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
KIF1A_chr2_240708767_240825219	240786775	A A	AGGACCCC others(761): Show AGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGA TGGGAGCCAGCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTG GGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCA GGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGA GGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCAT CAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGA GAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCAT CAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGA GAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACC ACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATC AGGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAG GGGGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	330	0.0030	768	c.430 others(783): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCC CCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTA CCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGG TCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCC TACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCT CCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGG TCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCC TACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGG GGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCC CCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGC CCCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGG GTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCC		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
LARS1_chr5_146108034_146187650	146174525	T T	TATATATC others(761): Show TATATATCCATATATATATATCCATATATATATCCATATATATATCCATA TATATATATCCATATATATATCCATATATATATATCCATATATATATCCA TATATATATATCCATATATATGGATATATATATATCCATATATATCTATC CATATATATATCCATATATATCTATCCATATATATATCCATATATCTATC CATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATCCATATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATATCCATATATATATATCCATATATA TATATATATCCATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	284	0.0035	768	c.126 others(785): Show c.126-1752_126-1751insGGATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATATGG ATATATATATATGGATATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATATGGATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATGGATAGATAT ATGGATATATATATGGATAGATATATATGGATATATATATGGATAGATAT ATATGGATATATATATATCCATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATGGATATATATATATGGATAT ATATATGGATATATATATGGATATATATATATGGATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(761): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATAGTCAT ATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTAT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATAT ATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAG TTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	768	c.-30 others(779): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATA TGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTA AAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATG		LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding					2931		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(761): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATC TACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0272 a0001c0002t0004g0272	1	290	0.0035	768	c.129 others(787): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTTACACTCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(761): Show CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0060 a0009c0060	a0009c0060t0001 a0009c0060t0001	a0009c0060t0001g0267 a0009c0060t0001g0267	1	362	0.0028	768	c.391 others(783): Show c.391+844_391+845insCCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(761): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCAC CAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	292	0.0034	768	c.377 others(785): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(761): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCTCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0034 a0034	a0034c0088 a0034c0088	a0034c0088t0005 a0034c0088t0005	a0034c0088t0005g0070 a0034c0088t0005g0070	1	292	0.0034	768	c.377 others(785): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGAGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(761): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCC GCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTC TCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02622.hp1 others(9): Show HG02257.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0004 a0002c0007 a0004c0005 others(1): Show a0002c0004 a0002c0007 a0004c0005 a0009c0011	a0002c0004t0001 a0002c0007t0001 a0004c0005t0001 others(1): Show a0002c0004t0001 a0002c0007t0001 a0004c0005t0001 a0009c0011t0001	a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0007t0001g0003 others(9): Show a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0007t0001g0003 a0002c0007t0001g0018 a0002c0007t0001g0032 a0002c0007t0001g0034 a0004c0005t0001g0019 a0004c0005t0001g0027 a0004c0005t0001g0028 a0004c0005t0001g0035 a0004c0005t0001g0133 a0009c0011t0001g0031	12	140	0.0857	768	c.133 others(787): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC ACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCC ACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCC GCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(761): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCA TCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCG CAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCAC CATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTC TCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	140	0.0071	768	c.133 others(787): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC ACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCA CCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCC GCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCA GCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCA CCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(761): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCC GCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTC TCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0033	1	140	0.0071	768	c.133 others(787): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC GCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCC ACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCC GCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC4_chr3_195741771_195816929	195770986	C C	CGGGTTGG others(761): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCA GTCTCGTCGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCG GGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCTGGGTT GGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGT CTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGG TATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCG CGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATT CCTGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0123 a0123	a0123c0170 a0123c0170	a0123c0170t0005 a0123c0170t0005	a0123c0170t0005g0240 a0123c0170t0005g0240	1	249	0.0040	768	c.132 others(787): Show c.13243-616_13243-615insAACCACGAGACTGACCAGGAATACCC CAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCAG CCACGAGACTGACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGA CCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC GGCCGCGAGACTGACCAGGAATACCCCAACCCAACGACGAGACTGACCAG GAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCC ACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAAT ACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195782207	C C	CGGTAACA others(761): Show CGGTAACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTG GTGACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGA CAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACA GGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAG AAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAA GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGA GGGGTGGCATGACCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACG GGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATGGG TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGT GTGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA CCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACC TGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTG TGGATGCTGAGGAAGGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0027 a0027	a0027c0010 a0027c0010	a0027c0010t0001 a0027c0010t0001	a0027c0010t0001g0078 a0027c0010t0001g0141 a0027c0010t0001g0078 a0027c0010t0001g0141	2	249	0.0080	768	c.937 others(777): Show c.9372_9373insAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCT CTTCCTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACGCCTCT TCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTC ATGTCACCGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCT GTCACCAGCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGT CACCGACGCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCA CCGACACTTCCTCAGCATCCACAGGTCACGCCACCCATCTTCCTGTCACC GGCCTTTCCTCAGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCGA CGTTTCCTCGGCATCCACAGGTCATGCCACCCCTCTTCCTGTCACCAGCA CTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACACT TCCTCAGTATCCACAGGTCACACCACCCCTCTTCTTGTCACCGACGCTTC GTCAGTATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCT CAGCATCTACAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCA GCATCCACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATT ATCCACACGTCACGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCAT CCACCGGTCACGCCACCCCTCTTCCTGTTACC	p.Thr others(783): Show p.Thr3124_Asp3125insSerProSerSerAlaSerThrGlyHisAla ThrProLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrTh rProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaThrP roLeuHisValThrAspAlaSerSerValSerThrGlyAspThrThrPro LeuProValThrSerProSerSerAlaSerSerGlyHisThrThrProLe uProValThrAspAlaSerSerAlaSerThrGlyAspThrThrProLeuP roValThrAspThrSerSerAlaSerThrGlyHisAlaThrHisLeuPro ValThrGlyLeuSerSerAlaSerThrGlyAspThrThrArgLeuProVa lThrAspValSerSerAlaSerThrGlyHisAlaThrProLeuProValT hrSerThrSerSerAlaSerThrGlyAspThrThrProLeuProGlyThr AspThrSerSerValSerThrGlyHisThrThrProLeuLeuValThrAs pAlaSerSerValSerThrGlyAspThrThrArgLeuProValThrSerP roSerSerAlaSerThrGlyHisThrThrProLeuProValThrAspThr ProSerAlaSerThrGlyAspThrThrProLeuProValThrAsnAlaSe rSerLeuSerThrArgHisAlaThrSerLeuHisValThrSerProSerS erAlaSerThrGlyHisAlaThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9484/16756	9372/16239	3124/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784498	A A	ACTGAGGA others(761): Show ACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGC TGAGGAAGTGCTGGTGACAGGAAGAGAGGTGGCGTGACCGGTGGATGCTG AGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAG GAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATAATGAGGA AGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGG CTGGTGACAGGAAGAGGGGTGGTGTCACCTTTGGATGCTGAGGTAGTGTC GGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAG TGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGAC ATGAAGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGACAG GAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAAGA AGAGAGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAG AGGGGTGGTGTGACCTGTGGAAGCTGAGGAAGGGATGGTTACAGGAAGAG AGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGCGTGTCCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04199.hp2 HG04199.hp2	a0119 a0119	a0119c0168 a0119c0168	a0119c0168t0001 a0119c0168t0001	a0119c0168t0001g0082 a0119c0168t0001g0082	1	249	0.0040	768	c.708 others(777): Show c.7081_7082insCATCCACAGGACACGCCACCCCTCTTCCTGTCACCG ACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTAACCATC CCTTCCTCAGCTTCCACAGGTCACACCACCCCTCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTCAGGCCACCTCTCTTCTTGTCACCGACACTT CCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCACTTCC TCAGCATCCACAGGTCACGTCACTCCTCTTCATGTCACCAGCCCTTCCTC AGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAG CATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAGCA TCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTACCTCAGCATC CAAAGGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCTA CAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACA GGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACAGG TCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTC ACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGGTCAC GCCACCTCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGGTCACGC CACCCCTCTTCCTGTCACCGACAATTCCTCAG	p.Ser others(783): Show p.Ser2360_Val2361insAlaSerThrGlyHisAlaThrProLeuPro ValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVa lThrIleProSerSerAlaSerThrGlyHisThrThrProLeuProValT hrAspThrSerSerAlaSerThrGlyGlnAlaThrSerLeuLeuValThr AspThrSerSerValSerThrGlyAspThrThrProLeuProValThrSe rThrSerSerAlaSerThrGlyHisValThrProLeuHisValThrSerP roSerSerAlaSerThrGlyHisAlaThrProLeuProValThrSerLeu SerSerAlaSerThrGlyAspThrMetProLeuProValThrSerProSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrThrS erAlaSerLysGlyAspThrThrProLeuProValThrSerProSerSer AlaSerThrGlyHisThrThrProLeuProValThrAspThrSerSerAl aSerThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeuS erThrGlyHisAlaThrProLeuHisValThrSerProSerSerAlaSer ThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSerTh rGlyHisAlaThrSerLeuProValThrSerThrSerSerAlaSerThrG lyHisAlaThrProLeuProValThrAspAsnSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7193/16756	7081/16239	2361/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784631	G G	GACCTGTG others(761): Show GACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCC TGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTGACCTG TGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATA CTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCT GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGA GGAAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGG AAGCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAA GCGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAAC GTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGC CGGTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGA CAGGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0077 a0077	a0077c0148 a0077c0148	a0077c0148t0008 a0077c0148t0008	a0077c0148t0008g0198 a0077c0148t0008g0198	1	249	0.0040	768	c.694 others(777): Show c.6948_6949insGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTCAGCTTCC ACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCAC AGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAG GTCACGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGT CACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGA CACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACA CCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCAC CCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCC CTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCT CTTCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCT TCCTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTC CTGTCACCGACGCTTCCTCAGTGTCCACAGGT	p.Gly others(783): Show p.Gly2316_His2317insAspThrThrProLeuProValThrSerPro SerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAl aSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValS erThrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSer ThrGlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThrG lyAspThrThrProLeuProValThrAspThrSerSerValSerThrGly HisAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHi sAlaThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnA laThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAla IleProLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaTh rProLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7060/16756	6948/16239	2316/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786016	G G	GTGGCGTG others(761): Show GTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAGGAAGAGGCGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGG CGTGACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGACG TGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTG ACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGTGTGAC CTGAGGATGATGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCCTGACCT GTGGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTCACCTGT GGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGG ATACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGAT ACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGC TGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAG GAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGA AAGGCTGGTGACAGGAAGAGGCGTGGCGTGACCGGTGGATACTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGCG CCGGTGACAGGAAGAGTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0113 a0113	a0113c0189 a0113c0189	a0113c0189t0011 a0113c0189t0011	a0113c0189t0011g0206 a0113c0189t0011g0206	1	249	0.0040	768	c.556 others(777): Show c.5563_5564insGCACTCTTCCTGTCACCGGCGCTTCCTCAGCATCCA CCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACC GGTCACGCCACGCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGG TGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACAGGTC AGGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGAC ACCACCCGTCTTCCTGTCACGGACACTTCCTCAGCATCCACAGGTCAGGC CACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCA CCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACC CCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCG TCTTCCTGTCACGGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTC TTCCTGTCACCATCCCTTCCTCATCATCCTCAGGTCACACCACCCCTCTT CCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCA TGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTCCTG TCACCAGCACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCTTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCAC CGACGCTTCCTCAGTATCCACAGGTCACGCCA	p.Thr others(783): Show p.Thr1854_Thr1855insSerThrLeuProValThrGlyAlaSerSer AlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerVa lSerThrGlyHisAlaThrProLeuProValThrSerLeuSerSerValS erThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSer ThrGlyGlnAlaThrProLeuProValThrAspThrSerSerAlaSerTh rGlyAspThrThrArgLeuProValThrAspThrSerSerAlaSerThrG lyGlnAlaThrProLeuProValThrSerLeuSerSerValSerThrGly AspThrThrProLeuLeuValThrAspAlaSerSerValSerThrGlyHi sAlaThrProLeuProValThrAspThrSerSerAlaSerThrGlyAspT hrThrArgLeuProValThrAspThrSerSerAlaSerThrGlyGlnAla ThrProLeuProValThrIleProSerSerSerSerSerGlyHisThrTh rProLeuProValThrSerThrSerSerValSerThrGlyHisValThrP roLeuHisValThrSerProSerSerAlaSerThrGlyHisValThrPro LeuProValThrSerThrSerSerAlaSerThrGlyHisAlaThrProLe uLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspAlaSerSerValSerThrGlyHisAla	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5675/16756	5563/16239	1855/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786471	G G	GGAAGTGT others(761): Show GGAAGTGTCGGTAACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGG AAGTGCTGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAA GTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGT GTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT CGGTGTCAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGA CAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACA GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGG AAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAA GAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGA GGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGG TGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGCGAGGTG GCGTGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC GTGACCTGTGGACACTGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0027 a0027	a0027c0010 a0027c0010	a0027c0010t0001 a0027c0010t0001	a0027c0010t0001g0078 a0027c0010t0001g0141 a0027c0010t0001g0078 a0027c0010t0001g0141	2	249	0.0080	768	c.510 others(777): Show c.5108_5109insGTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGT CACCGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCTTCCTGTCA CCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGA CGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACG CTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCACCGACACT TCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTCTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGC ATCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTTCCTCAGCATCC ACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCAC AGGTCACGCCACCCTTCTTCCTGTCACCGACACTTCCTCAGCATCCACAG GTCAGGCCACCGCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGTTACCGACACTTC	p.Ser others(783): Show p.Ser1703_Ser1704insSerValSerThrGlyHisAlaThrSerLeu ProValThrAspAlaSerSerValPheThrGlyHisAlaThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrProLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVal ThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValTh rAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValThrA spThrSerSerValSerThrGlyHisAlaThrProLeuProLeuThrSer LeuSerSerValSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuS erSerValSerThrGlyAspThrThrProLeuProValThrAspThrSer SerAlaSerThrGlyHisAlaThrSerLeuProValThrAspThrSerSe rAlaSerThrGlyHisAlaThrProLeuProAspThrAspThrSerSerA laSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerAla SerThrGlyHisAlaThrLeuLeuProValThrAspThrSerSerAlaSe rThrGlyGlnAlaThrAlaLeuProValThrSerThrSerSerAlaSerT hrGlyAspThrThrProLeuProValThrAspThrSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5220/16756	5108/16239	1703/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCATCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18946.hp1 NA18946.hp1	a0124 a0124	a0124c0113 a0124c0113	a0124c0113t0011 a0124c0113t0011	a0124c0113t0011g0088 a0124c0113t0011g0088	1	249	0.0040	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGATGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GAGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp2 HG00741.hp1 HG01069.hp1 others(3): Show HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01515.hp1	a0001 a0039 a0001 a0039	a0001c0015 a0001c0016 a0001c0114 others(1): Show a0001c0015 a0001c0016 a0001c0114 a0039c0026	a0001c0015t0002 a0001c0016t0002 a0001c0114t0002 others(1): Show a0001c0015t0002 a0001c0016t0002 a0001c0114t0002 a0039c0026t0001	a0001c0015t0002g0070 a0001c0015t0002g0085 a0001c0016t0002g0180 others(3): Show a0001c0015t0002g0070 a0001c0015t0002g0085 a0001c0016t0002g0180 a0001c0016t0002g0181 a0001c0114t0002g0084 a0039c0026t0001g0050	6	249	0.0241	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACTCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCAGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp2 HG00609.hp1 NA19090.hp2 HG00558.hp2 HG00609.hp1 NA19090.hp2	a0001 a0013 a0001 a0013	a0001c0017 a0013c0115 a0001c0017 a0013c0115	a0001c0017t0001 a0013c0115t0001 a0001c0017t0001 a0013c0115t0001	a0001c0017t0001g0104 a0001c0017t0001g0105 a0013c0115t0001g0106 a0001c0017t0001g0104 a0001c0017t0001g0105 a0013c0115t0001g0106	3	249	0.0121	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACTGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(103): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02698.hp1 HG02895.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(52): Show a0001 a0003 a0005 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0022 a0025 a0026 a0028 a0029 a0033 a0034 a0035 a0037 a0040 a0044 a0047 a0049 a0052 a0058 a0063 a0065 a0067 a0068 a0070 a0071 a0094 a0097 a0101 a0107 a0114 a0119 a0125 a0127 a0129 a0130 a0131 a0134 a0135 a0136 a0138 a0141 a0142 a0144 a0148 a0149 a0150	a0001c0004 a0001c0006 a0001c0018 others(87): Show a0001c0004 a0001c0006 a0001c0018 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0074 a0001c0075 a0001c0077 a0001c0095 a0003c0002 a0003c0039 a0003c0097 a0003c0098 a0003c0099 a0003c0100 a0003c0118 a0005c0083 a0005c0090 a0005c0091 a0005c0092 a0005c0093 a0008c0005 a0008c0084 a0009c0070 a0009c0071 a0009c0072 a0009c0112 a0010c0013 a0010c0068 a0011c0096 a0011c0101 a0011c0102 a0012c0057 a0012c0058 a0012c0059 a0013c0086 a0013c0087 a0015c0064 a0015c0079 a0016c0051 a0016c0052 a0017c0081 a0017c0082 a0018c0014 a0022c0012 a0025c0062 a0025c0067 a0026c0011 a0028c0065 a0028c0066 a0029c0106 a0033c0122 a0034c0085 a0035c0117 a0037c0042 a0040c0108 a0044c0116 a0047c0107 a0049c0119 a0052c0120 a0058c0060 a0063c0111 a0065c0050 a0067c0127 a0068c0110 a0070c0027 a0071c0109 a0094c0167 a0097c0105 a0101c0123 a0107c0094 a0114c0144 a0119c0168 a0125c0073 a0127c0076 a0129c0061 a0130c0069 a0131c0088 a0134c0025 a0135c0104 a0136c0103 a0138c0078 a0141c0080 a0142c0166 a0144c0040 a0148c0125 a0149c0089 a0150c0063	a0001c0004t0001 a0001c0006t0001 a0001c0018t0010 others(87): Show a0001c0004t0001 a0001c0006t0001 a0001c0018t0010 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0074t0001 a0001c0075t0001 a0001c0077t0001 a0001c0095t0001 a0003c0002t0001 a0003c0039t0001 a0003c0097t0001 a0003c0098t0001 a0003c0099t0001 a0003c0100t0001 a0003c0118t0001 a0005c0083t0001 a0005c0090t0001 a0005c0091t0001 a0005c0092t0016 a0005c0093t0001 a0008c0005t0001 a0008c0084t0001 a0009c0070t0001 a0009c0071t0001 a0009c0072t0001 a0009c0112t0001 a0010c0013t0001 a0010c0068t0001 a0011c0096t0001 a0011c0101t0001 a0011c0102t0001 a0012c0057t0001 a0012c0058t0001 a0012c0059t0001 a0013c0086t0001 a0013c0087t0001 a0015c0064t0001 a0015c0079t0001 a0016c0051t0001 a0016c0052t0001 a0017c0081t0001 a0017c0082t0001 a0018c0014t0001 a0022c0012t0001 a0025c0062t0001 a0025c0067t0001 a0026c0011t0001 a0028c0065t0001 a0028c0066t0001 a0029c0106t0001 a0033c0122t0001 a0034c0085t0001 a0035c0117t0001 a0037c0042t0001 a0040c0108t0001 a0044c0116t0001 a0047c0107t0001 a0049c0119t0001 a0052c0120t0001 a0058c0060t0001 a0063c0111t0001 a0065c0050t0001 a0067c0127t0001 a0068c0110t0001 a0070c0027t0001 a0071c0109t0001 a0094c0167t0001 a0097c0105t0001 a0101c0123t0001 a0107c0094t0002 a0114c0144t0001 a0119c0168t0001 a0125c0073t0001 a0127c0076t0001 a0129c0061t0001 a0130c0069t0001 a0131c0088t0001 a0134c0025t0001 a0135c0104t0001 a0136c0103t0001 a0138c0078t0001 a0141c0080t0001 a0142c0166t0001 a0144c0040t0001 a0148c0125t0001 a0149c0089t0001 a0150c0063t0001	a0001c0004t0001g0075 a0001c0004t0001g0093 a0001c0004t0001g0094 others(102): Show a0001c0004t0001g0075 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0006t0001g0101 a0001c0006t0001g0102 a0001c0006t0001g0133 a0001c0018t0010g0003 a0001c0018t0010g0004 a0001c0053t0001g0132 a0001c0054t0001g0110 a0001c0055t0001g0086 a0001c0056t0001g0131 a0001c0074t0001g0096 a0001c0075t0001g0159 a0001c0077t0001g0098 a0001c0095t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0120 a0003c0002t0001g0128 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0039t0001g0124 a0003c0097t0001g0118 a0003c0098t0001g0122 a0003c0099t0001g0172 a0003c0100t0001g0121 a0003c0118t0001g0182 a0005c0083t0001g0117 a0005c0090t0001g0164 a0005c0091t0001g0053 a0005c0092t0016g0247 a0005c0093t0001g0119 a0008c0005t0001g0063 a0008c0005t0001g0064 a0008c0005t0001g0066 a0008c0084t0001g0136 a0009c0070t0001g0169 a0009c0071t0001g0095 a0009c0072t0001g0171 a0009c0112t0001g0109 a0010c0013t0001g0076 a0010c0013t0001g0113 a0010c0068t0001g0073 a0011c0096t0001g0077 a0011c0101t0001g0130 a0011c0102t0001g0129 a0012c0057t0001g0108 a0012c0058t0001g0142 a0012c0059t0001g0115 a0013c0086t0001g0163 a0013c0087t0001g0127 a0015c0064t0001g0151 a0015c0079t0001g0157 a0016c0051t0001g0134 a0016c0052t0001g0138 a0017c0081t0001g0202 a0017c0082t0001g0200 a0018c0014t0001g0072 a0018c0014t0001g0100 a0022c0012t0001g0114 a0022c0012t0001g0156 a0025c0062t0001g0147 a0025c0067t0001g0090 a0026c0011t0001g0177 a0026c0011t0001g0178 a0028c0065t0001g0056 a0028c0066t0001g0153 a0029c0106t0001g0144 a0033c0122t0001g0052 a0034c0085t0001g0173 a0035c0117t0001g0165 a0037c0042t0001g0143 a0040c0108t0001g0081 a0044c0116t0001g0107 a0047c0107t0001g0145 a0049c0119t0001g0031 a0052c0120t0001g0091 a0058c0060t0001g0092 a0063c0111t0001g0051 a0065c0050t0001g0203 a0067c0127t0001g0158 a0068c0110t0001g0103 a0070c0027t0001g0199 a0071c0109t0001g0174 a0094c0167t0001g0067 a0097c0105t0001g0139 a0101c0123t0001g0183 a0107c0094t0002g0123 a0114c0144t0001g0008 a0119c0168t0001g0082 a0125c0073t0001g0150 a0127c0076t0001g0097 a0129c0061t0001g0161 a0130c0069t0001g0162 a0131c0088t0001g0135 a0134c0025t0001g0137 a0135c0104t0001g0087 a0136c0103t0001g0111 a0138c0078t0001g0099 a0141c0080t0001g0201 a0142c0166t0001g0176 a0144c0040t0001g0160 a0148c0125t0001g0065 a0149c0089t0001g0071 a0150c0063t0001g0149	106	249	0.4257	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACCGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19007.hp1 NA19007.hp1	a0140 a0140	a0140c0038 a0140c0038	a0140c0038t0001 a0140c0038t0001	a0140c0038t0001g0148 a0140c0038t0001g0148	1	249	0.0040	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC GGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02004.hp2 HG02004.hp2	a0066 a0066	a0066c0048 a0066c0048	a0066c0048t0001 a0066c0048t0001	a0066c0048t0001g0146 a0066c0048t0001g0146	1	249	0.0040	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACACTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(761): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCGG TGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGAC AGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAG GAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAG GGGTGGTGTCGCCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGG TGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGTG TCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGAC CTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCT GTGGAAGCTGAAGAAAGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01261.hp2 HG01261.hp2	a0053 a0053	a0053c0049 a0053c0049	a0053c0049t0001 a0053c0049t0001	a0053c0049t0001g0054 a0053c0049t0001g0054	1	249	0.0040	768	c.346 others(777): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGCGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATC CACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Thr others(783): Show p.Thr1156_Asp1157insGlyLeuSerSerAlaSerThrAspAspThr ThrArgLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIl eProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSer LeuProValThrIleProSerSerAlaSerSerGlyHisThrThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuL euValThrAspAlaSerSerValSerThrGlyAspThrThrProLeuPro ValThrAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisVa lThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValT hrSerLeuSerSerAlaSerThrGlyAspThrThrProLeuProValThr SerProSerSerAlaSerSerGlyHisThrThrProLeuProValThrAs pAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrAspA laSerSerValSerThrGlyHisAlaThrProLeuProValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrAspThrSe rSerValSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerS erAlaSerThrGlyAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(761): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATACATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATTTATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATAATATATTTATATTGAATATTATATATTTATATATTATATATAATA TATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATA TTGAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATAAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG01884.hp1 others(12): Show HG00438.hp1 HG01168.hp2 HG01884.hp1 HG01981.hp2 HG02258.hp1 HG02486.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0020t0004	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0041 others(12): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0082 a0001c0001t0003g0119 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0012g0066 a0001c0001t0018g0095 a0001c0020t0004g0140	15	170	0.0882	768	c.166 others(787): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATACATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATAATATATTTATATTGAATATTATATA TTTATATATTATATATAATATATTTATATTGAATATTATATATTTATATA TTATATATAATATATTTATATTGAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATAAATATATAT		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(761): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATACATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTATATATTATATATTTATATATTATTTATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATAATATATTTATATTGAATATTATATATTTATATATTATATATAATA TATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATA TTGAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATAAATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	170	0.0059	768	c.166 others(787): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATACATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTATATATTATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATAATATATTTATATTGAATATTATATA TTTATATATTATATATAATATATTTATATTGAATATTATATATTTATATA TTATATATAATATATTTATATTGAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATAAATATATAT		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
NCKAP5_chr2_132666788_133573463	133504330	G G	GGCACCCC others(761): Show GGCACCCCTGTCCAGCACTTTAGGATCCTCATTGGATGTCTCATCAAAGC ACAGAGGAAGGTTTCTTTGCACAAGAGAGATTAAGTTGCTATTTAAATCA AAGGACCCCAAGCAGAGGGGGGACATGTTTGAGAAGAGCAACTGTAAAAT AGCCACTGAAGCTATGGCACTGAACCCTAAGGAAGATGGTACCTGGGAGT AACCAACCCATCACCATAGGAAAGGAAAACCACGCAGCTCCTCTCAACTC TGAAACGTGCATGAGATATGTGTGGATGGTGCAAATATTAGCAACATGAG CTTTGCAGCAAGACAGACCTTGCTGTTTACAAGTCCTATGACTTTGAACA AGTTATTTAATTCTTGAGCCTCAGTTTCTTCATCTGTACAATGAAGATAT GATAGTGCCTCACTGTAGAGTTGTTGTGAAAATTAAATGAGCTAATACAA ATTAAAAGTTTCAGTCCAGTGCTCTACTGTAATGTTAGTTGCCACATTAT CATCATCAATTCTACTAATTTAAATGAGAATGAAAAACCATATGGAATAT TCTGAGGCCTTCTGGTTATTCAATAACATCATCATCATTATTTCATACAA ATTGAGGGGGGTGTTTAATTGGCCCCACTCTTTCCATCCCAGAATTCCGA GTTCTATTTATGTCAAGCTACTCTGTCCTGAACAACCTGCTGGATATTGG CCTATTTCCCTTCATCAGAACACACTTGTTCTGTGCCTCATTCTCTCAAA GTCCTTTCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0003 a0008 a0003 a0008	a0003c0025 a0008c0008 a0003c0025 a0008c0008	a0003c0025t0003 a0008c0008t0005 a0003c0025t0003 a0008c0008t0005	a0003c0025t0003g0021 a0008c0008t0005g0068 a0003c0025t0003g0021 a0008c0008t0005g0068	2	70	0.0286	768	c.69+ others(785): Show c.69+13127_69+13128insATCATCTGGTTGAAAGGACTTTGAGAGA ATGAGGCACAGAACAAGTGTGTTCTGATGAAGGGAAATAGGCCAATATCC AGCAGGTTGTTCAGGACAGAGTAGCTTGACATAAATAGAACTCGGAATTC TGGGATGGAAAGAGTGGGGCCAATTAAACACCCCCCTCAATTTGTATGAA ATAATGATGATGATGTTATTGAATAACCAGAAGGCCTCAGAATATTCCAT ATGGTTTTTCATTCTCATTTAAATTAGTAGAATTGATGATGATAATGTGG CAACTAACATTACAGTAGAGCACTGGACTGAAACTTTTAATTTGTATTAG CTCATTTAATTTTCACAACAACTCTACAGTGAGGCACTATCATATCTTCA TTGTACAGATGAAGAAACTGAGGCTCAAGAATTAAATAACTTGTTCAAAG TCATAGGACTTGTAAACAGCAAGGTCTGTCTTGCTGCAAAGCTCATGTTG CTAATATTTGCACCATCCACACATATCTCATGCACGTTTCAGAGTTGAGA GGAGCTGCGTGGTTTTCCTTTCCTATGGTGATGGGTTGGTTACTCCCAGG TACCATCTTCCTTAGGGTTCAGTGCCATAGCTTCAGTGGCTATTTTACAG TTGCTCTTCTCAAACATGTCCCCCCTCTGCTTGGGGTCCTTTGATTTAAA TAGCAACTTAATCTCTCTTGTGCAAAGAAACCTTCCTCTGTGCTTTGATG AGACATCCAATGAGGATCCTAAAGTGCTGGACAGGGGTGC		NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19						chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(761): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATATATACACATACATGGTATATATTCCATATATACA TACATGGTATATATTCCATATATACATACATGGTATATATTCCAATATAT ACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCAT ATATATACATACATGGTATATATTCCATATATATATACATACATGGTATA TATTCCATATATATACATACATGGAATATATATATTCCATACATGGAATA TATATATTCCATATATACATATATATATTCCATATATACACATATATATA TTCCATATATACACATATACATGGAATATATATCTGTATATATATGGAAT ATATATATGTATATATATGAAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATTTATAATATAAATATATATTATGTATATATATTTAT ATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0061 a0001c0001t0001g0002 a0001c0001t0004g0061	2	66	0.0303	768	c.474 others(787): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATACATACATGGTATATATTCC ATATATATATACACATACATGGTATATATTCCATATATATATACACATAC ATGGTATATATTCCATATATACATACATGGTATATATTCCATATATACAT ACATGGTATATATTCCAATATATACATACATGGTATATATTCCATATATA TACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCA TATATATATACATACATGGTATATATTCCATATATATACATACATGGAAT ATATATATTCCATACATGGAATATATATATTCCATATATACATATATATA TTCCATATATACACATATATATATTCCATATATACACATATACATGGAAT ATATATCTGTATATATATGGAATATATATATGTATATATATGAAATATAT ATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATTTATAATATAAAT ATATATTATGTATATATATTTATATTATAAATATATATTATG		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6						chr6	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(761): Show TCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCTC TCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0102 a0001c0002t0059g0102	1	326	0.0031	768	c.433 others(785): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(761): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCTC CCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0077 a0001c0001t0043g0077	1	326	0.0031	768	c.433 others(785): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGG GGAGGAGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(761): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACAGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGG TCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	242	0.0041	768	c.360 others(787): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCG TGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCAC AGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC TCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACC TTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCT GCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGAC TGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(761): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATGTGTGTATATATGCATATATGTATATGCAT GTGTGTATATATGCATATATGTATATGCATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATATGTATATGCATATGTGTGTATATATACACAT ATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATGC ATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATAT ATACACATATACATGTATATGCATATGTGTGTATATATACACATATACAT GTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATGT GTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACAC ATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATATATACACATATAC ATGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATAT GTGTGTATATATACACATATATGTGTGTGTATATATATGTGTGTGTATAT ATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	456	0.0022	768	c.31 others(779): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATGTGTGTATATATGCA TATATGTATATGCATGTGTGTATATATGCATATATGTATATGCATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTG TGTATATATACACATATACATGTATATGCATATGTGTGTATATATACACA TATACATGTATATGCATATGTGTGTATATATACACATATACATGTATATG CATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATA TATACACATATACATGTATATGCATATGTGTGTATATATACACATATACA TGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATG TGTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TATATACACATATACATGTATATGCATATGTGTGTATATATACACATATA CATGTATATGCATATGTGTGTATATATACACATATATGTGTGTGTATATA TATGTGTGTGTATATATACACATATATATGTGTG		OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding					2997		chr4	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(761): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	768	c.-26 others(779): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATATGTCTATCGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PERM1_chr1_970198_987093	977690	G G	GCTCCCCC others(761): Show GCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG GGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACC CCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCAC CCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC CACCCCGCCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAAC CGCCTCCCAATCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCC GAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0019 a0009c0013t0019	a0009c0013t0019g0210 a0009c0013t0019g0210	1	408	0.0025	768	c.215 others(787): Show c.2150-1067_2150-1066insTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTG GCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGATTGGGAGGCGGTTCCCG GGGTTGGTGGGGGTGGGAGGCGGTTCCCGGGGTTGGCGGGGTGGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGG GAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGT CGGTGGGGGCAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTT GGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(761): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	250	0.0040	768	c.309 others(787): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(761): Show CCCCCTGCACAACCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACAACCTCCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACCCC TTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTG CACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACACCCCA CAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCC CTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCCTGCAC ACCCCACCCCCTCCCCTGCACACCCAACCTCCCCCTGCACACCCCACAAC CTCCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC GCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACC CCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAAC CTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC TGCACACCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCA CCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCC CCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0060 a0030c0026t0060	a0030c0026t0060g0169 a0030c0026t0060g0169	1	210	0.0048	768	c.147 others(785): Show c.1477+398_1477+399insACCCACAACCTCCCCTGCACACCCCCAC CCCCTCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACAACCTCCC CCTGCACACCCCACAACCTCCCCCTGCACACCCCCACCCCCTCCCCTGCA CACCCCACCCCTTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCAC CCCTTCCGCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCC TGCACACCCCACAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACC AACCCACTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCA CTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCAACCTCCCCCTGCA CACCCCACAACCTCCCCCTGCACACCCCACAACCTCCCCTGCACACCCCC ACCCCCTCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTC CCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCA CACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCC ACCCCCTCCCCTGCACACCCCCCTCTCCCCTGCACACCCCCACCCACTCC CCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACA CGCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCC CCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACA		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(761): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACAACCTCCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACCCC TTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCACCCCTTCCGCTG CACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACACCCCA CAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCCC CTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCCTGCAC ACCCCACCCCCTCCCCTGCACACCCAACCTCCCCCTGCACACCCCACAAC CTCCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC GCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACC CCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAAC CTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC TGCACACCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCA CCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCC CCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 NA18906.hp1 HG02486.hp2 HG02809.hp1 NA18906.hp1	a0013 a0026 a0013 a0026	a0013c0027 a0013c0066 a0026c0080 a0013c0027 a0013c0066 a0026c0080	a0013c0027t0049 a0013c0066t0051 a0026c0080t0043 a0013c0027t0049 a0013c0066t0051 a0026c0080t0043	a0013c0027t0049g0171 a0013c0066t0051g0170 a0026c0080t0043g0177 a0013c0027t0049g0171 a0013c0066t0051g0170 a0026c0080t0043g0177	3	210	0.0143	768	c.147 others(785): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACAACCTCCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCCACCCCCTCCCCTGCACACC CCACCCCTTCCGCTGCACACCCCACCCCCTCCCCTGCACACCCCACCCCT TCCGCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCA CACCCCACAACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACC CACTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCC CCTGCACACCCCACCCCCTCCCCTGCACACCCAACCTCCCCCTGCACACC CCACAACCTCCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCC CCTCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCT GCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACC CCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCC CCTCCCCTGCACACCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTG CACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCA CACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCAT CCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150197676	C C	CCACGGTG others(761): Show CCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCAC GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGG TGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTG GAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGA GGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGG AGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAG GGCCTGGATGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGG CCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCC TGGATGCCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTG GATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCA GCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGCCCTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	312	0.0032	768	c.307 others(787): Show c.307-16929_307-16928insGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTT TGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTG TGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTG TGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTG CCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCC CCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCC TGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCAGCTTTGTGTGCCCCTG CCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCC CTTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCG CCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTG		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
RASGEF1A_chr10_43189535_43272065	43210843	A A	AGAGCAGC others(761): Show AGAGCAGCAGCCCCTTGCAGGGAGTGGGGGACAGGCTTGCACGCAGCAGC CCCTCTGACTCCTTGGAGCAGCAGCCCCTTGCAGGGAGTTGGGGACAGGC TTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCCCCTTGCAGGG AGTGGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGC AGCTCCTTGCAGGGAGTTGGGGACAGGCTTGCACCCAGTAGCCCCTCTGA CTCCTTGGAGCAGCAGCCCCTTGCAGGGAGTGGGGGACAGGCTTGCACCC AGTAGCCCCTCTGACTCCTTGGAGCAGCAGCTCCTTGCAGGGAGTGGGGG ACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCCCCTT GCAGGGAGTGGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGG AGCAGCAGCCCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAGTAGCCC CTCTGACTCCTTGGAGCAGCAGCTCCTTGCAGGGAGTTGGGGACAGGCTT GCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCCCCTTGCAGGGAG TGGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAG CCCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACT CCTTGGAGCAGCAGCCCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAG TAGCCCCTCTGACTCCTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02809.hp2 NA19043.hp2 HG00735.hp1 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0015g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0015g0147	3	350	0.0086	768	c.-6- others(783): Show c.-6-4722_-6-4721insCAAGGAGTCAGAGGGGCTACTGGGTGCAAG CCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGG CTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCA AGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAG GGGCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCC CAACTCCCTGCAAGGAGCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGG TGCAAGCCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCA GAGGGGCTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAGGGGCTGCT GCTCCAAGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCCACTCCC TGCAAGGAGCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGGTGCAAGCC TGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGGCT ACTGGGTGCAAGCCTGTCCCCAACTCCCTGCAAGGAGCTGCTGCTCCAAG GAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAGGG GCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCA ACTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGGCTGCTGCGTG CAAGCCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTC		RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12						chr10	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(761): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	304	0.0033	768	c.66+ others(783): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(761): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	308	0.0033	768	c.-75 others(787): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCTT others(761): Show TCCACCTTCACCACCACCACCTCCACCACCACCACCTCCACCACCTCCAC CTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCT CCACCACCACCACCACCACCACCTCCACCACCTCCACCTCCACCACCACC TCCACCTTCACCACCACCACCACCACCTCCACCACCACCACCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCACCA CCTCCACCACCACCACCACCACCACCTCCACCTTCACCACCACCTCCACC TCCACCACCACCTCCACCTCCACCACCACCACCACCACCACCACCACCAC CACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCA CCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCACC TCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAC CTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCT CCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACC ACCTCCACCACCTCCACCACCACCACCACCACCTCCACCACCTCCACCTC CACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCT CCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCTCCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	60	0.0167	768	c.299 others(785): Show c.2992+455_2992+456insTCACCACCACCACCTCCACCACCACCAC CTCCACCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCA CCACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCTCC ACCTCCACCACCACCTCCACCTTCACCACCACCACCACCACCTCCACCAC CACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCTTCA CCACCACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCTTC ACCACCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCACCAC CACCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCT TCACCACCACCACCACCACCTCCACCACCTCCACCTCCACCTCCACCACC ACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCAC CACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCTCCA CCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACC TCCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTC CACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCA CCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCC ACCACCACCTCCACCACCACCTCCTCCACCTCCACCACCT		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(761): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0100 a0007c0006t0001g0100	1	290	0.0035	768	c.166 others(785): Show c.1663-342_1663-341insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(761): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTC TTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTC TTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCT CCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCCTTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCTTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03209.hp2 others(1): Show HG02559.hp2 HG02922.hp1 HG03209.hp2 NA20129.hp2	a0001 a0035 a0001 a0035	a0001c0026 a0001c0027 a0001c0048 others(1): Show a0001c0026 a0001c0027 a0001c0048 a0035c0073	a0001c0026t0002 a0001c0027t0020 a0001c0048t0001 others(1): Show a0001c0026t0002 a0001c0027t0020 a0001c0048t0001 a0035c0073t0001	a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0048t0001g0029 others(1): Show a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0048t0001g0029 a0035c0073t0001g0015	4	116	0.0345	768	c.332 others(787): Show c.3324+4149_3324+4150insCTCCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCCTTCCCTCCCT TCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCTTCCCTCCCTTCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(761): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0031 a0002c0003t0008g0031	1	420	0.0024	768	c.107 others(785): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATAGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCTATC others(761): Show CATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC TATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	420	0.0024	768	c.107 others(785): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATAG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATAGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAA others(761): Show ATATATAAAAATATATATAAATATATATATAAATATATATAAAAATATAT ATAAATATATAAATATATATATAAATATATATAAAAATATATATAAATAT ATATAAATATATATAAATATATATATAAGTATATATAAATATATATATAA GTATATATAAATATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATAAATAT ATATATATAAATATATATATAAATATATATAAATATATAAATATATATAA ATACATATAAATATATATAAATACATATAAATATATATAAATATATAAAT ATATATAAATATATAAATATATATAAATATATATAAATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATAAAAATATATAAAAAT ATATATAAATATATATATAAATATATAAAAATATATAAAAATATATATAA ATATATATAAATATATAAATATATATAAATATATATAGAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATAAAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATAAAAATATATTTATATATATAAATAT ATAAAAATATATTTATATATATAAATATATTTATATATAAATATAAATAT ATGTAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0073 a0001c0003t0005g0073	1	186	0.0054	768	c.-50 others(779): Show c.-5060_-5059insTATATAAAAATATATATAAATATATATATAAATA TATATAAAAATATATATAAATATATAAATATATATATAAATATATATAAA AATATATATAAATATATATAAATATATATAAATATATATATAAGTATATA TAAATATATATATAAGTATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATAAATATATATATATAAATATATATATAAATATATATAAATA TATAAATATATATAAATACATATAAATATATATAAATACATATAAATATA TATAAATATATAAATATATATAAATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATAAATATATATATAAATATATA AAAATATATAAAAATATATATAAATATATATATAAATATATAAAAATATA TAAAAATATATATAAATATATATAAATATATAAATATATATAAATATATA TAGAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATAAAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATAAAAATATATT TATATATATAAATATATAAAAATATATTTATATATATAAATATATTTATA TATAAATATAAATATATGTAAATATATATATATT		SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding					4978		chr12	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(761): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCCATC CTTCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTAT CCATCCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0084 a0004c0032t0084	a0004c0032t0084g0207 a0004c0032t0084g0207	1	346	0.0029	768	c.657 others(783): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGT GGGTGTGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGA TAGGTGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATG GATGGATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGA TGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTG CATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGT GCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGT GGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGG GTGTGTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAAT GGAAGGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATG GATGGGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGG TGGGTGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTG AGTGGGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGA TGGATGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTGG		TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25						chr7	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(761): Show CTATTATATATATAATATACCTATTATATATATAATATACCTATTATATA TAATATACCTATTATATATAAAATATACCTATTATATATAATATACCTAT TATATACATTATATATAATATACCTATTATATGCATTATATATAATATAC CTATTATATGCATTATATATAATATACCTATTATATGCATTATATATAAT ATACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATA TAATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTA TATATAATATACCTATTATATGCATTATATAATATATTATATATAATATG CATATTATATGTATTATATATTATATATTATATATATAATATACATATTA TATGTATTATATATAATATATTATATATATAATATACATATTATATGTAT TATATATTATATATAATATACATATTATATATTATATATTATATACATAT TATATATTATATATTATATACATATTATATATTATATATTATATACATAT TATATATTATATATTATATACATATTATATATTATATACATATTATATAT TATATATTATATACATATTATACATTATATATATCTAAAATATATAATAC ACATTATATATTATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	360	0.0028	768	c.62 others(779): Show c.6215_*6216insTATAATGTGTATTATATAATATATAATGTGTATT ATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT ATAATATATAATGTGTATTATATAATATATAATGTGTATTATATATTTTA GATATATATAATGTATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATGTATATAATATATAATATATAATATGTATATAATAT ATAATATATAATATGTATATAATATATAATATATAATATGTATATAATAT ATAATATATAATATGTATATTATATATAATATATAATACATATAATATGT ATATTATATATATAATATATTATATATAATACATATAATATGTATATTAT ATATATAATATATAATATATAATACATATAATATGCATATTATATATAAT ATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAG GTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATATA ATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCA TATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAA TGCATATAATAGGTATATTATATATAATGTATATAATAGGTATATTATAT ATAATAGGTATATTTTATATATAATAGGTATATTATATATAATAGGTATA TTATATATATAATAGGTATATTATATATATAATA		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding					3381		chr20	TogoVar
THEG_chr19_356747_381026	360355	T T	TCTCAGCA others(761): Show TCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTG ACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGCTTTGACTGTGGCTG TCATTCTGACTCCGACGGTCCCGTGGCCCCTCAGGAGGAGCATCAGCTGC TTTGACTGTGGCTGTCATTCTGACTCCGACGGTCCCGTGGCCCCTCAGGA GGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCC GTGGGCCCTCAGGAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCG ACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCATCAGCTGGTTTGACTG TGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTC AGCTGCTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC GTTCTGACTCCGACGGTCCCGTGGGCCCTCAGCAGGAGCATCAGCTGCTT TGACTGTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGT GGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCTGACAGTCCCGTGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0044 a0003c0004t0035g0044	1	370	0.0027	768	c.18 others(779): Show c.1844_*1845insGGCCCACGGGACTGTCAGAGTCGGAACGACAGCC ACAGTCAAACCAGCCGACGCTCCTCCTGAGAGCCCACGGGACCGTCGGAG TCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTCCTGAGGGCCCA CGGGACTGTCAGAGTCGGAACGACAGCCACAGTCAAAGCAGCTGATGCTC CTGCTGAGGGCCCACGGGACCGTCGGAGTCAGAACGACAGCCACAGTCAA ACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACG ACAGCCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCG TCAGAGTCGGAACGACAGCCACAGTCAAAGCAGCTGACGCTCCTGCTGAG GGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCTG ATGCTCCTCCTGAGAGCCCACGGGACCGTCGGAGTCGGAACGACAGCCAC AGTCAAAGCAGCCGACGCTCCTCCTGAGGGCCCACGGGACCGTCAGAGTC GGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTCCTGAGGGGCCACG GGACCGTCGGAGTCAGAATGACAGCCACAGTCAAAGCAGCTGATGCTCCT CCTGAGGGGCCACGGGACCGTCGGAGTCAGAATGACAGCCACAGTCAAAG CAGCCGACGCTCCTCCTGAGGGCCCACGGGACCGTCAGAGTCGGAACGAC AGCCACAGTCAAACCAGCTGATGCTCCTGCTGAG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1391		chr19	TogoVar
THEG_chr19_356747_381026	377422	G G	GCCCCACC others(761): Show GCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTG CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCA GCCTCTCCCCCCCCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	370	0.0027	768	c.-14 others(779): Show c.-1453_-1452insGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCT GGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1397		chr19	TogoVar

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