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
A2M_chr12_9062708_9120919	9093580	CTATGG CTATGG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18953.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0013c0014 a0014c0013	a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0021t0002 a0013c0014t0002 a0014c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0021t0002g0076 a0013c0014t0002g0079 a0014c0013t0002g0049	50	330	0.1515	-5	c.212 others(18): Show c.2126-6_2126-2delCCATA		A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35					chr12	TogoVar
ABCA10_chr17_69143007_69233824	69154324	C C	CACCTGGA others(1): Show CACCTGGAA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0007 a0006c0016 others(1): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(4): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(32): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	36	346	0.1040	8	c.369 others(19): Show c.3695-6_3696dupTTCCAGGT	p.Glu others(6): Show p.Glu1233fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	31/39	4252/6008	3696/4632	1232/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193161	G G	A A	stop_gained stop_gained	HIGH	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0188 a0006c0016t0004g0191 a0006c0016t0004g0188 a0006c0016t0004g0191	2	346	0.0058	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	15/39	2285/6008	1729/4632	577/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193976	AAT AAT	A A	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0015	a0005c0005 a0006c0007 a0006c0016 others(2): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008 a0015c0029	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(5): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0015c0029t0014	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(33): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0015c0029t0014g0198	37	346	0.1069	-2	c.135 others(11): Show c.1357_1358delAT	p.Ile others(5): Show p.Ile453fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	1914/6008	1357/4632	453/1543		chr17	TogoVar
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0013 a0014 others(1): Show a0002 a0013 a0014 a0019	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0013c0016 a0014c0029 a0019c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0013c0016t0001 a0014c0029t0001 a0019c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0121 a0002c0002t0001g0140 a0002c0002t0003g0039 a0002c0008t0001g0041 a0002c0008t0001g0100 a0002c0011t0001g0001 a0002c0011t0001g0012 a0002c0024t0001g0093 a0002c0025t0001g0004 a0002c0026t0001g0109 a0002c0027t0001g0001 a0013c0016t0001g0001 a0014c0029t0001g0036 a0019c0028t0001g0001	150	398	0.3769	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901		chr11	TogoVar
ADGRD2_chr9_124445451_124483580	124456620	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0046 a0052 a0046 a0052	a0046c0094 a0052c0066 a0046c0094 a0052c0066	a0046c0094t0002 a0052c0066t0002 a0046c0094t0002 a0052c0066t0002	a0046c0094t0002g0218 a0052c0066t0002g0086 a0046c0094t0002g0218 a0052c0066t0002g0086	2	402	0.0050	0	c.142 others(6): Show c.1426-2A>C		ADGRD2	ENSG00000180264.12	transcript	ENST00000696331.1	protein_coding	9/24					chr9	TogoVar
ADGRE1_chr19_6882579_6945450	6921702	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0004 a0006 a0007 others(24): Show a0004 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0024 a0029 a0030 a0036 a0037 a0038 a0039 a0041 a0047 a0049 a0052 a0054 a0056 a0059 a0066	a0004c0004 a0006c0006 a0007c0007 others(24): Show a0004c0004 a0006c0006 a0007c0007 a0012c0012 a0013c0011 a0014c0015 a0015c0016 a0016c0014 a0017c0018 a0018c0017 a0020c0019 a0021c0022 a0024c0023 a0029c0038 a0030c0055 a0036c0066 a0037c0061 a0038c0031 a0039c0039 a0041c0053 a0047c0057 a0049c0059 a0052c0058 a0054c0047 a0056c0051 a0059c0067 a0066c0065	a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 others(40): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 a0007c0007t0005 a0012c0012t0001 a0012c0012t0005 a0013c0011t0002 a0014c0015t0003 a0015c0016t0001 a0015c0016t0006 a0016c0014t0002 a0016c0014t0004 a0016c0014t0005 a0017c0018t0002 a0018c0017t0004 a0018c0017t0005 a0020c0019t0001 a0021c0022t0001 a0021c0022t0006 a0024c0023t0001 a0029c0038t0001 a0030c0055t0006 a0036c0066t0004 a0037c0061t0002 a0038c0031t0005 a0039c0039t0006 a0041c0053t0007 a0047c0057t0004 a0049c0059t0001 a0052c0058t0002 a0054c0047t0002 a0056c0051t0004 a0059c0067t0002 a0066c0065t0002	a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 a0004c0004t0001g0067 a0004c0004t0001g0078 a0004c0004t0001g0164 a0004c0004t0001g0175 a0004c0004t0001g0176 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0247 a0004c0004t0001g0253 a0004c0004t0001g0279 a0004c0004t0002g0124 a0004c0004t0002g0312 a0004c0004t0004g0115 a0004c0004t0005g0122 a0004c0004t0005g0125 a0004c0004t0005g0255 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0006g0154 a0004c0004t0006g0295 a0006c0006t0001g0190 a0006c0006t0001g0191 a0006c0006t0001g0192 a0006c0006t0001g0193 a0006c0006t0001g0194 a0006c0006t0001g0195 a0006c0006t0001g0264 a0006c0006t0002g0065 a0006c0006t0002g0297 a0006c0006t0004g0298 a0006c0006t0004g0299 a0006c0006t0005g0096 a0007c0007t0001g0084 a0007c0007t0001g0108 a0007c0007t0002g0097 a0007c0007t0002g0104 a0007c0007t0004g0309 a0007c0007t0005g0133 a0007c0007t0005g0287 a0012c0012t0001g0001 a0012c0012t0001g0064 a0012c0012t0001g0110 a0012c0012t0001g0208 a0012c0012t0001g0257 a0012c0012t0005g0294 a0013c0011t0002g0139 a0014c0015t0003g0113 a0014c0015t0003g0155 a0014c0015t0003g0156 a0014c0015t0003g0157 a0014c0015t0003g0269 a0015c0016t0001g0126 a0015c0016t0006g0074 a0015c0016t0006g0075 a0015c0016t0006g0134 a0015c0016t0006g0135 a0016c0014t0002g0073 a0016c0014t0002g0105 a0016c0014t0002g0117 a0016c0014t0004g0106 a0016c0014t0005g0118 a0017c0018t0002g0305 a0018c0017t0004g0091 a0018c0017t0004g0092 a0018c0017t0004g0121 a0018c0017t0005g0090 a0020c0019t0001g0049 a0021c0022t0001g0216 a0021c0022t0001g0233 a0021c0022t0006g0263 a0024c0023t0001g0219 a0029c0038t0001g0148 a0030c0055t0006g0204 a0036c0066t0004g0081 a0037c0061t0002g0296 a0038c0031t0005g0129 a0039c0039t0006g0321 a0041c0053t0007g0095 a0047c0057t0004g0111 a0049c0059t0001g0329 a0052c0058t0002g0100 a0054c0047t0002g0102 a0056c0051t0004g0316 a0059c0067t0002g0153 a0066c0065t0002g0112	91	336	0.2708	1	c.162 others(7): Show c.1621-3dupT		ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding	13/20				INFO_REALIGN_3_PRIME	chr19	TogoVar
AGAP6_chr10_49983406_50015499	49988921	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show HG00140.hp2 HG00544.hp1 HG00733.hp1 HG01123.hp1 HG02135.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18948.hp2 NA18989.hp1 NA19009.hp1 NA19076.hp2 NA19091.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0027 a0004c0004 a0004c0026 a0004c0027	a0004c0004t0004 a0004c0026t0004 a0004c0027t0011 a0004c0004t0004 a0004c0026t0004 a0004c0027t0011	a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 others(8): Show a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0125 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0026t0004g0124 a0004c0027t0011g0186	20	404	0.0495	-1	c.208 others(4): Show c.208delC	p.Arg others(4): Show p.Arg70fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	518/2684	208/2061	70/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50002097	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00639.hp2 HG01109.hp2 HG02630.hp2 others(4): Show HG00639.hp2 HG01109.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG03471.hp2 NA18522.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0004c0026 others(1): Show a0001c0001 a0004c0004 a0004c0026 a0007c0008	a0001c0001t0001 a0004c0004t0004 a0004c0026t0004 others(1): Show a0001c0001t0001 a0004c0004t0004 a0004c0026t0004 a0007c0008t0001	a0001c0001t0001g0143 a0004c0004t0004g0121 a0004c0026t0004g0124 others(4): Show a0001c0001t0001g0143 a0004c0004t0004g0121 a0004c0026t0004g0124 a0007c0008t0001g0151 a0007c0008t0001g0166 a0007c0008t0001g0167 a0007c0008t0001g0171	7	404	0.0173	0	c.497 others(5): Show c.497+1G>A		AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/7					chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502198	G G	GTACCAGA GTACCAGA	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show HG00735.hp2 HG01361.hp2 HG01884.hp1 HG02451.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0011	a0003c0003 a0006c0008 a0008c0009 others(1): Show a0003c0003 a0006c0008 a0008c0009 a0011c0010	a0003c0003t0001 a0006c0008t0006 a0008c0009t0001 others(1): Show a0003c0003t0001 a0006c0008t0006 a0008c0009t0001 a0011c0010t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(7): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0006c0008t0006g0090 a0008c0009t0001g0097 a0011c0010t0001g0093	14	204	0.0686	7	c.193 others(16): Show c.1930_1931insTCTGGTA	p.Thr others(5): Show p.Thr644fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	2042/2387	1930/1977	644/658		chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502280	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(8): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(4): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096	11	204	0.0539	-1	c.184 others(5): Show c.1848delC	p.Asn others(5): Show p.Asn616fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1960/2387	1848/1977	616/658		chr10	TogoVar
AGAP9_chr10_47496854_47528638	47523471	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0036 a0003c0003t0001g0015 a0003c0003t0001g0016 others(5): Show a0002c0002t0002g0036 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096	12	204	0.0588	1	c.55d others(3): Show c.55dupC	p.Gln others(4): Show p.Gln19fs	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	1/8	167/2387	55/1977	19/658		chr10	TogoVar
AKR1E2_chr10_4821207_4853062	4847211	C C	T T	stop_gained stop_gained	HIGH	HG01175.hp2 HG01346.hp2 HG01928.hp1 others(8): Show HG01175.hp2 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 NA18522.hp2 NA20905.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0007 a0004c0004t0005 a0004c0004t0007	a0004c0004t0005g0023 a0004c0004t0005g0039 a0004c0004t0005g0045 others(6): Show a0004c0004t0005g0023 a0004c0004t0005g0039 a0004c0004t0005g0045 a0004c0004t0005g0144 a0004c0004t0005g0146 a0004c0004t0005g0147 a0004c0004t0007g0023 a0004c0004t0007g0078 a0004c0004t0007g0145	11	356	0.0309	0	c.901 others(3): Show c.901C>T	p.Arg others(4): Show p.Arg301*	AKR1E2	ENSG00000165568.18	transcript	ENST00000298375.12	protein_coding	9/10	1019/1613	901/963	301/320		chr10	TogoVar
ALDH3B2_chr11_67657155_67679623	67674435	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.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 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 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 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.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 HG03834.hp1 HG03834.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 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.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 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.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 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0007 a0001c0009 others(23): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0023 a0001c0025 a0002c0002 a0004c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0016 a0011c0014 a0012c0017 a0013c0020 a0014c0019 a0015c0028 a0016c0021 a0017c0027 a0018c0026 a0019c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0002c0002t0002 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0004c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0016t0006 a0011c0014t0017 a0011c0014t0018 a0012c0017t0009 a0013c0020t0001 a0014c0019t0001 a0015c0028t0002 a0016c0021t0001 a0017c0027t0002 a0018c0026t0014 a0019c0018t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0006g0176 a0001c0001t0007g0042 a0001c0001t0009g0126 a0001c0001t0011g0051 a0001c0001t0013g0119 a0001c0001t0015g0117 a0001c0007t0001g0022 a0001c0007t0001g0056 a0001c0007t0001g0059 a0001c0007t0001g0090 a0001c0007t0001g0094 a0001c0007t0012g0098 a0001c0009t0005g0083 a0001c0009t0005g0084 a0001c0009t0005g0085 a0001c0011t0001g0055 a0001c0011t0001g0057 a0001c0011t0001g0058 a0001c0015t0004g0048 a0001c0022t0001g0124 a0001c0023t0001g0145 a0001c0025t0001g0133 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0020g0156 a0002c0002t0021g0160 a0002c0002t0022g0164 a0002c0002t0023g0162 a0002c0002t0024g0191 a0004c0003t0001g0013 a0004c0003t0001g0021 a0004c0003t0001g0036 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0095 a0004c0003t0001g0097 a0004c0003t0001g0100 a0004c0003t0001g0151 a0005c0005t0001g0003 a0005c0005t0001g0035 a0005c0005t0001g0089 a0005c0005t0001g0103 a0006c0006t0001g0005 a0006c0006t0001g0105 a0007c0008t0001g0031 a0007c0008t0001g0060 a0007c0008t0001g0062 a0007c0008t0001g0063 a0007c0008t0001g0064 a0008c0012t0010g0177 a0008c0012t0010g0178 a0008c0013t0008g0065 a0008c0013t0008g0066 a0009c0010t0001g0028 a0010c0016t0006g0049 a0011c0014t0017g0081 a0011c0014t0018g0080 a0012c0017t0009g0115 a0013c0020t0001g0101 a0014c0019t0001g0099 a0015c0028t0002g0159 a0016c0021t0001g0129 a0017c0027t0002g0155 a0018c0026t0014g0082 a0019c0018t0019g0152	372	388	0.9588	0	c.-24 others(6): Show c.-245+1T>G		ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9					chr11	TogoVar
ALG1L2_chr3_130076831_130103390	130096091	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18954.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0004 a0002c0007 others(6): Show a0002c0002 a0002c0004 a0002c0007 a0002c0012 a0002c0015 a0002c0017 a0003c0005 a0003c0011 a0004c0009	a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 others(8): Show a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0002c0017t0001 a0003c0005t0001 a0003c0011t0001 a0004c0009t0001 a0004c0009t0005	a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 others(27): Show a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0004t0001g0007 a0002c0004t0001g0113 a0002c0004t0002g0030 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062 a0002c0015t0001g0087 a0002c0017t0001g0090 a0003c0005t0001g0013 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0011t0001g0032 a0003c0011t0001g0034 a0004c0009t0001g0135 a0004c0009t0005g0040	51	260	0.1962	-1	c.469 others(4): Show c.469delC	p.Leu others(5): Show p.Leu157fs	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	6/8	655/969	469/648	157/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
ALPP_chr2_232373751_232387889	232380430	A A	ACGTGTAT others(43): Show ACGTGTATCTTTCTTAGTTGTGTTTGTCTGACCTTCTTTTTCTGCGTCGT C	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18522.hp2 NA18522.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0026 a0019c0033t0001g0026	1	408	0.0025	50	c.803 others(57): Show c.803_804insCGTGTATCTTTCTTAGTTGTGTTTGTCTGACCTTCTTT TTCTGCGTCGTC	p.Trp others(5): Show p.Trp270fs	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	7/11	856/2754	804/1608	268/535		chr2	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	208	378	0.5503	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75635851	CCCAGT CCCAGT	C C	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show HG00741.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03486.hp1 NA18522.hp1 NA18522.hp2	a0006 a0014 a0022 a0006 a0014 a0022	a0006c0009 a0006c0015 a0006c0034 others(3): Show a0006c0009 a0006c0015 a0006c0034 a0014c0025 a0014c0026 a0022c0030	a0006c0009t0007 a0006c0015t0001 a0006c0034t0003 others(3): Show a0006c0009t0007 a0006c0015t0001 a0006c0034t0003 a0014c0025t0007 a0014c0026t0004 a0022c0030t0007	a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 others(10): Show a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 a0006c0009t0007g0207 a0006c0009t0007g0208 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0015t0001g0022 a0006c0015t0001g0206 a0006c0034t0003g0211 a0014c0025t0007g0249 a0014c0026t0004g0250 a0022c0030t0007g0162	15	370	0.0405	-5	c.768 others(12): Show c.768_772delCCAGT	p.Gln others(5): Show p.Gln257fs	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	7/14	950/2575	768/1587	256/528		chr5	TogoVar
ANKDD1B_chr5_75606453_75676846	75669297	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0007 others(10): Show a0001 a0006 a0007 a0010 a0013 a0014 a0017 a0018 a0021 a0022 a0023 a0025 a0028	a0001c0001 a0001c0019 a0001c0035 others(13): Show a0001c0001 a0001c0019 a0001c0035 a0006c0009 a0006c0015 a0007c0007 a0010c0011 a0013c0016 a0014c0025 a0017c0031 a0018c0020 a0021c0022 a0022c0030 a0023c0033 a0025c0023 a0028c0032	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0019t0001 a0001c0035t0001 a0006c0009t0007 a0006c0015t0001 a0007c0007t0006 a0007c0007t0012 a0007c0007t0013 a0007c0007t0014 a0010c0011t0001 a0013c0016t0001 a0014c0025t0007 a0017c0031t0001 a0018c0020t0014 a0021c0022t0001 a0022c0030t0007 a0023c0033t0006 a0025c0023t0007 a0028c0032t0012	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0006g0082 a0001c0001t0006g0153 a0001c0001t0006g0195 a0001c0001t0006g0240 a0001c0001t0006g0243 a0001c0001t0017g0057 a0001c0001t0018g0121 a0001c0001t0020g0144 a0001c0019t0001g0073 a0001c0019t0001g0074 a0001c0035t0001g0069 a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 a0006c0009t0007g0207 a0006c0009t0007g0208 a0006c0009t0007g0209 a0006c0009t0007g0210 a0006c0015t0001g0022 a0006c0015t0001g0206 a0007c0007t0006g0004 a0007c0007t0006g0155 a0007c0007t0006g0252 a0007c0007t0006g0254 a0007c0007t0012g0253 a0007c0007t0013g0039 a0007c0007t0013g0040 a0007c0007t0014g0154 a0010c0011t0001g0157 a0010c0011t0001g0163 a0010c0011t0001g0193 a0010c0011t0001g0262 a0010c0011t0001g0290 a0013c0016t0001g0032 a0013c0016t0001g0034 a0014c0025t0007g0249 a0017c0031t0001g0158 a0018c0020t0014g0251 a0021c0022t0001g0081 a0022c0030t0007g0162 a0023c0033t0006g0246 a0025c0023t0007g0189 a0028c0032t0012g0194	141	370	0.3811	0	c.143 others(4): Show c.1439G>A	p.Trp others(4): Show p.Trp480*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	13/14	1621/2575	1439/1587	480/528		chr5	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0009g0002 a0001c0001t0013g0144 a0001c0001t0015g0133 a0001c0001t0019g0132 a0001c0001t0020g0055 a0001c0001t0025g0031	113	402	0.2811	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0112 a0001c0001t0003g0179 a0001c0001t0004g0040 a0001c0001t0006g0028 a0001c0001t0006g0110 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0007g0002 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0010g0080 a0001c0001t0010g0125 a0001c0001t0010g0148 a0001c0001t0010g0242 a0001c0001t0010g0247 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0012g0127 a0001c0001t0012g0134 a0001c0001t0012g0152 a0001c0001t0014g0001 a0001c0001t0014g0072 a0001c0001t0014g0090 a0001c0001t0015g0057 a0001c0001t0015g0063 a0001c0001t0019g0170 a0001c0001t0020g0173 a0001c0001t0021g0029 a0001c0001t0023g0059 a0001c0001t0024g0009 a0001c0001t0028g0011 a0001c0001t0029g0255 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0017g0043 a0001c0002t0018g0044 a0001c0002t0022g0067 a0001c0003t0004g0049 a0001c0004t0007g0164 a0001c0006t0006g0178 a0001c0007t0004g0033 a0001c0008t0003g0085 a0001c0011t0002g0143 a0002c0012t0006g0169	173	352	0.4915	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.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 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.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 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.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 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.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 NA18977.hp1 NA18977.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 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.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 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0020t0001 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0004 a0002c0030t0001 a0002c0031t0001 a0002c0032t0001	a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0356 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0039 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0256 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0001g0366 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0255 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0257 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0011t0007g0251 a0002c0011t0007g0252 a0002c0011t0007g0253 a0002c0011t0007g0254 a0002c0012t0005g0034 a0002c0012t0005g0250 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0020t0001g0032 a0002c0021t0001g0309 a0002c0021t0001g0362 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0029t0004g0355 a0002c0030t0001g0335 a0002c0031t0001g0364 a0002c0032t0001g0337	151	438	0.3447	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
ATP8B3_chr19_1777075_1817276	1783028	T T	C C	stop_lost stop_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0006 a0007 a0009 others(8): Show a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0023 a0027 a0028 a0032	a0006c0020 a0006c0032 a0006c0063 others(15): Show a0006c0020 a0006c0032 a0006c0063 a0007c0023 a0007c0038 a0007c0065 a0009c0035 a0009c0058 a0010c0029 a0011c0059 a0011c0060 a0012c0027 a0014c0054 a0014c0071 a0023c0040 a0027c0050 a0028c0046 a0032c0043	a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 others(16): Show a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 a0006c0063t0007 a0007c0023t0007 a0007c0038t0007 a0007c0065t0007 a0009c0035t0007 a0009c0058t0008 a0010c0029t0007 a0011c0059t0017 a0011c0060t0007 a0012c0027t0008 a0014c0054t0007 a0014c0071t0007 a0023c0040t0008 a0027c0050t0008 a0028c0046t0008 a0032c0043t0008	a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 others(25): Show a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 a0006c0020t0008g0373 a0006c0032t0007g0131 a0006c0032t0007g0132 a0006c0063t0007g0038 a0007c0023t0007g0039 a0007c0023t0007g0052 a0007c0023t0007g0110 a0007c0038t0007g0178 a0007c0038t0007g0179 a0007c0065t0007g0138 a0009c0035t0007g0165 a0009c0035t0007g0166 a0009c0058t0008g0374 a0010c0029t0007g0034 a0010c0029t0007g0056 a0011c0059t0017g0076 a0011c0060t0007g0137 a0012c0027t0008g0250 a0012c0027t0008g0261 a0014c0054t0007g0026 a0014c0071t0007g0170 a0023c0040t0008g0263 a0027c0050t0008g0236 a0028c0046t0008g0353 a0032c0043t0008g0247	28	388	0.0722	0	c.390 others(4): Show c.3903A>G	p.Ter others(12): Show p.Ter1301Trpext*?	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	29/29	4142/5095	3903/3903	1301/1300		chr19	TogoVar
AVPI1_chr10_97672424_97692241	97679916	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0007g0167	101	444	0.2275	0	c.-10 others(5): Show c.-10-1G>C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2					chr10	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0002c0003t0001g0048 a0002c0003t0001g0049	80	428	0.1869	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0003c0008 a0003c0012 others(3): Show a0003c0004 a0003c0008 a0003c0012 a0003c0020 a0003c0021 a0006c0007	a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 a0003c0020t0002 a0003c0021t0002 a0006c0007t0001	a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0176 a0003c0004t0002g0177 a0003c0004t0002g0178 a0003c0004t0002g0179 a0003c0004t0002g0180 a0003c0004t0002g0181 a0003c0004t0002g0182 a0003c0004t0002g0183 a0003c0004t0002g0184 a0003c0008t0001g0006 a0003c0008t0001g0027 a0003c0008t0001g0118 a0003c0008t0001g0119 a0003c0008t0001g0120 a0003c0008t0001g0121 a0003c0008t0001g0122 a0003c0012t0002g0070 a0003c0020t0002g0175 a0003c0021t0002g0185 a0006c0007t0001g0005 a0006c0007t0001g0029 a0006c0007t0001g0054 a0006c0007t0001g0123	69	452	0.1527	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
BZW2_chr7_16641181_16711517	16682767	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18967.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0005t0001 a0001c0007t0002	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0115 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0283 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0077 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0337 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0367 a0001c0001t0002g0386 a0001c0001t0002g0400 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0282 a0001c0001t0004g0008 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0153 a0001c0001t0006g0374 a0001c0001t0008g0317 a0001c0001t0009g0112 a0001c0002t0003g0281 a0001c0005t0001g0028 a0001c0007t0002g0336	46	416	0.1106	1	c.340 others(6): Show c.340-3dupT		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	4/11				INFO_REALIGN_3_PRIME	chr7	TogoVar
C12orf60_chr12_14798670_14829415	14823483	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01891.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	68	386	0.1762	-2	c.550 others(9): Show c.550_551delAT	p.Met others(5): Show p.Met184fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	656/1586	550/738	184/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): 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 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.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 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.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 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.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 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.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.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.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.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 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.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 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.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 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(94): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0008t0002 a0002c0002t0004 a0002c0002t0038 a0002c0002t0039 a0003c0003t0012 a0004c0004t0001 a0004c0004t0023 a0005c0006t0002 a0006c0007t0002 a0007c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0047 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0167 a0001c0001t0005g0006 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0044 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0155 a0001c0001t0007g0008 a0001c0001t0007g0105 a0001c0001t0007g0174 a0001c0001t0008g0007 a0001c0001t0008g0033 a0001c0001t0009g0011 a0001c0001t0009g0143 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0010g0055 a0001c0001t0010g0190 a0001c0001t0010g0199 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0232 a0001c0001t0011g0018 a0001c0001t0011g0026 a0001c0001t0011g0076 a0001c0001t0011g0078 a0001c0001t0013g0034 a0001c0001t0013g0101 a0001c0001t0013g0104 a0001c0001t0013g0110 a0001c0001t0013g0113 a0001c0001t0014g0028 a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0015g0015 a0001c0001t0015g0133 a0001c0001t0015g0234 a0001c0001t0016g0022 a0001c0001t0016g0130 a0001c0001t0017g0052 a0001c0001t0017g0207 a0001c0001t0017g0227 a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0018g0072 a0001c0001t0018g0074 a0001c0001t0019g0041 a0001c0001t0019g0116 a0001c0001t0019g0129 a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 a0001c0001t0022g0020 a0001c0001t0023g0042 a0001c0001t0024g0021 a0001c0001t0025g0053 a0001c0001t0026g0093 a0001c0001t0026g0097 a0001c0001t0027g0030 a0001c0001t0028g0031 a0001c0001t0029g0050 a0001c0001t0030g0180 a0001c0001t0030g0182 a0001c0001t0031g0200 a0001c0001t0032g0123 a0001c0001t0032g0124 a0001c0001t0033g0141 a0001c0001t0033g0145 a0001c0001t0034g0046 a0001c0001t0035g0151 a0001c0001t0035g0166 a0001c0001t0036g0043 a0001c0001t0037g0060 a0001c0001t0040g0169 a0001c0001t0041g0177 a0001c0001t0042g0226 a0001c0001t0043g0224 a0001c0001t0044g0212 a0001c0001t0045g0183 a0001c0001t0047g0092 a0001c0001t0048g0178 a0001c0001t0049g0176 a0001c0001t0050g0073 a0001c0001t0051g0077 a0001c0001t0052g0075 a0001c0001t0053g0112 a0001c0001t0054g0111 a0001c0001t0055g0103 a0001c0001t0056g0175 a0001c0001t0057g0107 a0001c0001t0058g0100 a0001c0001t0059g0106 a0001c0001t0060g0102 a0001c0001t0061g0109 a0001c0001t0062g0193 a0001c0001t0063g0208 a0001c0001t0064g0202 a0001c0001t0065g0216 a0001c0001t0066g0191 a0001c0001t0067g0185 a0001c0001t0068g0218 a0001c0001t0069g0205 a0001c0001t0070g0196 a0001c0001t0071g0108 a0001c0001t0072g0206 a0001c0001t0073g0144 a0001c0001t0074g0125 a0001c0001t0075g0235 a0001c0001t0076g0089 a0001c0001t0077g0161 a0001c0001t0078g0088 a0001c0001t0079g0171 a0001c0001t0080g0146 a0001c0001t0081g0120 a0001c0001t0082g0147 a0001c0001t0083g0117 a0001c0001t0084g0118 a0001c0001t0085g0080 a0001c0001t0086g0148 a0001c0001t0087g0135 a0001c0001t0088g0149 a0001c0001t0089g0165 a0001c0001t0090g0119 a0001c0001t0091g0150 a0001c0001t0092g0099 a0001c0001t0093g0152 a0001c0008t0002g0198 a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0066 a0002c0002t0038g0065 a0002c0002t0039g0061 a0003c0003t0012g0009 a0003c0003t0012g0067 a0004c0004t0001g0236 a0004c0004t0023g0237 a0005c0006t0002g0189 a0006c0007t0002g0197 a0007c0005t0002g0068	405	412	0.9830	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	440	0.2136	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190		chr17	TogoVar
C1orf127_chr1_10941475_10987076	10949622	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show HG02056.hp1 HG02145.hp1 HG02155.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0003 a0005 a0009 others(3): Show a0003 a0005 a0009 a0010 a0011 a0012	a0003c0006 a0003c0014 a0005c0008 others(4): Show a0003c0006 a0003c0014 a0005c0008 a0009c0019 a0010c0018 a0011c0020 a0012c0026	a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 others(5): Show a0003c0006t0004 a0003c0006t0012 a0003c0014t0004 a0005c0008t0004 a0009c0019t0004 a0010c0018t0004 a0011c0020t0005 a0012c0026t0004	a0003c0006t0004g0035 a0003c0006t0004g0099 a0003c0006t0004g0114 others(20): Show a0003c0006t0004g0035 a0003c0006t0004g0099 a0003c0006t0004g0114 a0003c0006t0004g0202 a0003c0006t0004g0256 a0003c0006t0004g0326 a0003c0006t0004g0342 a0003c0006t0004g0362 a0003c0006t0004g0369 a0003c0006t0004g0373 a0003c0006t0012g0340 a0003c0014t0004g0097 a0005c0008t0004g0013 a0005c0008t0004g0027 a0005c0008t0004g0033 a0005c0008t0004g0105 a0005c0008t0004g0331 a0005c0008t0004g0332 a0005c0008t0004g0349 a0009c0019t0004g0359 a0010c0018t0004g0335 a0011c0020t0005g0031 a0012c0026t0004g0117	23	390	0.0590	0	c.129 others(6): Show c.1290+2C>T		C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	11/12					chr1	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0011g0040 a0001c0001t0011g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	378	0.2037	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf73_chr2_54325884_54366581	54360200	CAG CAG	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01884.hp2 HG02451.hp2 HG02965.hp2 others(2): Show HG01884.hp2 HG02451.hp2 HG02965.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0022 a0001c0001t0001g0036	5	412	0.0121	-2	c.506 others(9): Show c.506_507delGA	p.Arg others(5): Show p.Arg169fs	C2orf73	ENSG00000177994.16	transcript	ENST00000398634.7	protein_coding	5/5	598/1975	506/864	169/287	INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf52_chr6_10666422_10699616	10694492	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show HG00544.hp1 HG01243.hp2 HG02055.hp2 HG02155.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18966.hp2 NA19000.hp2 NA19043.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 others(1): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002	a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0008 others(20): Show a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0008 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0004g0007 a0002c0003t0004g0040 a0003c0004t0002g0020 a0003c0004t0002g0057	30	282	0.1064	0	c.-12 others(5): Show c.-12+2T>C		C6orf52	ENSG00000137434.12	transcript	ENST00000259983.8	protein_coding	1/4					chr6	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01169.hp2 HG01243.hp2 HG02258.hp1 others(7): Show HG01169.hp2 HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG03225.hp2 HG03516.hp1 HG04115.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0021 a0001c0022 a0001c0024 a0001c0034	a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 a0001c0010t0001 a0001c0021t0002 a0001c0022t0001 a0001c0024t0001 a0001c0034t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0003t0001g0084 a0001c0005t0003g0055 a0001c0010t0001g0065 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0024t0001g0069 a0001c0034t0001g0086	10	87	0.1149	1	c.322 others(6): Show c.322-3dupT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37				INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GTTT GTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00639.hp2 HG01070.hp2 others(17): Show HG00099.hp2 HG00639.hp2 HG01070.hp2 HG01175.hp1 HG02080.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18979.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0018 a0001c0043	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0003 a0001c0018t0001 a0001c0043t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0118 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0082 a0001c0002t0002g0091 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0005t0001g0052 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0092 a0001c0010t0003g0057 a0001c0018t0001g0076 a0001c0043t0001g0051	20	97	0.2062	3	c.322 others(14): Show c.322-5_322-3dupTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37				INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN11_chr6_44153820_44189401	44172317	T T	TGGCTGCC TGGCTGCC	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show HG00323.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01934.hp1 HG02055.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0003g0009 a0001c0001t0003g0037 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0004	21	458	0.0459	7	c.426 others(14): Show c.426_432dupGGCTGCC	p.Ile others(5): Show p.Ile145fs	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	5/23	462/2718	433/2220	145/739	INFO_REALIGN_3_PRIME	chr6	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0012 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0012t0022 a0008c0009t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0193 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0005g0056 a0001c0001t0006g0012 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0188 a0001c0001t0014g0126 a0001c0001t0018g0130 a0001c0005t0004g0048 a0001c0005t0004g0049 a0001c0005t0004g0050 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0197 a0002c0002t0009g0175 a0002c0002t0009g0194 a0002c0002t0009g0195 a0002c0002t0009g0196 a0002c0002t0012g0144 a0002c0002t0012g0160 a0002c0002t0023g0149 a0002c0008t0002g0141 a0003c0003t0008g0022 a0003c0003t0008g0131 a0003c0003t0011g0051 a0003c0003t0011g0052 a0003c0003t0021g0129 a0006c0012t0022g0178 a0008c0009t0002g0142	176	390	0.4513	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12					chr15	TogoVar
CBLC_chr19_44772890_44805652	44793589	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show HG00738.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0002c0007 a0004c0004 others(1): Show a0002c0002 a0002c0007 a0004c0004 a0009c0017	a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 a0009c0017t0001	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0129 a0002c0002t0001g0169 a0002c0002t0001g0183 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0272 a0002c0007t0001g0014 a0002c0007t0001g0044 a0002c0007t0001g0047 a0002c0007t0001g0052 a0002c0007t0001g0058 a0004c0004t0001g0059 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0115 a0009c0017t0001g0116	47	342	0.1374	1	c.125 others(5): Show c.1255dupC	p.Gln others(5): Show p.Gln419fs	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/11	1298/1576	1256/1425	419/474	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCHCR1_chr6_31137439_31162802	31157072	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 others(8): Show a0001c0001 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0025 a0001c0026 a0001c0027	a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0009t0004 a0001c0009t0005 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0006t0001g0014 a0001c0006t0001g0018 a0001c0006t0001g0032 a0001c0006t0001g0117 a0001c0006t0001g0118 a0001c0006t0001g0119 a0001c0006t0001g0121 a0001c0006t0001g0133 a0001c0006t0001g0140 a0001c0006t0001g0141 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0009t0004g0020 a0001c0009t0004g0059 a0001c0009t0004g0060 a0001c0009t0004g0168 a0001c0009t0004g0169 a0001c0009t0004g0170 a0001c0009t0004g0171 a0001c0009t0004g0172 a0001c0009t0004g0173 a0001c0009t0004g0174 a0001c0009t0004g0176 a0001c0009t0005g0061 a0001c0009t0005g0175 a0001c0009t0005g0177 a0001c0011t0001g0021 a0001c0011t0001g0030 a0001c0011t0001g0111 a0001c0011t0001g0112 a0001c0011t0001g0113 a0001c0011t0001g0114 a0001c0014t0001g0013 a0001c0015t0001g0031 a0001c0015t0001g0116 a0001c0017t0001g0053 a0001c0017t0001g0120 a0001c0019t0001g0132 a0001c0019t0001g0138 a0001c0025t0001g0115 a0001c0026t0001g0126 a0001c0027t0001g0145	186	454	0.4097	0	c.234 others(3): Show c.234G>A	p.Trp others(3): Show p.Trp78*	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding	2/18	436/2971	234/2616	78/871		chr6	TogoVar
CD200R1L_chr3_112810711_112851864	112837703	GAAGGTGC others(534): Show GAAGGTGCTGTAAGTTTTCTTCTTTTTAGCTTCTATTTTTGTGTGCTACT AAGAAATCTACATGTTTGCTTTTTGTTGTTGAATTAAATTGAATAAGTCG GTCCTTGCTTGGTCTTCAAGCAATAGTGTGCAGAGAGGTATCTGTTAAAA TTGCACACAGGACAAATGATCATGTAAATGTTTCTGCTGATGATCCAACC CTCCCATCAAACTGGTTATTAAGTAAGTGAGCATTTTACCTTCATTAAGA CGTATTCTCTAACTTTGTATTTCCAGTTGTGTCATCAGACAGGAATTATT ATCTGAGGCTAGAAAATATTTAAAGAAGAAATATGGAGAAAATTAAGAAC TTTTCTTTACTGAAATGGACTAGAATCCACTGATTTCATATAAGATAATC ACAGAAAACAACATTTCAATTCCTTAAATTAATTAATAATCACACCAAAA AAACCTCTACATAAAAGAAATCAGCAGTGAGACCATAACTAGATAAATGC ACGTATGTCAGGATTTTGACATTTCTTTTGTAGTTATGAATA	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show HG01106.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0135 a0004c0005t0004g0015 a0004c0005t0004g0134 a0002c0003t0004g0135 a0004c0005t0004g0015 a0004c0005t0004g0134	7	406	0.0172	-541	c.-86 others(15): Show c.-86-234_-18+238del		CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	3/8					chr3	TogoVar
CD36_chr7_80633642_80684274	80671133	T T	G G	stop_gained stop_gained	HIGH	HG01891.hp2 HG02818.hp2 HG02922.hp1 others(8): Show HG01891.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0025 a0002c0002t0002 a0002c0002t0007 a0002c0002t0025	a0002c0002t0002g0015 a0002c0002t0002g0205 a0002c0002t0007g0048 others(4): Show a0002c0002t0002g0015 a0002c0002t0002g0205 a0002c0002t0007g0048 a0002c0002t0007g0263 a0002c0002t0007g0264 a0002c0002t0007g0278 a0002c0002t0025g0255	11	390	0.0282	0	c.975 others(3): Show c.975T>G	p.Tyr others(4): Show p.Tyr325*	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding	10/15	1263/4598	975/1419	325/472		chr7	TogoVar
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0017 a0006c0015 a0010c0009	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0006t0002 a0003c0013t0001 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0017t0001 a0006c0015t0001 a0010c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0006t0002g0020 a0003c0006t0002g0062 a0003c0013t0001g0054 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0017t0001g0046 a0006c0015t0001g0079 a0010c0009t0001g0003	163	392	0.4158	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0065 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0003t0001g0002 a0001c0003t0001g0040 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0002g0012 a0001c0003t0002g0037 a0001c0003t0002g0066 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0033 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0005t0001g0003 a0001c0005t0001g0015 a0001c0005t0001g0023 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0062 a0001c0006t0001g0018 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0007t0002g0034 a0001c0007t0002g0070 a0001c0009t0002g0073 a0001c0010t0002g0075	211	404	0.5223	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CELA3B_chr1_21972022_21994354	21986630	AGGAAGCC others(7717): Show AGGAAGCCCACGGTGTTCACTCGAGTCTCCGCCTTCATTGACTGGATTGA GGAGGTGAGGAGGGCAGGGCGGCCCGGAGGGCTTTAGGGTGGTGGCTCTT CTGAGAGGTGACAGGTGAGAAACATCGGATCCTGGGGAGGGCCTGAAAGG ATCCTAGAAGCTCAGTGGGGAAGGGCCCTTGGGGACATTCCAGAAAGGCT TGGGGATGTTTTCTGATACAGTGTGACCCCAGGAACTTGATGGCTTCTGG GTGGTGCTTGGAACTACAGCTGAACTTCCTTATTTCAACAAGTATTTATA AAGTATCTCCTCTGGTCTTGTCCTCTCTTGTCAGGGAGGATAGAGAGACA TGCCAGACAAGAGGCTGCCTGGTGGGGGACAGGTGATTACATGAATGAGA ACGATGCAGTCTGATGAGAGCCGAGAGAGGGGAGTCCAGGCCCCAGACTT CATCTGGGGATGGGTGATCAGAGAGGACTAATAACACTCCTGATAACAGT AATAGCTAAACAAAAAAAAAAAAGAAAAAAAAAAAGAGTAATAGCTGGGC ATGGAGTAGTCATGCCAGTAATCCCAGCACTTTGGGAAGCAGAGGCAGGT GGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACC CTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGTGCCT GTAATCCCAGCTGCTCGGGAGGCTGAGGCAGAGAACTGCTTGAACCTGGG AGACGGAGGTTGCAGTTAGTCGAGATCATACCACTGCACTGCAGCCTAGG TGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGTAATAGCT AGCTGGGTGCAGTGATGCCCACCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGGATCGGTTGAGCCCTGGAGTTCTGGGCCATAGTGCGCTATAC CCATCTGGTTCTGCACCAAGTTTGGCATCCATGTGGTGACCTCCTGGGAG TGGGGACCACCAGGTGGCCTAAGGAGGGGTGAACTGTCCCAGGTCAGAAA CAGAGCAGGTCAAAACTCACATGCTGAAAAGTAGTAGGATCACACCTGTG AATAGCCACTGTACTCCAGCCTGGGCAACACAGCAAGAGCCTCTCTCTTA AAAAAATGAAAATAAACTAAATAAAATAAAACAGTAGTGCTTGCTTTGGC AGCACATGTACTAAAATTGGAATGATATAGAGATTAGCACGGCCCCTGCG CAAGGATGACATGCAAAGTCATGAAGGCTTCCATTAAAAAAACATTTCTG GCCAAGTACAGTGGTTCATGCATGTAATCCCAGCACTCTGGGAGGCCGAG GCGTATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCGACATG GTGAAACCCCATCTCTACTAAGAATACAAAAAATTAGCCGGGCGTATTGG TGCATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCT TGAATCTGGGAGGCGGAGGTTGCAGTGCGCCGAGATTACGCCACTGCACT CCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAACAAAAACAAACAA ACAAACAAAAAAACAGTGATGATTTATAGACCATTTAATCCCTTGGTTCC CTGACCCATGTTAAAAAAATATATATATAAGGCCAGGCACGGTGGCTCAT GCCTGTAATCCCAGCAATTTGGTAGGCCGAGGCAGGCAGATCATAAGGTC AGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAATCCTGTCTCTACAAA AATATAAAAAAATTGGCTGGGCGTGGTGCTGCATGGCTGTAATCTCAGCT ACTTGGGAGGCTGAGGTAGAAGAATTGCTTGAACTCGGGAGGCAGAAGTT GCAGTGAGCCAAGATTGCACCACTGCCCTCCAGCCTGGGCGACAGAGCAA GACTCCATCTTAAAAAAAAAAAAAAAAAAAAGCCGGGCATGGTGGCTCAT GCCTGTAATCCCACCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTC AGGAGATTGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAA AAATACAAAAATTAGCCAGGCATGGTGGCGTACGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGTGGAGGTTG CGGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCTGTCTCAAAAAGAAAAAAAACTCCAAAAATATATATTTTGTTTATA TACATACATACATACATACATATATATACACACACAGACGTATATATATA CACACACACACATATATATGTATATATATCTATGCACACATCCCATCTAA ATTCATGCTGGCCATTGTAGAGAGAACCTTAGTTAACAATTTAATCAAGA ACCCCCCCATGAGGTAAGTTCTATCATTATCCCTACTACATAGAGGAGGA AACTGAGGCTCAGAGAGGTCAATTCCTCTCCCAGGGTCACACAGCAGGGC TGGAAGTTGAACCCAGTTTCATCTGACTCCAGAACCTGTGCTCCTAAATT GACTATTCTGTCTGCCCCCCCAACTTTTCCAGACCATAGCAAGCCACTAG AACCAAGGCCCAGCTGGCAGTGCTGATCGATCCCACATCCTGAATAAAGA ATAAAGATCTCTCAGAAAATTCCAAGTTGAATCTTTCTTTCTTTGTTGAC TCACCTCTTCCCCTCTGGCCTGTTCCTAAAATCTTAGATCTCATATGCAG AGACAGGACCAGGTCCAACCCTTTCATACGAAGATGAGGGAAAAATGATG CTGGGAGAGAAGGGAGTTGCTGTGCGGTGACCTGACCATCCTGGTTTGCC TGGAACTTCAGGAGTGAAGACACTGGACATTTAATGCTAAAACTGGGAAG GTACCAGGAAAAATGGGACAAGTTGGTCGCCTTAGTATATAGTCGCACAT AAGTCAGTAGCTTTTCAATGCAGGCATATAAACATGGTAAAAATCTGCAG ATAAACAGACCCTGCCAGCCCCTCAGCAGGCTCATGGTAGAGTGGGAAGG ACAATGTGTGATCTGCTTCCACTGATGGGCTGGGGGCTTTGGTTATTCAT TCATTCAACAAACACTTATTCCTTGTTTTAAAGGAGGGCTCAGAGGGGTA AGGAGACATGGTTCCTGCCCTGAAGTGACTCATTATTTAAAGATAGCTCT CTTAGTCTGTGTTCATACTGCTATAAAGAACTGCCCGAGACTGGGTAGTT TATAAAGGAAAGAAGTGTAATTGACTCACAGTTCAGCATGGCTGGGGAGG CCTCAGGAAACTTAAAATCATGGTGGAAGATGAAGGGGAAGCAAGGGACC TTCTTTACAAGGTGGCAGGAAGGAAAATTGCCTAGCAAAGGGGGAAGAGC CCCTTATAAAACCATCAGATCTGGCGAGAACTCACTCACTATCATGAGAA CAGCATGGGGGAACCGCCCTATGATTCAATTACCTTCTCCCTTGACACAT GGCGATTATGGGGATTACAATTCAAGGTGAGATTTGGGTGGGGACACAAA GCCTAACCATGTCATGAGCATATCACGGTCATTCATTAAACATGTATTAG GTACCTGCCTTGTGGCAAGTTCAGGGCTGGAAAAACAGAGACAAGTCAGG CAACCCTAGGAAGAGCCCTTACTGAAGGGGGGAGAAGACACACACACAGG TACACAGGTATACACACACAGGTACACACAATGCTGCGCACGAGCCCAGA GCCAGCAAACAGTTGAGTTTTGAAAGGAAGAACGCTGGCCAGGTGCAGTA GCTCATGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTAGATCAA CTGAGGTCACGAGTTCGAAACTCCTTCTTAAAAAAAAAAAAGAATGCTGT TACACAGACAAAAGCAACATAAAACAAGGGAGTCTGGCTGGGCCTGGTGG TTCATACTTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGTGGATCACT TGAGCCCACGAGTTTGAGACCAGCCTGGGAAACATGGTAAAACCCCATCT CTACAAAAAACATAAAAATTAGCCAGGTGTGGTGGTGGGTACTTGTAGTC CCAGCTACTCGGAAGACTGAGGTGGAAGAATCACTTGAGTCCAGGAGGCA GAAGCTGCAGTGAGCTGAGACTGTGACACTGTACTCCAGCCTGGGCACAG AGCAAGACTCTGTCTGAAAAAAAAAAAAAAAAAAATTCAACGGAATCTCT TTCCTCATATTTCTCTTTGAACACCATGAAAGGGAAGATTGTCCCAGCAA GGACACACACAAATGACTTTGATATTAATGGCCCATTTGTAGCCTCCCTT TATACTTTCAGCTACAACTGAAAAAGATGCAACATAGAGAATAATATAGC AGAGACTCAGATAGGTATCCTCCCTTCAGAATTAACAAATTTCACATTTT GCTTCATATTCTAAAAAATATTAATTACAATCATTCACTAAAAAAAATCA AGAGATCTATAATTTTTTAGATCCAGCCTGTCACCCAGGCTGGAGGGCAG TGGCACAATCCTGGCTCGCTGCAACCTCCGCCTCCCAGGTTCAAGCGATT CTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGTCACCCACCACCAT GCCTGGCTTATTTTTTTTGTTTTTGAGTTGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTACAATGGTGTAATCTCAGCTCACTGCAACCTCTGCCTCCCG GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGG CGCATGCCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGT TTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCA CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGC CGGGCCAGGATCTATAAATTTGGAAAGGAGATTTTATATCTTATAAAGGG TTATAGCCTGCATGGTGGCCATGCTGACAGGCTGGGAAGTGTAGCCTCCT GCAGAGATCAGAAACAGGCACTCCAAAGGAGGAGGGATTGAAGTGGAAGC TTGAAGCTGAAAGAGTTGGCTAAACATACATATTCAACAGGTTATAGAAG GAGCTGTGGGCTGGGCGCAGTGGCTCATGCCTGTCATCCCAGCACTTTGG GAGGCTGAGGCCAGTGGATCACTTGAGGTCAGGACTTTGTGACCAGCCTG GCCAACATGGTGAAGCCCCGTCTCTACTAAAAAATACAAAATTAGGCAGG TGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATTGCTTGAAACTGGGAGGCAGATGTTGCAATGAGCTGAGATCATGCC ATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGTTTCAAAAAAAAA AGAAGGAGCTGTAAATATTAACAAAGGGGGTCCTGACACATGTGTACTGA ACAAACGTATGTTACATGTGTCCCATGTTCACTGTGGGGTGGAGACTTGA CATTTAAATGCATTACTGCTGGGCATGGTGGCATGTGCCTATAGTCCCCG CTACTCAGGAGGTGGAGACAGGAGGGTAGCTTGAAGCTAGGAGTTCAAGG CTGCAGTGCACTATGGTCGCACCTGTGAATAGCCACTGCACTCCAGCCTG GACAACATAGTGAGACCCCACCTCTTTAAGCATGACAACAAGACCCTGTG CATCAAAAGGTGAAGCAGGAACATGAAGGTACTCAAGTGCAGCTTCTGTA AACCAGACAGAACCAGTCCGTGGTCTGTGGTCTTCTTATCAGGAGAAAGT TACTGAAATCTGTGTCCTTACCAATCAAAGCTGGAGTTATGGCTTTGGAG CAGGAGCAGGGGGTGTGTTAGGGTCTGGTGGTGGATGAGCTGCAGTTGTT TTAATATTATTGATCTCAAGGCCAGTGCTTGTTGAGCTGCTAGAGAAAAG GAAAAATCTCAGGCAGCTGGGAACGGTGGCTCATGCCTATAATCCCAGCA CTTTGGGAGGTTAGGGTAGGAGGACTGGAGGACTGCTTGAACCCAGGGGT TTGAGACCAGCTTGGGCAACATGGCAAAACCCCATCTTAGCTGGGTGGTG TGACACATGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGTGGGAAGATC ACTTGAGCCCGAGAGGTTGAGGCTGCAGTGAGCTGTGATTGCACCACTGT ACCACTCCAGCCTGGGTGACAGATTGAGACCTTGTCTCCAAAAAAAAAAA AAAGAAAGAAAAATCTTGTGGCAGTTAGAACATAGTTCTAATGGCAGGAT GTCCAGGTGTCCTGATACCACATCACAATATCCGCTTTTAAGACAGTTAC AGTCATGCTTTGATGTATTTCCGCACTAAAATACCAAGGATAATTTTCTT TAAATCAACAAAATACTAAATTTTCTTTTAAAAAGGTTATTGTATTTATG GCTGGGCACTGTGACTCATGCCTGTAATCCCGGCACTTTGGGAGGCTGAG GCAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATG GCGAAATCCCGTCTCTAATAAAAATACAAAAAATTAGCTGAGCATGGTGG CGCGTGCCTGTAATCCCAGCTACTTTGGAGGCTGAGGTGGAAGAATTGCT TGAACTTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACT CCAGCCTGCACAACAGAAAGGACCTCCTCTCCAAAAAAAAAAAAAAAAAA GAAGAAGAAAAGAAAAGAAATTGTATTTGTTCATTTATTTTTCAAAGCCA AATACTTCTGAATTTCTTTAAAAAAAATTTTTTTCTACGCAGTCTCGCTC TGTTGTCCGGCTGGAGTACAGTGGCCCCATCACTGCTCACTGCAGCCTTG ACCTCCCGGGCTCAAGTGATCCTCGCACCTCAACCTCCCAAGTAGCTGGG ACTACAGGTGCATGCTACCATGCCCAGCTAATTTTTGTATTTTTTTGTAG AGATGGGGTTTCACCCCATTGCCCAGGCTGGTCTTGAACTCCCAGGCTCA AGTGATCCACCTACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAG CCACTGCACCTGGACTCAGATTTTGTCTTTCTTGAAAACCTCCTTCGACC TCAGCCCATCCGCTCCTCCACTGCCCCCACCCTGGTTACCTGGAGAACCT CTGCAGAACCCACACTAGCCTCCCTGATGGCATTCTGGCTCCTCTTCAAA CCGTTTCCCACTCAGCAGCCAGAGACATGCTTCAAGACATAAGCTGGATC ATGTTCTCCTGTGGAAAACCCTTCAAAGGCCTCCTGTGGCCTTGTGTGCC TGCCCTGCAGGAATCTCCAGCCCCACTTCTCTGCTCCCATCCCAGAGAAG CTCCAGTCCTTAGATTTATTCCTTGCTGTATCGTGGCTGGGCAGGGGCAG GCTGGATTTCCCAGGCACCTATGACAGCAGGCTTCTCCCACTTCCAGTGG GAGATTGAAAGGCTGGAGGGAGAGAGAAACCTCCCTCCTATCCTCCAAAA GGTACTTCTCTCCCTACACTTCCTCCACTGCTCCCACCAGACATGCCTGG GCTGGGCCCAGCTTTGGCGAGGTGA	A A	exon_loss_variant exon_loss_variant	HIGH	HG01243.hp1 HG02257.hp2 HG03098.hp1 others(2): Show HG01243.hp1 HG02257.hp2 HG03098.hp1 HG03139.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0027 a0004c0005t0002g0130 a0004c0005t0002g0131 a0004c0005t0002g0027 a0004c0005t0002g0130 a0004c0005t0002g0131	5	442	0.0113	-7724	c.743 others(9): Show c.743_*5075del		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	8/8	761/906				chr1	TogoVar
CEL_chr9_133056981_133076861	133071304	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show HG00735.hp2 HG02165.hp2 HG02602.hp1 HG03209.hp1 NA18522.hp1 NA18998.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0002t0001g0024 a0002c0004t0001g0037	7	380	0.0184	-98	c.181 others(107): Show c.1810_1907delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTC CGGGGCCCCCCC	p.Val others(5): Show p.Val604fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1832/2381	1810/2262	604/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp1 HG03654.hp2 HG03688.hp2 NA18522.hp2 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18984.hp2 NA18987.hp2 NA19006.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19090.hp1 NA20752.hp2	a0001 a0008 a0017 a0001 a0008 a0017	a0001c0001 a0001c0002 a0008c0020 others(1): Show a0001c0001 a0001c0002 a0008c0020 a0017c0018	a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 a0017c0018t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(13): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0008c0020t0001g0002 a0017c0018t0001g0045	38	397	0.0957	1	c.196 others(10): Show c.1965_1966insC	p.Ala others(5): Show p.Ala656fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1988/2381	1966/2262	656/753		chr9	TogoVar
CEP89_chr19_32870925_32976958	32879164	A A	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18944.hp2 NA18949.hp2 NA18955.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA19003.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19083.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0004c0007 a0009c0012 a0004c0005 a0004c0007 a0009c0012	a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 others(7): Show a0004c0005t0005 a0004c0005t0014 a0004c0005t0015 a0004c0005t0022 a0004c0005t0024 a0004c0005t0025 a0004c0007t0004 a0004c0007t0023 a0009c0012t0004 a0009c0012t0021	a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 others(46): Show a0004c0005t0005g0099 a0004c0005t0005g0100 a0004c0005t0005g0101 a0004c0005t0005g0102 a0004c0005t0005g0103 a0004c0005t0005g0104 a0004c0005t0005g0105 a0004c0005t0005g0107 a0004c0005t0005g0109 a0004c0005t0005g0111 a0004c0005t0005g0113 a0004c0005t0005g0114 a0004c0005t0005g0117 a0004c0005t0005g0118 a0004c0005t0005g0119 a0004c0005t0005g0121 a0004c0005t0005g0122 a0004c0005t0005g0166 a0004c0005t0005g0268 a0004c0005t0005g0269 a0004c0005t0014g0115 a0004c0005t0014g0116 a0004c0005t0015g0108 a0004c0005t0015g0123 a0004c0005t0022g0081 a0004c0005t0024g0112 a0004c0005t0025g0110 a0004c0007t0004g0080 a0004c0007t0004g0275 a0004c0007t0004g0276 a0004c0007t0004g0277 a0004c0007t0004g0279 a0004c0007t0004g0280 a0004c0007t0004g0281 a0004c0007t0004g0282 a0004c0007t0004g0283 a0004c0007t0004g0284 a0004c0007t0004g0285 a0004c0007t0004g0286 a0004c0007t0004g0287 a0004c0007t0004g0288 a0004c0007t0004g0289 a0004c0007t0004g0290 a0004c0007t0004g0291 a0004c0007t0004g0292 a0004c0007t0004g0294 a0004c0007t0023g0295 a0009c0012t0004g0065 a0009c0012t0021g0017	49	384	0.1276	0	c.235 others(4): Show c.2350T>C	p.Ter others(11): Show p.Ter784Glnext*?	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	19/19	2434/5673	2350/2352	784/783		chr19	TogoVar
CES5A_chr16_55841154_55880373	55869642	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show HG01168.hp1 HG02109.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 NA18522.hp2	a0007 a0011 a0007 a0011	a0007c0020 a0007c0021 a0007c0068 others(6): Show a0007c0020 a0007c0021 a0007c0068 a0007c0069 a0007c0070 a0007c0071 a0011c0026 a0011c0047 a0011c0048	a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 others(7): Show a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 a0007c0068t0004 a0007c0069t0003 a0007c0070t0005 a0007c0071t0004 a0011c0026t0001 a0011c0047t0002 a0011c0048t0001	a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 others(11): Show a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 a0007c0021t0001g0356 a0007c0021t0001g0357 a0007c0021t0001g0362 a0007c0068t0004g0131 a0007c0069t0003g0104 a0007c0070t0005g0155 a0007c0071t0004g0108 a0011c0026t0001g0240 a0011c0026t0001g0298 a0011c0047t0002g0307 a0011c0048t0001g0235	14	448	0.0313	0	c.520 others(3): Show c.520C>T	p.Gln others(4): Show p.Gln174*	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/13	672/2177	520/1728	174/575		chr16	TogoVar

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