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
CYP11B1_chr8_142867357_142884825	142875767	G G	A A	stop_gained stop_gained	HIGH	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0064 a0010c0018t0002g0064	1	426	0.0023	0	c.106 others(4): Show c.1066C>T	p.Gln others(4): Show p.Gln356*	CYP11B1	ENSG00000160882.13	transcript	ENST00000292427.10	protein_coding	6/9	1078/3540	1066/1512	356/503		chr8	TogoVar
CYP2D6_chr22_42121499_42135810	42128945	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show HG00140.hp2 HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp2 HG02965.hp2 HG03490.hp2 HG03834.hp1 HG06807.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	25	416	0.0601	0	c.506 others(5): Show c.506-1G>A		CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding	3/8					chr22	TogoVar
CYP3A43_chr7_99823013_99871093	99836454	TA TA	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show HG01109.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0011 others(3): Show a0002c0002 a0002c0010 a0002c0011 a0002c0014 a0002c0015 a0002c0019	a0002c0002t0001 a0002c0010t0001 a0002c0011t0001 others(3): Show a0002c0002t0001 a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0002c0015t0001 a0002c0019t0001	a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(28): Show a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 a0002c0011t0001g0172 a0002c0014t0001g0173 a0002c0014t0001g0183 a0002c0015t0001g0039 a0002c0019t0001g0191	37	324	0.1142	-1	c.74d others(3): Show c.74delA	p.Tyr others(4): Show p.Tyr25fs	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	2/13	177/1707	74/1512	25/503		chr7	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0006c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0006c0017t0001	a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 others(13): Show a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 a0002c0011t0001g0172 a0002c0014t0001g0173 a0002c0014t0001g0183 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0175 a0003c0004t0001g0198 a0003c0004t0001g0199 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0005t0001g0005 a0003c0005t0001g0217 a0006c0017t0001g0207	28	324	0.0864	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
DBF4B_chr17_44703665_44757264	44708840	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG02145.hp2 HG02630.hp2 others(8): Show HG00558.hp2 HG02145.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 others(8): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284	11	286	0.0385	0	c.19+ others(4): Show c.19+1G>T		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	1/13					chr17	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000	268	454	0.5903	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0007c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0001t0078 a0001c0002t0001 a0001c0002t0024 a0001c0002t0028 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0094 a0001c0004t0118 a0001c0004t0123 a0001c0008t0098 a0001c0024t0027 a0002c0022t0008 a0003c0007t0009 a0007c0023t0113	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0020g0296 a0001c0001t0029g0289 a0001c0001t0031g0039 a0001c0001t0031g0152 a0001c0001t0032g0042 a0001c0001t0032g0055 a0001c0001t0056g0046 a0001c0001t0058g0153 a0001c0001t0059g0314 a0001c0001t0060g0041 a0001c0001t0061g0284 a0001c0001t0062g0096 a0001c0001t0063g0154 a0001c0001t0064g0095 a0001c0001t0077g0057 a0001c0001t0078g0165 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0002t0028g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0025g0139 a0001c0003t0025g0186 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0094g0212 a0001c0004t0118g0013 a0001c0004t0123g0061 a0001c0008t0098g0195 a0001c0024t0027g0033 a0002c0022t0008g0161 a0003c0007t0009g0248 a0007c0023t0113g0156	69	83	0.8313	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG02155.hp1 HG02922.hp1 others(8): Show HG00621.hp1 HG02155.hp1 HG02922.hp1 HG03492.hp1 HG06807.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp2 NA18979.hp2 NA18983.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0008 a0010c0021 a0001c0001 a0001c0008 a0010c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0052 a0001c0001t0089 a0001c0001t0100 a0001c0008t0026 a0010c0021t0030	a0001c0001t0001g0131 a0001c0001t0003g0066 a0001c0001t0003g0087 others(8): Show a0001c0001t0001g0131 a0001c0001t0003g0066 a0001c0001t0003g0087 a0001c0001t0004g0094 a0001c0001t0005g0224 a0001c0001t0017g0018 a0001c0001t0052g0078 a0001c0001t0089g0260 a0001c0001t0100g0315 a0001c0008t0026g0235 a0010c0021t0030g0265	11	25	0.4400	28	c.623 others(39): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS4_chr14_23948770_23974279	23967493	CTCTGGGA others(6779): Show CTCTGGGAGAAGCCCTGAGTCCTCTCTCCACCTGGGGGATTGCCTCCACC TCTGAGCATCCATGGAGACCAGGGACCATAACCAAAACCATGCTTTGTTA GTCCCCTTGAATAATGACACATGTTTACAAAACTCAGGTTGATGATCTAC AATCCAAATGAAAAGAATGAAGAGTTTTACTAAGCCCCAAACTCCCCTTG CCTAAGGAGTTACTTTCTTCCCCAGTGAGCTGGGTGAACTGTTCAAGCAC CTTTGTCGGGCTCCCTTTCCTCTAAGTTCCCTGCCTCTCTCTACCTTCTG GCTTCAAGGACAAATGCCAGTAATGCCTAACTCTGTACTCGTCCAGACAT CCCAAATCTTCCCAAAGCCATTCTGATGTGAGACATGAGCTGCAGGCCTG GTTCATAACTCATTAATAAGTGAGGGGATTGTCAACCTAGAGCACCAATG AATGATCTAGCCCATGTAGCTCAATACTGGATTCACATTAGAATCACCTG GGGAGCTTTTTAAACTGCAGGTGCTCAGGCCCCACCCACTCCCAGAGATT CTTTTTAATTGGTCCAAGGTAGGACTTGACCATCTGGGCTTTTGTTTTTC TTTGTCTTTTCTTTTCTTTTCTTTTTTGGTTTAAGCCTCTCAAATGATTG CAAGATACAAGTAGAATGGAGAAGCATTAATTCAGCCCTTCTAGGTTTGA GTTACTCACTCTGCCCACCTCTAGAGCATTCTATGGCAGGGAGATTAAAG TGTCTCCTAACTATGCAGTCACTGATAAAATAAGAATTAGCACATTCTCA CTAAATGAACCTGACTTTAAGGCACAAGTATAGATTCCTGAAAAAGTTCT AAGCTGAACCTGTACAAATGGAATCATTTTAAACACACCATTTACTGTCA CACAGACTCCCTGATACTTTAGTGTGTGCACATGTGAAACCATTTTTTTG AAGTATGAAATAATTGCTCACCATTTTATCTATATAACTTTGGATTTTGG TGTCCTGAGCTCTCTAAAAACCGGTGTGTTTCTATAGTATTTGAATATTA TGGGTAATAGTTTTGCAGAGTACAGTATGCTTATACTAAATTATAACAGC ATATCCTCGTGGTAACCCTATTTGATAGGCAGAAAGCTTGTACACTGACC CTGAAAAAGCCATCTGATAATTCTTGATTAAGCAAATTTAACTCCCTGTG TCCCAGGTGAGGGAGGCAGAACTGTTTGATTTTTACCTCCTTCCTTGCTT CCCTTATTCCCCAGGTTAGGCGAGCCAGAGGATTGTGCTGGCATCGTGTC TTTCCTGTGCTCTGAAGATGCCAGCTACATCACTGGGGAAACAGTGGTGG TGGGTGGAGGAACCCCGTCCCGCCTCTGAGGACCGGGAGACAGCCCACAG GCCAGAGTTGGGCTCTAGCTCCTGGTGCTGTTCCCGCATTCACCCACTGG CCTTTCCCACCTCTGCTCACCTTACTGTTCACCTCATCAAATCAGTTCTG CCCTGTGAAAAGATCCAGCCTTCCCTGCCGTCAAGGTGGCGTCTTACTCG GGATTTCTGCTGTTGTTGTGGCCTTGGGTAAAGGCCTCCCCTGAGAACAC AGGACAGGCCTGCTGACAAGGCTGAGTCTACCTTGGCAAAGACCAAGATA TTTTTTCCCGGGCCACTGGGGAATCTGAGGGGTGATGGGAGAGAAGGAAC CTGGAGTGGAAGGAGCAGAGTTGCAAATTAACAACTTGCAAATGAGGTGC AAATAAAATGCAGATGATTGCGCGGCTTTGAATCCAATTGACCTGTTCAT TTCTCAGTGTTGGGTGCTTAGCTGAGCAGAGAGCAGAAGTCTATTCAGGC TGGATCTCTGGATCCCCCAGCCCTCCTCCCTGTCTCCAGAACTTGAGCGT GATGTTCACGGGTGGAGGTGTCTGCAGAGCTGCCAGCTGGAAGGAAGGTG GCACGGGAACTCCCAGGACGCCACGGGAATCCCCGAGGCAGCGCGAGCCC GGAGAGAGTGGGGAAGGATGAACTCTCTAACACCTCCCCGCCCCTTGCCT CCCAGATCAGGCCAGGTCCTCTCCCCGCATGGCCCTACGACCCGAGTTCC CTCCCGAGTCAGCAAGTACAAGCTGGATGGGTCCTGAGCCGGTGGGGAAT AGAGAAAGGCCCTGCAAGGTACCCAGGCCCACAAACAAAAGCAATGGGTT CTGCCCACGGGCCCGAGGATTCAGTAGAAGGAAAGTGGGGACGCTGTCCC CCGCCCCAAAGGCACTGACACTGGGCGACACACGCTGAGCCTCTCACGCC GACGGGCCTCTCACGCCGGAGCCGGCAAGAAAGGTCGGCGCCAGCCCGCG GGCTCTCAGGAGGCTCGGCAGCGCGACGCGCATGCTCAGTCGGGCAGCTC TCCGGGCCGGCGTGGGAGCCCGCGCTCCAAGGCCCGGTGGGGGGAGGGGC GCTCACGCAACCGCCACTGTCTGGAGCGGGCTCGCCTCTGCGGCAGCCCT CACCGCCCGGGCTTTACTGAAGCGGAGTCTAGCATGTGCGGCTGCTCCAC AGCGGTGTGGGTGGCGGCGGCTCCTCTGCAGCAGCCTCGGCAGTAGGGGT CAGGGTGGCCAAGCCCACCGTGGAGCTCATCTGAGAGTTGTAAGGTACGG GACTGCCTCGGTCTTTGGGACGCCCCGTCTGGTAGCATCCCAGATCCAGC ACGTTCCTTCCGGCCCTGCACCCCGGCCCGGTGCCTCACACCCCGCTACC CCAAGCATCCAGACTCTAAGGCAGCCCCTGCATCTCAGTCCTGACATCGC TGTCCCTGGAGCATCCTCCGCTGGAGCTGGAGCTTGACAGGTAGGGTGGA GAGGGCGGTGGGGGGCGGGGGGCCGAAACTGCATCAGTTAACGGGGCCGT GGGGGAGGGAAGTCCTCCATTGCTAAGGCTTCAGTAGGCGTTCTATGATC ACAGTGTAAACAAAGCTGCAGGGAAGCTCTAACTGGGCGGAACCCACCGC AGCTCAGCAAGGCCTACTGCCTCTCCAGATTCCACCTCAGGGGCCAGGGC ATATCTGAACAAAAGGCAGCGGACAGCTTCTGCAGACTTCAGTGTCCTTG CCTGACATCTCTAAAGACAGCAGTGGTTCTCCCAGCACGGAGTTCGTGCT CCGATAACGGACAGACTGCCTCCCCGAGTGGGTCCCTGACCCCCATGTAG CTTGACTGAAAAACACCGACCAGTAGGGGCGGAGAGACACCTCATACAGG TGGGTGCCCCTGTGGAACAAAGCTTCCAGAAGAAGGATCAGGCAGCAATA TTTGCTGTTCTGCAGCCTCCTCTACTGATACCCAAGAAAATAAGGTCTGG AATGGACTTCCAGCAAACCCCCAAAGACCTGCAGCTGAGGGGCCTGTTAG AAGGAAAACTAACAAACAGAAAGGAATAGCATCAACATCAGCAAAGGACA GCATCAACATCAGAATAGCAAAGGACATCCACACTAAAACCCCATCCATA GGTCACCAACATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGAGAG AAACCAGAGCAGAAATGCTGAAACTTCCAGAAACCAGAACGTCTCTTCTC TTCCAAAGGAATACAAGTCCTCACCAGCAAGGGAACAAAACTGGATGGAG AATAAGTTTGATAACTTGACAGAAGTTAAGCTTCAGAAGGTCAGTAATAA CAAACTACTCCCAGCTAAAGGAACATGTTCTAACCCATTACAAGGAAGCT AAAAACCTTCAAAAAAAGGTTAAACGAATGGCTAACTAGAATGAAGAATG TAGAGAAGAGCTTAAATGACCTGATGGAGCTGATAACCACAGTACAAGAA CTTCATGAAGGATACACAAGCTTCAATAGCTGATTCAATCAAGTGGAAGA AAGGATATCAGTGATTGAAGATAAAATTAATGAAATAAAGTGAGAAGACA AGATTAGAGACAAAAAAATAAAAAAGAAACATTCAAATTCAGGAAATACA GAGAACATCACAAAGATACTCCTTGAGAAGAGCAACCCCAAGACACATAA TTGTCAGACTCAGCAAGGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTGAC CAACAAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACCA TACAAACCAGAAAAGAGTTGGGACCAATATTCAACATTCTGAAAGAAAAG ATTTTTGAAACTAGAATTTCATATCCAGCCAAACTAAGCTTCGTATGTGA ATGAGAAATAAAATCCTTTGCAGACAAGGAGATGCTGAGAGATTTTGTCA CCACCAGGCCTGCCTTACAATAAGAGCTCCTGAAGGAAGCACTAAACATG GAAAGGAACAACGGGTACCAGCCACTGCAAAAACATACGAAATTGTAAAG ACCATTGATGCTATGAAGAAACTGCATCAATTAATGGGCAAAATAACCAG CTAACGTCATGACAGGATCAAATTCACATATAACAATACTAACCTTCAAT GTAAATGGGATAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGAT AAAGAATCAAGACCCATATGGTGTGCTGTATTCAGGAGACCCATCTCACA TGCAAAGACACACATAGGCCCAAAATGAAGGTATGTCTGGAATTGGTGGG TTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCGGACCCTCGCGGTGAG TGTTACAGTTCTTAAAGGCAGCGTGTCTGGAGTTTGTTCCTTCTGATGTT CAGACATGTTCAGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGC TTCAGGAGTGAAGCTGCGGACCTTCGCAGTGAGTGTTACAGCTCTTAAGG CAGCATGTCTGGAGTTGTTCGTTCCTCCTGTCTGGAGTTGTTCATTCCTC CTGGTGGGTTCGTGGCCTCACTGGCCTCAGGAGTGAAGCTGCAGACCTTC ACGGTGAGTGTTACAGCTCATAAAGGCAGTGTGGACCCAAAGAGTGAGCA GCAGCAAGATTTATTGCAAAGAGTGAAAGAACAAAGCTTCCACAGTGTGG AAGGGGACCCAAGCGGGTTGCTACTGCTTGAAGGGGTGGCTTGCCCCTCC ACACCTGTGGGTATTTCTAGTCAGGTGGGACAAGAGACTGAGAAAGAGAA ATAAGACACAGAGACAAAGTATAGAGAAACAACAGTGAGTCCAGGGGACC GGCGCTCAGCATACCAAGGACCTGCACCGGCACCGGTCTCTGAATTCCCT CAGTTTTTATTGATTATTATCGTCATTATTTCAGTAAAAAGGAATGTAGT AGGAGGGCAGGGTGATAATAAGGAGAAGGTCAGCAACAAACGTGAGCAAT AGAATCTACATCATAATTCAGTTCAAGGGAAGGTACTATGACTGGACGTG CACGTAAGCCAGATTTATGTTTCTCTCCACCCAAACATGTCGGTGGAGTA AAGAATAACAAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAG GGCAGTTTTTCTCTCATTTCAGAATTGAACAAATGTACAATCGGGATTTA TACCGAGACATTTAGTTCCCATGGGCAGGCAGGAGACAGTGGCCTTCCTC TATCTCGACTGCAAGAGGCTTTCCTCTTTTACTAATCCACCAGAGCACAG ACCCTTTATGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCTCATCCCAT GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCT GCTTTCAAGGGCAGAGGTCCCTGTGGCTTTCTGCAGTGCATTGTGCCGCC AAGGCCACACCCACCCAGAACTCGTGCTGGCCTGCAAGTGCTGCGCACAG CCCCAGTTCCCGCCCATGCCTCTCCCTCCACACCTCCCTGCAATCTGAGG AAGCCAGCTCCAGTCTCAGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGC GGCGGGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGTGCTGAGGCTGA GGAGGTGCCAAGAGTGAGCGAGGGCTGCCAGCACACTGCCACCTCTCAAA GGGATGGAGGAAGATCTACAAAACAAATGGAAAGCAAAAAAAAGCAGGGA TTGCAATCCTGGTCTCTGATAAAACAGACATTAAACCAACAAAGATGAAA GGAGACAAAGAAGGCCATCACATAATGGTAAGGGGATCAGTTCAACAAGA AGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGAACCCAGAT TCATAAAGCAAGTTCTTAGAGACCTACAAAGAGGCTTAGACTCCCATACA ATAGTAATGGGAGACAGTAACACCCCACTGTTAATATTAGACAGAAAACA TGACAAAATTAATAAGGATGTCCAGGACTTGAACTCAGCTCTAGACCAAG TAGGCCTAATACACATCTACAGAACTCTCCACCCCAAGTCAACACAATAT ACATTCTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAAT TGGAAGTAAAACACTCCTCAGCAAATGCCAAAGAACAGCAATCACAACAA ACTGTCTCCCAGACCACAGTGCAATCAAATTAGAACTCAGGACTGAAAAA CTCACTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTCCTGAA TGACTACTAGGTAAATAACAAACTGAAGGCAGAAATAAACATGGTCTTTG AAACCAATGAGAACAAAGACACAGTGTAGCAGAATCTCTGGGACACATTT AAAACAGTGTGTAGAGGGATATTTACAGCACTGAATA	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show HG02145.hp2 HG02897.hp1 HG06807.hp1 NA18982.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0163 a0002c0002t0002g0004 a0002c0002t0002g0043 a0002c0002t0002g0063	8	265	0.0302	-6786	c.722 others(13): Show c.722+228_*5408del		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	8/8					chr14	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(4052): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG03831.hp1 HG06807.hp1 HG03831.hp1 HG06807.hp1	a0041 a0042 a0041 a0042	a0041c0069 a0042c0056 a0041c0069 a0042c0056	a0041c0069t0003 a0042c0056t0002 a0041c0069t0003 a0042c0056t0002	a0041c0069t0003g0243 a0042c0056t0002g0049 a0041c0069t0003g0243 a0042c0056t0002g0049	2	172	0.0116	-4059	c.350 others(9): Show c.3506_3892del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122602824	TTAAGATG others(8111): Show TTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATC TTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTT GACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCT CATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAAT CCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGA GTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTG GGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGG CCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATT GTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTG CCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTG GTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGG TTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGA ACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCC CTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGT CACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCT TCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCA GGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGAC ATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTC TGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGA GGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCT GGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTC CTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAG GGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTC GGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCC TTGCTGACTCAGGAACACC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(17): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02683.hp2 HG02698.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18944.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0037	a0001c0002 a0001c0036 a0002c0008 others(5): Show a0001c0002 a0001c0036 a0002c0008 a0005c0006 a0005c0022 a0007c0010 a0007c0021 a0037c0037	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0036t0002 a0002c0008t0002 a0005c0006t0003 a0005c0022t0002 a0007c0010t0002 a0007c0021t0001 a0037c0037t0003	a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 others(13): Show a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 a0001c0002t0003g0242 a0001c0002t0004g0206 a0001c0036t0002g0186 a0002c0008t0002g0212 a0005c0006t0003g0004 a0005c0006t0003g0060 a0005c0006t0003g0084 a0005c0022t0002g0086 a0007c0010t0002g0012 a0007c0010t0002g0080 a0007c0010t0002g0082 a0007c0021t0001g0083 a0037c0037t0003g0111	20	227	0.0881	-8118	c.408 others(15): Show c.4085-84_4859-86del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	34/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DNAAF4_chr15_55425308_55513234	55430684	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp1 NA19240.hp2 NA20805.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0007 a0005c0004 a0004c0005 a0004c0007 a0005c0004	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(5): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0003 a0005c0004t0003 a0005c0004t0005	a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 others(50): Show a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 a0004c0005t0002g0273 a0004c0005t0002g0274 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0002g0277 a0004c0005t0002g0278 a0004c0005t0002g0279 a0004c0005t0002g0280 a0004c0005t0002g0281 a0004c0005t0003g0253 a0004c0005t0003g0254 a0004c0005t0003g0255 a0004c0005t0003g0297 a0004c0005t0003g0299 a0004c0005t0003g0300 a0004c0005t0003g0301 a0004c0005t0003g0302 a0004c0005t0005g0285 a0004c0005t0005g0286 a0004c0005t0005g0287 a0004c0005t0005g0288 a0004c0005t0007g0284 a0004c0005t0007g0289 a0004c0007t0003g0298 a0005c0004t0003g0067 a0005c0004t0003g0257 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0282 a0005c0004t0003g0283 a0005c0004t0003g0319 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0005g0256	53	336	0.1577	0	c.124 others(4): Show c.1249G>T	p.Glu others(4): Show p.Glu417*	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	10/10	1617/1993	1249/1263	417/420		chr15	TogoVar
DPP7_chr9_137105546_137119733	137110665	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0021 a0003c0023 a0003c0005 a0003c0021 a0003c0023	a0003c0005t0001 a0003c0021t0001 a0003c0023t0001 a0003c0005t0001 a0003c0021t0001 a0003c0023t0001	a0003c0005t0001g0009 a0003c0005t0001g0059 a0003c0021t0001g0071 others(1): Show a0003c0005t0001g0009 a0003c0005t0001g0059 a0003c0021t0001g0071 a0003c0023t0001g0072	15	452	0.0332	1	c.146 others(5): Show c.1461dupG	p.Pro others(5): Show p.Pro488fs	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	13/13	1481/1601	1461/1479	487/492		chr9	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	163	402	0.4055	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.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 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0003c0027 a0004c0008 a0005c0009 a0006c0011 a0008c0019 a0009c0023 a0010c0031 a0011c0026 a0012c0029 a0013c0035 a0014c0021 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0003c0027t0008 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0005 a0006c0011t0007 a0008c0019t0002 a0009c0023t0001 a0010c0031t0003 a0011c0026t0003 a0012c0029t0005 a0013c0035t0011 a0014c0021t0002 a0015c0030t0005	a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0247 a0001c0001t0009g0024 a0001c0001t0009g0331 a0001c0001t0010g0278 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0003g0341 a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0001c0007t0013g0239 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0015t0010g0179 a0001c0015t0010g0246 a0002c0004t0001g0035 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0055 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0097 a0002c0004t0001g0249 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0003g0037 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0046 a0002c0004t0003g0049 a0002c0004t0003g0052 a0002c0004t0003g0053 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0285 a0002c0004t0015g0040 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0116 a0002c0005t0001g0117 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0136 a0002c0005t0001g0152 a0002c0005t0001g0155 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0189 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0241 a0002c0005t0003g0123 a0002c0005t0003g0145 a0002c0005t0003g0231 a0002c0005t0003g0240 a0002c0022t0001g0131 a0003c0016t0002g0206 a0003c0016t0002g0272 a0003c0027t0008g0236 a0004c0008t0001g0002 a0004c0008t0001g0232 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0004c0008t0001g0267 a0004c0008t0003g0207 a0005c0009t0001g0147 a0005c0009t0005g0012 a0005c0009t0005g0146 a0005c0009t0005g0148 a0005c0009t0005g0238 a0005c0009t0005g0274 a0006c0011t0007g0004 a0006c0011t0007g0029 a0006c0011t0007g0030 a0006c0011t0007g0031 a0008c0019t0002g0304 a0008c0019t0002g0327 a0009c0023t0001g0132 a0010c0031t0003g0248 a0011c0026t0003g0188 a0012c0029t0005g0137 a0013c0035t0011g0098 a0014c0021t0002g0183 a0015c0030t0005g0149	212	372	0.5699	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
EIF4EBP2_chr10_70399145_70433618	70404547	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	420	0.0024	0	c.145 others(5): Show c.145+1G>A		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					chr10	TogoVar
EOGT_chr3_68970225_69018684	69004436	T T	A A	stop_gained stop_gained	HIGH	HG00735.hp2 HG02615.hp1 HG02723.hp2 others(2): Show HG00735.hp2 HG02615.hp1 HG02723.hp2 HG06807.hp1 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0005 a0003c0008t0029 others(2): Show a0003c0008t0001 a0003c0008t0005 a0003c0008t0029 a0003c0008t0032 a0003c0008t0063	a0003c0008t0001g0035 a0003c0008t0005g0036 a0003c0008t0029g0038 others(2): Show a0003c0008t0001g0035 a0003c0008t0005g0036 a0003c0008t0029g0038 a0003c0008t0032g0037 a0003c0008t0063g0388	5	442	0.0113	0	c.562 others(3): Show c.562A>T	p.Lys others(4): Show p.Lys188*	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	8/18	1028/4443	562/1584	188/527		chr3	TogoVar
EPHB6_chr7_142850076_142876093	142868500	G G	T T	stop_gained stop_gained	HIGH	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0004 a0008c0016t0004	a0008c0016t0004g0098 a0008c0016t0004g0098	1	310	0.0032	0	c.204 others(4): Show c.2047G>T	p.Gly others(4): Show p.Gly683*	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	15/20	2788/3999	2047/3069	683/1022		chr7	TogoVar
FAM149B1_chr10_73163119_73249504	73168308	T T	TGAG TGAG	start_lost others(1): Show start_lost disruptive_inframe_insertion	HIGH	HG00735.hp1 HG01243.hp1 HG01891.hp1 others(16): Show HG00735.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA19057.hp2 NA19075.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0006 a0001c0001 a0002c0002 a0008c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0002c0002t0016 a0008c0006t0014	a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 others(16): Show a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0006g0004 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0015g0208 a0002c0002t0016g0019 a0008c0006t0014g0098	19	232	0.0819	3	c.-2_ others(7): Show c.-2_1dupGGA		FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	1/14	223/5455	2/1749	1/582	INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM166B_chr9_35556831_35568878	35562396	A A	ATAGT ATAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0005 a0002c0003 a0003c0004 a0003c0005	a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0002g0019 a0003c0004t0001g0006 a0003c0005t0001g0009	87	434	0.2005	4	c.719 others(11): Show c.719_722dupACTA	p.Tyr others(5): Show p.Tyr241fs	FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	5/6	772/1054	722/828	241/275		chr9	TogoVar
FAM187B_chr19_35219800_35233739	35228117	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0002c0006 others(3): Show a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0009t0001 a0007c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0006t0001g0007 a0002c0006t0001g0032 a0002c0008t0001g0014 a0002c0009t0001g0022 a0002c0009t0001g0031 a0007c0014t0001g0026	126	448	0.2813	0	c.564 others(3): Show c.564G>A	p.Trp others(4): Show p.Trp188*	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding	1/2	623/1194	564/1110	188/369		chr19	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0017 a0019 a0020 a0021 a0022 a0024 a0025 a0026	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0004 a0005c0005 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0014 a0011c0015 a0012c0012 a0017c0027 a0019c0029 a0020c0034 a0021c0026 a0022c0030 a0024c0024 a0025c0033 a0026c0019	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0014t0001 a0011c0015t0001 a0012c0012t0002 a0017c0027t0001 a0019c0029t0001 a0020c0034t0002 a0021c0026t0008 a0022c0030t0001 a0024c0024t0001 a0025c0033t0001 a0026c0019t0001	a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0002g0139 a0002c0003t0002g0150 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0162 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0006t0002g0207 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0007t0003g0143 a0002c0007t0003g0144 a0002c0007t0003g0145 a0002c0007t0003g0146 a0002c0007t0003g0163 a0002c0007t0003g0164 a0002c0008t0004g0140 a0002c0008t0004g0147 a0002c0008t0004g0148 a0002c0008t0004g0149 a0002c0008t0004g0168 a0002c0008t0007g0161 a0002c0031t0006g0159 a0002c0032t0001g0204 a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0201 a0004c0004t0001g0013 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0030 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0005c0005t0001g0151 a0005c0005t0001g0152 a0005c0005t0001g0156 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0001g0160 a0005c0005t0001g0205 a0005c0005t0001g0206 a0006c0010t0001g0134 a0006c0010t0001g0135 a0006c0010t0001g0198 a0006c0010t0001g0199 a0006c0010t0001g0200 a0007c0009t0001g0016 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0001g0019 a0007c0009t0001g0020 a0008c0011t0002g0001 a0008c0011t0002g0048 a0008c0011t0002g0049 a0008c0025t0002g0133 a0009c0016t0005g0202 a0009c0016t0005g0203 a0010c0014t0001g0137 a0010c0014t0001g0138 a0011c0015t0001g0191 a0011c0015t0001g0192 a0012c0012t0002g0001 a0017c0027t0001g0120 a0019c0029t0001g0221 a0020c0034t0002g0136 a0021c0026t0008g0142 a0022c0030t0001g0014 a0024c0024t0001g0141 a0025c0033t0001g0187 a0026c0019t0001g0023	114	236	0.4831	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0007c0013 a0008c0019	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0007c0013t0002 a0008c0019t0006	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0003g0003 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0018 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0364 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0354 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0003g0209 a0002c0002t0004g0010 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0348 a0002c0002t0004g0350 a0002c0002t0004g0351 a0002c0002t0004g0352 a0002c0002t0004g0353 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0015 a0002c0015t0001g0181 a0003c0005t0001g0004 a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0072 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0338 a0003c0005t0001g0339 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0343 a0003c0007t0002g0344 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0337 a0004c0006t0001g0340 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0007c0013t0002g0222 a0008c0019t0006g0020	278	365	0.7616	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr6	TogoVar
FLG2_chr1_152343735_152365006	152350656	G G	T T	stop_gained stop_gained	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0003 a0004 a0005 others(9): Show a0003 a0004 a0005 a0006 a0016 a0018 a0019 a0020 a0032 a0034 a0036 a0037	a0003c0002 a0003c0042 a0003c0043 others(12): Show a0003c0002 a0003c0042 a0003c0043 a0004c0004 a0004c0045 a0005c0005 a0006c0007 a0016c0025 a0018c0023 a0019c0022 a0020c0028 a0032c0049 a0034c0044 a0036c0026 a0037c0027	a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 others(16): Show a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 a0003c0042t0002 a0003c0043t0002 a0004c0004t0002 a0004c0045t0002 a0005c0005t0002 a0005c0005t0006 a0005c0005t0008 a0006c0007t0002 a0016c0025t0002 a0018c0023t0013 a0019c0022t0002 a0020c0028t0002 a0032c0049t0002 a0034c0044t0002 a0036c0026t0002 a0037c0027t0002	a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 a0003c0002t0012g0022 a0003c0002t0019g0068 a0003c0042t0002g0065 a0003c0043t0002g0066 a0004c0004t0002g0004 a0004c0004t0002g0021 a0004c0045t0002g0069 a0005c0005t0002g0007 a0005c0005t0002g0033 a0005c0005t0006g0018 a0005c0005t0008g0023 a0006c0007t0002g0005 a0016c0025t0002g0032 a0018c0023t0013g0031 a0019c0022t0002g0030 a0020c0028t0002g0055 a0032c0049t0002g0071 a0034c0044t0002g0067 a0036c0026t0002g0053 a0037c0027t0002g0054	155	420	0.3690	0	c.713 others(4): Show c.7130C>A	p.Ser others(5): Show p.Ser2377*	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	7203/9124	7130/7176	2377/2391		chr1	TogoVar
FLG_chr1_152297165_152330239	152304352	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0005 a0008 a0009 others(21): Show a0005 a0008 a0009 a0022 a0023 a0024 a0029 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0096 a0103 a0110 a0124 a0125 a0126	a0005c0006 a0005c0132 a0008c0010 others(25): Show a0005c0006 a0005c0132 a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0029c0032 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0096c0166 a0103c0168 a0110c0067 a0124c0127 a0125c0167 a0126c0119	a0005c0006t0001 a0005c0132t0001 a0008c0010t0001 others(25): Show a0005c0006t0001 a0005c0132t0001 a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0029c0032t0001 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0096c0166t0001 a0103c0168t0001 a0110c0067t0001 a0124c0127t0001 a0125c0167t0001 a0126c0119t0002	a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 others(32): Show a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0029c0032t0001g0022 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0096c0166t0001g0118 a0103c0168t0001g0119 a0110c0067t0001g0116 a0124c0127t0001g0216 a0125c0167t0001g0115 a0126c0119t0002g0147	58	424	0.1368	0	c.105 others(5): Show c.10534C>T	p.Gln others(5): Show p.Gln3512*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10606/12793	10534/12186	3512/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152304887	C C	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.999 others(4): Show c.9999G>A	p.Trp others(5): Show p.Trp3333*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10071/12793	9999/12186	3333/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305571	G G	C C	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.931 others(4): Show c.9315C>G	p.Tyr others(5): Show p.Tyr3105*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9387/12793	9315/12186	3105/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305861	G G	A A	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0008 a0009 a0022 others(15): Show a0008 a0009 a0022 a0023 a0024 a0043 a0045 a0060 a0061 a0068 a0070 a0079 a0084 a0091 a0093 a0095 a0124 a0126	a0008c0010 a0008c0125 a0009c0013 others(18): Show a0008c0010 a0008c0125 a0009c0013 a0009c0064 a0009c0065 a0022c0026 a0023c0025 a0024c0027 a0043c0053 a0045c0054 a0060c0118 a0061c0126 a0068c0129 a0070c0120 a0079c0124 a0084c0128 a0091c0066 a0093c0122 a0095c0123 a0124c0127 a0126c0119	a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 others(18): Show a0008c0010t0001 a0008c0125t0001 a0009c0013t0002 a0009c0064t0002 a0009c0065t0002 a0022c0026t0001 a0023c0025t0002 a0024c0027t0003 a0043c0053t0003 a0045c0054t0001 a0060c0118t0001 a0061c0126t0001 a0068c0129t0003 a0070c0120t0002 a0079c0124t0001 a0084c0128t0001 a0091c0066t0002 a0093c0122t0001 a0095c0123t0001 a0124c0127t0001 a0126c0119t0002	a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 a0008c0125t0001g0215 a0009c0013t0002g0025 a0009c0013t0002g0141 a0009c0064t0002g0142 a0009c0065t0002g0143 a0022c0026t0001g0063 a0022c0026t0001g0208 a0023c0025t0002g0044 a0023c0025t0002g0148 a0024c0027t0003g0133 a0024c0027t0003g0138 a0024c0027t0003g0140 a0043c0053t0003g0042 a0045c0054t0001g0043 a0060c0118t0001g0145 a0061c0126t0001g0146 a0068c0129t0003g0139 a0070c0120t0002g0149 a0079c0124t0001g0209 a0084c0128t0001g0217 a0091c0066t0002g0144 a0093c0122t0001g0213 a0095c0123t0001g0214 a0124c0127t0001g0216 a0126c0119t0002g0147	37	424	0.0873	0	c.902 others(4): Show c.9025C>T	p.Arg others(5): Show p.Arg3009*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9097/12793	9025/12186	3009/4061		chr1	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(345): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0013 a0011c0014 a0012c0012 a0014c0020 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0022 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0013t0001 a0011c0014t0006 a0012c0012t0002 a0014c0020t0001 a0015c0021t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0059 a0001c0001t0010g0001 a0001c0001t0010g0013 a0001c0001t0013g0012 a0001c0001t0013g0048 a0001c0001t0013g0055 a0001c0001t0018g0066 a0001c0001t0019g0074 a0001c0001t0020g0076 a0001c0001t0021g0032 a0001c0015t0003g0049 a0001c0015t0003g0061 a0001c0015t0003g0068 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0028 a0002c0002t0004g0030 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0152 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0025g0028 a0002c0019t0004g0003 a0003c0003t0001g0157 a0003c0003t0002g0002 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0014g0002 a0003c0016t0002g0019 a0003c0016t0002g0161 a0004c0005t0003g0004 a0004c0005t0003g0027 a0004c0005t0003g0038 a0004c0005t0003g0112 a0004c0005t0003g0113 a0004c0005t0003g0116 a0004c0005t0003g0117 a0004c0005t0003g0120 a0004c0005t0003g0127 a0004c0008t0002g0036 a0004c0008t0002g0093 a0004c0008t0002g0095 a0004c0008t0002g0097 a0004c0008t0002g0126 a0004c0008t0002g0145 a0004c0008t0022g0046 a0004c0009t0004g0016 a0004c0009t0004g0035 a0004c0009t0004g0094 a0004c0009t0004g0096 a0005c0004t0003g0011 a0005c0004t0003g0018 a0005c0004t0003g0041 a0005c0004t0003g0042 a0005c0004t0003g0043 a0005c0004t0003g0136 a0005c0004t0003g0137 a0005c0004t0003g0138 a0005c0004t0003g0139 a0005c0004t0003g0141 a0005c0004t0003g0142 a0005c0004t0003g0143 a0005c0004t0003g0144 a0005c0004t0003g0146 a0005c0004t0003g0148 a0005c0004t0003g0149 a0005c0004t0008g0017 a0005c0004t0008g0029 a0005c0004t0008g0140 a0005c0004t0008g0147 a0006c0006t0006g0007 a0006c0006t0006g0037 a0006c0006t0006g0098 a0006c0006t0006g0099 a0006c0006t0006g0100 a0006c0006t0006g0101 a0006c0006t0006g0102 a0006c0006t0006g0103 a0006c0006t0006g0104 a0006c0006t0006g0106 a0006c0006t0006g0107 a0006c0006t0006g0108 a0006c0006t0006g0109 a0006c0006t0011g0007 a0006c0006t0011g0105 a0006c0006t0016g0025 a0009c0011t0002g0023 a0009c0011t0002g0092 a0010c0013t0001g0021 a0011c0014t0006g0078 a0011c0014t0006g0082 a0011c0014t0006g0083 a0012c0012t0002g0024 a0014c0020t0001g0164 a0015c0021t0002g0002	348	364	0.9560	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 others(34): Show a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0028 a0002c0002t0004g0030 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0152 a0002c0002t0005g0003 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0025g0028 a0002c0019t0004g0003 a0004c0009t0004g0016 a0004c0009t0004g0035 a0004c0009t0004g0094 a0004c0009t0004g0096	81	364	0.2225	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0003c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0003c0014t0001g0001	335	382	0.8770	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L1_chr2_113493665_113506150	113500127	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0002 a0002c0005 a0002c0010 others(3): Show a0002c0002 a0002c0005 a0002c0010 a0002c0018 a0007c0009 a0009c0017	a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 others(5): Show a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 a0002c0005t0002 a0002c0010t0002 a0002c0018t0002 a0007c0009t0012 a0009c0017t0013	a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 a0002c0005t0002g0000 a0002c0010t0002g0000 a0002c0018t0002g0000 a0007c0009t0012g0000 a0009c0017t0013g0000	99	324	0.3056	-1	c.876 others(4): Show c.876delC	p.Gly others(5): Show p.Gly293fs	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1468/2486	876/1227	292/408	INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD4L1_chr2_113493665_113506150	113500482	A A	G G	stop_lost stop_lost	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0009	a0002c0002 a0002c0005 a0002c0010 others(4): Show a0002c0002 a0002c0005 a0002c0010 a0002c0018 a0006c0011 a0007c0009 a0009c0017	a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 others(6): Show a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 a0002c0005t0002 a0002c0010t0002 a0002c0018t0002 a0006c0011t0002 a0007c0009t0012 a0009c0017t0013	a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 a0002c0005t0002g0000 a0002c0010t0002g0000 a0002c0018t0002g0000 a0006c0011t0002g0000 a0007c0009t0012g0000 a0009c0017t0013g0000	101	324	0.3117	0	c.122 others(4): Show c.1226A>G	p.Ter others(11): Show p.Ter409Trpext*?	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1818/2486	1226/1227	409/408		chr2	TogoVar
FSCB_chr14_44499149_44512283	44506568	C C	T T	stop_gained stop_gained	HIGH	HG03098.hp1 HG06807.hp1 HG03098.hp1 HG06807.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0005 a0010c0014t0005	a0010c0014t0005g0000 a0010c0014t0005g0000	2	444	0.0045	0	c.420 others(3): Show c.420G>A	p.Trp others(4): Show p.Trp140*	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	716/3135	420/2478	140/825		chr14	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032	91	392	0.2321	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0159 a0002c0002t0004g0184 a0002c0002t0004g0202 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0168 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0160 a0002c0014t0003g0167 a0002c0017t0001g0076 a0002c0021t0001g0177 a0002c0022t0001g0179 a0005c0011t0001g0077 a0005c0011t0001g0078	147	428	0.3435	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574		chr22	TogoVar
GEN1_chr2_17749138_17793946	17781726	CAAGTT CAAGTT	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(27): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG02015.hp1 HG02258.hp1 HG02602.hp2 HG03669.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18970.hp2 NA18982.hp2 NA18993.hp2 NA19010.hp2 NA19060.hp2 NA20805.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0023 a0004c0004t0036 a0004c0004t0001 a0004c0004t0023 a0004c0004t0036	a0004c0004t0001g0005 a0004c0004t0001g0012 a0004c0004t0001g0040 others(14): Show a0004c0004t0001g0005 a0004c0004t0001g0012 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0156 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0168 a0004c0004t0023g0118 a0004c0004t0023g0122 a0004c0004t0036g0043	30	318	0.0943	-5	c.251 others(14): Show c.2515_2519delAAGTT	p.Lys others(5): Show p.Lys839fs	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	14/14	2738/9957	2515/2727	839/908		chr2	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GJB4_chr1_34754740_34767327	34761404	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02258.hp1 HG02647.hp1 others(7): Show HG01109.hp1 HG02258.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0008 a0005c0009 a0005c0006 a0005c0008 a0005c0009	a0005c0006t0001 a0005c0006t0004 a0005c0008t0001 others(1): Show a0005c0006t0001 a0005c0006t0004 a0005c0008t0001 a0005c0009t0001	a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0008t0001g0002 others(1): Show a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0008t0001g0002 a0005c0009t0001g0002	10	460	0.0217	-1	c.153 others(4): Show c.153delT	p.Phe others(4): Show p.Phe51fs	GJB4	ENSG00000189433.7	transcript	ENST00000339480.3	protein_coding	2/2	524/1444	153/801	51/266	INFO_REALIGN_3_PRIME	chr1	TogoVar
GJB4_chr1_34754740_34767327	34761492	C C	T T	stop_gained stop_gained	HIGH	HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show HG01109.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0009 a0005c0006 a0005c0009	a0005c0006t0001 a0005c0006t0004 a0005c0009t0001 a0005c0006t0001 a0005c0006t0004 a0005c0009t0001	a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002 a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002	8	460	0.0174	0	c.238 others(3): Show c.238C>T	p.Gln others(3): Show p.Gln80*	GJB4	ENSG00000189433.7	transcript	ENST00000339480.3	protein_coding	2/2	609/1444	238/801	80/266		chr1	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129472	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA20905.hp1	a0003 a0004 a0008 others(18): Show a0003 a0004 a0008 a0009 a0010 a0014 a0016 a0019 a0021 a0024 a0025 a0031 a0032 a0033 a0034 a0035 a0037 a0039 a0041 a0042 a0048	a0003c0003 a0003c0047 a0004c0004 others(21): Show a0003c0003 a0003c0047 a0004c0004 a0008c0009 a0009c0008 a0010c0017 a0010c0045 a0010c0050 a0014c0032 a0016c0012 a0019c0013 a0021c0025 a0024c0048 a0025c0044 a0031c0022 a0032c0053 a0033c0037 a0034c0042 a0035c0039 a0037c0057 a0039c0051 a0041c0055 a0042c0028 a0048c0027	a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 others(24): Show a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 a0004c0004t0003 a0008c0009t0001 a0009c0008t0003 a0009c0008t0006 a0010c0017t0006 a0010c0017t0009 a0010c0045t0006 a0010c0050t0009 a0014c0032t0022 a0016c0012t0010 a0019c0013t0003 a0021c0025t0003 a0024c0048t0002 a0025c0044t0003 a0031c0022t0003 a0032c0053t0019 a0033c0037t0006 a0034c0042t0003 a0035c0039t0003 a0037c0057t0009 a0039c0051t0010 a0041c0055t0003 a0042c0028t0003 a0048c0027t0002	a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(39): Show a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0033 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0018g0036 a0003c0047t0002g0040 a0004c0004t0003g0010 a0004c0004t0003g0050 a0004c0004t0003g0071 a0004c0004t0003g0084 a0008c0009t0001g0013 a0008c0009t0001g0123 a0009c0008t0003g0100 a0009c0008t0003g0102 a0009c0008t0006g0099 a0009c0008t0006g0101 a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 a0010c0050t0009g0108 a0014c0032t0022g0054 a0016c0012t0010g0024 a0019c0013t0003g0093 a0019c0013t0003g0097 a0021c0025t0003g0047 a0024c0048t0002g0034 a0025c0044t0003g0087 a0031c0022t0003g0044 a0032c0053t0019g0043 a0033c0037t0006g0075 a0034c0042t0003g0085 a0035c0039t0003g0052 a0037c0057t0009g0121 a0039c0051t0010g0114 a0041c0055t0003g0115 a0042c0028t0003g0049 a0048c0027t0002g0031	55	204	0.2696	0	c.198 others(4): Show c.1981C>T	p.Gln others(4): Show p.Gln661*	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	2072/3822	1981/2007	661/668		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440317	A A	ATCCCGCA others(226): Show ATCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACA TCTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTG CTCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACA TCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCC TGCTCCCATATCTTCTCCTCCTGCTCCTGCATCT	frameshift_variant frameshift_variant	HIGH	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA19240.hp1	a0005 a0012 a0005 a0012	a0005c0006 a0005c0008 a0005c0031 others(1): Show a0005c0006 a0005c0008 a0005c0031 a0012c0019	a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 others(5): Show a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0007 a0005c0008t0008 a0005c0031t0007 a0012c0019t0014	a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(7): Show a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0007g0114 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0031t0007g0113 a0012c0019t0014g0052 a0012c0019t0014g0053	17	393	0.0433	233	c.215 others(242): Show c.2157_2158insAGATGCAGGAGCAGGAGGAGAAGATATGGGAGCAGG AGAAGATGCGGGACCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATG TGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGCGGGAGCA GGAAGATGTGGAGACAGGAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATG TGGGAGCAGGAGGAGAAGATGCGGAAGCAGGAGGAGAAGATGCGGGA	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2219/3499	2157/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0005 a0001c0010 others(59): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0002c0002 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0004c0003 a0005c0006 a0005c0008 a0005c0031 a0006c0007 a0007c0009 a0009c0018 a0009c0025 a0009c0026 a0010c0016 a0011c0022 a0012c0019 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0017c0063 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0023c0033 a0024c0028 a0025c0030 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0033c0060 a0034c0032 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(82): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0017 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0004c0003t0002 a0004c0003t0005 a0004c0003t0006 a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0007 a0005c0008t0008 a0005c0008t0022 a0005c0031t0007 a0006c0007t0001 a0007c0009t0002 a0007c0009t0011 a0009c0018t0010 a0009c0025t0010 a0009c0026t0010 a0010c0016t0002 a0011c0022t0015 a0011c0022t0016 a0012c0019t0014 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0017c0063t0006 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0023c0033t0002 a0024c0028t0002 a0025c0030t0002 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0033c0060t0005 a0034c0032t0009 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0037 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0005g0025 a0002c0002t0006g0038 a0002c0002t0011g0036 a0002c0002t0017g0105 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0004c0003t0002g0008 a0004c0003t0002g0015 a0004c0003t0002g0029 a0004c0003t0002g0030 a0004c0003t0005g0110 a0004c0003t0006g0010 a0004c0003t0006g0047 a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0007g0114 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0008t0022g0115 a0005c0031t0007g0113 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0007c0009t0002g0016 a0007c0009t0011g0120 a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118 a0010c0016t0002g0026 a0011c0022t0015g0042 a0011c0022t0016g0043 a0012c0019t0014g0052 a0012c0019t0014g0053 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0017c0063t0006g0048 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0023c0033t0002g0049 a0024c0028t0002g0109 a0025c0030t0002g0111 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0033c0060t0005g0099 a0034c0032t0009g0079 a0035c0054t0001g0093	390	394	0.9898	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GPR135_chr14_59455759_59470380	59464198	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0016 a0003c0004 a0003c0016	a0003c0004t0001 a0003c0016t0001 a0003c0004t0001 a0003c0016t0001	a0003c0004t0001g0000 a0003c0016t0001g0000 a0003c0004t0001g0000 a0003c0016t0001g0000	16	366	0.0437	2	c.102 others(11): Show c.1027_1028dupTG	p.Trp others(5): Show p.Trp344fs	GPR135	ENSG00000181619.12	transcript	ENST00000395116.2	protein_coding	1/1	1182/4622	1028/1485	343/494		chr14	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 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.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 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 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.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 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	425	446	0.9529	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPRC6A_chr6_116787085_116834083	116792598	A A	AGGT AGGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show HG00099.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA19030.hp1 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0014	a0003c0003 a0005c0005 a0005c0015 others(3): Show a0003c0003 a0005c0005 a0005c0015 a0005c0028 a0010c0023 a0014c0025	a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 others(3): Show a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0010c0023t0001 a0014c0025t0001	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0166 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0255 a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262 a0010c0023t0001g0083 a0014c0025t0001g0252	60	366	0.1639	3	c.232 others(12): Show c.2324_2325insACC	p.Tyr others(15): Show p.Tyr775delinsTerPro	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	6/6	2394/2908	2324/2781	775/926		chr6	TogoVar
GRIN3B_chr19_995419_1014732	1004897	G G	GCGTT GCGTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19030.hp1 NA19065.hp1 NA19067.hp1 NA19089.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0003 a0010 a0024 others(6): Show a0003 a0010 a0024 a0033 a0074 a0087 a0092 a0102 a0108	a0003c0005 a0003c0025 a0003c0026 others(21): Show a0003c0005 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0038 a0003c0039 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0072 a0003c0073 a0010c0023 a0010c0054 a0010c0057 a0010c0142 a0024c0033 a0033c0050 a0074c0139 a0087c0091 a0092c0060 a0102c0100 a0108c0080	a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 others(21): Show a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 a0003c0027t0002 a0003c0028t0002 a0003c0038t0002 a0003c0039t0002 a0003c0068t0002 a0003c0069t0002 a0003c0070t0002 a0003c0071t0002 a0003c0072t0002 a0003c0073t0002 a0010c0023t0001 a0010c0054t0001 a0010c0057t0002 a0010c0142t0003 a0024c0033t0002 a0033c0050t0001 a0074c0139t0003 a0087c0091t0001 a0092c0060t0002 a0102c0100t0001 a0108c0080t0004	a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 others(35): Show a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 a0003c0005t0002g0066 a0003c0005t0002g0073 a0003c0005t0002g0085 a0003c0005t0002g0086 a0003c0005t0002g0090 a0003c0025t0002g0006 a0003c0025t0002g0028 a0003c0026t0002g0006 a0003c0026t0002g0089 a0003c0026t0002g0097 a0003c0027t0002g0006 a0003c0027t0002g0028 a0003c0028t0002g0012 a0003c0028t0002g0092 a0003c0038t0002g0012 a0003c0039t0002g0046 a0003c0068t0002g0084 a0003c0069t0002g0016 a0003c0070t0002g0091 a0003c0071t0002g0012 a0003c0072t0002g0088 a0003c0073t0002g0087 a0010c0023t0001g0034 a0010c0023t0001g0141 a0010c0054t0001g0056 a0010c0057t0002g0067 a0010c0142t0003g0160 a0024c0033t0002g0029 a0033c0050t0001g0111 a0033c0050t0001g0112 a0074c0139t0003g0162 a0087c0091t0001g0191 a0092c0060t0002g0006 a0102c0100t0001g0166 a0108c0080t0004g0083	58	444	0.1306	4	c.139 others(13): Show c.1396_1397insCGTT	p.Gly others(5): Show p.Gly466fs	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	3/9	1416/3281	1397/3132	466/1043		chr19	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0008 a0007c0007 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001 a0007c0007t0001 a0008c0009t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0002c0002t0001g0028 a0002c0002t0001g0067 a0002c0002t0001g0184 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0318 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0034 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0098 a0003c0003t0001g0235 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0323 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0343 a0003c0003t0001g0348 a0003c0003t0001g0349 a0003c0003t0001g0350 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0004c0005t0001g0185 a0004c0005t0001g0186 a0004c0005t0001g0214 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0276 a0005c0006t0001g0110 a0006c0008t0001g0223 a0006c0008t0001g0226 a0007c0007t0001g0014 a0007c0007t0001g0019 a0007c0007t0001g0065 a0008c0009t0001g0189 a0008c0009t0001g0190	110	372	0.2957	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3					chr3	TogoVar

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