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
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(565): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	164	0.0061	-572	c.637 others(19): Show c.637+11369_637+11940del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560936	ATTCTTGG others(565): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19088.hp2 NA18944.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0019 a0001c0002t0002g0020	2	134	0.0149	-572	c.637 others(19): Show c.637+11757_637+12328del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106846	GAGTGGTC others(565): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01074.hp2 others(5): Show HG00323.hp2 HG00735.hp2 HG01074.hp2 HG01257.hp2 HG02109.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(3): Show a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0003c0008t0002 a0007c0016t0001 a0011c0020t0001	a0001c0001t0001g0056 a0002c0003t0001g0098 a0002c0003t0001g0183 others(5): Show a0001c0001t0001g0056 a0002c0003t0001g0098 a0002c0003t0001g0183 a0003c0008t0001g0059 a0003c0008t0002g0072 a0007c0016t0001g0032 a0011c0020t0001g0110 a0011c0020t0001g0115	8	158	0.0506	-572	c.325 others(17): Show c.325+8442_325+9013del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107886	TAGTGGAC others(565): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	161	0.0062	-572	c.325 others(18): Show c.325+9519_325+10090del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108416	GTGCTGTC others(565): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	188	0.0053	-572	c.325 others(19): Show c.325+10039_325+10610del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238880217	ATTAGTGT others(565): Show ATTAGTGTTAGTATTTATTAGTATTAGTGTTAGTATTTATTGGTATTAGT GTTAGTACTAGTATTTATTAGTGTTAGTGTTATTGTTAGTGTTAGTGTTG GTATTTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGTATTTATTT GTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGTGTTAGTGT TGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATTAGTATTAG TTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATTAGTATTAG TGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTA TTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTAGTATTT ATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGTAT TAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTAGTATTA ATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATATTAGCAT TAGTGTCAGTGTTAGTATTAGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00642.hp1 others(14): Show HG00140.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG01169.hp2 HG01515.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02735.hp1 HG02738.hp2 HG03704.hp1 NA18522.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0127 others(14): Show a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0281 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0261	17	237	0.0717	-572	c.36 others(19): Show c.36-29025_*36-28454del		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76393449	AGGCAGGT others(565): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0202 a0001c0001t0007g0202	1	330	0.0030	-572	c.181 others(21): Show c.1811-13718_1811-13147del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14858120	GGCTGGGG others(564): Show GGCTGGGGAGAGGTGCTCCTCACCTCCCAGATGATGGGCAGCCAGGCAGA GGCGCTCCTCACTTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCTTCACT TCCCAGATGGCGCGGCCAGGCAGAGGCGCTCCTCAGTTCCCAGATTGTGT GTCGTCCATTCAGAGGCACTCCTCACCTACCAGATGATGGGCAGCTGGAG GGAGGCACTCCTCACCTCCCAGATGGGGCGACCGGGAAGAGGCGCTCCCC ACTTCCCAGACAGGGTGGGAGCTGGGCAGAGGCGCTCCTCACAACCCAGA CAGGGTGGCCGGGCAGAGGCACTCCTCACCTCCCAGACAATGGGCAGCCA GGCAGAGGCACTCCTCACTTCCCAGATGGGGCGGCTGGGCAGAGGTGCTC CTCACTTCCCAGATGGGGCAGCTGGGCAGAGGCGCTCCTCACTTCCCAGA TGGGGCAACCAGGCAAGAGGTGCTCCTCATTTCCCAGATGGGGCGGCTGG GAAGAGGCACTCCTCACCTACCAGACGAAGGGCAGCCAGGCAGAGGCACT CCTCACATCCCAGACGATGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	314	0.0032	-571	c.39 others(11): Show c.3963_*4533del		ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding					3454		chr18	TogoVar
DCC_chr18_52335197_53540899	53085985	TCTTCTCC others(564): Show TCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTC TTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTC TTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0107 a0002c0001t0002g0107	1	113	0.0088	-571	c.126 others(21): Show c.1261+19825_1261+20395del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DIRAS1_chr19_2709567_2726372	2713747	CCTACACC others(564): Show CCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACA CCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCC TCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACC CTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCAT CCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATC CCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCAC TTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTCCTA CACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCA CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCTCAA CCCTTCACCCCATCCCTCACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0090 a0001c0002t0039g0090	1	410	0.0024	-571	c.28 others(11): Show c.2892_*3462del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					819		chr19	TogoVar
HGSNAT_chr8_43135464_43207855	43179595	TCCAGTAG others(564): Show TCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG ACTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGTGGGGGGATGACCCCCCCACCTCCCTCCCGGGCGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGTCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGACCCCCCCCCCCACCGCCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0180 a0005c0008t0003g0180	1	228	0.0044	-571	c.101 others(19): Show c.1012+1386_1013-1955del		HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr8	TogoVar
JAKMIP3_chr10_132060946_132189858	132159795	GGGGGGCC others(564): Show GGGGGGCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCT GGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGC TGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGTCTCCCTGTGTGATG CTGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTC TTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTG TGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCT GTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTCT TCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGTGGGCCTC TCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGGGGGGC CTCTCACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGG GGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCTGTGTGATGCT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0022 a0001c0006 a0001c0022	a0001c0006t0003 a0001c0022t0002 a0001c0006t0003 a0001c0022t0002	a0001c0006t0003g0151 a0001c0022t0002g0061 a0001c0006t0003g0151 a0001c0022t0002g0061	2	156	0.0128	-571	c.222 others(19): Show c.2221-3408_2221-2838del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP1R8_chr1_27825782_27856676	27853406	ATCCGGGA others(564): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCTGGGAGTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCA GCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCACGCCCGGCCAGCCGCCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0004g0029 a0001c0001t0005g0004 a0001c0001t0005g0145 a0001c0001t0007g0004	187	338	0.5533	-571	c.29 others(11): Show c.2961_*3531del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1731		chr1	TogoVar
SLC2A7_chr1_8997973_9031423	9030029	GTGACGGA others(564): Show GTGACGGAGTGAGACCCTGTCTTAAAAAAAAAAAAAAGCAAACACATGAA AAAGGGAGAAAAAAAGCACTCAATTCACTGCAGAGTAGTAGGAGGGGAAA GGAAATGTTCAGATGAGAGTGTCAGGATGCCAACTACCTGCTTTCTCATT CTTCCTGCAGGAACTAAAAAATAATCCTGGAGAAAGCAGATTGAAGGGGG CAAGACTCAGTCTAACTAACATTCCAGATTGGAACTTCAGCTCTCCTTTC TGAGCGCCCTTCTGTAATGGAAATGGCCAGTGCACCATGCACTGCCCTGC CCTTGTTCCTGATGTTTCTGTCCTGGTGGTTAAGCCACTAAGCAATACCA GGACACAGGGCAATGGAGTGAGATTTTCACAAAGAAAAATCTATTCAATT TAAAAGACTGAAATTTATTCTGTGATTACATCCTGTCTAGATAGTAAAAT GCCCTTTATTTAAAACATTGTTTCCTCAATTTGGTGATGGGAGTTCATTT TTTAAAAATTATATATATATATATATGCAAATTAGAGACACAGTCTCACT TTGCTGCTCAGGCTGGTCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0196 a0004c0005t0001g0196	1	440	0.0023	-571	c.-42 others(11): Show c.-4255_-3685del		SLC2A7	ENSG00000197241.4	transcript	ENST00000400906.2	protein_coding					3607		chr1	TogoVar
SNTG2_chr2_945849_1372613	1106017	ATGGACAC others(564): Show ATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA TAGTGGACACCTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACCTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACATGCTGTCACTCGGGTTCAGGGTATGGAGAGCTCCT TGGTAATAGTGGATGCGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGATGTGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGATAATAATGGACACGTGCTGTCACTCGGTGCAGGGTATGGAGAG CTCCTTGGTAATAGTGGATGCGTGCTGTCACTCGGGTGCAGGGTGTGGAG AGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGT GTGGAGAGCTCCTTGGTAACAG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0165 a0006c0010t0001g0165	1	124	0.0081	-571	c.325 others(17): Show c.325+7626_325+8196del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRARG1_chr17_1274662_1305978	1277157	TCTACTAG others(564): Show TCTACTAGGCACATTTTTAGAACGTAAAAATAAGCAGATGAAATCAATAA TGTTGATTTTAATAACGTTTTATTTATCCCAATATATCCAAAATATTATC CTTTCAATATACAATCAATAAAAAGTATTAATGAGATATTTTCCATTCTT TTTGTGTTTGGACCCAGTTTTCGATGTCTTGTGTGTATTTTACATCTCAA CTTGGATGAGTCACATTTCAAGGGCTCGGAAGCCACATGTGGCTAGGGGC TACCGAATTGGGCTGGGTAGCTGTCGTCCCTCCACCCAGGGGTCAGCTCC AAGGCTGTACCATGGCATTCTGCCCAACTGGATACCGGCTTGGAGCCTAA GGGGTCTCAGGGACCCACCTAGCCACCCTGTGAAGGAGCTTTCCTGTTAT ACAGGATTATCGTATTTCTGGACGCTCATAAGCAGGGGAGCCCAGCTCGC TCCCAGGCCCCACACCTGGCCTCCCTGAGGACTGAGAGGAGGACGAGGCG GCTCCCCAAGGTCTTCATTTTGCAAATAACAATGGGTTTCCTTTATTGAG CACAATTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	400	0.0025	-571	c.-28 others(11): Show c.-2844_-2274del		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding					2504		chr17	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(563): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02615.hp1 HG02809.hp2 others(1): Show HG02109.hp2 HG02615.hp1 HG02809.hp2 HG03540.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0145 a0018c0016t0001g0146 a0018c0016t0001g0318 others(1): Show a0018c0016t0001g0145 a0018c0016t0001g0146 a0018c0016t0001g0318 a0018c0016t0001g0346	4	285	0.0140	-570	c.318 others(9): Show c.3180_3749del	p.Thr others(15): Show p.Thr1061_Thr1250del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1235649	CCGGTGTT others(563): Show CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCC ACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACA CTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTC GCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGC TGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGT GGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTG GGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTT TCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCT CTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAG CTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGA ACATGCCTGCATTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0016 a0008c0008t0016	a0008c0008t0016g0003 a0008c0008t0016g0003	1	106	0.0094	-570	c.136 others(19): Show c.1362-2374_1362-1805del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238367	TTACTCCC others(563): Show TTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCT CTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTCCCTCCCTCTGGCGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	-570	c.136 others(19): Show c.1361+3194_1361+3763del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AGO2_chr8_140515156_140640633	140622576	CGGGGGAA others(563): Show CGGGGGAATAATGCACATGGGGTCTCCTCTCGGGGGAATAATCCACATGG GGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT TGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0308 a0001c0002t0015g0308	1	336	0.0030	-570	c.22+ others(17): Show c.22+12339_22+12908del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AGO2_chr8_140515156_140640633	140622714	GGGGTCTC others(563): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATCCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGTAA TAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01496.hp2 others(5): Show HG00738.hp1 HG01074.hp2 HG01496.hp2 HG01952.hp2 HG03239.hp1 HG03516.hp1 HG04184.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0047 a0001c0001t0073 others(3): Show a0001c0001t0001 a0001c0001t0047 a0001c0001t0073 a0001c0003t0053 a0001c0004t0004 a0001c0005t0107	a0001c0001t0001g0010 a0001c0001t0001g0118 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0047g0146 a0001c0001t0073g0144 a0001c0003t0053g0142 a0001c0004t0004g0145 a0001c0005t0107g0173	8	336	0.0238	-570	c.22+ others(17): Show c.22+12201_22+12770del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281016	CGGCCTTC others(563): Show CGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCAT ACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTC TCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTT CGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCACTTTCATACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	311	0.0032	-570	c.310 others(17): Show c.310-5282_310-4713del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BRSK2_chr11_1384934_1467689	1417478	ACCTGTGT others(563): Show ACCTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACA CTGTGTCATGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACACT GTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTG TCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTC CTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCT GCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGC TTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTC TGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGT GGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTCTGTTG GCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGTGTCCTGCTTCTGTTGGCT GTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGTTGGCAGTT TCTTCTCTTGAGAGTGGTTCT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	358	0.0028	-570	c.92- others(17): Show c.92-18505_92-17936del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431673	CGGTCTGG others(563): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0184 a0001c0001t0057g0184	1	350	0.0029	-570	c.92- others(15): Show c.92-4340_92-3771del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GALNT9_chr12_132191372_132334589	132231719	AGACAGCG others(563): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACA GCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTC CCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0145 a0001c0019t0003g0145	1	182	0.0055	-570	c.107 others(21): Show c.1077+15621_1077+16190del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132290589	ATCCACAG others(563): Show ATCCACAGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCA CACCACCCACATCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCG CCCACAACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCAC ATCCACAGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCA CAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCG CACACGTCCACAGCACCCACAACCACAGCGCCCACGTCCACATCACCCAC ATCCACAGCACCCACGTCCACAGCACCCACATCCAGAGCACCCACGTCCA CACCACCCACATCCACAGCGCCCACATCCACAGCACCCACAACCACAGCA CCCACAACCACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCAC GTCCACAGCGCCCACATCCTCAGCACCCACAACCACAGCACCCACGTCCA CATCACCCACGTCCATAGCACCCACATCCACAGCACCCACATCCACAGCA CCCACAACCACAGCACCCACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01943.hp1 others(1): Show HG00639.hp2 HG01361.hp2 HG01943.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0030 others(1): Show a0001c0001 a0001c0018 a0001c0030 a0001c0031	a0001c0001t0001 a0001c0018t0001 a0001c0030t0001 others(1): Show a0001c0001t0001 a0001c0018t0001 a0001c0030t0001 a0001c0031t0001	a0001c0001t0001g0149 a0001c0018t0001g0039 a0001c0030t0001g0110 others(1): Show a0001c0001t0001g0149 a0001c0018t0001g0039 a0001c0030t0001g0110 a0001c0031t0001g0038	4	182	0.0220	-570	c.239 others(17): Show c.239-4729_239-4160del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GPC5_chr13_91393621_92872237	92404594	ATTCGGTT others(563): Show ATTCGGTTAATAAATAATCATTCACAGCAACTGGGAAATGGTTTACATTC TTATTCCTAATTTACAGAAGGAAACTGAGGCCTATACTGAATGTCTTTCC TGGGGTCTTGGCATTCCAAAACTGGGAATTGAAGCCAGTCTTTGACAGAG TCCAGTGTTTTTTCTACTAAACCAACGTTTCCCCGAGATAGCTCAACAGA AGGTGTTTAATAGGGATAAATATATTACCCCTAAGTATGATCATCTTAAA TTATTTATTAAGGTGGTACTTTACAAGTACATCAAGGATAATATACTGTA AATGTATAGACAATCCTCACTTAACATTGTCAATAGGTTCTTGGAAACTG GGAGTTTAAGCAAAACAATGTATAAGGAAACCGATCTTGCCATAGGCAAA TTAAATTCCTATGGCATATTTCTGGTTACAAAAATATCACTACACTTCTA AATAAAGACCAAAACACTTCTAAAATTAAACATTGAAATAAATGTGAGCT ATACATGCATTTAAGAAAGAATAATAAAAACAAGATAATTATTTACCTGC TAATTCCATCCAGTTCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 NA19043.hp2 HG02896.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0001g0012 a0001c0001t0002g0014 a0001c0001t0002g0037	3	42	0.0714	-570	c.156 others(23): Show c.1561+259606_1561+260175del		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7						chr13	TogoVar
HSPA4L_chr4_127777322_127845733	127831518	AAAAAAGG others(563): Show AAAAAAGGAAGCAATCTAAATATCTGTCAATAGGAAACTAGATCAATAAG TTGATGCATCCATACAACACTATGCAGCCATTAAATATAGCATTTTACAT ATAGAGATATCTGTTTAAAGATGTATACAGTGTATTGGTAAGTTAAATTA CAGAACCTAAATGTATTCATTTGTACAAATACGTGTGCTCATAGATTTGT TTATATGTATGTGTATGCCTGAACATACATCTAGAAGGATATCCACCAAA AGGTTAATATTATTAATTTGTAGGAGATGGAATTTCAGGGGATTTTTAAA ATAACATTCAGTATGTTTTGGGATATGTGATTTTTTTTCTTTTTTTTTAA CAAAAGCTGGTATTTTTTATAATGAAGTAAGTAATAACAATATTTTTATT CTAACAAAGTTTTGCCAATAAGCTATAATATATATTTTACTCCTAATGAG ATGAGATGAGATGTGGAGTGTGACAAGAGCAGTTTGCAACTAAAACATTC CCCTTAAGATGTTAATCCCTATATTTCCGTGGCTACCCCGATCTTTGTGA CATTGATCTTCAAAGGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(7): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG02165.hp2 NA18951.hp1 NA18962.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	10	338	0.0296	-570	c.232 others(17): Show c.2328+723_2329-592del		HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
KANK1_chr9_499695_751103	707442	AGCTGCAG others(563): Show AGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGAC ATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGT TTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTA ATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCT CCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAG CTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCT GCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGG TCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGG AGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACA TTCCTGGAGACAGGTCTGGCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(28): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp1 HG01168.hp2 HG01358.hp2 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03486.hp1 NA18906.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18984.hp1 NA18998.hp2 NA19009.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1	a0003 a0004 a0008 others(5): Show a0003 a0004 a0008 a0010 a0017 a0020 a0026 a0031	a0003c0003 a0003c0015 a0003c0051 others(8): Show a0003c0003 a0003c0015 a0003c0051 a0004c0005 a0008c0057 a0010c0013 a0010c0023 a0017c0024 a0020c0027 a0026c0043 a0031c0042	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 a0003c0015t0001 a0003c0051t0004 a0004c0005t0001 a0008c0057t0001 a0010c0013t0001 a0010c0023t0001 a0017c0024t0007 a0020c0027t0004 a0020c0027t0010 a0026c0043t0001 a0031c0042t0002	a0003c0003t0001g0046 a0003c0003t0001g0050 a0003c0003t0001g0059 others(28): Show a0003c0003t0001g0046 a0003c0003t0001g0050 a0003c0003t0001g0059 a0003c0003t0001g0098 a0003c0003t0001g0113 a0003c0003t0001g0166 a0003c0003t0001g0172 a0003c0003t0001g0177 a0003c0003t0001g0183 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0002g0057 a0003c0003t0004g0115 a0003c0003t0011g0017 a0003c0015t0001g0209 a0003c0015t0001g0210 a0003c0051t0004g0207 a0004c0005t0001g0190 a0008c0057t0001g0064 a0010c0013t0001g0063 a0010c0013t0001g0065 a0010c0013t0001g0066 a0010c0023t0001g0062 a0010c0023t0001g0100 a0017c0024t0007g0093 a0020c0027t0004g0030 a0020c0027t0010g0014 a0026c0043t0001g0225 a0031c0042t0002g0086	31	227	0.1366	-570	c.38- others(15): Show c.38-3221_38-2652del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707583	GTTTCAGA others(563): Show GTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGG CTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACA GGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCT GGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGA CAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAG TTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTT AATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTC TCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCA GCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01257.hp2 others(26): Show HG00099.hp2 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0007 a0012 a0014 a0019 a0024 a0030	a0001c0058 a0002c0002 a0004c0005 others(12): Show a0001c0058 a0002c0002 a0004c0005 a0004c0011 a0004c0033 a0004c0034 a0004c0037 a0005c0004 a0005c0050 a0007c0025 a0012c0036 a0014c0012 a0019c0026 a0024c0062 a0030c0049	a0001c0058t0004 a0002c0002t0003 a0004c0005t0001 others(14): Show a0001c0058t0004 a0002c0002t0003 a0004c0005t0001 a0004c0011t0006 a0004c0033t0001 a0004c0034t0001 a0004c0037t0008 a0005c0004t0005 a0005c0004t0006 a0005c0050t0003 a0007c0025t0002 a0012c0036t0001 a0014c0012t0012 a0019c0026t0001 a0019c0026t0002 a0024c0062t0005 a0030c0049t0003	a0001c0058t0004g0134 a0002c0002t0003g0245 a0004c0005t0001g0092 others(26): Show a0001c0058t0004g0134 a0002c0002t0003g0245 a0004c0005t0001g0092 a0004c0005t0001g0191 a0004c0005t0001g0192 a0004c0005t0001g0193 a0004c0005t0001g0195 a0004c0011t0006g0002 a0004c0033t0001g0107 a0004c0034t0001g0096 a0004c0037t0008g0194 a0005c0004t0005g0109 a0005c0004t0005g0158 a0005c0004t0005g0173 a0005c0004t0005g0237 a0005c0004t0005g0238 a0005c0004t0005g0246 a0005c0004t0006g0151 a0005c0004t0006g0222 a0005c0004t0006g0230 a0005c0050t0003g0253 a0007c0025t0002g0091 a0007c0025t0002g0229 a0012c0036t0001g0024 a0014c0012t0012g0094 a0019c0026t0001g0007 a0019c0026t0002g0228 a0024c0062t0005g0128 a0030c0049t0003g0252	29	242	0.1198	-570	c.38- others(15): Show c.38-3211_38-2642del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707709	CCTGGAGA others(563): Show CCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTC AGACATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATG GAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCT GTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTT CTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCT GCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCT GGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGA CAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTC CTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAATTTCA GACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGG AATTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTG TTAATGGAATTTCAGACAGTA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0157 a0003c0015t0001g0157	1	252	0.0040	-570	c.38- others(15): Show c.38-3074_38-2505del		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KLHL3_chr5_137612500_137741089	137686971	TGGGGGGG others(563): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTGGCTGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCTGGCGAGCCGCCCCGTCCGGGAGGGTGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGC CGCCCCGTCCGGGAGGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0156 a0001c0002t0003g0156	1	250	0.0040	-570	c.526 others(17): Show c.526+4744_526+5313del		KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14						chr5	TogoVar
MUC20_chr3_195715978_195738551	195725120	TCCTCAGA others(563): Show TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCC GTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCA TCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCAT CCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTT CCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGC GCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGG CCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCG TCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCAT CACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATC CAGTCATCACCCCGTCACGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01168.hp1 HG01261.hp1 others(6): Show HG01167.hp1 HG01168.hp1 HG01261.hp1 NA18940.hp2 NA18953.hp2 NA18955.hp2 NA18961.hp2 NA19000.hp2 NA19030.hp2	a0007 a0021 a0044 a0007 a0021 a0044	a0007c0012 a0007c0021 a0021c0017 others(1): Show a0007c0012 a0007c0021 a0021c0017 a0044c0062	a0007c0012t0001 a0007c0021t0001 a0021c0017t0001 others(1): Show a0007c0012t0001 a0007c0021t0001 a0021c0017t0001 a0044c0062t0001	a0007c0012t0001g0005 a0007c0012t0001g0010 a0007c0021t0001g0010 others(3): Show a0007c0012t0001g0005 a0007c0012t0001g0010 a0007c0021t0001g0010 a0021c0017t0001g0062 a0021c0017t0001g0072 a0044c0062t0001g0019	9	81	0.1111	-570	c.544 others(8): Show c.544_1113del	p.Ser others(13): Show p.Ser182_Asp371del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	574/2493	544/2130	182/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725147	AGCCCCCA others(563): Show AGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTC TTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCA GCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCA GAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACG GGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCC CGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTC ATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCA TCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACG GCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCT TCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAG CGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAG AGAGCAGCGCCTCTTCCGACG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp2 HG02965.hp2	a0038 a0038	a0038c0031 a0038c0031	a0038c0031t0001 a0038c0031t0001	a0038c0031t0001g0074 a0038c0031t0001g0074	1	124	0.0081	-570	c.624 others(8): Show c.624_1193del	p.Ser others(13): Show p.Ser209_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	654/2493	624/2130	208/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCGF3_chr4_700832_775089	745780	GCCCCGGG others(563): Show GCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0100 a0001c0003t0032g0100	1	362	0.0028	-570	c.462 others(17): Show c.462+1096_462+1665del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP1R8_chr1_27825782_27856676	27853421	GGGGGGGT others(563): Show GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCC AGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGC CGCCTCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	-570	c.29 others(11): Show c.2976_*3545del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1746		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853471	GGGGGGGT others(563): Show GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCC AGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGC CGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG03688.hp2 HG04199.hp2 HG01261.hp2 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0155 a0001c0005t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0155 a0001c0005t0001g0002	3	338	0.0089	-570	c.30 others(11): Show c.3026_*3595del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1796		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853506	TCTGGGAG others(563): Show TCTGGGAGTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCA GCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	-570	c.30 others(11): Show c.3061_*3630del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1831		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853559	CCCCTCTG others(563): Show CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCC CCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC ACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCA CGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-570	c.31 others(11): Show c.3114_*3683del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1884		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853598	GGGGGGGT others(563): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02738.hp1 HG03139.hp1 others(1): Show HG01978.hp1 HG02738.hp1 HG03139.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0108 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0001g0113	4	338	0.0118	-570	c.31 others(11): Show c.3153_*3722del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1923		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853609	CCCCCCGC others(563): Show CCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCC CCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC ACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCA CGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01993.hp2 HG02080.hp1 HG01175.hp2 HG01993.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0121	3	338	0.0089	-570	c.31 others(11): Show c.3164_*3733del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1934		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853647	GGGGGGGT others(563): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTG GGGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19058.hp1 NA18993.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0118 a0001c0001t0001g0020 a0001c0001t0001g0118	2	338	0.0059	-570	c.32 others(11): Show c.3202_*3771del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1972		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853658	CCCCCCGC others(563): Show CCCCCCGCCCGGCCAGCTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGC CCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC ACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03704.hp2 HG03491.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0008 a0001c0001t0001g0011	2	338	0.0059	-570	c.32 others(11): Show c.3213_*3782del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1983		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853696	GGGGGTGT others(563): Show GGGGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGG GGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCTGTCCAGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	338	0.0030	-570	c.32 others(11): Show c.3251_*3820del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					2021		chr1	TogoVar
PPP1R8_chr1_27825782_27856676	27853745	GGGGGGGT others(563): Show GGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGTTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CTGCCCTGTCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAGC CGCCTCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG00597.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0109 a0001c0001t0001g0002 a0001c0001t0001g0109	2	332	0.0060	-570	c.33 others(11): Show c.3300_*3869del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					2070		chr1	TogoVar
SNTG2_chr2_945849_1372613	1342472	CTTTTCCC others(563): Show CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCC CTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTC TCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGAC TCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACA GCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCA TAGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	188	0.0053	-570	c.148 others(21): Show c.1489-24867_1489-24298del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
THBS3_chr1_155190588_155212897	155190828	GCTTGGGG others(563): Show GCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGT GGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTGGG CTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGG GGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCC TGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCC GGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGC GGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGG CTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGA GGGCCGAGGTGACATCGTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(100): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0002g0050 a0001c0008t0001g0051 a0002c0002t0001g0003 a0003c0004t0001g0015 a0004c0006t0001g0047 a0005c0005t0001g0032	103	296	0.3480	-570	c.44 others(11): Show c.4443_*5012del		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4759		chr1	TogoVar
TMCO3_chr13_113486021_113555229	113541403	ATCGCTGA others(563): Show ATCGCTGATCACTGCCATGCTTTAATACCGCCGAGATATGTGGATGATAC GCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGATTGCTGATCACTGCCATGCTTTATTACCGCTGAGT TGTGTGGGTGCCATGCACACGATTGCTGATGACTGCCATGCTTTATTACC GTCCAGATGTGTGGATGATACGCACACGATTGCTGATCACTGCCATGCTT TATTACCGCCGAGATGTGTGGATGATACGCACACGATCGCTGATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGATCGCTGA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGA TCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACG CACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGAT GTGTGGATGATACGCACACGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0257 a0002c0003t0003g0257	1	365	0.0027	-570	c.169 others(19): Show c.1690+1920_1690+2489del		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM87B_chr2_112050269_112124314	112114408	AAAGATTC others(563): Show AAAGATTCATAACTCTACAGAAAGACGTAGCATTACAGAAAGATTCATAA CTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAG ATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTAC AGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCAT AACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAA AGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATT ACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTC ATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAG AAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCA TTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGAT TCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTAC AGAAAGATGTAGCATTACAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0286 a0001c0004t0010g0287 a0001c0004t0010g0286 a0001c0004t0010g0287	2	314	0.0064	-570	c.160 others(19): Show c.1608+1504_1609-1082del		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM5_chr11_2399515_2449514	2429051	GGTGGTGG others(563): Show GGTGGTGGTGATGATGGTTGTGGTGGTGGTGATGATAGTGGAGGTGGTAG TAATGATGATGGTGGTGGTAGCTGGTAGTGGTGGCAGTGGTGGTGATGGT GATGATTGTGGTGATGGTGATGGGGTAGTGGTGGTTATGGTGGTGTTGGT TGTTATGGTGGTAGTGATGATCATGGTGGTGGTGACTATAGTCACTGGTG ATGCTGGTGTTCATGGTGATGGTGATGATGATAGTGGTGGTGGTTGTGGC AGTGCTGCTGCTGATGGTGGTGGTGATGATGAGGGTGATGATGACAATGA GTATGATGATGGTGGTGGTGATGATCGTGGTTGTGGTGTGTTGATGGTGG TGTTTATTGTGGCGGTGATGATGATAGTGTTAATAATTGTGGTGATGTTG GTGATGGTGGTGATGGAGACGATGATGGTGATGATTGTACTGGTGGTGTT GGTGATGGTGTGGTACGATGGTGGTGCTGATGGTCATGATGGTGGTGGGG GTGATAATGATCCTGGTGGTGGCCATGGTGGTGTTTTTGATAACGTGATA ATGTTGGAGATGGTGGTGATT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	424	0.0024	-570	c.-40 others(19): Show c.-406-1868_-406-1299del		TRPM5	ENSG00000070985.14	transcript	ENST00000696290.1	protein_coding	3/28						chr11	TogoVar

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