Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(1599): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCG CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG CCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC CCGGGGT	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02055.hp1	a0084 a0084	a0084c0080 a0084c0080	a0084c0080t0007 a0084c0080t0007	a0084c0080t0007g0199 a0084c0080t0007g0199	1	287	0.0035	1606	c.753 others(1615): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG GCCGGGAGCCCGCGCCCAGA	p.Asp others(6): Show p.Asp2512fs	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088			chr8	TogoVar
FAM187B_chr19_35219800_35233739	35228117	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0002c0006 others(3): Show a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0009t0001 a0007c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0006t0001g0007 a0002c0006t0001g0032 a0002c0008t0001g0014 a0002c0009t0001g0022 a0002c0009t0001g0031 a0007c0014t0001g0026	126	448	0.2813	0	c.564 others(3): Show c.564G>A	p.Trp others(4): Show p.Trp188*	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding	1/2	623/1194	564/1110	188/369			chr19	TogoVar
FAM193A_chr4_2531647_2737573	2536987	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00741.hp2 HG01099.hp1 others(9): Show HG00544.hp2 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01517.hp2 HG02055.hp1 HG02615.hp2 HG03017.hp1 HG03927.hp2 NA18981.hp1 NA18981.hp2 NA19062.hp2	a0002 a0002	a0002c0006 a0002c0011 a0002c0012 others(2): Show a0002c0006 a0002c0011 a0002c0012 a0002c0013 a0002c0014	a0002c0006t0001 a0002c0006t0002 a0002c0006t0017 others(4): Show a0002c0006t0001 a0002c0006t0002 a0002c0006t0017 a0002c0011t0003 a0002c0012t0004 a0002c0013t0002 a0002c0014t0001	a0002c0006t0001g0242 a0002c0006t0001g0268 a0002c0006t0001g0285 others(9): Show a0002c0006t0001g0242 a0002c0006t0001g0268 a0002c0006t0001g0285 a0002c0006t0002g0050 a0002c0006t0002g0060 a0002c0006t0002g0102 a0002c0006t0002g0105 a0002c0006t0017g0096 a0002c0011t0003g0114 a0002c0012t0004g0328 a0002c0013t0002g0018 a0002c0014t0001g0270	12	328	0.0366	1	c.77d others(3): Show c.77dupG	p.Asn others(4): Show p.Asn27fs	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	1/21	347/5522	78/4548	26/1515		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM240B_chr9_38689266_38725133	38703900	G G	A A	stop_gained stop_gained	HIGH	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0287 a0004c0004t0002g0287	1	464	0.0022	0	c.100 others(3): Show c.100C>T	p.Arg others(3): Show p.Arg34*	FAM240B	ENSG00000283329.2	transcript	ENST00000637493.2	protein_coding	2/3	215/862	100/237	34/78			chr9	TogoVar
FAM90A10_chr8_7763977_7776988	7770362	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01099.hp1 HG01109.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02273.hp2 HG03130.hp1 HG03130.hp2 HG03491.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18962.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp2 NA19010.hp2 NA20752.hp2	a0003 a0005 a0009 others(16): Show a0003 a0005 a0009 a0011 a0015 a0016 a0018 a0022 a0023 a0024 a0025 a0028 a0033 a0034 a0035 a0038 a0039 a0040 a0042	a0003c0003 a0005c0005 a0009c0021 others(18): Show a0003c0003 a0005c0005 a0009c0021 a0009c0022 a0011c0027 a0011c0028 a0015c0008 a0016c0020 a0018c0049 a0022c0023 a0023c0035 a0024c0024 a0025c0033 a0028c0026 a0033c0019 a0034c0025 a0035c0029 a0038c0031 a0039c0030 a0040c0032 a0042c0034	a0003c0003t0001 a0005c0005t0001 a0009c0021t0001 others(18): Show a0003c0003t0001 a0005c0005t0001 a0009c0021t0001 a0009c0022t0001 a0011c0027t0001 a0011c0028t0001 a0015c0008t0001 a0016c0020t0001 a0018c0049t0001 a0022c0023t0001 a0023c0035t0001 a0024c0024t0001 a0025c0033t0001 a0028c0026t0001 a0033c0019t0001 a0034c0025t0001 a0035c0029t0001 a0038c0031t0001 a0039c0030t0001 a0040c0032t0001 a0042c0034t0001	a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 others(19): Show a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 a0009c0021t0001g0009 a0009c0022t0001g0009 a0011c0027t0001g0013 a0011c0028t0001g0013 a0015c0008t0001g0001 a0016c0020t0001g0026 a0018c0049t0001g0001 a0022c0023t0001g0028 a0023c0035t0001g0038 a0024c0024t0001g0001 a0025c0033t0001g0037 a0028c0026t0001g0001 a0033c0019t0001g0015 a0034c0025t0001g0001 a0035c0029t0001g0036 a0038c0031t0001g0004 a0039c0030t0001g0004 a0040c0032t0001g0032 a0042c0034t0001g0004	44	126	0.3492	0	c.432 others(5): Show c.432+2T>C		FAM90A10	ENSG00000285950.1	transcript	ENST00000533716.2	protein_coding	3/3						chr8	TogoVar
FAM90A16_chr8_7725739_7738749	7732124	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp1 HG00558.hp2 HG00673.hp1 others(52): Show HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18971.hp1 NA18971.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0033 a0035 a0036 a0037	a0001c0003 a0001c0006 a0001c0029 others(30): Show a0001c0003 a0001c0006 a0001c0029 a0002c0001 a0003c0002 a0003c0034 a0004c0004 a0004c0025 a0006c0005 a0007c0007 a0011c0009 a0012c0033 a0013c0035 a0014c0024 a0015c0036 a0017c0023 a0018c0015 a0019c0042 a0020c0020 a0021c0037 a0022c0043 a0023c0017 a0024c0032 a0025c0018 a0027c0014 a0028c0013 a0029c0031 a0030c0038 a0031c0030 a0033c0026 a0035c0027 a0036c0028 a0037c0016	a0001c0003t0001 a0001c0006t0001 a0001c0029t0001 others(30): Show a0001c0003t0001 a0001c0006t0001 a0001c0029t0001 a0002c0001t0001 a0003c0002t0001 a0003c0034t0001 a0004c0004t0001 a0004c0025t0001 a0006c0005t0001 a0007c0007t0001 a0011c0009t0001 a0012c0033t0001 a0013c0035t0001 a0014c0024t0001 a0015c0036t0001 a0017c0023t0001 a0018c0015t0001 a0019c0042t0001 a0020c0020t0001 a0021c0037t0001 a0022c0043t0001 a0023c0017t0001 a0024c0032t0001 a0025c0018t0001 a0027c0014t0001 a0028c0013t0001 a0029c0031t0001 a0030c0038t0001 a0031c0030t0001 a0033c0026t0001 a0035c0027t0001 a0036c0028t0001 a0037c0016t0001	a0001c0003t0001g0006 a0001c0003t0001g0011 a0001c0003t0001g0026 others(41): Show a0001c0003t0001g0006 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0006t0001g0004 a0001c0029t0001g0006 a0002c0001t0001g0001 a0002c0001t0001g0033 a0003c0002t0001g0001 a0003c0002t0001g0002 a0003c0002t0001g0043 a0003c0034t0001g0001 a0004c0004t0001g0003 a0004c0004t0001g0020 a0004c0004t0001g0022 a0004c0025t0001g0024 a0006c0005t0001g0001 a0006c0005t0001g0005 a0007c0007t0001g0002 a0007c0007t0001g0034 a0007c0007t0001g0035 a0011c0009t0001g0001 a0012c0033t0001g0001 a0013c0035t0001g0005 a0014c0024t0001g0012 a0015c0036t0001g0007 a0017c0023t0001g0030 a0018c0015t0001g0001 a0019c0042t0001g0044 a0020c0020t0001g0040 a0021c0037t0001g0010 a0022c0043t0001g0031 a0023c0017t0001g0032 a0024c0032t0001g0003 a0025c0018t0001g0001 a0027c0014t0001g0001 a0028c0013t0001g0001 a0029c0031t0001g0028 a0030c0038t0001g0009 a0031c0030t0001g0007 a0033c0026t0001g0025 a0035c0027t0001g0021 a0036c0028t0001g0042 a0037c0016t0001g0005	55	70	0.7857	0	c.432 others(5): Show c.432+2T>C		FAM90A16	ENSG00000285620.1	transcript	ENST00000648174.1	protein_coding	3/3						chr8	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0017 a0019 a0020 a0021 a0022 a0024 a0025 a0026	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0004 a0005c0005 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0014 a0011c0015 a0012c0012 a0017c0027 a0019c0029 a0020c0034 a0021c0026 a0022c0030 a0024c0024 a0025c0033 a0026c0019	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0014t0001 a0011c0015t0001 a0012c0012t0002 a0017c0027t0001 a0019c0029t0001 a0020c0034t0002 a0021c0026t0008 a0022c0030t0001 a0024c0024t0001 a0025c0033t0001 a0026c0019t0001	a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0002g0139 a0002c0003t0002g0150 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0162 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0006t0002g0207 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0007t0003g0143 a0002c0007t0003g0144 a0002c0007t0003g0145 a0002c0007t0003g0146 a0002c0007t0003g0163 a0002c0007t0003g0164 a0002c0008t0004g0140 a0002c0008t0004g0147 a0002c0008t0004g0148 a0002c0008t0004g0149 a0002c0008t0004g0168 a0002c0008t0007g0161 a0002c0031t0006g0159 a0002c0032t0001g0204 a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0201 a0004c0004t0001g0013 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0030 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0005c0005t0001g0151 a0005c0005t0001g0152 a0005c0005t0001g0156 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0001g0160 a0005c0005t0001g0205 a0005c0005t0001g0206 a0006c0010t0001g0134 a0006c0010t0001g0135 a0006c0010t0001g0198 a0006c0010t0001g0199 a0006c0010t0001g0200 a0007c0009t0001g0016 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0001g0019 a0007c0009t0001g0020 a0008c0011t0002g0001 a0008c0011t0002g0048 a0008c0011t0002g0049 a0008c0025t0002g0133 a0009c0016t0005g0202 a0009c0016t0005g0203 a0010c0014t0001g0137 a0010c0014t0001g0138 a0011c0015t0001g0191 a0011c0015t0001g0192 a0012c0012t0002g0001 a0017c0027t0001g0120 a0019c0029t0001g0221 a0020c0034t0002g0136 a0021c0026t0008g0142 a0022c0030t0001g0014 a0024c0024t0001g0141 a0025c0033t0001g0187 a0026c0019t0001g0023	114	236	0.4831	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBRSL1_chr12_132485151_132590188	132583374	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show HG00423.hp1 HG00438.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02486.hp2 HG02602.hp1 HG02895.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18950.hp2 NA18969.hp1 NA18986.hp1 NA19004.hp1 NA19010.hp1 NA19067.hp1 NA19067.hp2 NA19240.hp2	a0005 a0007 a0013 others(9): Show a0005 a0007 a0013 a0014 a0016 a0017 a0024 a0027 a0031 a0040 a0046 a0047	a0005c0052 a0005c0054 a0007c0022 others(17): Show a0005c0052 a0005c0054 a0007c0022 a0007c0035 a0007c0063 a0007c0071 a0007c0080 a0013c0034 a0013c0064 a0013c0065 a0013c0066 a0014c0016 a0016c0014 a0017c0019 a0024c0029 a0027c0059 a0031c0089 a0040c0084 a0046c0076 a0047c0040	a0005c0052t0005 a0005c0054t0001 a0007c0022t0002 others(23): Show a0005c0052t0005 a0005c0054t0001 a0007c0022t0002 a0007c0035t0001 a0007c0035t0034 a0007c0063t0038 a0007c0071t0011 a0007c0080t0031 a0013c0034t0004 a0013c0034t0005 a0013c0064t0006 a0013c0065t0013 a0013c0066t0003 a0014c0016t0001 a0016c0014t0001 a0016c0014t0002 a0016c0014t0014 a0017c0019t0005 a0017c0019t0008 a0024c0029t0001 a0024c0029t0002 a0027c0059t0001 a0031c0089t0002 a0040c0084t0024 a0046c0076t0009 a0047c0040t0002	a0005c0052t0005g0090 a0005c0054t0001g0069 a0007c0022t0002g0115 others(30): Show a0005c0052t0005g0090 a0005c0054t0001g0069 a0007c0022t0002g0115 a0007c0022t0002g0121 a0007c0022t0002g0131 a0007c0035t0001g0271 a0007c0035t0034g0309 a0007c0063t0038g0083 a0007c0071t0011g0070 a0007c0080t0031g0074 a0013c0034t0004g0113 a0013c0034t0005g0097 a0013c0064t0006g0106 a0013c0065t0013g0001 a0013c0066t0003g0035 a0014c0016t0001g0088 a0014c0016t0001g0256 a0014c0016t0001g0257 a0014c0016t0001g0300 a0016c0014t0001g0188 a0016c0014t0002g0145 a0016c0014t0002g0205 a0016c0014t0014g0162 a0017c0019t0005g0095 a0017c0019t0005g0124 a0017c0019t0008g0310 a0024c0029t0001g0163 a0024c0029t0002g0192 a0027c0059t0001g0308 a0031c0089t0002g0159 a0040c0084t0024g0317 a0046c0076t0009g0283 a0047c0040t0002g0210	33	346	0.0954	1	c.261 others(5): Show c.2610dupC	p.Ala others(5): Show p.Ala871fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	3031/4839	2611/3009	871/1002		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132583509	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp1 HG03195.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18975.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19067.hp1 NA19090.hp1	a0004 a0005 a0011 others(10): Show a0004 a0005 a0011 a0012 a0013 a0014 a0018 a0024 a0025 a0032 a0034 a0042 a0044	a0004c0015 a0004c0020 a0004c0030 others(20): Show a0004c0015 a0004c0020 a0004c0030 a0004c0062 a0004c0067 a0004c0069 a0005c0052 a0011c0009 a0012c0023 a0012c0036 a0013c0034 a0013c0064 a0013c0065 a0013c0066 a0014c0016 a0018c0033 a0018c0060 a0024c0029 a0025c0039 a0032c0041 a0034c0043 a0042c0085 a0044c0077	a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 others(28): Show a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 a0004c0015t0023 a0004c0020t0007 a0004c0030t0012 a0004c0062t0041 a0004c0067t0003 a0004c0069t0003 a0005c0052t0005 a0011c0009t0001 a0011c0009t0002 a0012c0023t0001 a0012c0036t0001 a0012c0036t0002 a0013c0034t0004 a0013c0034t0005 a0013c0064t0006 a0013c0065t0013 a0013c0066t0003 a0014c0016t0001 a0018c0033t0001 a0018c0060t0001 a0024c0029t0001 a0024c0029t0002 a0025c0039t0004 a0025c0039t0017 a0032c0041t0002 a0034c0043t0008 a0042c0085t0004 a0044c0077t0001	a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 others(41): Show a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 a0004c0015t0023g0026 a0004c0020t0007g0123 a0004c0020t0007g0280 a0004c0020t0007g0294 a0004c0030t0012g0142 a0004c0030t0012g0144 a0004c0062t0041g0139 a0004c0067t0003g0036 a0004c0069t0003g0031 a0005c0052t0005g0090 a0011c0009t0001g0226 a0011c0009t0002g0158 a0011c0009t0002g0176 a0011c0009t0002g0221 a0011c0009t0002g0224 a0011c0009t0002g0228 a0012c0023t0001g0241 a0012c0023t0001g0285 a0012c0023t0001g0293 a0012c0036t0001g0307 a0012c0036t0002g0135 a0013c0034t0004g0113 a0013c0034t0005g0097 a0013c0064t0006g0106 a0013c0065t0013g0001 a0013c0066t0003g0035 a0014c0016t0001g0088 a0014c0016t0001g0256 a0014c0016t0001g0257 a0014c0016t0001g0300 a0018c0033t0001g0244 a0018c0033t0001g0277 a0018c0060t0001g0006 a0024c0029t0001g0163 a0024c0029t0002g0192 a0025c0039t0004g0321 a0025c0039t0017g0328 a0032c0041t0002g0214 a0034c0043t0008g0174 a0042c0085t0004g0318 a0044c0077t0001g0058	44	346	0.1272	1	c.274 others(5): Show c.2745dupC	p.Ala others(5): Show p.Ala916fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	3166/4839	2746/3009	916/1002		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW8_chr12_116905950_117036148	116911140	CGGGCTCG others(12): Show CGGGCTCGGCGGCCGGAGGT	C C	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0018 a0007c0012t0018	a0007c0012t0018g0012 a0007c0012t0018g0012	1	288	0.0035	-19	c.110 others(26): Show c.110_128delGGCGGCCGGAGGTGGGCTC	p.Arg others(4): Show p.Arg37fs	FBXW8	ENSG00000174989.13	transcript	ENST00000652555.1	protein_coding	1/11	198/4861	110/1797	37/598		INFO_REALIGN_3_PRIME	chr12	TogoVar
FMN2_chr1_240086883_240480187	240207539	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp2 HG00738.hp1 others(13): Show HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02083.hp2 HG02486.hp1 HG02602.hp2 HG02809.hp1 HG02896.hp2 NA19030.hp1 NA19030.hp2	a0014 a0023 a0031 others(10): Show a0014 a0023 a0031 a0032 a0033 a0038 a0039 a0040 a0045 a0047 a0051 a0064 a0065	a0014c0091 a0014c0092 a0014c0093 others(13): Show a0014c0091 a0014c0092 a0014c0093 a0023c0106 a0023c0133 a0031c0026 a0032c0066 a0033c0065 a0038c0062 a0039c0080 a0040c0040 a0045c0107 a0047c0079 a0051c0113 a0064c0134 a0065c0112	a0014c0091t0003 a0014c0092t0001 a0014c0093t0006 others(13): Show a0014c0091t0003 a0014c0092t0001 a0014c0093t0006 a0023c0106t0001 a0023c0133t0005 a0031c0026t0001 a0032c0066t0002 a0033c0065t0002 a0038c0062t0009 a0039c0080t0011 a0040c0040t0001 a0045c0107t0001 a0047c0079t0004 a0051c0113t0003 a0064c0134t0005 a0065c0112t0003	a0014c0091t0003g0120 a0014c0092t0001g0107 a0014c0093t0006g0138 others(13): Show a0014c0091t0003g0120 a0014c0092t0001g0107 a0014c0093t0006g0138 a0023c0106t0001g0172 a0023c0133t0005g0153 a0031c0026t0001g0022 a0032c0066t0002g0092 a0033c0065t0002g0017 a0038c0062t0009g0058 a0039c0080t0011g0057 a0040c0040t0001g0032 a0045c0107t0001g0134 a0047c0079t0004g0100 a0051c0113t0003g0139 a0064c0134t0005g0151 a0065c0112t0003g0112	16	164	0.0976	1	c.273 others(5): Show c.2732dupC	p.Pro others(5): Show p.Pro912fs	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	2960/6429	2733/5169	911/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMNL2_chr2_152330174_152654826	152619552	G G	GCCAC GCCAC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18977.hp2 NA18995.hp1 NA18995.hp2 NA19060.hp2 NA19062.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0002c0004 a0002c0007 others(13): Show a0002c0002 a0002c0004 a0002c0007 a0002c0009 a0002c0012 a0002c0019 a0002c0022 a0002c0033 a0002c0036 a0003c0008 a0003c0021 a0003c0023 a0003c0026 a0003c0031 a0003c0035 a0007c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(32): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0007t0006 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0012t0001 a0002c0012t0007 a0002c0019t0004 a0002c0022t0002 a0002c0033t0002 a0002c0036t0001 a0003c0008t0001 a0003c0008t0002 a0003c0021t0002 a0003c0021t0003 a0003c0023t0002 a0003c0026t0010 a0003c0031t0009 a0003c0035t0002 a0007c0016t0002	a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0033 others(72): Show a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0159 a0002c0002t0001g0169 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0002g0037 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0066 a0002c0002t0002g0161 a0002c0002t0002g0167 a0002c0002t0003g0074 a0002c0002t0003g0172 a0002c0002t0005g0071 a0002c0002t0006g0113 a0002c0002t0008g0036 a0002c0002t0010g0085 a0002c0002t0011g0151 a0002c0002t0017g0001 a0002c0004t0001g0040 a0002c0004t0001g0048 a0002c0004t0001g0081 a0002c0004t0001g0083 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0124 a0002c0004t0001g0142 a0002c0004t0001g0177 a0002c0004t0002g0125 a0002c0004t0002g0173 a0002c0004t0003g0054 a0002c0004t0003g0059 a0002c0004t0003g0065 a0002c0004t0005g0046 a0002c0007t0001g0041 a0002c0007t0001g0072 a0002c0007t0001g0133 a0002c0007t0001g0166 a0002c0007t0002g0127 a0002c0007t0003g0107 a0002c0007t0006g0134 a0002c0009t0001g0121 a0002c0009t0001g0153 a0002c0009t0002g0018 a0002c0009t0003g0043 a0002c0012t0001g0157 a0002c0012t0001g0163 a0002c0012t0007g0109 a0002c0019t0004g0094 a0002c0019t0004g0140 a0002c0022t0002g0117 a0002c0022t0002g0187 a0002c0033t0002g0154 a0002c0036t0001g0199 a0003c0008t0001g0192 a0003c0008t0002g0078 a0003c0008t0002g0100 a0003c0008t0002g0156 a0003c0021t0002g0193 a0003c0021t0003g0005 a0003c0023t0002g0084 a0003c0026t0010g0086 a0003c0031t0009g0135 a0003c0035t0002g0106 a0007c0016t0002g0030 a0007c0016t0002g0034	75	76	0.9868	4	c.167 others(13): Show c.1673_1674insACCC	p.Pro others(5): Show p.Pro561fs	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/26	2104/5630	1674/3279	558/1092		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0003c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0003c0014t0001g0001	335	382	0.8770	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245		INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L3_chr9_68297867_68310084	68303731	C C	A A	stop_gained stop_gained	HIGH	HG00621.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG02055.hp2 HG02630.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp1 NA19001.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0007 a0006c0016 a0004c0005 a0004c0007 a0006c0016	a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 others(1): Show a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 a0006c0016t0001	a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 others(1): Show a0004c0005t0001g0000 a0004c0005t0005g0000 a0004c0007t0001g0000 a0006c0016t0001g0000	10	174	0.0575	0	c.780 others(3): Show c.780C>A	p.Tyr others(4): Show p.Tyr260*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	865/2218	780/1254	260/417			chr9	TogoVar
FSIP2_chr2_185733804_185838290	185801624	C C	G G	stop_gained stop_gained	HIGH	HG02055.hp2 HG02055.hp2	a0038 a0038	a0038c0070 a0038c0070	a0038c0070t0001 a0038c0070t0001	a0038c0070t0001g0271 a0038c0070t0001g0271	1	368	0.0027	0	c.123 others(5): Show c.12318C>G	p.Tyr others(5): Show p.Tyr4106*	FSIP2	ENSG00000188738.16	transcript	ENST00000424728.6	protein_coding	17/23	12409/20879	12318/20724	4106/6907			chr2	TogoVar
GARIN2_chr14_67184440_67228940	67204765	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG01081.hp2 HG01106.hp2 HG01167.hp1 others(2): Show HG01081.hp2 HG01106.hp2 HG01167.hp1 HG02055.hp1 HG02683.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0182 a0003c0006t0001g0234 a0003c0006t0001g0236 others(2): Show a0003c0006t0001g0182 a0003c0006t0001g0234 a0003c0006t0001g0236 a0003c0006t0001g0237 a0003c0006t0001g0241	5	330	0.0152	1	c.588 others(8): Show c.588_589insT	p.Thr others(5): Show p.Thr197fs	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	5/8	832/1620	589/1254	197/417			chr14	TogoVar
GGACT_chr13_100525180_100593789	100588740	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 others(9): Show a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050	12	374	0.0321	0	c.-18 others(6): Show c.-184+1G>A		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	1/2						chr13	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
GJB7_chr6_87277980_87334278	87323031	TGCTTTTT others(80): Show TGCTTTTTCAGCCCTGCAACACAATGTGTAGAACTTAACGGAATGAAGTT TTCTTTTGGAGGCTTCCAATGCGTCTGTCTTTGAGTAA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02572.hp1 others(13): Show HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0009c0010	a0001c0001t0006 a0001c0001t0012 a0003c0003t0008 others(2): Show a0001c0001t0006 a0001c0001t0012 a0003c0003t0008 a0005c0005t0007 a0009c0010t0008	a0001c0001t0006g0004 a0001c0001t0006g0054 a0001c0001t0006g0056 others(5): Show a0001c0001t0006g0004 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0012g0055 a0003c0003t0008g0029 a0005c0005t0007g0028 a0005c0005t0007g0053 a0009c0010t0008g0052	16	380	0.0421	-87	c.-20 others(99): Show c.-205-75_-194delTTACTCAAAGACAGACGCATTGGAAGCCTCCAA AAGAAAACTTCATTCCGTTAAGTTCTACACATTGTGTTGCAGGGCTGAAA AAGC		GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding	2/3				38120		chr6	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0015 others(8): Show a0001 a0006 a0015 a0018 a0020 a0021 a0027 a0029 a0030 a0031 a0032	a0001c0001 a0001c0014 a0001c0023 others(15): Show a0001c0001 a0001c0014 a0001c0023 a0001c0027 a0001c0037 a0001c0047 a0001c0048 a0001c0049 a0006c0007 a0015c0035 a0018c0057 a0020c0061 a0021c0036 a0027c0029 a0029c0034 a0030c0064 a0031c0062 a0032c0058	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0014t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0006c0007t0001 a0015c0035t0001 a0018c0057t0001 a0020c0061t0001 a0021c0036t0004 a0027c0029t0004 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0014t0001g0012 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0015c0035t0001g0086 a0018c0057t0001g0095 a0020c0061t0001g0101 a0021c0036t0004g0045 a0027c0029t0004g0106 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078	215	306	0.7026	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(19): Show a0001 a0003 a0006 a0009 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0035	a0001c0001 a0001c0005 a0001c0010 others(44): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0006c0007 a0009c0018 a0009c0025 a0011c0022 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0006c0007t0001 a0009c0018t0010 a0009c0025t0010 a0011c0022t0015 a0011c0022t0016 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0009c0018t0010g0041 a0009c0025t0010g0119 a0011c0022t0015g0042 a0011c0022t0016g0043 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0035c0054t0001g0093	286	393	0.7277	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0005 a0001c0010 others(59): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0002c0002 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0004c0003 a0005c0006 a0005c0008 a0005c0031 a0006c0007 a0007c0009 a0009c0018 a0009c0025 a0009c0026 a0010c0016 a0011c0022 a0012c0019 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0017c0063 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0023c0033 a0024c0028 a0025c0030 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0033c0060 a0034c0032 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(82): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0017 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0004c0003t0002 a0004c0003t0005 a0004c0003t0006 a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0007 a0005c0008t0008 a0005c0008t0022 a0005c0031t0007 a0006c0007t0001 a0007c0009t0002 a0007c0009t0011 a0009c0018t0010 a0009c0025t0010 a0009c0026t0010 a0010c0016t0002 a0011c0022t0015 a0011c0022t0016 a0012c0019t0014 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0017c0063t0006 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0023c0033t0002 a0024c0028t0002 a0025c0030t0002 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0033c0060t0005 a0034c0032t0009 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0037 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0005g0025 a0002c0002t0006g0038 a0002c0002t0011g0036 a0002c0002t0017g0105 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0004c0003t0002g0008 a0004c0003t0002g0015 a0004c0003t0002g0029 a0004c0003t0002g0030 a0004c0003t0005g0110 a0004c0003t0006g0010 a0004c0003t0006g0047 a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0007g0114 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0008t0022g0115 a0005c0031t0007g0113 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0007c0009t0002g0016 a0007c0009t0011g0120 a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118 a0010c0016t0002g0026 a0011c0022t0015g0042 a0011c0022t0016g0043 a0012c0019t0014g0052 a0012c0019t0014g0053 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0017c0063t0006g0048 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0023c0033t0002g0049 a0024c0028t0002g0109 a0025c0030t0002g0111 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0033c0060t0005g0099 a0034c0032t0009g0079 a0035c0054t0001g0093	390	394	0.9898	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909			chr15	TogoVar
GOLGA8G_chr15_28514611_28537971	28521486	AGCTTTCC others(4921): Show AGCTTTCCTTCACTCTAATTCATTCTTGACTAGAGCCTGTATGCCTGTTC CAGGGACATTTGAACTCTTAAAGGATTTCTTATGATCTTTACTAAATACA TTAAGAAGAATGCCAACCAGTGCCCTTTTGTGTACTGGGACATGCAGTCA TGTGATTAAAACAGGTAACATGAACTCTGACTTTAAAATATAGATACAAA TGCTCTAAGCTAGGAAAGGTTTTCCACAACCGTAGTCAATGATGGGAACC TTTCATTCCTCAGAAATAAGCCCTTTTTAGGTCATCAAAAAAGAGTACAA CTGCTGAAGCTCATGATGCAATATCTTCATGAGCCCAGAGCACATACAAA TCCTAAAGGAACTACAATAGTACAGCACTAATTCTTGGCAACAGAACAAA TGAAACACACTCTATCTTGCACATACCTGCCAGAGCAGGCAACTTTCCTC TTCTGTGAAATTTAAAAAGCTCCCCCAAAATGTTATTACTCCCATCACCA ATACACAGAAAATGAGGAAAAGGCTGTTTCCAGTTCTCGGCCTTTAAACA ACTCTAAATGTCAGTACTCTTGGTGGCATATTACAAAGTATTAAATAGTG CACACTTGGGGCAAACCACATATTGTGCTAATGAAGAGCTCACTGTGATT AAGATTAGATCAAACAACAGCAGAACATAGGCACATTTTATCTGAATTCT GTAATGAATATACATGCTGCAATAACATTAAAAACACATGGCAGCCTATT CCAAACCAGCAAGAATAGTTTTGTGCAAATAGTGGGTCTTTGTGTGTTTG AACTCCCACCACGTAAGGGCAAACTCAATATGCATGCTAATGACCTACAA TTATGAAATTGAAAAAGAAAATTGCGAAAGTATGCCAGAGTGAACATCAG TGAAAGCCACAGAGACCCACTCTCTTTTAACTATTTACAAATGAACTTAA ACTATAAATTAGAAACACAAATAATCATAAGTGGCTATAACATTCAAATG AAGTAAATGAATTGTGTAGGAGATTAACCCCATAACTTTGTTTCTTTTTT AAAAATTTCTTCAGCAGCTCTTTGACGATGGTGATGTTTATCTCCTTCTT CTTGGCAGCCAAGCCCAGCAAAAGAATGGCACACAGCAGTTGCTGCCCAA GCCTGGGTGCTCCTGGTGGTCCTGCACGATCGGCTGTGCAGTAGGGTTGT CGTGGGGAGAACCCTCCCTGGCCTCTCCTTGCACAGGCTCCACGCTGTCA GTGAGGCTCACCTCACAAAGATCTTTGGAGAGAGGGAGGCGGGGATCTGA GCTCAGTGAGAGCCCCCCTGCTCCTGCCTGCCCACCCCGCCTGAGGGCTC TACTCACCACCATGCTTGTGGGCAGCCCCAAGCTCCTGGGGGGCTGGGGC TCCTGGACTGGGCTCATGAGCAGGGTTCTGGGCAGTCACCAAGAATTTGC TGTGTCCCTTGTAGTCGCCACCAGCTGCAACACCATCTCCTGCAGCTCCA GCAGCTTCACCTGGAGGGAGGGGTGCTCAGCTGTCACGCTGCTGCCAGCG CTCACCGTCACAGCCACCCCCACCCCCGCAGAGATGTTGCACACTCTACC TTCATCTCCTCCCTGTCCAGGGCCAGCCTGATGGTGTCCTCCTCCCGGTG CTGCATCTTTGGCACTGCCCCCTGGCTTTGTTATAGGGTGATAAACTTTC CTGCGGGAGGACAGGGCTCAGACGCTGGGGCCCCTCCAACAGCCCTGCAG CTCCCCCTGCCATGCCCTGGCCTCCCACTCACTGATGGCATCTCTCTCTG TAGTACTGGAAGAATCCAAGTTCTTCTTTCTCCACCAGCTCACTCAGGTC TGCCTTCTCCTCCAGGTGGTCCATAAAGCCGCTCTGGAGCCAAAATAATG GGGTCACATCTCGCCAGCGACCTGCCCTCAGGTGGCATTTTCAAGTCATG GAGAAGGCGGAGGTGAGTTCCGGCATGGGCCAGCTTCTCCGTGACTTCCT GCAGGGCCCGGTGGGTCTCCCCACTCACAGACTCGCCCCCAGGCCCTGGG GCTCCAGGGCCTCTGGCTGCCTCTGGCTCCTTCTGGGCCGAGGCCACCGG GTGAGCCAGGCGCTGGCAGCACACCCTCTGCTCTTTCACCTGCTCTTGTA ACTGTGCCTGCTTCTCCTGGGCACTAGCTCCAGCGGACTTGAAAAATGCC ACCTGAGGGCAAGATGTGAGCATTCTTGCAGGGGCATACACAGAACAAAT GGGGCAGAGAGGTGGAGCGCAGCCCCTTCCCTTGGGGCCCCAGAGACTGC ACATGTTGGTCACAGGTGAAATGGTGTCTGACCACTGGCTCCCAGAAGGG GTGAGGGTCCAGAGAAATCAGAAGGCAGGGAAACGAAGAGCATAAAGGGG TCTTGGAGGGACCACAGAGGAAGGAGGCAAAATGGGTTCAGGTGGAGTCA GGCTTACCATGGCCTCCCTGCTCTCCAGGTCCTGTGGGATGCTAGGAATG GGCCGAGGTGCCTCCTCCCCCTCACTGTCCAGATGTCCTCCTCCATCTCC TGGGGGTGGGGGTGGTGGCCAGAGGGGTCCTCAGACAACTCAACAAGGGA AGTATTGTGGGCCCACCTCTGCCTCCACCCTCATTGTGTAACCCTGAGCC AGGCCCTCCCCAGAGAGGAATGAGCTGCTGTTATTTATTTTTACTTTGAA GAACCAAGATCTTGCTATACTGCCCAGGCACATTCCCACTACTGGTCGGT GCGGGAGTTCTGACCTGCTCCCTTTCTGACCTCGGCCAGTTCAGCCATCC TTAGGCAACTTGGTGGCCCCCCGCTCACAGGAGGTCACCATATTGATGCT GAACTTAGTGCAGGCACCCGGTTAGTATAATGACCAGCTGTTCTAAAGGT CTCTTCCAACTCCTCAATCCTATGCTGCTAGCAGTCCCCCCTTCCTCCTG GGGCTCTCTCCTCTTCCTCTGAGCGGTCTCCCGTACCTTCCCCAGGGAGA GCCATGAGGCTCAACTGGGCCGTTAGCTGCTGTTTCTGCTGGCTCGCAGC TTCCAGACGCTCCTAAGGGGCCAGGAAAGAGTGAGAAGGCACAGAGTTTG CCAGGTCGTCCCCCTCACAGCCCCATCCTCGGCAGCTCCCTCCCCTGGGT CTCCTGCAACTTTTGGCAGGCCATCTCGGCCACCGCTTTGCCCCAAGCTT CCTGCTGCTGCAACTGGTTCATTAGCTGGGTCTGCTGCAGTCACTGCCTG TACAGCGCCTCCTTCTCACAGGTCAGCTGCTGATAGGCGGCCACCTGCTG CTGATAGGTGGCCACGTACTGCTGCAGGTGACCCAGGTAATGGTCTGGCT GCTGCTGCAGACTCTGAGCCTCTTGGCTCTTCAGCTCCACCTGCAGGAAG ACCCTGGGTGTGAGGGCACGTGGTGGCTGGTTTGCAGATTCTGGGCCCAT TAATAGGGTAGCGAGGGCACTGTGGGGCTCTGTCGCCTGCCCAGGCCCCT GGCCCCTTACTTCAGGCCTAAGTGACTGCCTTGCTTTCCTAGAACCCCAT GCCTCCTTCCCCAGCCTCAAATCTCATGTCCTCTTCCCACCATTTCAACT GTAGGCCACAGAATGGTAGAAAAGTATGGGAGCCAACCACCATCTGCTAA ATGTGCTACAGGCCTAATGCTTCCCATGTATTATCTCATTTAATCCTCAG CACCTCTGTAAGGAAAATGCTAACTTCCTTTTGAAGTTAAAGAAACAGAG ACTTAGAGATGCGAAGTACTTGAATGGTGACCAGTGGAACTGAGGCTGGA ATCCAGTTTTAATCTAAGGAGTCTTTTTGTTTTGTTTTGAGACAGAGTGT CACTCTGTGGCCCAGGCAGGAGTGCAGTGGTGCAATCTCAGCTCACTGCA ACCTCCACCTCCTGGGCTCAAGCAATTCTCGTGCCTCAGCCTCCTGAGTA GGTGGGATTACAGGCATGCGCCACCACCATGCCCCACTAATTTTTCTTTC TTTTTTTGTTTTTTGTTTTTGTAATTTTAGTAGAGATGAGGTTTTACCAT GTTGGCCAGGCTGATCTCAAACTCCAAACCTCAAGTGATTCTCCTGCCTC AGCCTCCCAAAGTGTTGGCACTATAGGCGTAAGCCACCGCATCTGGCATA AGAAGACTGTTATACCACTCTGTCTCTTCCCCTGTGATTGGGGGGGCTCC ATGTCTCTAGCTGGAATGATGATGTCCAGACCTGGGAGGAGCCCAGGGCT ACCCACCTCTAAAATCAGAGGGCAGGAAGCAAGAAACAGCCACAGGACTG CCCTGGAGGGTGCTGGGGTCACCTGCCCCCGGGCTGGAGCTACCGCTGGC CTGGCACCTCCCCTCCCCAGAGGCTGGTGCCCACCCACCTCCCAGACCTT CTTGGATGGGGTGGAGGTTACCGTCTCCTTCACCTTGCCTAGCTTCTCCT GCAGCTCCTTTACTTGCTGCTCCAACTGTAGTACGCTCTTGTTCTCATTG TTCTGGACAGAGAGAAGCAATCAGCAGCCACCCACTGCAGCTGGAGACCC CAGAACTTGGTGACTGCCTCCCATGGCACCGGGAAGGGTGGAGGCAGGTT AGAAAAATCATCCCCTGTCTCCCACAGCCACCAGAGCAGGGCTCTGGCTC ACAGGTGCCTTTAGGAGTAACATTTCACTTGAGGGCTACACTGCCCCATT TTATAGGTGGGGAAACAAAGGCCTGGAGGGCTAGGGAGGAGGGCAAGCTC CCCAGCTGGGGCAACGCACCAGCTCCTTGAAGCTGTTCTGTGGCTCGGCC AGCTGCTGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTCCTG AAGCCTCTCCTCCTGCTCCCGAAGCCTCTCCTTTTGCCCCTCATTCAGGA GACTTATGCGCTGATTGTACTCCACCTGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG02809.hp2 HG03139.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0004 a0003c0003t0008 a0003c0014t0004 a0003c0003t0004 a0003c0003t0008 a0003c0014t0004	a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020 a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020	5	100	0.0500	-4928	c.101 others(10): Show c.1011_*1086del		GOLGA8G	ENSG00000183629.14	transcript	ENST00000525590.3	protein_coding	18/19	3095/4971					chr15	TogoVar
GPRC6A_chr6_116787085_116834083	116792598	A A	AGGT AGGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show HG00099.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA19030.hp1 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0014	a0003c0003 a0005c0005 a0005c0015 others(3): Show a0003c0003 a0005c0005 a0005c0015 a0005c0028 a0010c0023 a0014c0025	a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 others(3): Show a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0010c0023t0001 a0014c0025t0001	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0166 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0255 a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262 a0010c0023t0001g0083 a0014c0025t0001g0252	60	366	0.1639	3	c.232 others(12): Show c.2324_2325insACC	p.Tyr others(15): Show p.Tyr775delinsTerPro	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	6/6	2394/2908	2324/2781	775/926			chr6	TogoVar
GSDMB_chr17_39899595_39923635	39908216	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0137 a0002c0002t0001g0151 a0002c0002t0004g0152 a0002c0002t0005g0153	125	398	0.3141	0	c.662 others(5): Show c.662-2A>G		GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding	5/10						chr17	TogoVar
GSTM1_chr1_109682817_109698745	109683926	ATTCCACA others(14812): Show ATTCCACAAGTGAGTTCCCCCTTCCTTTGTTCTCCTCTGCCTCTGCCTCT TTTAAAAAGTTCTAAGTTGCTAGCCAATCAGGACAAATACAGAATGTGAG GTCCCGTTCCAGCCAGTGGAAACTGGACACAGCAGTAGGGTGGACACATC AAGTTATAAATGACCCTTTCTCCTTTGTTCAGTGTACTCTCGTGGTAAAA CTGCTGGCGAGTGTACCCTTTCTGCAGAAAGTAAAAATGGCCTTTGTTGC AGGAAGTCAGGGACCCCGAACGGAGGGACCGGCTGGAGCTGCAGCAGAGG AACATAAATTGCAAATATTTCATTTTAATATGGACATTTATCAGTTCCCA AATTAATACTTTTATAATTTCTTATGCCTGCCTTACTTTAATCTCTTAAT CCTGTTATCTTCTTAAGCTGAGGATATAGGTCACCTCAGGACCACTGTGA TAATTGTGTTAACTGTACAAATTGATTGTAAAACATGTGTGTTTGAACAA TATGAAATCAGTGCACCTTGAAAAAGAACAGAATAACAGCGATTTTTAGG GAACAAGAGAAGACAACCATAAGGTCTGACTGTCCGCAGGGTCGGGCAAA ATAGAGCCATGTTTTTCTTCTTGCAGAGAGCCTATAAATGGACATGCAAG TAGGGAAGATATTGCTAAATTCTTTTCCTAGCAGGGAATATTAATATTAA TACTCTGGGAAAGGAATGCATTCCTGGGGGGAGGTCTATAAACAGCCGCT TTGGGAATGAATGACTGTCCTATGCAGTTGAGATAAGGACTGAAATACAC CCCGGTCTCCTGCAGTACCCTCAGGTGGGGAAAAAACCTGGCCCTGGCAA ATTTGTGGTCAGACTGGTTCTCTGCTCTTGAACCCTGTGTTCTGTTGTTT AAGATGTTTATCAAGACAATATGTGCACCACTGAACATAGACCCTTATCA GGAGTTCTACTTTTGCCTTTGTCCTGTTTCCTCAGAAGCATGTGATCTTT GTTCTGCTTTTTGCCCTTTAAAGCATGTGATCTTCGTACCTACCCTCTGT TCGTACACCACCACCCCTTTTGCAATCCTTAATAAAAACTTGCTGGTTTT GAGGCTCGGGCAGGCATCATGGTCCTACCGATATGTGATGTCACCCCTGG CGGCCCAGCTGTAAAATTCTTCTCTTTGTACTCTTTCTCTTTATTTCTCA GCTGGCTGACACTTATGGAAAATAGAAAGAACCTACGTTGAAATATTGGG GGCAGGTTCCCCAATAGCCTTGCTGAGGAAATTAAATTTATGTTCAAGTG CTATTTCTTTATGGCACCAAGGAACAAGTATTTCAAACAATACTAATGTA ACAGTACTGGTTCTATGTGTTTCAAAATTATTATTCTCATGAGTGTTAGC TTTCTTAAAAAATCGTTTTTTTTTTCAATTGGATCTAGACATCTTATCTT TCACAGCTCAAGACGGATTAACTCAGAATCATAAACTCTTAATGCATAAT GAGAAATATAATGTTTCCTAGGGCCAGGCACTTGTGTCTGTGCTGGTGCT ATTGCCTCAATGCAGGAAAATCTATGTAAGAGTTCACTGTGAGGCCAAAA CTGCTTCCTAAACATGGATACCTGCCAGGTATCTGAGCTGGGAGTACTGC CCAGGTCTGGATGGGCGGGGAGTGTTTGCAACAAGGACTGTGCCTTGCCA GCCTCAGTGACACAGTGTCCAAGTGCCCCAACTTAGCAGCCACCTGCTGA CCACCTGATTTCTGTGGCCTAATAGGGATGTGATGAAGTCTACCTGTTTA CTCAACCCCAAACCACACATTATCCAGGTGGTTTGAAACTTTTTTGATAT ACTGGGTTCATCCTCTGGAGTCCTAACAATGTTTTAGCTAATTTACAAAA AACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAACTACTTTTTT TGCAGCACAACAGCCTGGTTTACATTGCAAAATGATTTCTCATTAAAGGT CTATCATCTATTTCCATATGTCCATTATTATTTGCAATATCCTTTAAAGC AGTCAACCCCAGGCTAATCCATTGCACAACTCTTTTGAAAGTCTTCCTTC TACCTTGAAAGAAGAAAGTTGGCAGGTTGGACATTGTTCTCGTGGAGGTT GTACCATGGGTCACATATCACGGTGTGACTTCAAAGGCCACTGGAGCCAC CGTCTCATACTGAAGAACACACATGGGTCAGGAGCCAGGTCCAGGTCCGG AATGGTGGATCTGGAGAGGGGAGGGTCCCTGCCTGTGGTCCTGTGGGGAG CCCTCAGGCTCCTCTCTGGCCACCATCCTCTGACCTCCCTCCTCAGCAGG ACAGGGTTCTGGCTTCTCTGAGGGACAGGTTCTGTGGCAGGCCAGGCGTC ACTAACACAGGCCTCCATAACAACTGTTTCAGTACTGACTGAGTGGTGAA GTTAAATATTAAAAGCTGAAAAAAGCCAGTACCTTTATACAGAGGCTGGA TGTAACAAAAGCCCACCAAGAGTTTTGCTTAGGCCTTTCCTGGGCCTTAA AGCATGACAAAACAATGAAGGAATTCTTAACAGGACCTATTTAGAATTAA ACAAGTTTTATTGTGAGTCTGAAGAAACTCCCCAGGCCTCCACAAACAAG TTTATTGGGCGTCTGAAGGAACTCCCCAAACCTCCGTGATTTAGCAGGAG ACAAGATAAGGGTAATCATCCCCCGCACCTGGACCCATTTAGATTAAATA AATAGACTGAGGCTCCAGAATAAGGTCCTCAGGACCCAGACCTCAGTTAC AGATTAAAGAAGTTAATCACTTATGTCTTTAGATGAATGCACACTTACTT GTAGACATATACCTTAGAAGGTATATATGCTCTGGAAAACTTTGTAATAT TGAGTTGGTCTGGTGGTAATTTCTAGGCCTTCTCCCTGTTACCGGTTGCA GAAATAAAACCTCTCTTCCTCCCCATTTGATCTGCATCTCGTTATTGGGC CTAGAGAAATAGCAGCCGGACCCTCAGTTTGGTCCGGGAAGTTCTTCCAT CCTCCCTCGCCTGCTCTCTGTGGCCACTGCACTCACTGTTGCTGTTGCTG TTCCGGTCTCTGTGAGGTTCACCTAGTGGACTGGCTGGACATTTCTAGGG GGCACCTCAGATACCTCACCAACTTGCTGGATCTGATCCTTGGATTTCGA TTCATAAATTGTGCCAAAATACGAAGTGGCTAATTTACACAGTACTTAGC CAGATGACCGAAGGACTCAGTACCCGAGGGCCCCTAACAGAAAACACAGA CCACATTTCCTTTACTCTGGCCCTTTTCCTGGGGGTCCTTCCTATACCAC TGACACTGTTCCTGTGTAGGCGGGGCTAGAGGGGAGACTAAGCCCTGGGA GTAGCTTTCGGATCAGAGGAAGTCCTGCTCTTACAGTGACAGGGGCTGAA TTAAATTCCCAGGTTGGGGCCACCACTTTTTAGTCTGACCCCTGCAGCCG GAGTCTCCCAGAGCCCTTGGGAACTCGGCAGCGGAGAGAAGGCTGAGGGA CACCGCGGGCAGGGAGGAGAAGGGAGAAGAGCTTTGCTCCGTTAGGATCT GGCTGGTGTCTCAAGCGCACAGCCAAGTCGCTGTGGACCTAGCAAGGGCT GGATGGACTCGTGGAGCCTCAGGGCTGGGTAGGGAAGCTGGCGAGGCCGA GCCCCGCCTTGGGCTTCTGGGCGCCCTGACTTCGCTCCCGGAACCCTCGG GCCTGGGAGGCGGGAGGAAGTCTTACTGAGTGCAGCCCCAGGCGCCCTCT CCCGGGCCTCCAGAATGGCGCCTTTCGGGTTGTGGCGGGCCGAGGGGCGG GGTCGCAGCAAGGCCCCGCCTGTCCCCTCTCCGGAGCTCTTATACTCTGA GCCCTGCTCGGTTTAGGCCTGTCTGCGGAATCCGCACCAACCAGCACCAT GCCCATGATACTGGGGTACTGGGACATCCGCGGGGTGAGCGAGGGTCCGC TGGACGGTGGGACGAGGGCGCAGGGGAGGGAAGTGCGAAGCAGCTGCGGG ACGGACTCTAGGGACCGTTCCTCTTCAGGGCTGCCCGCCTCAGAAGGGCC TGTGCATGCCGCTGTGTGTGTGTTGGGGGTGTGGGCGGGTAGAGGAGGCA ACGGGTACGTGCAGTGTAAACTGGGGGCTTCCCTGGTGCAGACAAAGTCA GGGACCCTCCATCTCTGACGCGACCTGCGGGCCATCTCTCCCAGCTGGCC CACGCCATCCGCCTGCTCCTGGAATACACAGACTCAAGCTATGAGGAAAA GAAGTACACGATGGGGGACGGTAATGGCACCCTCGTGTTCGGGCTCTGCC CACTCACGCTAAGTTGGCACCAAGCAACCCATGGTGGCCACCTGTGGCTG CCTCTGCAGGCCTCCCCTGCTGGAGCTGCAGGCTGTCTCTTCCCTGAGCC CCGGTGAGGGAGCCCTCTGGCCTTGCAAGGCAGAATGCTGGGGTGGGATG CTGGGCCCCCTGTCTAATTGGGACGGGTGTCCCTCAGGGCTTGCCTAAAC CCTGGAAGCCTTAGCTGTGTGGGGTCCAGAGCCCTCAGCGGGATTCTTTG TCCCTGAACCCTGGGATGTGGGACTGAGTGGTCAGATTCTAGATCCACCT GTCTCAGGGATCTTGCCACTGGCTCCGTGGGAGGGTCCCCGGGAAGGAGG GCTGGGCTCTGGGGAGGTTTGTTTTCACTTCTTCTTCCCCACCACAGCTC CTGATTATGACAGAAGCCAGTGGCTGAATGAAAAATTCAAGCTGGGCCTG GACTTTCCCAATGTAGGTGCAGGGGAAGGGGCGGTTTTGGGGGAAAGTGC AACGTGTCTCTGACTGCATCTCCTCTCCCCAGCTTAGAGGTGTTAAGATC AGGAGTCTTCTGCCCAATTCCTCTCACTCCTGGCTGTCTAAACAGTCCTT CCATGATGTTCTGTGTCCACCTGCATTCGTTCATGTGACAGTATTCTTAT TTCAGTCCTGCCATGAGCAGGCACAGTGAGTGCCCGGTCTCCTCTCTGCT CTTGCTTATGGGAAGGGGATGCTGGGGAGCCTGGTGGCCCAACTGAGCTT CGCCGGTTTCCCATCCATCCAGCTGCCCTACTTGATTGATGGGGCTCACA AGATCACCCAGAGCAACGCCATCTTGTGCTACATTGCCCGCAAGCACAAC CTGTGTGAGTGTGGGTGGCTGCAATGTGTGGGGGGAAGGTGGCCTCCTCC TTGGCTGGGCTGTGATGCTGAGATTGAGTCTGTGTTTTGTGGGTGGCAGG TGGGGAGACAGAAGAGGAGAAGATTCGTGTGGACATTTTGGAGAACCAGA CCATGGACAACCATATGCAGCTGGGCATGATCTGCTACAATCCAGAATTT GTGAGTGTCCCCAGTGAGCTGCATCTGACAGAGTTTGGATTTGGGGCCAG GACTCTTGCATTCCTGCACACACTGGTCTTAAGTCCCTGGTACCATTCAT CCTCCAAGTGCTTTCCCATACTATCAGCAGTTATTCTCACGACTCCAATG TCATGTCAACAAAAGCAGAGGCAATTCCCACCAACCTTAGGACACGATCC AGGCATCCCAGGGTAGAAATTCAGTTCCTGTATGGTAAAGTTTGTGTTCA GAATCTCCTTCATCAGCTCTGGCCTCTGACTTCTGTCCTGGGTCATTTCT GTCAGCCAGTTCACATCACCTGCCTGCTCCTAGAATATGCAGACTCAAGT AGAAGACTCAGGAATGTAATGGCACCCTCGAATTGCATCTTCTCCTCAAC AGTTTTCTGAGTGCTGTCATTGACATGCACAGGGATCTGCGCATTTTCAT AACAGACAGCTCAGAGGCAGTCAGAGGGCCTTTATTCCTCTCCCTCCTTC CTTTCAACTTGAACTTCTCATCTCCCTGGAAACTAGTCAATGTTCATTGT TTTCTTCTGCCACCCCATTAGAAGGAACTTTCTACTTTCCCTGAGCTCCC TTAGTTCTTTGCATCCTTGATTCTGCTGGTCTGGATCCAGAGGCTGCCAG GTGCTTGGGCGCTCCTGGGGCTGACCCAGAGGCTATTGGGAGGTCAGTGA GGACAGATTCAGGGACAGCATCTCATTCCTCTCTGCCTTCTGATCAGTTT AGATAGGGTCTGGCACTCAGTCAGAGTCTAATAAATGCTGATGTATCCAA TTGAAGCCTGGGCACTGCCCCAGTTCCAGCTTGGGGAAGATGGCTGCTTG CCCATGGCCAGCCTGGGCCGTCCACAGCCCCGGGGAGGCCACGTCTGTGC AGGGAGCTTTTGTCCGAGGGTGGTGACAGCTGTTTTCTGCCTCAGGAGAA ACTGAAGCCAAAGTACTTGGAGGAACTCCCTGAAAAGCTAAAGCTCTACT CAGAGTTTCTGGGGAAGCGGCCATGGTTTGCAGGAAACAAGGTAAAGGAG GAGTGATATGGGGAATGAGATCTGTTTTGCTTCACGTGTTATGGAGGTTC CAGCCCACATATTCTTGGCCTTCTGCAGATCACTTTTGTAGATTTTCTCG TCTATGATGTCCTTGACCTCCACCGTATATTTGAGCCCAAGTGCTTGGAC GCCTTCCCAAATCTGAAGGACTTCATCTCCCGCTTTGAGGTGATGCCCCC ATCCTCCTTTCTCTTTGATGCCCCTTGTTCCGTTACCTCCTTTCAGATGT TTTCCCAGTCCTGGAGCTACACACAGAATAACTCGCATGTATTGAGTACT GGTTTCATGCCACGAACCGTGCCCAGCACATTATACCTATTGTGTGAAAT TTGAATTTTATAACATTCCAGTAAGGTAACAGAATTATCTCGCCCATTTT AGAGATAAGGAAACTAAGAATGAGAGGGTCAGTCCTTTGCTCAGGGTCCC AGAGCTAGTGGAGGCTGTGCTGGGCTCCCTGTGAGCCTCTGGATCTATGG GTGGCAGTCAGGGCTCTCCCATTTGTGACAGAAGAAAAAGCCTTAGGCTT CACCTAGCCTGGGTTTCACAGCCCAGGACACTTTGGAAGAGGCAGAGAAC TTCATGACCATAGATGGAGCTGGCAATAGTAGGACTGACACAACGGTGAC ATTGATGTCTAGTACTGAACCCACAGGCAATATTCATAGCTACCTCCAGA AGCTTTGCATGATTGGACCCCAGTGTGGGGAATCCTGAGAGCCAGGGCTG TGGCTGTAGCTGGATTAAGGTACATATGTGGGTGTCCCTGTTGAAGGAGT ATATGTTGAAATGCCCGGTGCTGGGGCACTTCCTTACTCCACCTCTATTC TTTTTTTTTTTTTTTTTTTTTTTTTGTGCTGGAGTCTTGCTCTGTTGCCC AGGCTGGAGTTCAATGGAGTGATCTTGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCGATTCTACTGCCTCAGCTGCACGATTAGTTGGGATTACAG GTGTGCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCT GCCCACATCAGCCTCCCTCAGTGCTGGGATTACAGATATGAGCCACTCCT CTTCCTCTTTTTTCCCTCCAGTGTTCCACGTGTTCCCCCTGTGAGATGAG TAGCATGCTGATTTTACTCCTATTCACCGACCTTCTCTGCATGAGGCAGG GAGTGAGGCACAGTGGGAGATGTATAGATGACTGCCCCATCCTGGAAATG AGTGCAGTGAGAGGGCTGCAGGCAGAGCAGCCTGTGAGGTGTGTGTGGCA CCACCTGGGTACCAGGCCCGGGGCCTGCCCCTCACTCACGGGGAACCATC CCTCACCCTTGCTGATCTTGTTTCAGAGCACAAATCCTACTTTAGTACAG ATCTGGGAATTTGAGGCATTAGTCCAACGGGCTTCTGAGCCTAGAATCTG TTTCCCTTTCCCATCAAGAAATCTGCTTGCTCAGCTAGTTCCCATCAGCT CTGGTTCTGGTCCAGGCTTAGTGGCCTTGGAGTTATGTAAGAGGTGGTGG GAAGGGAGGGGTGGAGGAGAGCTGAGGTCTATGGCCTATGACATGCCAGG GTCAATCAGTTTGAGAACAGGCAGTCCTGGATCTTTTTTTTTTTTTTTTT TTTGAGATCGTGTCTTGCTGTTGCCCAGGCTGGAGTGCAGTTGCGTGACC TCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAACAATTCTCTGCCTCA GCCTCCCGAGTAGCTGGGATTACAAGTGTCTATCACCACGCCCAGCTAAT TTTTCTATTTTTAGTAGAGATGGGCTTTCACCATGTTGGCCAGGGTGGTC TTGAACTCCTGACCTCGGGTGATCCACCCACCTCGGCTTCCCAATGTGCT GGGATTACAGGTGTGAGCCGGATGTTTTTGAATACCTTATCTGGGCATTC AATCCTGGTAAGATTGTGCACAGCACATCTGAGTATCATGTAGCCTGATC TGCAGCAGGGCTGGAGATGCCATGGGTTAGGGCACAGTGAGATTTTGCTC AGGTATTAGATGGAGAACTTTGGACTTTCTGCTTTAAGGGGAATGTTTAG AGCCTAGTCTCGCCTTTGATTTTCTTGTGCACTGCCACCCCCCATTCCAC TTTCATCCAGGTTTTACTGAGACATTGGGTGAGTGTGTTCAGAGCCCCTT TGTTCTGCTGGAGGTCCCTTCTGTGTCTCTATACCCAGACAAGCCAAGAG CCTCCCTGTGGAAAAGGAGACTGTTTGTGCAGTCAAGGAGTGACAGGGCC TGGTGTGAGGGGTGGTGGGGCAGAAGAAGAAGAGAATTTGTCAGGAAGAG GCCAGAACTGGAGAGAGACAGAACCAGGCTACACTGCAGTTCTATTCCCC TTACTAGGTATTTAAATGTAAGGAAGTTGCTGAACTTCTGTTTCCCACAT GAGAAATGGTGATAATAGATTCAGCCTTGCAGAGCAGTCGAGTGGGTTTT CTAAGCTTACGTTGTAATTTCTCTTGGGTACAGAGCACCCAGCACCGTGT AGAATCTTCATAAGTGTTAGCTGTTACTGTGGTACAACATTACTTAAAGG AAGTTGGAAGAGTTAACTCCGCAAATCTGGGGACCCTAAGAAGCTGTGTG ATGCCTCAGCACTTGAGCCCACATGGAAAGGCTGTGGCCAGGGCCCTGAC CTGCTGTGTCTGCAGTGGGGTTGTCCCAGCCCTCATGGGCAGCTGACCTT GAGTTCTGGCCTTATTTTCCCCCCTCTCAGGGCTTGGAGAAGATCTCTGC CTACATGAAGTCCAGCCGCTTCCTCCCAAGACCTGTGTTCTCAAAGATGG CTGTCTGGGGCAACAAGTAGGGCCTTGAAGGCCAGGAGGTGGGAGTGAGG AGCCCATACTCAGCCTGCTGCCCAGGCTGTGCAGCGCAGCTGGACTCTGC ATCCCAGCACCTGCCTCCTCGTTCCTTTCTCCTGTTTATTCCCATCTTTA CTCCCAAGACTTCATTGTCCCTCTTCACTCCCCCTAAACCCCTGTCCCAT GCAGGCCCTTTGAAGCCTCAGCTACCCACTATCCTTCGTGAACATCCCCT CCCATCATTACCCTTCCCTGCACTAAAGCCAGCCTGACCTTCCTTCCTGT TAGTGGTTGTGTCTGCTTTAAAGGGCCTGCCTGGCCCCTCGCCTGTGGAG CTCAGCCCCGAGCTGTCCCCGTGTTGCATGAAGGAGCAGCATTGACTGGT TTACAGGCCCTGCTCCTGCAGCATGGTCCCTGCCTTAGGCCTACCTGATG GAAGTAAAGCCTCAACCACATTTGCTGTGTGTCTTGTCTTATTTGCTCCT GGCCATCTACCCAGACTGTCTGTCTGTCTGTCACTGCCTCTTCCAAGGGA CTGGCTGGTGATCCTGGCAGTGGCTGGGTTCTAAAGGATTCTGCTGGGCA TAGTAAGGCGCTTGAGAATTCTTGCTCCCATTCCTGAGAGACTCAGAGCA GGAAGCCCCATGAGGCACTGTGGAAAGGATGTCTCTTTCTTGGCCTGGAT GTCCCATTCATTCATCCAGCCGTATTGAGTACTTTCCATAATTGCACAGA GCTTGTGTCTCATTGAATAGGACCCCAAGGGGGTGGAATCTCCATCAGAG AGAACCAGGGTCCCTTTTACCTTCTCCACTATATGACTACATCACTTCTG TTAGGTCTCCAGGACCCAATCTCTATTGTTTTTCTCAGATGGCTTCCAGG TACCCTCTCCAGGCTTGCTGCACAGCTGTCATCAGGACGTTCTCTCTGGG TTTACTTCCTCTCTTTCCTGGGTACCTGTGAGAGAAATGTCTTTAGTCCT TGCATAACTGAAAGTGCCTTTACATGCTTACTGAATACTCTGGCTGAGGA TTTAGTCTGTTCTCACGCTGCTAATAGAGACATACCCGAGACTGGGTAAT TGATAAAGGAAAGAGGTTTAAAGGTCTCACAGTTCCACAGGGCCTGGGAG GCCTCATAACCATGGCAGAAGGCGAATGAGGACCAAAGTAATGTCTTACA TGGCAGCAGGGAAGAGGGCGTGTGCAGGGGAACTCCCACTTATAAAACCA TCAGATCTTGTGAGACTTATTCACTACCATGAGAACAGTATGGGGGAAAC TGCCCCCACGATTCAGTTTTCTGCACCCGGCCCCCACCCTTGATACCTGG GGATTATTACAATTCAAGGTAAGATGTGGGTGGTGACACAGCCAAACCAT ATCAGCTGGGGATAGAATTCTATGATGAAAACCTTCAGACCTCTAATAGA TTTACTCGCTCTTTTCTAGAATTGAGCATTTCTGGTGAGTAGGTGGATGC CAGTTCTGACAGCATCTTTTGCTTTTTAAAAATTATTATTATTATTTTGA GAGGGAGTATTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTG TCTCACTGCAACCTCCCCTTCCCAGGTTCAAACGATTCTCCTTCCTCAGC CTCCCAAGTAGGTGGAACTATAGGCGCACACCACTGTGCCCAGCTAATTT TTGTATTTTTGTTTTAGAGACAGGTTTTCACCGTGTTGGCCAGGCTGGTC TCAAACTCCTGACCTCGTGATCCACCCACCTAGGCCTCCCAAAGTTCTGG AATTACATGCGCGAACTACTGCGCCTGACCATATCTTTTGCTTTTTTACT TAAGCTTTTTCTGTTTATCATTCTGAGGTCTATAATTCCAAAGGCCGTGT GGGGATCTACAGGTTGATCTCTTCCTGACTCACATCATTGCAGGAACTTT CTAAGCATAGGCTTCCTCCACCCTGACAGCAATCCCATATCTTTATCTGC ATTGCATCTTCTTGAAGTAATTTAAAATCTCACTGGAGAGTGAACTGCTT CAGAGGAAGATTCTCATAGCTTAGCAGTTCCTAAGCTGTGATACCAGAAA TAGTTGTTGAGTCTGTGGGTCAGGTATTCACGCAAGGCTCAGCAGGGAGT ACTTGTTACAAATCAACAAAGGTCTCTTCTCCAAAAACTATATATCCGAA AATACAACTCATTAAAAAATGAGTCAGAATTTCAACAAGCATTTCCCAAA AGTGAATATCCAAATGGCCACTAAGCTCATGAGAAGGTGCTCAACATCAT TAGACAGCAGAAAGTTAAAAACCCCTAAGATCCTACTGTATCCCCACTAG AATGGCTGATATTGAAAGGACCGACAATTGTTGGTGATTTATGGAGTAAC TGGAACTGTCATGCATTGCTGGTGGGAAAGCCACTTTGGAATACTGGCAC TGTCAACTAGAGCTAAACATACATCTACCCAGGACCCAGAAGTCCTACCC TACAGGAATGAGTCCTAATGGATTCCAAGAACCAGGTATAATGATGCCAA AAGCAGCTTTATTTTAAATAGCCAATAACTGAAAACAATCCAAATTCCAT GAATAGAAGAATGAACAAATGAACTGTGGTTTATCAACACAATTCCATCA TTCGTATAATGGAATACTTACTCTGCTATAATGAAAATAAATGTGCTAAC ACTATGTGCAAAAACATGGATGGGTCTCACAGATGTGTTGAGTAAAAGGA TCCAGACAGGAGAAAGGACACACAATCTCATTCCACTTACACGAAAATCA GGGGAGGGAAATGAGTCCATGGTATCAGAGGTCAGATGATTGGTGACCTT GGTGAGAACTGGAAGGTTGCCTATTGAAGGCTCCTGGTGCAGTGCTGTAA GTTTTCTCTCTTTATCTGGGAGGTGATTCCAGAAGAGTATCCAAGTGGAA AAGCCCACAGAGTAGCACACTTAAGGCCTGTACACTGTATGTGTATTCAC TTCAATGAAAAGCATGCACATATGTCTTACATTATTTGTGTGCTTGTGTT GGTTTGCTTTCCCTCATAATATGTCAATGTCATGAAGGCATGTGTTTTTG TATCTTCTTGTTCACTGATGTAACGGGTGTTTGCATATCACCTAGCACAG TCCTTGAGCATAGTAGGTGCTCACTTAATAGTTATTAAGCAAATTATAGG TTCGTCTTAAAGGTGTGATTTCAAATTCCCTTTAGATTTTTATTCATGCC TACTTCTTTGGATAGGTGAGACTGGTGTGCATGTATACTCTTAGATTGTA CCATTTTTTCTCTTTAACATTTTACTTCTCTTTCTTTTTTTGAGACAGAG TCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCGCAGTCTCAGCTCACT GCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCTGA GTAACTGGGACTACTGGCATACACCACCACACCTGGCTAATTTTTGTATT TTTGGTAGAGATGAAGTTTTGCCATGATGGCCAGGCTGGTCTCGAACTCC GGGCCTCAAGTTATCTGCCCACCTCTACCCCTCAGAGTGCTGGGATTAAA GGTGTGAGCCACTGCGCCTGGCCTAACATTTAACTTAAAAAATCTGTGTA TGGGCTGGGCTTGGTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCAGGCAGATCACGAGGTCAGGAGAGCGAGACCATCCTGGCTAACAT GGTGAAACCACTTCCCTAGTAAAAATACAAAAATTAGCCGGGTGTGGTGG CTCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCCGGACAATCGCT TGAACTTGGGAGGTGGAGCCTTCAGTGAGCCGAGATAGTGCCACTCCTCT CCAGTCTGGGCAATAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAACT GTATATGTTGGCAGTCTATATGCATGCCTACTTCTAATATTGATGGCTAT CTCACATTAGTTCCTGTGGATTAACTATAGTTTGCCTAGTCATTCTTATG CTATGGCGTATGTGGATTTTTCTAACTTATTTATTTGTTTTTAGAGCAGG GTGATCATGTTTTGACTAATTCCTTCCCATTTTTGGTTACTTTGAGTAGA TCCCCAAAGGTGATTACTATAAGGTAAAGGGTGAGACTGGTTTAATGGTA TAACAGATAATTTGATTGCTCTCCAGAGACAATAACTTAATTTATGGTGC CACCAGCAAGGTACAGTACACGGACCTTTCTGCACTATTTTAGGCACTTA GGAGATCGCAATTTCATCTTACGATTTTTTTTTTAATAAGAACACCTTCA AATATTCTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGG GAGGCTGAAGCCGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTA GCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGG CGTGGTGGTGGACAACTGTAATCCCAGCTATTCAGGAGGCCGAGGCACAA GAATCGCTTGAACCTGGGAGGCAGAAGTTGCACTGAGCCAAGATCGTGCC ATTGCACACTGCACTCCAGCTTGGGCGACAGAGTGAGAGTCCACCTCAAC AACAACAACAACAACAACAAAAAGAATACCCTTAAATTTTCTACCTTCAC CTTTTTTGTTTATAGGTTGTGCATGTTTCTGCCAATGAATCACAGTCTAT GAATCTACTTGTTCGTGAATCTCCTGTATAAAACTCTCTGTTTACCCATT CTCTACCGGTGGCTTAGTCATCTCCAGGAGAAAGATTAAAGAATGATCTT GTGGCAGTCAAGGCTTTTTCTCCCATAGGCACAATGTAATTAATTGTGAT TTTGTTCTTGGTTTCCTGTGGCATAATGTGATGGTTAGTTTTCTGTGTCA ACTTGACTGGGCTAAGGGATGCTCAGATGGCAGGTAAAATCATTGTGTTT GTGAGGGTGTTACCAGAAGAGATTTGCCTTTCAATGAGAAGACTGAGCCA AGATTTCTCTCAGCAATGAAGGGGGCTTCCAACAAACTGTCAAGGTCTAG AGAGAAGAAAAAACAGAGGAAGGGTGAATTTGACCTCTCTGACTGGGACA TCCATCTCCACCTATCCTGGGACCTCCACACTCCTGGTTCTCTGGCCTTC AGACTTGATCAGGGACTAACACCATCGCCTCCCACCCCCACCTTTGTTCT GAGGCCTTTAGACTCACACTGAATGATACCGCTGGCCTTTCCCGCTTCTC TGTCCTGCAGCCAGCTGATCGTGGGACTTCACTCCAAAATTATGTGAGCC AGTTCCCACAAGAGATACATAAATTTGTAAATAAACACACAAATTTCCTA CAGGCTTATCTTAGTGGCGTCACTTCAAATTTTGAAGACCCTTGACTAGT ACACGTAGCAACAAAAAATA	A A	transcript_ablation transcript_ablation	HIGH	HG02055.hp2 HG02257.hp1 HG02258.hp1 others(18): Show HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	21	270	0.0778	-14819	c.-39 others(11): Show c.-3947_*5450del	p.0? p.0?	GSTM1	ENSG00000134184.13	transcript	ENST00000309851.10	protein_coding	8/8						chr1	TogoVar
GSTO1_chr10_104249892_104272455	104263071	AGAG AGAG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(15): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG02055.hp2 HG02155.hp1 HG02559.hp2 HG02602.hp2 HG03491.hp2 HG03688.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18948.hp1 NA18997.hp1 NA19056.hp2 NA19240.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0071 a0003c0003t0001g0081 a0003c0003t0001g0004 a0003c0003t0001g0071 a0003c0003t0001g0081	18	376	0.0479	-3	c.464 others(12): Show c.464_465+1delAGG	p.Glu others(5): Show p.Glu155fs	GSTO1	ENSG00000148834.13	transcript	ENST00000369713.10	protein_coding	4/6	501/813	464/726	155/241		INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0008 a0007c0007 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001 a0007c0007t0001 a0008c0009t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0002c0002t0001g0028 a0002c0002t0001g0067 a0002c0002t0001g0184 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0318 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0034 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0098 a0003c0003t0001g0235 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0323 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0343 a0003c0003t0001g0348 a0003c0003t0001g0349 a0003c0003t0001g0350 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0004c0005t0001g0185 a0004c0005t0001g0186 a0004c0005t0001g0214 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0276 a0005c0006t0001g0110 a0006c0008t0001g0223 a0006c0008t0001g0226 a0007c0007t0001g0014 a0007c0007t0001g0019 a0007c0007t0001g0065 a0008c0009t0001g0189 a0008c0009t0001g0190	110	372	0.2957	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3						chr3	TogoVar
H1-8_chr3_129538175_129556467	129547457	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show HG01109.hp2 HG01175.hp2 HG01433.hp2 HG01496.hp2 HG02055.hp2 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp2 NA18941.hp2 NA19011.hp1 NA19062.hp2 NA19083.hp1 NA19083.hp2	a0005 a0010 a0005 a0010	a0005c0007 a0005c0017 a0005c0018 others(3): Show a0005c0007 a0005c0017 a0005c0018 a0005c0019 a0005c0020 a0010c0014	a0005c0007t0001 a0005c0007t0003 a0005c0017t0001 others(4): Show a0005c0007t0001 a0005c0007t0003 a0005c0017t0001 a0005c0018t0001 a0005c0019t0001 a0005c0020t0001 a0010c0014t0001	a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0015 others(8): Show a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0015 a0005c0007t0001g0075 a0005c0007t0001g0085 a0005c0007t0003g0002 a0005c0017t0001g0011 a0005c0018t0001g0008 a0005c0019t0001g0004 a0005c0020t0001g0001 a0010c0014t0001g0003	15	420	0.0357	1	c.161 others(4): Show c.161dupC	p.Val others(4): Show p.Val55fs	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding	2/5	206/1212	162/1041	54/346		INFO_REALIGN_3_PRIME	chr3	TogoVar
HECTD4_chr12_112155195_112387431	112185241	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show HG01175.hp1 HG01433.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02738.hp1 HG02809.hp2 HG03516.hp1 HG03654.hp1 NA18947.hp2 NA18950.hp2 NA18980.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19030.hp1 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19091.hp2	a0002 a0015 a0002 a0015	a0002c0004 a0002c0005 a0002c0006 others(2): Show a0002c0004 a0002c0005 a0002c0006 a0002c0026 a0015c0017	a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 others(6): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0005t0001 a0002c0006t0002 a0002c0026t0001 a0015c0017t0001	a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 others(19): Show a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 a0002c0004t0003g0039 a0002c0004t0003g0052 a0002c0004t0004g0063 a0002c0004t0005g0048 a0002c0004t0005g0057 a0002c0004t0007g0036 a0002c0005t0001g0165 a0002c0005t0001g0170 a0002c0005t0001g0197 a0002c0005t0001g0199 a0002c0005t0001g0231 a0002c0005t0001g0239 a0002c0005t0001g0246 a0002c0006t0002g0089 a0002c0006t0002g0094 a0002c0006t0002g0097 a0002c0006t0002g0126 a0002c0026t0001g0215 a0015c0017t0001g0190	22	267	0.0824	1	c.972 others(5): Show c.9724dupG	p.Ala others(6): Show p.Ala3242fs	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	61/76	10027/15752	9724/13257	3242/4418			chr12	TogoVar
HIBCH_chr2_190198920_190324826	190319749	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19010.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0009 a0003c0003 a0003c0004 a0003c0009	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0004t0005 a0003c0009t0003	a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0005g0011 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0005g0176 a0003c0003t0005g0177 a0003c0003t0005g0178 a0003c0003t0005g0180 a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0186 a0003c0003t0005g0187 a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0192 a0003c0003t0005g0193 a0003c0003t0005g0194 a0003c0003t0005g0196 a0003c0003t0005g0198 a0003c0003t0005g0199 a0003c0003t0007g0016 a0003c0003t0007g0026 a0003c0003t0007g0036 a0003c0003t0007g0042 a0003c0003t0009g0059 a0003c0003t0009g0060 a0003c0003t0013g0048 a0003c0003t0014g0173 a0003c0003t0017g0200 a0003c0003t0020g0346 a0003c0004t0005g0181 a0003c0004t0005g0182 a0003c0004t0005g0183 a0003c0009t0003g0079	103	366	0.2814	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/14	78/2434	2/1161	1/386			chr2	TogoVar
HID1_chr17_74945742_74977759	74963082	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show HG02055.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0001 a0001c0006t0001 a0001c0019t0002 a0001c0001t0001 a0001c0006t0001 a0001c0019t0002	a0001c0001t0001g0188 a0001c0006t0001g0020 a0001c0006t0001g0021 others(3): Show a0001c0001t0001g0188 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0038 a0001c0006t0001g0193 a0001c0019t0002g0189	11	362	0.0304	0	c.388 others(5): Show c.388-1G>T		HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding	3/18						chr17	TogoVar
HLA-A_chr6_29937532_29950870	29943450	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG02055.hp1 HG02280.hp2 others(10): Show HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp2 HG03834.hp2 NA18948.hp1 NA19240.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0006 a0013c0011t0006	a0013c0011t0006g0009 a0013c0011t0006g0024 a0013c0011t0006g0009 a0013c0011t0006g0024	13	402	0.0323	0	c.526 others(3): Show c.526G>T	p.Glu others(4): Show p.Glu176*	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding	3/8	548/1535	526/1098	176/365			chr6	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0006 a0007 a0009 others(13): Show a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0030 a0032 a0034 a0035	a0006c0008 a0006c0010 a0006c0037 others(15): Show a0006c0008 a0006c0010 a0006c0037 a0007c0006 a0009c0009 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0018 a0016c0022 a0017c0021 a0018c0019 a0019c0020 a0030c0035 a0032c0034 a0034c0036 a0035c0031	a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 others(18): Show a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 a0006c0010t0026 a0006c0037t0006 a0007c0006t0003 a0009c0009t0006 a0009c0009t0020 a0011c0012t0006 a0012c0013t0008 a0013c0014t0007 a0014c0015t0001 a0015c0018t0013 a0016c0022t0003 a0017c0021t0003 a0018c0019t0014 a0019c0020t0003 a0030c0035t0006 a0032c0034t0016 a0034c0036t0003 a0035c0031t0029	a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 a0006c0008t0012g0009 a0006c0010t0003g0007 a0006c0010t0003g0101 a0006c0010t0026g0007 a0006c0037t0006g0067 a0007c0006t0003g0005 a0009c0009t0006g0015 a0009c0009t0006g0033 a0009c0009t0006g0078 a0009c0009t0006g0079 a0009c0009t0006g0080 a0009c0009t0020g0084 a0009c0009t0020g0085 a0011c0012t0006g0010 a0012c0013t0008g0027 a0012c0013t0008g0029 a0012c0013t0008g0066 a0012c0013t0008g0068 a0013c0014t0007g0014 a0013c0014t0007g0072 a0014c0015t0001g0021 a0014c0015t0001g0077 a0015c0018t0013g0034 a0016c0022t0003g0013 a0017c0021t0003g0038 a0018c0019t0014g0042 a0019c0020t0003g0007 a0030c0035t0006g0015 a0032c0034t0016g0087 a0034c0036t0003g0013 a0035c0031t0029g0062	116	454	0.2555	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(21): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(22): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	131	203	0.6453	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(22): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0015c0014 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(23): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0015c0014t0013 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0015c0014t0013g0013 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	136	208	0.6538	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266			chr6	TogoVar
HLA-G_chr6_29822825_29836021	29828657	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02055.hp1 HG02280.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG03834.hp1 NA18948.hp2 NA19240.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0002 a0005c0008t0002g0002	12	478	0.0251	-1	c.460 others(4): Show c.460delC	p.Leu others(5): Show p.Leu154fs	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding	3/7	480/1319	460/1017	154/338		INFO_REALIGN_3_PRIME	chr6	TogoVar
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(158): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179	a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 others(160): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0002 a0001c0013t0001 a0001c0014t0001 a0001c0015t0007 a0001c0016t0001 a0001c0017t0005 a0001c0018t0008 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0004 a0001c0027t0002 a0001c0028t0005 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0003 a0001c0040t0004 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0017 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0016 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0006 a0001c0093t0001 a0001c0094t0011 a0001c0095t0001 a0001c0096t0001 a0001c0097t0001 a0001c0098t0001 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0006 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0001 a0001c0115t0001 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0010 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0010 a0001c0139t0005 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0003 a0001c0152t0003 a0001c0153t0004 a0001c0154t0001 a0001c0155t0002 a0001c0156t0002 a0001c0157t0002 a0001c0158t0002 a0001c0159t0013 a0001c0160t0002 a0001c0161t0002 a0001c0162t0002 a0001c0163t0002 a0001c0164t0002 a0001c0165t0002 a0001c0166t0009 a0001c0167t0002 a0001c0168t0002 a0001c0169t0018 a0001c0170t0002 a0001c0171t0002 a0001c0172t0002 a0001c0173t0002 a0001c0174t0002 a0001c0175t0002 a0001c0176t0005 a0001c0177t0005 a0001c0178t0008 a0001c0179t0005	a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0161 a0001c0002t0002g0190 a0001c0002t0012g0176 a0001c0003t0001g0003 a0001c0004t0003g0004 a0001c0005t0001g0010 a0001c0005t0006g0016 a0001c0006t0001g0006 a0001c0006t0001g0030 a0001c0007t0001g0005 a0001c0010t0001g0007 a0001c0011t0002g0014 a0001c0011t0002g0188 a0001c0013t0001g0011 a0001c0014t0001g0013 a0001c0015t0007g0012 a0001c0016t0001g0015 a0001c0017t0005g0026 a0001c0017t0005g0151 a0001c0018t0008g0018 a0001c0020t0001g0020 a0001c0021t0001g0021 a0001c0022t0001g0022 a0001c0023t0001g0023 a0001c0024t0001g0024 a0001c0025t0001g0019 a0001c0026t0004g0028 a0001c0027t0002g0029 a0001c0028t0005g0027 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0039 a0001c0035t0001g0041 a0001c0036t0001g0042 a0001c0037t0001g0032 a0001c0038t0001g0033 a0001c0039t0003g0045 a0001c0040t0004g0044 a0001c0041t0002g0046 a0001c0042t0002g0047 a0001c0043t0002g0048 a0001c0044t0002g0049 a0001c0045t0002g0050 a0001c0058t0001g0114 a0001c0059t0001g0115 a0001c0060t0001g0116 a0001c0061t0001g0117 a0001c0062t0001g0067 a0001c0063t0001g0068 a0001c0064t0001g0069 a0001c0065t0001g0070 a0001c0066t0001g0071 a0001c0067t0001g0072 a0001c0068t0001g0073 a0001c0069t0001g0052 a0001c0070t0001g0074 a0001c0072t0001g0076 a0001c0073t0001g0077 a0001c0074t0001g0078 a0001c0075t0001g0079 a0001c0076t0001g0080 a0001c0077t0001g0081 a0001c0078t0001g0082 a0001c0079t0001g0083 a0001c0080t0001g0084 a0001c0081t0001g0085 a0001c0082t0001g0086 a0001c0083t0001g0087 a0001c0084t0017g0088 a0001c0085t0001g0089 a0001c0086t0001g0090 a0001c0087t0001g0091 a0001c0088t0016g0092 a0001c0089t0001g0093 a0001c0090t0001g0094 a0001c0091t0014g0095 a0001c0092t0006g0096 a0001c0093t0001g0097 a0001c0094t0011g0098 a0001c0095t0001g0099 a0001c0096t0001g0100 a0001c0097t0001g0101 a0001c0098t0001g0102 a0001c0099t0001g0103 a0001c0100t0001g0104 a0001c0101t0001g0105 a0001c0102t0001g0106 a0001c0103t0001g0107 a0001c0104t0006g0108 a0001c0105t0001g0109 a0001c0106t0001g0110 a0001c0107t0001g0160 a0001c0108t0001g0111 a0001c0109t0001g0112 a0001c0110t0001g0118 a0001c0111t0001g0119 a0001c0112t0001g0120 a0001c0113t0001g0121 a0001c0114t0001g0122 a0001c0115t0001g0123 a0001c0116t0001g0124 a0001c0117t0001g0125 a0001c0118t0001g0126 a0001c0119t0001g0127 a0001c0120t0001g0128 a0001c0121t0001g0129 a0001c0122t0001g0130 a0001c0123t0001g0131 a0001c0124t0001g0132 a0001c0125t0001g0133 a0001c0126t0001g0134 a0001c0127t0001g0135 a0001c0128t0001g0136 a0001c0129t0001g0137 a0001c0130t0001g0138 a0001c0131t0001g0139 a0001c0132t0001g0140 a0001c0133t0001g0141 a0001c0134t0010g0142 a0001c0135t0001g0143 a0001c0136t0001g0144 a0001c0137t0001g0145 a0001c0138t0010g0146 a0001c0139t0005g0113 a0001c0140t0001g0055 a0001c0141t0001g0056 a0001c0142t0001g0057 a0001c0143t0001g0058 a0001c0144t0001g0059 a0001c0145t0001g0060 a0001c0146t0001g0061 a0001c0147t0001g0062 a0001c0148t0001g0063 a0001c0149t0001g0064 a0001c0150t0001g0065 a0001c0151t0003g0172 a0001c0152t0003g0156 a0001c0153t0004g0155 a0001c0154t0001g0066 a0001c0155t0002g0173 a0001c0156t0002g0174 a0001c0157t0002g0157 a0001c0158t0002g0158 a0001c0159t0013g0159 a0001c0160t0002g0175 a0001c0161t0002g0177 a0001c0162t0002g0170 a0001c0163t0002g0178 a0001c0164t0002g0051 a0001c0165t0002g0179 a0001c0166t0009g0180 a0001c0167t0002g0181 a0001c0168t0002g0182 a0001c0169t0018g0191 a0001c0170t0002g0183 a0001c0171t0002g0184 a0001c0172t0002g0185 a0001c0173t0002g0186 a0001c0174t0002g0187 a0001c0175t0002g0171 a0001c0176t0005g0152 a0001c0177t0005g0153 a0001c0178t0008g0150 a0001c0179t0005g0154	381	415	0.9181	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850			chr1	TogoVar
HSD17B13_chr4_87298794_87327882	87317092	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02055.hp2 HG02895.hp1 HG03225.hp1 HG02055.hp2 HG02895.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0177 a0004c0005t0007g0178 a0004c0005t0007g0229 a0004c0005t0007g0177 a0004c0005t0007g0178 a0004c0005t0007g0229	3	440	0.0068	0	c.450 others(3): Show c.450G>A	p.Trp others(4): Show p.Trp150*	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	3/7	491/2368	450/903	150/300			chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CAGCAGCA others(10): Show CAGCAGCAGCAGCAGCAG	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02055.hp2	a0040 a0040	a0040c0043 a0040c0043	a0040c0043t0015 a0040c0043t0015	a0040c0043t0015g0005 a0040c0043t0015g0005	1	132	0.0076	17	c.51_ others(22): Show c.51_52insAGCAGCAGCAGCAGCAG	p.Gln others(4): Show p.Gln18fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	197/13472	52/9429	18/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3074931	CAGCAA CAGCAA	C C	frameshift_variant frameshift_variant	HIGH	HG01975.hp2 HG02055.hp1 HG02257.hp2 others(1): Show HG01975.hp2 HG02055.hp1 HG02257.hp2 HG02717.hp2	a0016 a0016	a0016c0020 a0016c0077 a0016c0020 a0016c0077	a0016c0020t0003 a0016c0077t0003 a0016c0020t0003 a0016c0077t0003	a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 others(1): Show a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 a0016c0077t0003g0182	4	292	0.0137	-5	c.107 others(12): Show c.107_111delAGCAA	p.Gln others(4): Show p.Gln36fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	252/13472	107/9429	36/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3074938	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01975.hp2 HG02055.hp1 others(2): Show HG01070.hp1 HG01975.hp2 HG02055.hp1 HG02257.hp2 HG02717.hp2	a0016 a0034 a0016 a0034	a0016c0020 a0016c0077 a0034c0044 a0016c0020 a0016c0077 a0034c0044	a0016c0020t0003 a0016c0077t0003 a0034c0044t0002 a0016c0020t0003 a0016c0077t0003 a0034c0044t0002	a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 others(2): Show a0016c0020t0003g0175 a0016c0020t0003g0176 a0016c0020t0003g0181 a0016c0077t0003g0182 a0034c0044t0002g0187	5	172	0.0291	-1	c.114 others(4): Show c.114delG	p.Gln others(4): Show p.Gln38fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	259/13472	114/9429	38/3142			chr4	TogoVar
INSL4_chr9_5226419_5240304	5231525	T T	C C	start_lost start_lost	HIGH	HG02055.hp2 HG02109.hp2 HG02145.hp1 others(2): Show HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02886.hp2 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0003 a0003c0006t0001g0003	5	426	0.0117	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	INSL4	ENSG00000120211.4	transcript	ENST00000239316.4	protein_coding	1/2	107/1952	2/420	1/139			chr9	TogoVar
IQSEC1_chr3_12892043_13078429	12901341	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01978.hp1 HG01978.hp2 HG02027.hp1 others(14): Show HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG03927.hp1 HG03927.hp2 NA18956.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp2 NA20300.hp2	a0002 a0010 a0017 a0002 a0010 a0017	a0002c0002 a0002c0014 a0002c0017 others(2): Show a0002c0002 a0002c0014 a0002c0017 a0010c0027 a0017c0021	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0052 a0002c0002t0062 a0002c0014t0002 a0002c0017t0070 a0010c0027t0056 a0017c0021t0003	a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 others(14): Show a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0111 a0002c0002t0001g0139 a0002c0002t0001g0179 a0002c0002t0002g0014 a0002c0002t0002g0158 a0002c0002t0005g0091 a0002c0002t0009g0197 a0002c0002t0010g0100 a0002c0002t0052g0044 a0002c0002t0062g0203 a0002c0014t0002g0121 a0002c0017t0070g0230 a0010c0027t0056g0053 a0017c0021t0003g0151	17	248	0.0685	1	c.298 others(5): Show c.2986dupC	p.His others(5): Show p.His996fs	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	14/14	3401/7700	2986/3345	996/1114			chr3	TogoVar
ITPR2_chr12_26330352_26838194	26681871	T T	TACTC TACTC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18980.hp1 NA19056.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0012	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0035 a0001c0037 a0001c0044 a0001c0045 a0001c0046 a0001c0048 a0001c0049 a0001c0051 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0065 a0002c0009 a0002c0010 a0002c0017 a0002c0023 a0002c0052 a0003c0032 a0003c0033 a0003c0038 a0003c0047 a0004c0014 a0006c0066 a0007c0036 a0008c0053 a0009c0050 a0012c0063	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(89): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0035 a0001c0001t0052 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0002t0029 a0001c0002t0036 a0001c0002t0040 a0001c0002t0046 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0001c0006t0026 a0001c0006t0030 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0007t0021 a0001c0011t0001 a0001c0011t0002 a0001c0011t0008 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0015t0004 a0001c0015t0044 a0001c0016t0003 a0001c0016t0042 a0001c0020t0032 a0001c0021t0002 a0001c0021t0006 a0001c0022t0002 a0001c0022t0003 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0030t0004 a0001c0031t0009 a0001c0034t0004 a0001c0035t0027 a0001c0037t0009 a0001c0044t0001 a0001c0045t0001 a0001c0046t0002 a0001c0048t0012 a0001c0049t0028 a0001c0051t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0001c0065t0024 a0002c0009t0001 a0002c0009t0041 a0002c0010t0007 a0002c0010t0012 a0002c0010t0016 a0002c0017t0018 a0002c0023t0019 a0002c0052t0001 a0003c0032t0009 a0003c0033t0034 a0003c0038t0009 a0003c0047t0004 a0004c0014t0013 a0006c0066t0001 a0007c0036t0015 a0008c0053t0038 a0009c0050t0003 a0012c0063t0001	a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 others(101): Show a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0001t0003g0081 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0007g0053 a0001c0001t0017g0102 a0001c0001t0035g0060 a0001c0001t0052g0134 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0004g0099 a0001c0002t0006g0028 a0001c0002t0007g0027 a0001c0002t0008g0036 a0001c0002t0017g0077 a0001c0002t0029g0079 a0001c0002t0036g0024 a0001c0002t0040g0054 a0001c0002t0046g0125 a0001c0003t0001g0043 a0001c0003t0001g0068 a0001c0003t0014g0044 a0001c0003t0014g0045 a0001c0003t0023g0135 a0001c0003t0033g0088 a0001c0004t0001g0004 a0001c0004t0003g0100 a0001c0004t0006g0065 a0001c0004t0010g0120 a0001c0004t0011g0130 a0001c0004t0048g0117 a0001c0005t0002g0046 a0001c0005t0005g0093 a0001c0006t0001g0067 a0001c0006t0003g0055 a0001c0006t0026g0002 a0001c0006t0030g0017 a0001c0007t0001g0064 a0001c0007t0002g0073 a0001c0007t0005g0048 a0001c0007t0021g0119 a0001c0011t0001g0021 a0001c0011t0002g0040 a0001c0011t0008g0051 a0001c0012t0005g0010 a0001c0012t0006g0087 a0001c0012t0039g0086 a0001c0015t0004g0032 a0001c0015t0044g0106 a0001c0016t0003g0019 a0001c0016t0042g0107 a0001c0020t0032g0069 a0001c0021t0002g0050 a0001c0021t0006g0020 a0001c0022t0002g0005 a0001c0022t0003g0089 a0001c0028t0001g0023 a0001c0028t0010g0127 a0001c0029t0011g0132 a0001c0029t0049g0123 a0001c0030t0004g0022 a0001c0031t0009g0003 a0001c0034t0004g0057 a0001c0035t0027g0013 a0001c0037t0009g0059 a0001c0044t0001g0074 a0001c0045t0001g0042 a0001c0046t0002g0070 a0001c0048t0012g0091 a0001c0049t0028g0103 a0001c0051t0002g0031 a0001c0058t0050g0118 a0001c0059t0002g0097 a0001c0060t0002g0076 a0001c0061t0045g0116 a0001c0062t0020g0128 a0001c0064t0008g0011 a0001c0065t0024g0141 a0002c0009t0001g0015 a0002c0009t0001g0016 a0002c0009t0041g0110 a0002c0010t0007g0090 a0002c0010t0012g0026 a0002c0010t0016g0014 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0023t0019g0113 a0002c0023t0019g0114 a0002c0052t0001g0080 a0003c0032t0009g0056 a0003c0033t0034g0038 a0003c0038t0009g0025 a0003c0047t0004g0083 a0004c0014t0013g0033 a0004c0014t0013g0085 a0006c0066t0001g0062 a0007c0036t0015g0101 a0008c0053t0038g0082 a0009c0050t0003g0030 a0012c0063t0001g0094	104	140	0.7429	4	c.140 others(17): Show c.1409+2_1409+3insGAGT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56						chr12	TogoVar
JSRP1_chr19_2247252_2261417	2255312	C C	G G	start_lost start_lost	HIGH	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 others(4): Show a0002c0003 a0002c0004 a0002c0008 a0002c0010 a0002c0011 a0002c0013 a0002c0014	a0002c0003t0001 a0002c0004t0001 a0002c0008t0001 others(4): Show a0002c0003t0001 a0002c0004t0001 a0002c0008t0001 a0002c0010t0001 a0002c0011t0001 a0002c0013t0001 a0002c0014t0001	a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 others(23): Show a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0025 a0002c0003t0001g0036 a0002c0003t0001g0041 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0076 a0002c0004t0001g0004 a0002c0004t0001g0021 a0002c0004t0001g0027 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0008t0001g0022 a0002c0010t0001g0039 a0002c0010t0001g0043 a0002c0011t0001g0026 a0002c0013t0001g0044 a0002c0014t0001g0042	114	434	0.2627	0	c.3G> others(1): Show c.3G>C	p.Met others(2): Show p.Met1?	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	2/7	68/1138	3/996	1/331			chr19	TogoVar
KCNC3_chr19_50306937_50334377	50323201	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show HG00438.hp1 HG00597.hp2 HG01109.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG03927.hp2 NA18947.hp2 NA18954.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19085.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0014 a0001c0001 a0001c0002 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 a0001c0001t0071 a0001c0002t0010 a0001c0002t0011 a0013c0014t0032	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0010 a0001c0001t0002g0142 a0001c0001t0004g0005 a0001c0001t0005g0041 a0001c0001t0007g0006 a0001c0001t0009g0215 a0001c0001t0022g0007 a0001c0001t0071g0212 a0001c0002t0010g0026 a0001c0002t0011g0103 a0013c0014t0032g0147	14	378	0.0370	1	c.175 others(5): Show c.1751dupC	p.Pro others(5): Show p.Pro585fs	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	2/5	2046/6747	1751/2274	584/757			chr19	TogoVar
KCTD14_chr11_78010715_78028276	78023248	A A	T T	start_lost start_lost	HIGH	HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0004t0002	a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0063 others(9): Show a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0036 a0002c0003t0004g0065 a0002c0003t0005g0035 a0002c0003t0005g0038 a0002c0003t0005g0062 a0002c0004t0002g0027	26	466	0.0558	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	KCTD14	ENSG00000151364.17	transcript	ENST00000353172.6	protein_coding	1/2	29/1673	2/768	1/255			chr11	TogoVar
KCTD1_chr18_26449910_26553553	26547048	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp1 HG03139.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18978.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0014 others(1): Show a0002c0003 a0002c0006 a0002c0014 a0002c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0006t0001 a0002c0014t0003 a0002c0016t0001	a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 others(32): Show a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0306 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0002g0304 a0002c0003t0002g0307 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0004g0327 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0014t0003g0305 a0002c0016t0001g0334	35	336	0.1042	1	c.148 others(5): Show c.1488dupC	p.Thr others(5): Show p.Thr497fs	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1505/3448	1488/2598	496/865			chr18	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0276 a0001c0001t0003g0208 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0110 a0001c0001t0007g0269 a0001c0003t0001g0280 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0321 a0001c0005t0001g0091 a0001c0005t0001g0095 a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0010t0001g0024 a0003c0004t0001g0202 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0248	191	368	0.5190	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr1	TogoVar

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