83	260	0.3192	-721	c.202 others(19): Show c.202+31739_202+32459del		CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5						chr18	TogoVar
EIF3H_chr8_116637130_116760823	116678863	GGGGGGGG others(714): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCTCCCCGTCCGGGAGG GGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCGC CCGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGAAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01069.hp1 others(35): Show HG00280.hp1 HG00558.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG02135.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG04184.hp1 HG06807.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA18982.hp2 NA18994.hp2 NA18998.hp2 NA19065.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(35): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0023g0112	38	333	0.1141	-721	c.290 others(19): Show c.290-20604_290-19884del		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
MELTF_chr3_196996740_197034817	197032672	TGTTACAC others(714): Show TGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCACCTGCAGTCGTGTGA TGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTCAGCACCTGC AGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGTTGGGACAT GAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGATGG GTTGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGAAGATTTTACACTCT TGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGAT GTTACCTCTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTCGTGTGA TGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGAGCACCTGC AGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGTTACTGTGT GAGCACCTGCTGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGACGG GTTGGGGTGTCAGCATCTGCAGTAGTGTGATGTCAGAGGATGTTACCCTC TTGCTGACTTGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGA TGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCATCTGCAGTAGTGTGA TGTCACAGGATGTTACGCTCTTGCTGACTGGTTGGGACGTTAGCACCTGC AGTAGTGTGATGTCACAGGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0035 a0001c0002t0009g0035	1	418	0.0024	-721	c.-36 others(11): Show c.-3691_-2971del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					2856		chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758205	CGACCACC others(713): Show CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG ATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTCATTCCGACCACCTGCTCCACCCTTACTCATTCTGATCACC TGCTCCACCCTAACTCATTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	298	0.0034	-720	c.654 others(19): Show c.654+22094_655-22065del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
CBLC_chr19_44772890_44805652	44800930	GCAGCCCC others(713): Show GCAGCCCCTCCTTCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGGAG TCCATACTGCAGCCCCTCCTTCCTCAGACCCAGGAATCCATACTGCAGCC CCTTCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATA CTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCT CCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCCTCA GACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCA GGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTC CTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCATACTGC AGCCCCTCCTTCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCT CAGACCCAGGAGTCCAGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0202 a0002c0007t0001g0058 a0001c0001t0001g0202 a0002c0007t0001g0058	2	337	0.0059	-720	c.38 others(10): Show c.388_*1107del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					279		chr19	TogoVar
CROCC2_chr2_240901336_240998311	240979639	GCCCAGGC others(713): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGGCT CTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp2 HG06807.hp2 NA19240.hp2	a0011 a0051 a0011 a0051	a0011c0043 a0051c0051 a0011c0043 a0051c0051	a0011c0043t0001 a0051c0051t0001 a0011c0043t0001 a0051c0051t0001	a0011c0043t0001g0017 a0051c0051t0001g0087 a0011c0043t0001g0017 a0051c0051t0001g0087	2	310	0.0065	-720	c.440 others(19): Show c.4402-3110_4402-2391del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar

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