Joint Open Genome and Omics Platform (JoGo)

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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	status	chr	external
ENAH_chr1_225481829_225658123	225519331	ATCCAGGC others(29): Show ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp1 NA18946.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0013 a0008c0012t0013	a0008c0012t0013g0034 a0008c0012t0013g0034	1	278	0.0036	-36	c.633 others(43): Show c.633_668delGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu211_Leu222del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	633/1713	211/570		chr1	TogoVar
EP400_chr12_131944942_132085460	132062548	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 NA18993.hp1 HG02647.hp1 NA18993.hp1	a0014 a0018 a0014 a0018	a0014c0067 a0018c0035 a0014c0067 a0018c0035	a0014c0067t0001 a0018c0035t0001 a0014c0067t0001 a0018c0035t0001	a0014c0067t0001g0195 a0018c0035t0001g0089 a0014c0067t0001g0195 a0018c0035t0001g0089	2	116	0.0172	-3	c.822 others(12): Show c.8223_8225delGCA	p.Gln others(7): Show p.Gln2742del	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8353/12289	8223/9372	2741/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EPHA8_chr1_22558489_22608595	22598984	GGTGTCTG others(5): Show GGTGTCTGACTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp2 NA18985.hp2	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0001 a0017c0041t0001	a0017c0041t0001g0036 a0017c0041t0001g0036	1	340	0.0029	-12	c.232 others(21): Show c.2327_2338delTGTCTGACTTCG	p.Val others(13): Show p.Val776_Phe779del	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/17	2474/5019	2327/3018	776/1005	INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB6_chr7_142850076_142876093	142864293	CCCT CCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0004 a0001c0007 others(14): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0010 a0006c0025	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0001c0007t0001 a0001c0008t0006 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0006 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0010t0001 a0006c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0007g0016 a0001c0001t0007g0090 a0001c0001t0008g0001 a0001c0001t0010g0054 a0001c0001t0011g0001 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0008 a0001c0004t0001g0053 a0001c0004t0001g0061 a0001c0007t0001g0007 a0001c0008t0006g0024 a0001c0008t0006g0088 a0001c0009t0001g0001 a0001c0011t0001g0001 a0001c0011t0001g0015 a0001c0012t0001g0001 a0001c0012t0001g0004 a0001c0013t0001g0009 a0001c0018t0006g0086 a0001c0019t0001g0010 a0001c0020t0001g0112 a0001c0021t0001g0001 a0001c0022t0001g0001 a0001c0023t0001g0001 a0001c0024t0001g0001 a0005c0010t0001g0019 a0006c0025t0001g0002	228	268	0.8507	-3	c.519 others(10): Show c.519_521delCTC	p.Ser others(6): Show p.Ser174del	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	7/20	1260/3999	519/3069	173/1022	INFO_REALIGN_3_PRIME	chr7	TogoVar
EPPK1_chr8_143852324_143883467	143858128	GCGGTTCA others(3194): Show GCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC AGGAGCTCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC GGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCA CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC CTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCG AGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTAT CTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAG GAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCA TCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGC ACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGG GTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCG TGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACA CGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGG CACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGG CCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATG GCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGT GACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCA CGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGG TCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGT GCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCT CCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAG CTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTG CAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGA TCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGG AAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAG GACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCA GGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCC CACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGT GGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGG CGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCC GAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCA GGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGA TGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAG CCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGA CGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCT TGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGG CTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAG CGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGT ATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAG AGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGG CGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGT GCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCC GGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTG CGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGA CA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp1 HG01074.hp2 HG01261.hp2 others(5): Show HG00597.hp1 HG01074.hp2 HG01261.hp2 HG01346.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG03471.hp1	a0018 a0035 a0055 others(2): Show a0018 a0035 a0055 a0075 a0117	a0018c0017 a0035c0180 a0035c0181 others(3): Show a0018c0017 a0035c0180 a0035c0181 a0055c0108 a0075c0151 a0117c0121	a0018c0017t0002 a0035c0180t0002 a0035c0181t0006 others(3): Show a0018c0017t0002 a0035c0180t0002 a0035c0181t0006 a0055c0108t0002 a0075c0151t0002 a0117c0121t0002	a0018c0017t0002g0041 a0018c0017t0002g0317 a0035c0180t0002g0171 others(4): Show a0018c0017t0002g0041 a0018c0017t0002g0317 a0035c0180t0002g0171 a0035c0181t0006g0221 a0055c0108t0002g0289 a0075c0151t0002g0137 a0117c0121t0002g0075	8	418	0.0191	-3201	c.119 others(11): Show c.11925_15125del	p.Val others(15): Show p.Val3976_Arg5042del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	15200/16005	11925/15267	3975/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143858159	CGGTAGGC others(6389): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGTGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCC TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG AGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAG CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC GCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC TGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCAC CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG GCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACG GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG CCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC GGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAG CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	419	0.0024	-6396	c.869 others(10): Show c.8699_15094del	p.Gln others(15): Show p.Gln2900_Tyr5031del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	15169/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143858534	CGGCCGGG others(1592): Show CGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC TCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTC TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAG CAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCC ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGC GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTC ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG02145.hp2 NA18972.hp1 others(1): Show HG00639.hp1 HG02145.hp2 NA18972.hp1 NA19240.hp1	a0001 a0022 a0047 a0001 a0022 a0047	a0001c0001 a0022c0041 a0047c0140 a0001c0001 a0022c0041 a0047c0140	a0001c0001t0001 a0022c0041t0002 a0022c0041t0007 others(1): Show a0001c0001t0001 a0022c0041t0002 a0022c0041t0007 a0047c0140t0003	a0001c0001t0001g0002 a0022c0041t0002g0076 a0022c0041t0007g0077 others(1): Show a0001c0001t0001g0002 a0022c0041t0002g0076 a0022c0041t0007g0077 a0047c0140t0003g0079	4	422	0.0095	-1599	c.131 others(11): Show c.13121_14719del	p.His others(15): Show p.His4374_Gly4906del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14794/16005	13121/15267	4374/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859323	CCGGCCT CCGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(107): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0022 a0023 a0025 a0026 a0029 a0030 a0032 a0033 a0034 a0036 a0037 a0038 a0039 a0040 a0042 a0044 a0046 a0047 a0048 a0052 a0053 a0057 a0060 a0061 a0062 a0063 a0064 a0065 a0067 a0068 a0069 a0070 a0072 a0073 a0076 a0077 a0081 a0084 a0086 a0087 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0099 a0101 a0102 a0104 a0106 a0108 a0111 a0112 a0116 a0118 a0120 a0121 a0122 a0123 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0134 a0136 a0137 a0139 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0150 a0151 a0153 a0154 a0155 a0156 a0157 a0159 a0161 a0162 a0167 a0168 a0169 a0170 a0171	a0001c0001 a0001c0023 a0001c0054 others(140): Show a0001c0001 a0001c0023 a0001c0054 a0001c0161 a0003c0003 a0003c0006 a0003c0032 a0003c0084 a0003c0103 a0003c0109 a0003c0114 a0004c0005 a0004c0015 a0004c0089 a0004c0090 a0004c0092 a0004c0093 a0004c0115 a0005c0007 a0005c0046 a0006c0009 a0006c0085 a0006c0087 a0006c0106 a0009c0097 a0010c0020 a0010c0137 a0010c0141 a0010c0146 a0011c0028 a0011c0044 a0011c0060 a0012c0011 a0012c0166 a0013c0056 a0013c0191 a0013c0192 a0014c0013 a0015c0012 a0016c0016 a0022c0120 a0023c0036 a0023c0082 a0025c0025 a0026c0035 a0026c0091 a0029c0019 a0030c0131 a0030c0132 a0030c0133 a0032c0014 a0033c0033 a0033c0117 a0034c0038 a0036c0039 a0037c0049 a0038c0050 a0039c0042 a0040c0051 a0042c0045 a0044c0040 a0046c0096 a0046c0098 a0047c0232 a0048c0030 a0052c0219 a0053c0145 a0057c0100 a0060c0101 a0061c0183 a0062c0144 a0063c0195 a0064c0076 a0065c0207 a0067c0065 a0068c0074 a0069c0067 a0070c0136 a0072c0190 a0073c0102 a0076c0086 a0077c0165 a0081c0073 a0084c0080 a0086c0229 a0087c0162 a0089c0182 a0090c0072 a0091c0173 a0092c0201 a0093c0221 a0094c0159 a0095c0130 a0096c0218 a0099c0224 a0101c0227 a0102c0225 a0104c0143 a0106c0189 a0108c0127 a0111c0198 a0112c0128 a0116c0123 a0118c0119 a0120c0079 a0121c0105 a0122c0211 a0123c0139 a0126c0116 a0127c0171 a0128c0235 a0129c0111 a0130c0153 a0131c0147 a0132c0081 a0134c0206 a0136c0222 a0137c0223 a0139c0233 a0141c0070 a0142c0068 a0143c0118 a0144c0077 a0145c0160 a0146c0069 a0147c0188 a0148c0184 a0149c0094 a0150c0228 a0151c0107 a0153c0216 a0154c0231 a0155c0129 a0156c0185 a0157c0209 a0159c0078 a0161c0154 a0162c0199 a0167c0152 a0168c0196 a0169c0110 a0170c0059 a0171c0150	a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 others(159): Show a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 a0001c0054t0001 a0001c0161t0001 a0003c0003t0002 a0003c0006t0001 a0003c0006t0002 a0003c0006t0006 a0003c0006t0007 a0003c0032t0002 a0003c0084t0025 a0003c0103t0002 a0003c0109t0006 a0003c0114t0002 a0004c0005t0002 a0004c0005t0007 a0004c0005t0024 a0004c0015t0002 a0004c0015t0012 a0004c0089t0006 a0004c0090t0002 a0004c0092t0002 a0004c0093t0002 a0004c0115t0002 a0005c0007t0003 a0005c0007t0023 a0005c0046t0003 a0006c0009t0002 a0006c0085t0002 a0006c0087t0002 a0006c0106t0007 a0009c0097t0001 a0010c0020t0002 a0010c0020t0007 a0010c0020t0014 a0010c0137t0014 a0010c0141t0014 a0010c0146t0002 a0011c0028t0001 a0011c0044t0001 a0011c0060t0001 a0012c0011t0002 a0012c0011t0006 a0012c0166t0002 a0013c0056t0002 a0013c0191t0002 a0013c0192t0006 a0014c0013t0002 a0015c0012t0002 a0015c0012t0006 a0015c0012t0012 a0016c0016t0002 a0022c0120t0003 a0023c0036t0002 a0023c0082t0002 a0025c0025t0003 a0025c0025t0013 a0026c0035t0002 a0026c0035t0007 a0026c0091t0002 a0029c0019t0001 a0030c0131t0009 a0030c0132t0009 a0030c0133t0009 a0032c0014t0002 a0032c0014t0007 a0033c0033t0002 a0033c0117t0002 a0034c0038t0002 a0036c0039t0002 a0036c0039t0007 a0037c0049t0002 a0037c0049t0006 a0038c0050t0002 a0039c0042t0004 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0044c0040t0002 a0046c0096t0002 a0046c0098t0002 a0047c0232t0003 a0048c0030t0006 a0052c0219t0003 a0053c0145t0013 a0057c0100t0013 a0060c0101t0003 a0061c0183t0002 a0062c0144t0007 a0063c0195t0006 a0064c0076t0002 a0065c0207t0013 a0067c0065t0009 a0068c0074t0002 a0069c0067t0002 a0070c0136t0009 a0072c0190t0002 a0073c0102t0002 a0076c0086t0007 a0077c0165t0003 a0081c0073t0002 a0084c0080t0007 a0086c0229t0009 a0087c0162t0002 a0089c0182t0002 a0090c0072t0002 a0091c0173t0021 a0092c0201t0001 a0093c0221t0004 a0094c0159t0005 a0095c0130t0009 a0096c0218t0005 a0099c0224t0004 a0101c0227t0002 a0102c0225t0003 a0104c0143t0002 a0106c0189t0022 a0108c0127t0009 a0111c0198t0004 a0112c0128t0001 a0116c0123t0004 a0118c0119t0001 a0120c0079t0002 a0121c0105t0002 a0122c0211t0003 a0123c0139t0007 a0126c0116t0002 a0127c0171t0002 a0128c0235t0002 a0129c0111t0003 a0130c0153t0003 a0131c0147t0002 a0132c0081t0002 a0134c0206t0003 a0136c0222t0004 a0137c0223t0003 a0139c0233t0001 a0141c0070t0006 a0142c0068t0002 a0143c0118t0002 a0144c0077t0002 a0145c0160t0002 a0146c0069t0002 a0147c0188t0006 a0148c0184t0002 a0149c0094t0005 a0150c0228t0007 a0151c0107t0002 a0153c0216t0016 a0154c0231t0016 a0155c0129t0001 a0156c0185t0002 a0157c0209t0002 a0159c0078t0002 a0161c0154t0003 a0162c0199t0002 a0167c0152t0002 a0168c0196t0002 a0169c0110t0002 a0170c0059t0010 a0171c0150t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0100 others(183): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0100 a0001c0023t0001g0020 a0001c0023t0001g0123 a0001c0054t0001g0025 a0001c0161t0001g0162 a0003c0003t0002g0003 a0003c0003t0002g0336 a0003c0006t0001g0300 a0003c0006t0002g0089 a0003c0006t0002g0214 a0003c0006t0002g0307 a0003c0006t0006g0213 a0003c0006t0007g0316 a0003c0032t0002g0027 a0003c0084t0025g0204 a0003c0103t0002g0212 a0003c0109t0006g0233 a0003c0114t0002g0302 a0004c0005t0002g0036 a0004c0005t0002g0082 a0004c0005t0002g0193 a0004c0005t0002g0205 a0004c0005t0007g0206 a0004c0005t0024g0287 a0004c0015t0002g0097 a0004c0015t0002g0202 a0004c0015t0012g0201 a0004c0089t0006g0192 a0004c0090t0002g0293 a0004c0092t0002g0314 a0004c0093t0002g0207 a0004c0115t0002g0054 a0005c0007t0003g0009 a0005c0007t0003g0140 a0005c0007t0003g0331 a0005c0007t0023g0257 a0005c0046t0003g0019 a0006c0009t0002g0040 a0006c0009t0002g0105 a0006c0009t0002g0280 a0006c0085t0002g0259 a0006c0087t0002g0332 a0006c0106t0007g0306 a0009c0097t0001g0295 a0010c0020t0002g0134 a0010c0020t0007g0135 a0010c0020t0014g0051 a0010c0137t0014g0138 a0010c0141t0014g0131 a0010c0146t0002g0133 a0011c0028t0001g0265 a0011c0028t0001g0266 a0011c0044t0001g0271 a0011c0060t0001g0267 a0012c0011t0002g0158 a0012c0011t0002g0173 a0012c0011t0002g0322 a0012c0011t0006g0072 a0012c0166t0002g0165 a0013c0056t0002g0035 a0013c0191t0002g0149 a0013c0192t0006g0334 a0014c0013t0002g0179 a0014c0013t0002g0234 a0015c0012t0002g0023 a0015c0012t0006g0175 a0015c0012t0012g0174 a0016c0016t0002g0038 a0016c0016t0002g0098 a0022c0120t0003g0146 a0023c0036t0002g0283 a0023c0036t0002g0285 a0023c0082t0002g0203 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0026c0035t0002g0279 a0026c0035t0007g0104 a0026c0091t0002g0324 a0029c0019t0001g0006 a0030c0131t0009g0250 a0030c0132t0009g0251 a0030c0133t0009g0252 a0032c0014t0002g0044 a0032c0014t0007g0086 a0033c0033t0002g0292 a0033c0033t0002g0312 a0033c0117t0002g0339 a0034c0038t0002g0039 a0036c0039t0002g0308 a0036c0039t0007g0215 a0037c0049t0002g0219 a0037c0049t0006g0091 a0038c0050t0002g0014 a0039c0042t0004g0067 a0039c0042t0004g0071 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0042c0045t0001g0125 a0044c0040t0002g0028 a0046c0096t0002g0210 a0046c0098t0002g0088 a0047c0232t0003g0078 a0048c0030t0006g0084 a0048c0030t0006g0277 a0052c0219t0003g0187 a0053c0145t0013g0132 a0057c0100t0013g0296 a0060c0101t0003g0297 a0061c0183t0002g0157 a0062c0144t0007g0333 a0063c0195t0006g0235 a0064c0076t0002g0238 a0065c0207t0013g0328 a0067c0065t0009g0274 a0068c0074t0002g0196 a0069c0067t0002g0194 a0070c0136t0009g0253 a0072c0190t0002g0330 a0073c0102t0002g0211 a0076c0086t0007g0260 a0077c0165t0003g0156 a0081c0073t0002g0195 a0084c0080t0007g0199 a0086c0229t0009g0240 a0087c0162t0002g0326 a0089c0182t0002g0321 a0090c0072t0002g0338 a0091c0173t0021g0061 a0092c0201t0001g0224 a0093c0221t0004g0262 a0094c0159t0005g0243 a0095c0130t0009g0249 a0096c0218t0005g0248 a0099c0224t0004g0115 a0101c0227t0002g0141 a0102c0225t0003g0116 a0104c0143t0002g0329 a0106c0189t0022g0048 a0108c0127t0009g0239 a0111c0198t0004g0058 a0112c0128t0001g0241 a0116c0123t0004g0264 a0118c0119t0001g0066 a0120c0079t0002g0096 a0121c0105t0002g0327 a0122c0211t0003g0182 a0123c0139t0007g0151 a0126c0116t0002g0046 a0127c0171t0002g0309 a0128c0235t0002g0281 a0129c0111t0003g0301 a0130c0153t0003g0050 a0131c0147t0002g0136 a0132c0081t0002g0200 a0134c0206t0003g0246 a0136c0222t0004g0113 a0137c0223t0003g0114 a0139c0233t0001g0152 a0141c0070t0006g0083 a0142c0068t0002g0064 a0143c0118t0002g0130 a0144c0077t0002g0291 a0145c0160t0002g0161 a0146c0069t0002g0311 a0147c0188t0006g0177 a0148c0184t0002g0222 a0149c0094t0005g0154 a0150c0228t0007g0286 a0151c0107t0002g0299 a0153c0216t0016g0236 a0154c0231t0016g0142 a0155c0129t0001g0242 a0156c0185t0002g0172 a0157c0209t0002g0227 a0159c0078t0002g0085 a0161c0154t0003g0080 a0162c0199t0002g0282 a0167c0152t0002g0143 a0168c0196t0002g0106 a0169c0110t0002g0090 a0170c0059t0010g0147 a0171c0150t0003g0258	209	422	0.4953	-6	c.139 others(17): Show c.13925_13930delAGGCCG	p.Glu others(15): Show p.Glu4642_Ala4643del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14005/16005	13925/15267	4642/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859329	TCGGCCTC others(1595): Show TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC TCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 NA18956.hp1 NA18975.hp1 others(2): Show HG00558.hp1 NA18956.hp1 NA18975.hp1 NA19007.hp1 NA19064.hp2	a0001 a0054 a0001 a0054	a0001c0001 a0054c0202 a0001c0001 a0054c0202	a0001c0001t0001 a0001c0001t0005 a0054c0202t0001 a0001c0001t0001 a0001c0001t0005 a0054c0202t0001	a0001c0001t0001g0001 a0001c0001t0005g0029 a0054c0202t0001g0180 a0001c0001t0001g0001 a0001c0001t0005g0029 a0054c0202t0001g0180	5	410	0.0122	-1602	c.123 others(11): Show c.12323_13924del	p.Gly others(15): Show p.Gly4108_Ala4641del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13999/16005	12323/15267	4108/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859329	TCGGCCTC others(3197): Show TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCG GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG GCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20129.hp1 NA20129.hp1	a0165 a0165	a0165c0237 a0165c0237	a0165c0237t0001 a0165c0237t0001	a0165c0237t0001g0099 a0165c0237t0001g0099	1	406	0.0025	-3204	c.107 others(11): Show c.10721_13924del	p.Gly others(15): Show p.Gly3574_Ala4641del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13999/16005	10721/15267	3574/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859400	CTCCACGG others(4790): Show CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC TCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA GTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG CTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT CCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCC TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTG GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT CGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGC CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG CTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG GCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG CCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCC TGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19064.hp1 NA19030.hp1 NA19064.hp1	a0046 a0153 a0046 a0153	a0046c0098 a0153c0216 a0046c0098 a0153c0216	a0046c0098t0002 a0153c0216t0016 a0046c0098t0002 a0153c0216t0016	a0046c0098t0002g0088 a0153c0216t0016g0236 a0046c0098t0002g0088 a0153c0216t0016g0236	2	420	0.0048	-4797	c.905 others(10): Show c.9057_13853del	p.Glu others(15): Show p.Glu3020_Glu4618del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13928/16005	9057/15267	3019/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860133	TGGCCGGG others(1595): Show TGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCC TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT GGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp1 HG00733.hp2 HG02027.hp2 others(9): Show HG00544.hp1 HG00733.hp2 HG02027.hp2 HG02723.hp1 NA18612.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18973.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1	a0001 a0002 a0019 others(2): Show a0001 a0002 a0019 a0031 a0103	a0001c0001 a0001c0010 a0002c0002 others(4): Show a0001c0001 a0001c0010 a0002c0002 a0002c0193 a0019c0026 a0031c0194 a0103c0122	a0001c0001t0015 a0001c0010t0008 a0001c0010t0015 others(6): Show a0001c0001t0015 a0001c0010t0008 a0001c0010t0015 a0002c0002t0008 a0002c0002t0011 a0002c0193t0001 a0019c0026t0011 a0031c0194t0008 a0103c0122t0001	a0001c0001t0015g0343 a0001c0010t0008g0122 a0001c0010t0015g0094 others(7): Show a0001c0001t0015g0343 a0001c0010t0008g0122 a0001c0010t0015g0094 a0002c0002t0008g0181 a0002c0002t0011g0033 a0002c0193t0001g0261 a0019c0026t0011g0011 a0019c0026t0011g0189 a0031c0194t0008g0178 a0103c0122t0001g0263	12	210	0.0571	-1602	c.115 others(11): Show c.11519_13120del	p.Arg others(15): Show p.Arg3840_Gly4373del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13195/16005	11519/15267	3840/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143861360	CGGTAGGC others(3188): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA CACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 NA19030.hp2 HG00140.hp2 NA19030.hp2	a0050 a0154 a0050 a0154	a0050c0075 a0154c0231 a0050c0075 a0154c0231	a0050c0075t0001 a0154c0231t0016 a0050c0075t0001 a0154c0231t0016	a0050c0075t0001g0197 a0154c0231t0016g0142 a0050c0075t0001g0197 a0154c0231t0016g0142	2	412	0.0049	-3195	c.869 others(10): Show c.8699_11893del	p.Gln others(15): Show p.Gln2900_Tyr3964del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11968/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862962	CGGTAGGC others(1586): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00738.hp1 HG00741.hp1 others(27): Show HG00099.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG02074.hp1 HG02080.hp1 HG02293.hp1 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp2 NA18954.hp2 NA18977.hp2 NA18983.hp2 NA18991.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19089.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0011 a0012 a0013 a0015 a0023 a0036 a0061 a0062 a0085 a0131	a0001c0004 a0002c0002 a0002c0205 others(17): Show a0001c0004 a0002c0002 a0002c0205 a0003c0003 a0003c0006 a0004c0005 a0011c0028 a0011c0060 a0012c0011 a0013c0056 a0013c0191 a0013c0192 a0015c0012 a0023c0036 a0023c0082 a0036c0039 a0061c0183 a0062c0144 a0085c0168 a0131c0147	a0001c0004t0001 a0002c0002t0001 a0002c0205t0001 others(21): Show a0001c0004t0001 a0002c0002t0001 a0002c0205t0001 a0003c0003t0002 a0003c0006t0001 a0003c0006t0002 a0003c0006t0006 a0004c0005t0002 a0011c0028t0001 a0011c0060t0001 a0012c0011t0002 a0013c0056t0002 a0013c0191t0002 a0013c0192t0006 a0015c0012t0002 a0015c0012t0006 a0015c0012t0012 a0023c0036t0002 a0023c0082t0002 a0036c0039t0007 a0061c0183t0002 a0062c0144t0007 a0085c0168t0005 a0131c0147t0002	a0001c0004t0001g0022 a0002c0002t0001g0034 a0002c0205t0001g0063 others(23): Show a0001c0004t0001g0022 a0002c0002t0001g0034 a0002c0205t0001g0063 a0003c0003t0002g0003 a0003c0006t0001g0300 a0003c0006t0002g0089 a0003c0006t0002g0214 a0003c0006t0006g0213 a0004c0005t0002g0036 a0011c0028t0001g0265 a0011c0028t0001g0266 a0011c0060t0001g0267 a0012c0011t0002g0158 a0013c0056t0002g0035 a0013c0191t0002g0149 a0013c0192t0006g0334 a0015c0012t0002g0023 a0015c0012t0006g0175 a0015c0012t0012g0174 a0023c0036t0002g0283 a0023c0082t0002g0203 a0036c0039t0007g0215 a0061c0183t0002g0157 a0062c0144t0007g0333 a0085c0168t0005g0166 a0131c0147t0002g0136	30	417	0.0719	-1593	c.869 others(10): Show c.8699_10291del	p.Gln others(15): Show p.Gln2900_Tyr3430del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	10366/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143864144	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02257.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02922.hp2 HG02976.hp2 NA18997.hp1	a0001 a0019 a0078 a0001 a0019 a0078	a0001c0001 a0019c0026 a0078c0230 a0001c0001 a0019c0026 a0078c0230	a0001c0001t0001 a0001c0001t0004 a0019c0026t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0019c0026t0011 a0078c0230t0026	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0004g0021 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0004g0021 a0019c0026t0011g0011 a0078c0230t0026g0275	5	419	0.0119	-6	c.910 others(15): Show c.9104_9109delAGGCCC	p.Gln others(15): Show p.Gln3035_Ala3036del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9184/16005	9104/15267	3035/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143864197	TTCCACGG others(1601): Show TTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTC GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA GCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCAC ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG CCCAGCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG06807.hp1 HG00639.hp2 HG06807.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0001 a0008c0008t0001 a0002c0002t0001 a0008c0008t0001	a0002c0002t0001g0225 a0008c0008t0001g0026 a0002c0002t0001g0225 a0008c0008t0001g0026	2	244	0.0082	-1608	c.744 others(9): Show c.7449_9056del	p.Glu others(15): Show p.Glu2484_Glu3019del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9131/16005	7449/15267	2483/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865752	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(17): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02717.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA18972.hp1 NA18974.hp1 NA19030.hp1 NA19058.hp1 NA19084.hp2 NA19240.hp1	a0022 a0025 a0047 others(12): Show a0022 a0025 a0047 a0052 a0053 a0060 a0065 a0078 a0086 a0109 a0117 a0137 a0153 a0157 a0161	a0022c0041 a0022c0120 a0025c0025 others(14): Show a0022c0041 a0022c0120 a0025c0025 a0047c0140 a0047c0232 a0052c0219 a0053c0145 a0060c0101 a0065c0207 a0078c0230 a0086c0229 a0109c0212 a0117c0121 a0137c0223 a0153c0216 a0157c0209 a0161c0154	a0022c0041t0002 a0022c0041t0007 a0022c0120t0003 others(16): Show a0022c0041t0002 a0022c0041t0007 a0022c0120t0003 a0025c0025t0003 a0025c0025t0013 a0047c0140t0003 a0047c0232t0003 a0052c0219t0003 a0053c0145t0013 a0060c0101t0003 a0065c0207t0013 a0078c0230t0026 a0086c0229t0009 a0109c0212t0003 a0117c0121t0002 a0137c0223t0003 a0153c0216t0016 a0157c0209t0002 a0161c0154t0003	a0022c0041t0002g0076 a0022c0041t0007g0077 a0022c0120t0003g0146 others(17): Show a0022c0041t0002g0076 a0022c0041t0007g0077 a0022c0120t0003g0146 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0047c0140t0003g0079 a0047c0232t0003g0078 a0052c0219t0003g0187 a0053c0145t0013g0132 a0060c0101t0003g0297 a0065c0207t0013g0328 a0078c0230t0026g0275 a0086c0229t0009g0240 a0109c0212t0003g0184 a0117c0121t0002g0075 a0137c0223t0003g0114 a0153c0216t0016g0236 a0157c0209t0002g0227 a0161c0154t0003g0080	20	422	0.0474	-6	c.749 others(15): Show c.7496_7501delAGGCCC	p.Gln others(15): Show p.Gln2499_Ala2500del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7576/16005	7496/15267	2499/5088		chr8	TogoVar
ERICH3_chr1_74563123_74678792	74572173	CCCT CCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00438.hp2 HG00621.hp2 others(51): Show HG00140.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG03239.hp1 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0003 a0011 a0020 a0003 a0011 a0020	a0003c0003 a0003c0037 a0011c0017 others(1): Show a0003c0003 a0003c0037 a0011c0017 a0020c0023	a0003c0003t0001 a0003c0003t0002 a0003c0037t0001 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0037t0001 a0011c0017t0001 a0020c0023t0001	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 others(47): Show a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0084 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0117 a0003c0003t0001g0126 a0003c0003t0001g0140 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0167 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0245 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0002g0191 a0003c0037t0001g0192 a0011c0017t0001g0047 a0011c0017t0001g0257 a0020c0023t0001g0162	54	288	0.1875	-3	c.353 others(12): Show c.3534_3536delAGG	p.Gly others(7): Show p.Gly1179del	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	14/15	3809/7201	3534/4593	1178/1530		chr1	TogoVar
ERICH6B_chr13_45536294_45620739	45596584	CCCAGATA others(11): Show CCCAGATACTCTTCCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(71): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18969.hp1 NA18971.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0002 a0023 a0027 a0002 a0023 a0027	a0002c0002 a0002c0009 a0002c0017 others(5): Show a0002c0002 a0002c0009 a0002c0017 a0002c0021 a0002c0043 a0002c0044 a0023c0046 a0027c0045	a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0017t0001 a0002c0021t0001 a0002c0043t0001 a0002c0044t0002 a0023c0046t0002 a0027c0045t0001	a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 others(66): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0166 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0229 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0287 a0002c0002t0001g0296 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0009t0001g0106 a0002c0009t0001g0136 a0002c0009t0001g0141 a0002c0009t0001g0145 a0002c0009t0001g0167 a0002c0009t0001g0168 a0002c0009t0001g0256 a0002c0017t0001g0107 a0002c0017t0001g0108 a0002c0017t0001g0154 a0002c0021t0001g0013 a0002c0043t0001g0151 a0002c0044t0002g0220 a0023c0046t0002g0213 a0027c0045t0001g0128	74	324	0.2284	-18	c.404 others(25): Show c.404_421delAGGAGGAAGAGTATCTGG	p.Glu others(13): Show p.Glu135_Leu140del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	586/2424	404/2091	135/696		chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45596589	ATACTCTT others(29): Show ATACTCTTCCTCCTCCAGATGCTCTTCCTTCCCCAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00438.hp2 HG00423.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0284 a0004c0004t0001g0285	2	324	0.0062	-36	c.381 others(43): Show c.381_416delCCTGGGGAAGGAAGAGCATCTGGAGGAGGAAGAGTA	p.Leu others(13): Show p.Leu128_Tyr139del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	581/2424	381/2091	127/696		chr13	TogoVar
ERICH6_chr3_150654885_150708920	150703740	CTCCTCCT others(14): Show CTCCTCCTCCTCCTCCACCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0009 a0009	a0009c0035 a0009c0036 a0009c0035 a0009c0036	a0009c0035t0001 a0009c0036t0001 a0009c0035t0001 a0009c0036t0001	a0009c0035t0001g0307 a0009c0036t0001g0306 a0009c0035t0001g0307 a0009c0036t0001g0306	2	212	0.0094	-21	c.138 others(28): Show c.138_158delAGAGGTGGAGGAGGAGGAGGA	p.Glu others(11): Show p.Glu47_Glu53del	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	180/2021	138/1992	46/663		chr3	TogoVar
ERICH6_chr3_150654885_150708920	150703803	TTCCTCCT others(5): Show TTCCTCCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18957.hp2 NA18957.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0014 a0015c0019t0001g0014	1	345	0.0029	-12	c.84_ others(17): Show c.84_95delGGAGGAGGAGGA	p.Glu others(11): Show p.Glu29_Glu32del	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	117/2021	84/1992	28/663		chr3	TogoVar
ESX1_chrX_104245038_104259933	104250409	GGCGCCAT others(20): Show GGCGCCATGGGCGGCCCGGGTGGCACAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01943.hp1 HG01943.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0039 a0013c0019t0001g0039	1	196	0.0051	-27	c.101 others(36): Show c.1013_1039delGTGTGCCACCCGGGCCGCCCATGGCGC	p.Arg others(13): Show p.Arg338_Ala346del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1123/1495	1013/1221	338/406		chrX	TogoVar
ESX1_chrX_104245038_104259933	104250463	CGCGCCAT others(20): Show CGCGCCATGGGCGGCCCGGGTGGCACAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02004.hp2 HG02683.hp1 HG03490.hp1 others(1): Show HG02004.hp2 HG02683.hp1 HG03490.hp1 NA20300.hp2	a0010 a0015 a0010 a0015	a0010c0011 a0015c0025 a0010c0011 a0015c0025	a0010c0011t0001 a0015c0025t0001 a0010c0011t0001 a0015c0025t0001	a0010c0011t0001g0017 a0015c0025t0001g0041 a0010c0011t0001g0017 a0015c0025t0001g0041	4	309	0.0129	-27	c.959 others(34): Show c.959_985delCTGTGCCACCCGGGCCGCCCATGGCGC	p.Pro others(13): Show p.Pro320_Ala328del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1069/1495	959/1221	320/406		chrX	TogoVar
EVC_chr4_5706201_5819305	5741743	CTCCTTGA others(20): Show CTCCTTGACCTTCTTCCTAAAAAGAAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0050 a0050	a0050c0046 a0050c0046	a0050c0046t0001 a0050c0046t0001	a0050c0046t0001g0034 a0050c0046t0001g0034	1	368	0.0027	-27	c.731 others(34): Show c.731_757delTCCTTGACCTTCTTCCTAAAAAGAAGT	p.Leu others(19): Show p.Leu244_Ser253delinsPro	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	6/21	911/6427	731/2979	244/992		chr4	TogoVar
EVX2_chr2_176072472_176088962	176080281	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18940.hp1 NA18977.hp2 NA18990.hp1 others(1): Show NA18940.hp1 NA18977.hp2 NA18990.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0017	4	428	0.0093	-3	c.125 others(12): Show c.1254_1256delCGG	p.Gly others(6): Show p.Gly419del	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding	3/3	1442/4252	1254/1431	418/476		chr2	TogoVar
F8A3_chrX_155451914_155463620	155458169	GAGGGCGG others(50): Show GAGGGCGGCGGCGGCGGCCGGCTGGCCCAGCTCGAGGTGCAGACGCACCG CGGCGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	270	0.0037	-57	c.375 others(64): Show c.375_431delGGGCGCCGCGGTGCGTCTGCACCTCGAGCTGGGCCAGC CGGCCGCCGCCGCCGCCCT	p.Gly others(13): Show p.Gly126_Leu144del	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding	1/1	451/1707	375/1116	125/371		chrX	TogoVar
FADS6_chr17_74872302_74898633	74893497	CGGTTCCA others(11): Show CGGTTCCATGGGCTCCGTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp1 HG03516.hp1 HG03669.hp1 others(6): Show HG01993.hp1 HG03516.hp1 HG03669.hp1 NA18906.hp1 NA18962.hp1 NA18965.hp1 NA19007.hp1 NA19077.hp2 NA19088.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0002 a0005c0006t0004 a0005c0006t0001 a0005c0006t0002 a0005c0006t0004	a0005c0006t0001g0083 a0005c0006t0001g0084 a0005c0006t0001g0085 others(6): Show a0005c0006t0001g0083 a0005c0006t0001g0084 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0001g0087 a0005c0006t0002g0089 a0005c0006t0002g0090 a0005c0006t0002g0091 a0005c0006t0004g0088	9	302	0.0298	-18	c.81_ others(23): Show c.81_98delTACGGAGCCCATGGAACC	p.Thr others(11): Show p.Thr28_Pro33del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	81/1107	27/368		chr17	TogoVar
FADS6_chr17_74872302_74898633	74893497	CGGTTCCA others(29): Show CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG04199.hp1 HG00639.hp1 HG04199.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0002 a0008c0013t0001 a0008c0013t0002	a0008c0013t0001g0080 a0008c0013t0002g0081 a0008c0013t0001g0080 a0008c0013t0002g0081	2	295	0.0068	-36	c.63_ others(41): Show c.63_98delTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC	p.Thr others(11): Show p.Thr22_Pro33del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	63/1107	21/368		chr17	TogoVar
FADS6_chr17_74872302_74898633	74893524	GGGCTCCG others(47): Show GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTT CCATC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(47): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG06807.hp1 NA18747.hp1 NA18946.hp2 NA18970.hp1 NA18991.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19085.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0012 others(3): Show a0003c0003 a0003c0005 a0003c0012 a0003c0014 a0003c0015 a0003c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0006 a0003c0005t0017 a0003c0012t0010 a0003c0014t0001 a0003c0015t0004 a0003c0016t0007	a0003c0003t0001g0003 a0003c0003t0001g0056 a0003c0003t0001g0058 others(31): Show a0003c0003t0001g0003 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0072 a0003c0003t0001g0075 a0003c0003t0002g0023 a0003c0003t0002g0073 a0003c0003t0003g0055 a0003c0005t0001g0049 a0003c0005t0001g0064 a0003c0005t0001g0069 a0003c0005t0001g0071 a0003c0005t0001g0074 a0003c0005t0001g0076 a0003c0005t0001g0077 a0003c0005t0002g0012 a0003c0005t0002g0051 a0003c0005t0002g0054 a0003c0005t0003g0070 a0003c0005t0003g0078 a0003c0005t0006g0053 a0003c0005t0017g0052 a0003c0012t0010g0057 a0003c0012t0010g0065 a0003c0014t0001g0061 a0003c0015t0004g0050 a0003c0016t0007g0079	50	438	0.1142	-54	c.18_ others(59): Show c.18_71delGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATG GAACCTACGGAGCC	p.Met others(10): Show p.Met7_Pro24del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	109/2174	18/1107	6/368		chr17	TogoVar
FAIM2_chr12_49861896_49908900	49897549	GTCACCAG others(26): Show GTCACCAGCAGCTGAATCAGCAGGATGGTGTAGA	G G	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0227 a0003c0004t0001g0227	1	434	0.0023	-33	c.317 others(40): Show c.317_349delTCTACACCATCCTGCTGATTCAGCTGCTGGTGA	p.Val others(19): Show p.Val106_Thr117delinsAla	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	4/12	457/4667	317/951	106/316		chr12	TogoVar
FAM174B_chr15_92612448_92660775	92655448	TTGGAGC TTGGAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 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 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 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 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.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 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 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.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 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.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 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.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 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0003c0004 a0004c0005 a0005c0012 a0006c0007 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0003t0002 a0001c0006t0002 a0001c0006t0024 a0001c0008t0001 a0001c0009t0005 a0001c0010t0012 a0003c0004t0004 a0003c0004t0016 a0003c0004t0038 a0004c0005t0001 a0004c0005t0041 a0005c0012t0003 a0006c0007t0001 a0007c0011t0025	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 others(371): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0116 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0166 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0291 a0001c0001t0002g0304 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0003g0002 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0105 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0156 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0325 a0001c0001t0003g0327 a0001c0001t0003g0334 a0001c0001t0004g0048 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0103 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0122 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0171 a0001c0001t0004g0188 a0001c0001t0004g0208 a0001c0001t0004g0239 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0273 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0323 a0001c0001t0004g0340 a0001c0001t0004g0347 a0001c0001t0005g0056 a0001c0001t0005g0059 a0001c0001t0005g0068 a0001c0001t0005g0073 a0001c0001t0005g0120 a0001c0001t0005g0142 a0001c0001t0005g0174 a0001c0001t0005g0176 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0221 a0001c0001t0005g0232 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0251 a0001c0001t0005g0265 a0001c0001t0005g0314 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0360 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0062 a0001c0001t0006g0078 a0001c0001t0006g0148 a0001c0001t0006g0160 a0001c0001t0006g0190 a0001c0001t0006g0213 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0272 a0001c0001t0006g0277 a0001c0001t0006g0305 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0047 a0001c0001t0007g0065 a0001c0001t0007g0100 a0001c0001t0007g0117 a0001c0001t0007g0129 a0001c0001t0007g0145 a0001c0001t0007g0152 a0001c0001t0007g0159 a0001c0001t0007g0179 a0001c0001t0007g0203 a0001c0001t0007g0215 a0001c0001t0007g0254 a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0007g0263 a0001c0001t0007g0275 a0001c0001t0007g0348 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0050 a0001c0001t0008g0076 a0001c0001t0008g0137 a0001c0001t0008g0184 a0001c0001t0008g0186 a0001c0001t0008g0198 a0001c0001t0008g0235 a0001c0001t0008g0287 a0001c0001t0008g0311 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0034 a0001c0001t0009g0106 a0001c0001t0009g0112 a0001c0001t0009g0139 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0009g0338 a0001c0001t0010g0015 a0001c0001t0010g0038 a0001c0001t0010g0091 a0001c0001t0010g0196 a0001c0001t0010g0333 a0001c0001t0010g0339 a0001c0001t0010g0349 a0001c0001t0010g0362 a0001c0001t0011g0024 a0001c0001t0011g0029 a0001c0001t0011g0031 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0011g0046 a0001c0001t0011g0123 a0001c0001t0011g0135 a0001c0001t0012g0085 a0001c0001t0012g0104 a0001c0001t0012g0168 a0001c0001t0012g0289 a0001c0001t0012g0343 a0001c0001t0012g0350 a0001c0001t0013g0055 a0001c0001t0013g0099 a0001c0001t0013g0149 a0001c0001t0013g0220 a0001c0001t0013g0264 a0001c0001t0013g0266 a0001c0001t0013g0297 a0001c0001t0014g0070 a0001c0001t0014g0092 a0001c0001t0014g0163 a0001c0001t0014g0240 a0001c0001t0014g0241 a0001c0001t0014g0243 a0001c0001t0015g0107 a0001c0001t0015g0109 a0001c0001t0015g0128 a0001c0001t0015g0197 a0001c0001t0016g0101 a0001c0001t0016g0341 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0001t0017g0007 a0001c0001t0017g0383 a0001c0001t0017g0384 a0001c0001t0017g0386 a0001c0001t0018g0054 a0001c0001t0018g0066 a0001c0001t0018g0154 a0001c0001t0018g0262 a0001c0001t0019g0041 a0001c0001t0019g0228 a0001c0001t0019g0307 a0001c0001t0020g0110 a0001c0001t0020g0143 a0001c0001t0020g0345 a0001c0001t0021g0127 a0001c0001t0021g0192 a0001c0001t0021g0361 a0001c0001t0022g0061 a0001c0001t0022g0267 a0001c0001t0022g0322 a0001c0001t0023g0151 a0001c0001t0023g0202 a0001c0001t0023g0244 a0001c0001t0024g0037 a0001c0001t0024g0209 a0001c0001t0025g0234 a0001c0001t0025g0296 a0001c0001t0026g0118 a0001c0001t0026g0225 a0001c0001t0027g0328 a0001c0001t0027g0335 a0001c0001t0028g0337 a0001c0001t0028g0359 a0001c0001t0029g0222 a0001c0001t0029g0227 a0001c0001t0030g0165 a0001c0001t0030g0173 a0001c0001t0031g0130 a0001c0001t0032g0033 a0001c0001t0033g0028 a0001c0001t0033g0336 a0001c0001t0034g0090 a0001c0001t0034g0342 a0001c0001t0035g0027 a0001c0001t0035g0030 a0001c0001t0036g0292 a0001c0001t0036g0293 a0001c0001t0037g0381 a0001c0001t0037g0382 a0001c0001t0039g0281 a0001c0001t0040g0178 a0001c0001t0042g0191 a0001c0001t0043g0108 a0001c0001t0044g0302 a0001c0001t0045g0126 a0001c0001t0046g0364 a0001c0001t0047g0111 a0001c0001t0048g0043 a0001c0001t0049g0363 a0001c0001t0050g0026 a0001c0001t0051g0324 a0001c0001t0052g0057 a0001c0001t0053g0138 a0001c0001t0054g0169 a0001c0001t0055g0125 a0001c0001t0056g0207 a0001c0001t0057g0261 a0001c0001t0058g0329 a0001c0001t0059g0141 a0001c0001t0060g0132 a0001c0001t0061g0136 a0001c0001t0062g0035 a0001c0001t0063g0385 a0001c0001t0064g0387 a0001c0003t0002g0001 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0006t0002g0013 a0001c0006t0024g0102 a0001c0008t0001g0011 a0001c0009t0005g0358 a0001c0010t0012g0082 a0003c0004t0004g0368 a0003c0004t0016g0366 a0003c0004t0038g0367 a0004c0005t0001g0010 a0004c0005t0041g0009 a0005c0012t0003g0380 a0006c0007t0001g0008 a0007c0011t0025g0365	380	392	0.9694	-6	c.206 others(13): Show c.206_211delGCTCCA	p.Ser others(11): Show p.Ser69_Ser70del	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/3	327/2604	206/480	69/159		chr15	TogoVar
FAM186A_chr12_50322309_50401609	50352677	GATCCCCA others(29): Show GATCCCCAGTTCCTGAGCCTGCTGAGTGGTGAGAGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19000.hp2 NA19084.hp1 NA19000.hp2 NA19084.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0215 a0013c0015t0001g0217 a0013c0015t0001g0215 a0013c0015t0001g0217	2	330	0.0061	-36	c.411 others(45): Show c.4119_4154delGCCTCTCACCACTCAGCAGGCTCAGGAACTGGGGAT	p.Met others(15): Show p.Met1373_Gly1384del	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/8	4279/7255	4119/7056	1373/2351		chr12	TogoVar
FAM83D_chr20_38921417_38958106	38926679	CGCG CGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp1 HG02145.hp2 HG02559.hp1 others(6): Show HG01361.hp1 HG02145.hp2 HG02559.hp1 HG02622.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp1 NA19030.hp1 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0004 a0003c0008t0002 a0003c0005t0004 a0003c0008t0002	a0003c0005t0004g0021 a0003c0005t0004g0103 a0003c0005t0004g0104 others(5): Show a0003c0005t0004g0021 a0003c0005t0004g0103 a0003c0005t0004g0104 a0003c0005t0004g0129 a0003c0005t0004g0130 a0003c0008t0002g0016 a0003c0008t0002g0047 a0003c0008t0002g0048	9	330	0.0273	-3	c.255 others(10): Show c.255_257delGGC	p.Ala others(5): Show p.Ala86del	FAM83D	ENSG00000101447.15	transcript	ENST00000619850.2	protein_coding	1/4	281/2370	255/1758	85/585	INFO_REALIGN_3_PRIME	chr20	TogoVar
FAM8A1_chr6_17595302_17616715	17600553	GGCCCCGG others(11): Show GGCCCCGGGCCGGCCCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG03209.hp2 NA18522.hp1 HG01891.hp1 HG03209.hp2 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0018 a0003c0003t0001g0018	3	372	0.0081	-18	c.155 others(25): Show c.155_172delGGCCCACAGCCCCGGGCC	p.Arg others(11): Show p.Arg52_Gly57del	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding	1/5	263/4726	155/1242	52/413	INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM90A22_chr8_7566995_7580006	7572281	AGGCAAGG others(359): Show AGGCAAGGTCTGCTGTGCGGAGGCTGCCTGTCGACGCTGGGCACCTGGGC CGGTGTCCTCCTGCCCATCTGGGGCGACGTACTTGGTCCAAGTTCGGTTG CGGCTGGCGGAGGTTGGAGATTCTCCGGGGCCCCCAGCTCACCTCCCTGG ATGGCGCTTTCGGGGATCTGGAAGGGACCCAGTCTCGGTTTCTTGGGGAA GTTCAGGCAAGCCTGAATCGGAGCCTGGGCAGGTTTCTTGGCTCCTGGCC CGAAGCTGAGATTGGAGCCTAGGCCCAAGCTGTGTGTGGCGGCTGGCGGG CAGGGCTGTGGGGTCACCGCAGGACGTTTGTCTTGTGCCTGGGGTCTGGA GGCCTGGAGCAGGCCGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp1 NA18961.hp2 NA18974.hp1 others(1): Show HG01168.hp1 NA18961.hp2 NA18974.hp1 NA19057.hp1	a0012 a0029 a0033 a0012 a0029 a0033	a0012c0018 a0029c0022 a0033c0026 a0012c0018 a0029c0022 a0033c0026	a0012c0018t0001 a0029c0022t0001 a0033c0026t0001 a0012c0018t0001 a0029c0022t0001 a0033c0026t0001	a0012c0018t0001g0006 a0029c0022t0001g0018 a0033c0026t0001g0020 a0012c0018t0001g0006 a0029c0022t0001g0018 a0033c0026t0001g0020	4	88	0.0455	-366	c.743 others(8): Show c.743_1108del	p.His others(13): Show p.His248_Cys369del	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	4/4	1108/1395	743/1395	248/464		chr8	TogoVar
FAM98B_chr15_38449127_38492710	38484532	ATTATGGT others(11): Show ATTATGGTGGAAGAGGGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp1 HG03834.hp2 others(1): Show HG03491.hp1 HG03492.hp1 HG03834.hp2 NA19055.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0051 a0003c0005t0001g0213 a0003c0005t0001g0001 a0003c0005t0001g0051 a0003c0005t0001g0213	4	398	0.0101	-18	c.119 others(27): Show c.1194_1211delTTATGGTGGAAGAGGGGG	p.Tyr others(13): Show p.Tyr399_Gly404del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1229/4388	1194/1302	398/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM98B_chr15_38449127_38492710	38484551	TTATGGTG others(11): Show TTATGGTGGAAGAGGGGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02293.hp1 HG02293.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0162 a0008c0011t0003g0162	1	398	0.0025	-18	c.120 others(27): Show c.1209_1226delGGGCTATGGTGGAAGAGG	p.Gly others(13): Show p.Gly404_Gly409del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1244/4388	1209/1302	403/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM98B_chr15_38449127_38492710	38484605	AGGTGGTG others(2): Show AGGTGGTGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG00738.hp2 HG01169.hp1 others(28): Show HG00642.hp1 HG00738.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01433.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02818.hp2 HG02922.hp1 HG03669.hp1 HG03927.hp1 HG03942.hp2 NA18942.hp2 NA18945.hp1 NA18956.hp2 NA18965.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp1 NA19079.hp1 NA19090.hp1 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0007 a0008c0011 a0002c0002 a0002c0007 a0008c0011	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0024 a0002c0007t0003 a0008c0011t0003	a0002c0002t0002g0005 a0002c0002t0002g0111 a0002c0002t0002g0123 others(18): Show a0002c0002t0002g0005 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0132 a0002c0002t0002g0136 a0002c0002t0003g0002 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0140 a0002c0002t0003g0161 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0004g0092 a0002c0002t0024g0165 a0002c0007t0003g0232 a0008c0011t0003g0162	31	395	0.0785	-9	c.126 others(18): Show c.1269_1277delTGGTGGTGG	p.Gly others(13): Show p.Gly424_Gly426del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1304/4388	1269/1302	423/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM9A_chrX_8785795_8806383	8795139	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp1 NA18998.hp1 NA19068.hp1 HG04228.hp1 NA18998.hp1 NA19068.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0051 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0051	3	301	0.0100	-3	c.767 others(10): Show c.767_769delGAG	p.Gly others(6): Show p.Gly256del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	880/1519	767/999	256/332		chrX	TogoVar
FAM9A_chrX_8785795_8806383	8795154	CCTT CCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp2 HG01256.hp1 HG01361.hp2 HG00741.hp2 HG01256.hp1 HG01361.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	3	301	0.0100	-3	c.752 others(10): Show c.752_754delAAG	p.Glu others(6): Show p.Glu251del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	865/1519	752/999	251/332		chrX	TogoVar
FAM9A_chrX_8785795_8806383	8795268	GCTGCTGC others(11): Show GCTGCTGCTGCTGCGGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02074.hp1 HG02165.hp2 HG02074.hp1 HG02165.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0023 a0005c0008t0001g0023	2	301	0.0066	-18	c.623 others(25): Show c.623_640delAAGCCGCAGCAGCAGCAG	p.Glu others(13): Show p.Glu208_Ala213del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	751/1519	623/999	208/332		chrX	TogoVar
FASTKD3_chr5_7854159_7874031	7867364	TATA TATA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01256.hp1 HG01517.hp2 others(2): Show HG00735.hp2 HG01256.hp1 HG01517.hp2 HG03239.hp1 NA19043.hp2	a0005 a0008 a0005 a0008	a0005c0005 a0008c0008 a0005c0005 a0008c0008	a0005c0005t0001 a0008c0008t0004 a0005c0005t0001 a0008c0008t0004	a0005c0005t0001g0016 a0008c0008t0004g0034 a0005c0005t0001g0016 a0008c0008t0004g0034	5	460	0.0109	-3	c.717 others(10): Show c.717_719delTAT	p.Ile others(6): Show p.Ile240del	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	2/7	885/2431	717/1989	239/662		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168529585	AGGC AGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02723.hp2 HG02976.hp2 others(2): Show HG02145.hp2 HG02723.hp2 HG02976.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0002g0000 a0001c0001t0006g0000	5	458	0.0109	-3	c.95_ others(8): Show c.95_97delGCG	p.Gly others(5): Show p.Gly32del	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding	1/1	295/1330	95/1005	32/334	INFO_REALIGN_3_PRIME	chr5	TogoVar
FBLN7_chr2_112133385_112193218	112175762	TAGA TAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG03041.hp2 NA18522.hp2 HG01884.hp2 HG03041.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0042 a0003c0003t0001g0148 a0003c0003t0001g0292 a0003c0003t0001g0042 a0003c0003t0001g0148 a0003c0003t0001g0292	3	344	0.0087	-3	c.458 others(10): Show c.458_460delAAG	p.Glu others(6): Show p.Glu153del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	4/8	729/2303	458/1320	153/439	INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO11_chr2_47801920_47911498	47905586	AGGCTGCT others(8): Show AGGCTGCTGCTGGGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG02523.hp1 HG02451.hp1 HG02523.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0306 a0004c0005t0002g0307 a0004c0005t0002g0306 a0004c0005t0002g0307	2	316	0.0063	-15	c.120 others(22): Show c.120_134delGCCCCAGCAGCAGCC	p.Pro others(11): Show p.Pro41_Pro45del	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/23	912/4760	120/2784	40/927		chr2	TogoVar
FBXO2_chr1_11643387_11659429	11650722	CGCG CGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02559.hp1 HG02647.hp1 others(8): Show HG01884.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0008 a0004c0004 a0006c0008	a0004c0004t0001 a0004c0004t0002 a0006c0008t0001 a0004c0004t0001 a0004c0004t0002 a0006c0008t0001	a0004c0004t0001g0037 a0004c0004t0001g0093 a0004c0004t0001g0125 others(7): Show a0004c0004t0001g0037 a0004c0004t0001g0093 a0004c0004t0001g0125 a0004c0004t0001g0136 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0002g0094 a0004c0004t0002g0172 a0004c0004t0002g0209 a0006c0008t0001g0089	11	263	0.0418	-3	c.132 others(10): Show c.132_134delCGC	p.Ala others(5): Show p.Ala45del	FBXO2	ENSG00000116661.11	transcript	ENST00000354287.5	protein_coding	2/6	223/1287	132/891	44/296		chr1	TogoVar
FBXO33_chr14_39392684_39437433	39432053	CGTCGCAG others(2): Show CGTCGCAGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01516.hp2 HG01517.hp1 HG02486.hp1 HG01516.hp2 HG01517.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0057 a0002c0006t0001g0205 a0002c0006t0001g0057 a0002c0006t0001g0205	3	388	0.0077	-9	c.101 others(16): Show c.101_109delAGCTGCGAC	p.Gln others(11): Show p.Gln34_Arg36del	FBXO33	ENSG00000165355.8	transcript	ENST00000298097.8	protein_coding	1/4	380/3771	101/1668	34/555		chr14	TogoVar
FBXO3_chr11_33735944_33779520	33742034	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18961.hp1 NA19011.hp1 NA19063.hp1 others(1): Show NA18961.hp1 NA19011.hp1 NA19063.hp1 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0036 a0003c0003t0002g0034 a0003c0003t0002g0036	4	380	0.0105	-3	c.128 others(12): Show c.1287_1289delGGA	p.Glu others(6): Show p.Glu430del	FBXO3	ENSG00000110429.14	transcript	ENST00000265651.8	protein_coding	11/11	1312/2403	1287/1416	429/471		chr11	TogoVar
FBXO41_chr2_73249690_73289478	73269448	GGCAGCGG others(11): Show GGCAGCGGCGGCGGCGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG01981.hp1 HG00280.hp2 HG01981.hp1	a0005 a0005	a0005c0010 a0005c0011 a0005c0010 a0005c0011	a0005c0010t0008 a0005c0011t0001 a0005c0010t0008 a0005c0011t0001	a0005c0010t0008g0196 a0005c0011t0001g0252 a0005c0010t0008g0196 a0005c0011t0001g0252	2	372	0.0054	-18	c.165 others(25): Show c.165_182delGGCCGCCGCCGCCGCTGC	p.Ala others(11): Show p.Ala56_Ala61del	FBXO41	ENSG00000163013.12	transcript	ENST00000520530.3	protein_coding	2/13	639/7377	165/2628	55/875		chr2	TogoVar

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