Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
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
ACSM3_chr16_20759014_20802581	20790685	C C	G G	stop_gained stop_gained	HIGH	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0027 a0004c0013t0001g0027	1	354	0.0028	0	c.132 others(4): Show c.1323C>G	p.Tyr others(4): Show p.Tyr441*	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	10/14	1486/2533	1323/1761	441/586			chr16	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
ADAMTS7_chr15_78754206_78816464	78767018	G G	A A	stop_gained stop_gained	HIGH	HG01358.hp1 HG01358.hp1	a0043 a0043	a0043c0118 a0043c0118	a0043c0118t0001 a0043c0118t0001	a0043c0118t0001g0136 a0043c0118t0001g0136	1	378	0.0026	0	c.289 others(4): Show c.2893C>T	p.Arg others(4): Show p.Arg965*	ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	19/24	3137/5520	2893/5061	965/1686			chr15	TogoVar
ADGRV1_chr5_90553797_91169437	90756446	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show HG00621.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18980.hp2 NA18990.hp1 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp1 NA19082.hp1 NA20300.hp1	a0001 a0005 a0014 others(16): Show a0001 a0005 a0014 a0018 a0020 a0024 a0028 a0029 a0036 a0038 a0044 a0047 a0049 a0054 a0060 a0065 a0069 a0071 a0074	a0001c0001 a0001c0008 a0005c0006 others(19): Show a0001c0001 a0001c0008 a0005c0006 a0014c0011 a0018c0047 a0018c0052 a0020c0065 a0020c0066 a0024c0099 a0028c0062 a0029c0080 a0036c0032 a0038c0085 a0044c0061 a0047c0043 a0049c0059 a0054c0048 a0060c0097 a0065c0053 a0069c0064 a0071c0074 a0074c0076	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0005c0006t0002 a0014c0011t0001 a0018c0047t0003 a0018c0052t0003 a0020c0065t0002 a0020c0066t0003 a0024c0099t0001 a0028c0062t0001 a0029c0080t0001 a0036c0032t0001 a0038c0085t0002 a0044c0061t0001 a0047c0043t0001 a0049c0059t0001 a0054c0048t0003 a0060c0097t0001 a0065c0053t0001 a0069c0064t0001 a0071c0074t0003 a0074c0076t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0008t0001g0038 a0001c0008t0001g0106 a0001c0008t0001g0140 a0005c0006t0002g0076 a0005c0006t0002g0083 a0005c0006t0002g0092 a0005c0006t0002g0093 a0005c0006t0002g0094 a0014c0011t0001g0045 a0014c0011t0001g0046 a0018c0047t0003g0013 a0018c0052t0003g0014 a0020c0065t0002g0033 a0020c0066t0003g0019 a0024c0099t0001g0001 a0028c0062t0001g0032 a0029c0080t0001g0011 a0036c0032t0001g0135 a0038c0085t0002g0084 a0044c0061t0001g0043 a0047c0043t0001g0027 a0049c0059t0001g0059 a0054c0048t0003g0065 a0060c0097t0001g0147 a0065c0053t0001g0017 a0069c0064t0001g0031 a0071c0074t0003g0156 a0074c0076t0001g0020	44	156	0.2821	1	c.115 others(8): Show c.11581-3dupC		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	55/89					INFO_REALIGN_3_PRIME	chr5	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
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
ANKRD36C_chr2_95844548_95996824	95918788	GTTAGATA others(1872): Show GTTAGATATTGAGCAGTTTTTCATTCAGAAATCACTGCAATATTCATTGA AAATGACCATTTTAGGAGTTAATTAGAATTCAACATAATTTTTGTTTCTA AAACATGATACTTCTTGGGAGTATCATGTTAGTCTCTAAAGAAGTTTCAT GAAATAGCTATTTCACCCAAGAGGTAGCTCCTGGAACAAGGAAGCCAATG TATTCATATTCAAGTTTATCTCATTTTTATAAGTAAAGTCAACAAAACAT GTATCTCTGATGCCTAATAGTAACAAAAAGGAGTAATGAGTCAGTGTGCT TTATCCCAATTCTAGCATTGTTTCCTGCTTCCAGTAGTTCCTGGAGCTGC CAAAATCAAATATTTTTTAAGCACATATTCCAAATGCAAGTGAAGTGAGT TCACTCAGATTTCCTCAGCAGAAACCCCTAAATTATATAAATAACTTCTT TTCCCTCCTTCCTGCCTGACAATCCATCATCCTTGGGAAAATAATTGCTA CATCAGGGGTCTCCTTAGTTCTCCTTCTACAGTGTCTATAGGTTATTAAT ATCAGTTTTCTGTCTTTTCTTAGCAGTACGATGTGACGTCTGTAAAATCT GTACTTCCTCTCTTTCTCCTTCCACCCTTAGTGAAACCATGCTGTAGAAT TAATGCAAAACTATGCTGTTCCCCAGAACCCCTTATGTCTTGAACTGCTC TCCCTATTTCTTCTTCCCAATTTCAATGTGGGAAAGTGTATAATCTTACT GCAAAGATCATGTTCCAGGCCAACAGCATTAGCGTCTCCCAAGAAATTTA TTACAAATGAAAAATCTCAGGCCTGCTGAATCAGAATGTGCAGCTTCGGC GACTCCCCCCACCCACCCTCCGCTGATTTATTCGGGATAGAGAAGTTCTT TTTTATCTGGATTGAACATGACATTGAATGTGTTTTGCAAATTACCTGTC TCAGATTTTTCTCCATCCTTTATTTCTGTGGCTATATTCAAAACAGAATC TTCCTCGTCAGTTGTAGCCTGAATGGAATTTGAAAGAAAATAATAAATAA ATAAATCAATGAAGTATGTGTCATAGACTACAATGTAAATGAGAGTTTAA TTACCTTCAAGGCTGGTTGTTTCTGAGAAGACACTGAAAAGCAAAAGGGA TACATAATCACTCATATATAAATATGATAAAGTTATCCATACATTCACAC AGTGTTAGCATCAAGCTGTATCCTTCTGCCTGTACTAGTGTAGGCTCTGA TGTCTTCTACTTTGTGTCTTGGGACTGGAACATGACAGAAATACACTGGT AAGAGGGAATACAGGCTCCATCAAATATATCCTTACAATTTCAAACATGG TATGATTCATCATACGTCAAAAACTAAAATAAAACCGTGTCAATATCAAC GTGGATATGCCGAGTGATGAGGACAAACTGATCTAAAATCGGAGGAGCAA CTCATACACGTGAGAATCAATGTCAAAGCAGGTGCTACATGATCCCACAT GTCTTTCGTGCAACAAATCAAAAGAATTTACATCATTATACTACAAACAT TCATCATGCTCTTTAACTTGCCCAATAACTGAGAAGGCACACAGTTACCA TGGCACTTCAGTTGAATGTACACTTCACATCCCCTTCAGTGGAAGTGTCC TAAATTGATCACCTTGGATATCTGTTTGCTGATACCTAGTAGATAATATT CATTATCTCTCACACCCATGTGGTGTAATAATTTGCCTAAGTTTCTTGTA TCCACTAGTTTATCCCTCTGAAACTTTCTTCATCATGTCATGGCACCAAA GGATAATATATTAGCCTCAATAAAAATATCATCAACTATCAATTTTGACA TACTTCTACAAAGTAAAACTGCTACAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0007 a0014 others(3): Show a0002 a0007 a0014 a0023 a0024 a0025	a0002c0004 a0002c0005 a0002c0007 others(13): Show a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0002c0012 a0002c0013 a0002c0019 a0002c0020 a0002c0025 a0007c0031 a0007c0032 a0007c0035 a0014c0018 a0023c0034 a0024c0030 a0025c0033	a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 others(13): Show a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0002c0012t0001 a0002c0013t0001 a0002c0019t0001 a0002c0020t0001 a0002c0025t0001 a0007c0031t0001 a0007c0032t0001 a0007c0035t0001 a0014c0018t0002 a0023c0034t0001 a0024c0030t0001 a0025c0033t0001	a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0179 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0186 a0002c0004t0001g0187 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0199 a0002c0004t0001g0211 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0231 a0002c0004t0001g0233 a0002c0004t0001g0234 a0002c0004t0001g0245 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0267 a0002c0005t0001g0181 a0002c0005t0001g0185 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0200 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0217 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0235 a0002c0005t0001g0239 a0002c0005t0001g0240 a0002c0005t0001g0241 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0265 a0002c0005t0001g0268 a0002c0007t0001g0006 a0002c0007t0001g0201 a0002c0007t0001g0202 a0002c0007t0001g0203 a0002c0007t0001g0206 a0002c0007t0001g0207 a0002c0007t0001g0208 a0002c0007t0001g0209 a0002c0007t0001g0210 a0002c0007t0001g0227 a0002c0007t0001g0255 a0002c0007t0001g0256 a0002c0007t0001g0257 a0002c0007t0001g0258 a0002c0011t0001g0005 a0002c0011t0001g0204 a0002c0011t0001g0205 a0002c0012t0001g0180 a0002c0012t0001g0194 a0002c0012t0001g0195 a0002c0012t0001g0228 a0002c0013t0001g0191 a0002c0013t0001g0192 a0002c0013t0001g0262 a0002c0019t0001g0189 a0002c0019t0001g0249 a0002c0020t0001g0218 a0002c0020t0001g0238 a0002c0025t0001g0008 a0007c0031t0001g0237 a0007c0032t0001g0236 a0007c0035t0001g0193 a0014c0018t0002g0232 a0014c0018t0002g0264 a0023c0034t0001g0266 a0024c0030t0001g0216 a0025c0033t0001g0172	101	296	0.3412	-1879	c.224 others(17): Show c.2246-747_2348-747del		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	36/88						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97188507	GGTGAGAG others(1883): Show GGTGAGAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCA AGGTGATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTATACGTTC AACTGAATTGTCGTGGTAACTGTGTGCCTTCTCAGTTATTGGGCAAGTTA AAGAGCATGATGAATGTTTGTAGTACAATGGTGTAAATCCTTTTGATTTC CTGCATGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTC TCACATGTATGAGTTGCTCCTCTGATTTTAGATCACTTTGTCCTCATCAC TCGGCATATCCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACAT ATGACGAATCATACCATGTTTGAAATTGTAAGGATATATTTCATGGAGCC TGTATTCCCTTTTACCAGTGTATTTCTGTCATGTTCCAGTCCCAAGAGAC AAAGTAGAAGACATCAGAGCCTACACTAGTACAGGCAGAAGGATACAGCT GGATGCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATAT GAGTGATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAGCAACCA GCCTTGAAGGTAATTAAACTCTCGTTTACATTGTGAACTAGTAATTCTAT AGTCTATGAAACATACTTCATTGATTTATTTATTTATTATTTTCTTTCAA ATTCCATTAAGGCTACAACTGACGAGGAAGATTCTGTTTCGAATATAGCC ACAGAAATAAAGGATGGAGAAAAATCTGGGACAGGTAATTTTGCAAAACA CATTCAATGTCATGTTCAATCCAGATAGAAAAGAACTTCTCTACCCCGAA TAAATCAGCGGAGGGTGGGTGGGGGGCTCGCCTAATCTGCACATTCTGAT TCAGCAGGCCTGAGAGTCTTCATTTGTAATAAATTCCTGGGTGACGCTAA TGCTGCTGGCTTGGAACGTGATCTTCGCAGTAAGATTATACACTTCCCCA CATTGAAATTGGGAAGAAGATACATGGAGAGAGGTTCAAGACATAAGGGG CTCTGGGGAACAGCATAGTTTTGCTTTAATTCTACAGCATGGTTTCACTA AGGGTGGAAGAAGAAAGAGAGGAAGTATAGATTCTACAGACGTCACATAG TACTGCTAAGAAAAGACAGAGAACTGATAGTAATAACCCATAGACACTGT AGAACGAGAACTAAGGAGACCCCTGATGTAGCAATTATTTTCCCAAGGAA GATGGATTGTCAGACAGGAAGGAGGGAAAAGAAGTTATTTATATAATTTA GGGGTTTCTGCTGAGGAAATCTGAGTGAACTCACTTCACATGCATTTGGA ATATGTGCCTAAAAAATATTTGATTTTGGCAGCTCCAGGAATTACTGGAA GCAGGAAACAATGCTAGAATTGGGATAAAGCACACTGACTCATTACTCCT TTTTGTTACTATTAGGCATCAGAGATACATGTTTTGTTGACTTTACTTAT AAAAATGAGATAAAGTTGAATATGAATACATTGGCTTCCTTGTTCAAGGA GCTACCTCTTGGATAAAATAGCTATTTCATGAAACTTCTATAGAGAACAA CATGATACTCCCAAGAAGGCTATTTTAGAAACAAAAATTATGTTGAATTC TAATTAACTCCTAAAATGGTAATTTTCAATGAATATTGCAGTGATTTCTG AATGAAAAACTGATTAATATCTAATGCTTGTAGCAGTTTTACTTTGTAGA AGTATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTGATATATT ATCCTTTGGTGCCACGACTGGATGAAGAAACTTTCGGAGGGATAAACTAG TGGATACAAGAAACTTAGGCAAATTATTACAACACATGGGT	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02897.hp1 HG03225.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18972.hp1 NA18973.hp1 NA18991.hp1 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19074.hp1 NA20905.hp1	a0002 a0007 a0013 others(4): Show a0002 a0007 a0013 a0020 a0025 a0026 a0027	a0002c0002 a0007c0007 a0007c0027 others(5): Show a0002c0002 a0007c0007 a0007c0027 a0013c0013 a0020c0044 a0025c0043 a0026c0041 a0027c0023	a0002c0002t0001 a0007c0007t0001 a0007c0007t0006 others(6): Show a0002c0002t0001 a0007c0007t0001 a0007c0007t0006 a0007c0027t0001 a0013c0013t0001 a0020c0044t0001 a0025c0043t0001 a0026c0041t0001 a0027c0023t0001	a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0202 a0007c0007t0001g0008 a0007c0007t0001g0009 a0007c0007t0001g0010 a0007c0007t0001g0011 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0006g0142 a0007c0027t0001g0169 a0013c0013t0001g0146 a0013c0013t0001g0150 a0013c0013t0001g0151 a0013c0013t0001g0152 a0020c0044t0001g0130 a0025c0043t0001g0167 a0026c0041t0001g0165 a0027c0023t0001g0157	47	209	0.2249	-1890	c.214 others(17): Show c.2144-494_2246-496del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	33/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMS2_chr10_122449653_122462352	122454839	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02602.hp1 HG02970.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18959.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007	a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 a0003c0003t0002g0012 a0003c0003t0004g0003 a0003c0003t0005g0003 a0003c0003t0007g0003	61	422	0.1446	0	c.112 others(3): Show c.112C>T	p.Arg others(3): Show p.Arg38*	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	1/2	187/818	112/324	38/107			chr10	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
BOC_chr3_113206557_113292459	113216267	TAGA TAGA	T T	splice_donor_variant others(2): Show splice_donor_variant 5_prime_UTR_variant intron_variant	HIGH	HG01081.hp1 HG01256.hp2 HG01358.hp1 others(9): Show HG01081.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp2 HG02896.hp2 NA18961.hp2 NA18972.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0012c0026	a0001c0001t0013 a0001c0002t0020 a0001c0002t0040 others(4): Show a0001c0001t0013 a0001c0002t0020 a0001c0002t0040 a0001c0006t0043 a0002c0004t0013 a0002c0004t0023 a0012c0026t0013	a0001c0001t0013g0367 a0001c0001t0013g0368 a0001c0001t0013g0369 others(9): Show a0001c0001t0013g0367 a0001c0001t0013g0368 a0001c0001t0013g0369 a0001c0002t0020g0274 a0001c0002t0020g0356 a0001c0002t0020g0357 a0001c0002t0040g0359 a0001c0006t0043g0198 a0002c0004t0013g0353 a0002c0004t0023g0358 a0002c0004t0023g0370 a0012c0026t0013g0371	12	384	0.0313	-3	c.-83 others(12): Show c.-83_-82+1delAAG		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/20				33528	INFO_REALIGN_3_PRIME	chr3	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
C11orf86_chr11_66970304_66982009	66975627	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01358.hp2 HG01433.hp2 others(8): Show HG00642.hp2 HG01358.hp2 HG01433.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG03098.hp1 HG04204.hp2 NA18961.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0002	11	326	0.0337	1	c.267 others(4): Show c.267dupG	p.Tyr others(4): Show p.Tyr90fs	C11orf86	ENSG00000173237.5	transcript	ENST00000683896.1	protein_coding	1/2	327/1168	268/351	90/116		INFO_REALIGN_3_PRIME	chr11	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
C2orf92_chr2_97664713_97708066	97702739	GA GA	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show HG01243.hp1 HG01358.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0010 a0004c0004 a0010c0010	a0004c0004t0001 a0010c0010t0001 a0004c0004t0001 a0010c0010t0001	a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 others(11): Show a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0010c0010t0001g0088	15	308	0.0487	-1	c.743 others(4): Show c.743delA	p.Asn others(5): Show p.Asn248fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	8/8	819/1139	743/798	248/265		INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf226_chr6_42885265_42895821	42890786	C C	T T	start_lost start_lost	HIGH	HG01192.hp2 HG01255.hp2 HG01358.hp2 others(3): Show HG01192.hp2 HG01255.hp2 HG01358.hp2 HG02280.hp2 HG02922.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	6	394	0.0152	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	C6orf226	ENSG00000221821.4	transcript	ENST00000408925.4	protein_coding	1/1	36/557	3/306	1/101			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
CBX6_chr22_38856422_38877216	38866655	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show HG00673.hp2 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG03098.hp1 HG03139.hp2 HG04204.hp2 NA18974.hp2 NA18987.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0002c0002t0016 a0002c0002t0032 a0002c0002t0043 a0002c0002t0047 a0002c0002t0054 a0002c0007t0022	a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 others(8): Show a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 a0002c0002t0004g0041 a0002c0002t0013g0059 a0002c0002t0016g0060 a0002c0002t0032g0075 a0002c0002t0043g0077 a0002c0002t0047g0156 a0002c0002t0054g0061 a0002c0007t0022g0071	12	404	0.0297	1	c.792 others(4): Show c.792dupC	p.Ala others(5): Show p.Ala265fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	818/6052	792/1239	264/412			chr22	TogoVar
CCDC125_chr5_69275175_69337801	69320252	G G	A A	stop_gained stop_gained	HIGH	HG00639.hp1 HG01358.hp1 HG00639.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0028 a0003c0003t0001g0029	2	340	0.0059	0	c.289 others(3): Show c.289C>T	p.Arg others(3): Show p.Arg97*	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	2/12	482/4283	289/1536	97/511			chr5	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0014t0001 a0006c0008t0001 a0007c0009t0001 a0008c0015t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0206 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0190 a0002c0002t0003g0192 a0002c0002t0003g0195 a0002c0002t0004g0187 a0003c0003t0001g0003 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0004c0007t0002g0121 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0005c0014t0001g0135 a0006c0008t0001g0165 a0007c0009t0001g0164 a0008c0015t0001g0193	79	217	0.3641	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	260	360	0.7222	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5						chr14	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
CCT8L2_chr22_16585751_16597810	16591457	C C	T T	stop_gained stop_gained	HIGH	HG01358.hp1 HG01884.hp1 HG02280.hp2 others(1): Show HG01358.hp1 HG01884.hp1 HG02280.hp2 HG03041.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0012 a0003c0004 a0008c0012	a0003c0004t0001 a0008c0012t0001 a0003c0004t0001 a0008c0012t0001	a0003c0004t0001g0000 a0008c0012t0001g0000 a0003c0004t0001g0000 a0008c0012t0001g0000	4	430	0.0093	0	c.109 others(4): Show c.1094G>A	p.Trp others(4): Show p.Trp365*	CCT8L2	ENSG00000198445.4	transcript	ENST00000359963.4	protein_coding	1/1	1354/2060	1094/1674	365/557			chr22	TogoVar
CEL_chr9_133056981_133076861	133071567	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18947.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18977.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0004 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0004t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0003t0001g0013 a0001c0009t0001g0030 a0002c0004t0001g0037 a0007c0010t0001g0003	85	406	0.2094	1	c.207 others(5): Show c.2073dupC	p.Val others(5): Show p.Val692fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2096/2381	2074/2262	692/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071600	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0009t0001g0030 a0001c0017t0001g0001	47	408	0.1152	1	c.210 others(5): Show c.2106dupC	p.Val others(5): Show p.Val703fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2129/2381	2107/2262	703/753		INFO_REALIGN_3_PRIME	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
CHRFAM7A_chr15_30355566_30398540	30373077	TCA TCA	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp2 HG02622.hp1 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0018 others(2): Show a0001c0001 a0001c0007 a0001c0018 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0007t0001 a0001c0018t0001 a0001c0023t0001 a0001c0024t0028	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0004g0064 a0001c0001t0004g0069 a0001c0001t0004g0095 a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0126 a0001c0001t0014g0067 a0001c0001t0014g0089 a0001c0001t0015g0078 a0001c0001t0015g0087 a0001c0001t0025g0083 a0001c0001t0026g0063 a0001c0001t0033g0129 a0001c0007t0001g0079 a0001c0007t0001g0080 a0001c0007t0001g0081 a0001c0007t0001g0097 a0001c0018t0001g0075 a0001c0023t0001g0091 a0001c0024t0028g0101	53	132	0.4015	-2	c.227 others(9): Show c.227_228delTG	p.Leu others(4): Show p.Leu76fs	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	6/10	673/3411	227/1239	76/412			chr15	TogoVar
CMTM1_chr16_66561439_66584135	66566827	T T	TAAATGAG others(9): Show TAAATGAGATGGCGATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	5	396	0.0126	16	c.318 others(23): Show c.318_333dupTGAGATGGCGATCAAA	p.Glu others(5): Show p.Glu112fs	CMTM1	ENSG00000089505.18	transcript	ENST00000379500.7	protein_coding	1/4	409/1070	334/861	112/286		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 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.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.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 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.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 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 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 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
COL6A5_chr3_130340672_130489846	130471876	AT AT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2	a0001 a0004 a0006 others(17): Show a0001 a0004 a0006 a0008 a0010 a0023 a0026 a0028 a0044 a0051 a0052 a0056 a0058 a0062 a0065 a0066 a0068 a0073 a0075 a0086	a0001c0001 a0001c0014 a0001c0025 others(22): Show a0001c0001 a0001c0014 a0001c0025 a0001c0082 a0004c0003 a0006c0005 a0008c0010 a0008c0027 a0010c0009 a0023c0024 a0026c0089 a0026c0090 a0028c0029 a0044c0069 a0051c0049 a0052c0078 a0056c0060 a0058c0084 a0062c0106 a0065c0080 a0066c0105 a0068c0076 a0073c0052 a0075c0061 a0086c0056	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0025t0002 a0001c0082t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0027t0009 a0010c0009t0002 a0023c0024t0002 a0026c0089t0002 a0026c0090t0002 a0028c0029t0001 a0044c0069t0001 a0051c0049t0001 a0052c0078t0002 a0056c0060t0005 a0058c0084t0002 a0062c0106t0003 a0065c0080t0011 a0066c0105t0003 a0068c0076t0001 a0073c0052t0003 a0075c0061t0002 a0086c0056t0001	a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0003g0088 a0001c0014t0002g0183 a0001c0014t0002g0199 a0001c0014t0002g0233 a0001c0014t0002g0247 a0001c0014t0002g0250 a0001c0014t0002g0260 a0001c0025t0002g0227 a0001c0025t0002g0235 a0001c0025t0002g0236 a0001c0082t0002g0246 a0004c0003t0001g0026 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0138 a0004c0003t0001g0203 a0004c0003t0002g0191 a0004c0003t0002g0192 a0004c0003t0002g0194 a0004c0003t0002g0232 a0004c0003t0003g0085 a0006c0005t0001g0025 a0006c0005t0002g0012 a0006c0005t0002g0224 a0006c0005t0002g0225 a0006c0005t0002g0251 a0006c0005t0003g0021 a0006c0005t0003g0043 a0006c0005t0003g0045 a0006c0005t0003g0081 a0008c0010t0001g0106 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0167 a0008c0010t0005g0049 a0008c0027t0009g0162 a0008c0027t0009g0163 a0010c0009t0002g0094 a0010c0009t0002g0095 a0010c0009t0002g0096 a0010c0009t0002g0097 a0010c0009t0002g0100 a0010c0009t0002g0101 a0010c0009t0002g0277 a0010c0009t0002g0278 a0023c0024t0002g0005 a0023c0024t0002g0102 a0026c0089t0002g0198 a0026c0090t0002g0276 a0028c0029t0001g0099 a0028c0029t0001g0104 a0044c0069t0001g0134 a0051c0049t0001g0126 a0052c0078t0002g0272 a0056c0060t0005g0046 a0058c0084t0002g0267 a0062c0106t0003g0074 a0065c0080t0011g0063 a0066c0105t0003g0078 a0068c0076t0001g0270 a0073c0052t0003g0015 a0075c0061t0002g0263 a0086c0056t0001g0113	103	290	0.3552	-1	c.777 others(5): Show c.7772delT	p.Leu others(6): Show p.Leu2591fs	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/41	8110/8969	7772/7845	2591/2614		INFO_REALIGN_3_PRIME	chr3	TogoVar
CR1_chr1_207491157_207646765	207542737	CACATGTG others(18550): Show CACATGTGCTGAAATTGAGAAGCAAAGCTCAACCTGGGCAAGGGATATGA TGTTTCTTTGGGGTTCTTATAAACAGATCTATCAATTACCTTTGAGTATA ATAATGTTTGATACAAAATGAGTGATTCCTCTGCCCAGGCACTATAATAC AGGCTACATGTGAATTTTAATCCTGAAAACAAAGTTATTAGGTAGTTCCC AGTTGTTCTATGTTTGTCTGTTTTGTTTTGCTTGAGATACTGTCTTGATC TGTCACTCAGGTTGGACTGCAGTGGTGCCATCATGGCATACTTCACCCTC CACCTCCCTGACTCAAGCAAGTCTCCTGCCTGAGCCTCCCAAGTAGCTGG GAATGTAGGTGCATGCCACCATGCCTGGCTAAGTTTTTTATATTTTTTTT GTAGGGACAGAGTCTCACCATGCTGCCCAGGCTGGTCTCAAACTCCTCAG CTCAAGCACCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTGTGCCCGGCCTCTATGTTTTACAGAGAATATGTGCCTTAGAC ACATCAGATAACATTCTGAGACAGTAACTTGCAGACAAAACTGGATTGCA AGTCCACCTCACTCCAGAGCCTTGGCTTTGCTCATCAGCATTCAGTCATG AAATCAAAACTTACTCTAGATACTTTCAAGGAGGGAGGGATTTCATGCAG GTTGTATTAGTCTGTTCTCACATTCCTATAAAAAACTACTTGAGCCTGGG TAATTTATAAAGAAAAGATGTTTAATTGACTCAGAGTTCTGTAGGCTGTA CAGGAGGCATGGCTGGGAAAGTTACAATCATGGTGGAAGGCAAAGAGGAA GCACGCATATCTTCATATGCTTGGCAGGAGAGAGAGAGAGAGCAAGGCAG AGGTGTTACAGACTTTGAAACAAGCAGATCTTGACAGAACTCTATCACAA GACAGCACTAGGGTGATGGTGCTCAACCATTAGAAACCACCTCCATGATC CAGTCACCTCCCACCAGGCTCCTTCTCCAACACTGGGAATTACCATTTGA CATGAGATTTGGGAGGGGACATAGAGCCAAACCATATCGCAGCTAATAGG TCACAAAAATGTTAGAAGGGCAGGAAAAGCAATAGGACAAAGGCAAAGTT ACGAGAGATCAGGGAGCTGCTGTGGCTCCCAGTCTACAGCACAGGAGCCT GGAGTGATGGTGAAATGGCCAGCCCCTCCCACTGAGCAGGCAGCTCCCTG TAAGCTGCTAATACTGCAGGAGCCACCATTGCTGCCAGAATGCAGCTGAT ATTGCTGGAGCCAAAGTCATTGGCATCGTTACAATTGAAGCTGTAGCTAC TCACTGAAGCCATCTATACTGCCACTGCCTGAGCCACTTCTAGAAGTAGA ACAGATTCTGCCATCATCCTGCTTTTTAATTTGGTATATATGCCTCCAAT TGGCAGAACCTAACCAGAGCCTAGCTATCAAGGAAGATGAACGATTTATT TTTAAGGCCTCCATTGTTAGCTGTCAAAAGACAGTGCAGAAATGTGAGGC TGGGGGCCAACAGAAATTTAACCAGCACAGCACCTCAATATTACATCACC AGGCATTGATTAGTCCAGGGAAACACTGGGTGATGAGCCCTGAAAATGGA CATTACAGCATCAGAGTATTTACAAACTCCTTAAAGAAGTCATTTTTCTA TTCCAATCCCCCATTTGATGCTTGAGAAAGCTGAAGTCCAGAAAAGGGAA CTGATCTGCTCAAAGACAAACTGAAATTACTTTTTCCATTTTATAACAGT TTTATGTAATTTATTTGAGATCCAAATGTGTTTTGATTTCCCAAGATCAG ATCAACTACATTAAGAGAGAGCCTGAGATGCCGTTACAATATGTTGTGTG AAATTACACTCTCATTATGGTGACAGTAGGTCTTTCAGATTTTGTTCGAC AGTTTCCCACCTTCTCACTGAAGTGAAATGAATGACTAGGCAGCACCTTG CTACATAGCATGAAGAGAGGAGACCCATAGTTCTTTACCACCCTATGTCA GGTGGCCGCTGAGAGAAGACTTGAAAGGAGATGAGCATAGATGTATGGAC GCTCTTTGTTGCACCAGTGTGATAGGTGATGGAGGGACCTATTAGATGGG ACATGGGCAGGGGCACTCCTTTATTGCTTAAAATGCAAGACTAAATTGGT GATGCCTTTCTAGAAAGGAAGTATGAAGATACAAAAATCCATCATTCCTC CCAATTTTGTACTGGGTGAACAGTAATTGGAAGCATTCTAGAAGGAACTG TCCATTGTGAAATCTTAGTTGCATACTTTAGATGAAAAACAATGAATTGG AGATACCTCTGTTTTAGTCACAGTTGTGCCATGTGTCAGTTCTATGACTG ATGGCAAGACATCTTCCTTGCCCCGTGTATTTAGTTTATCAATGTAATAA GGCTGTTATTCTAACTTTATTATTATATATAGATTCGTAATTATTATTCC CTTGGCCAGTTTAACAGTGAGAAAAAAGTTGTTTTCACACAATTAGCTGT ACTTTGTTTCTCTCTCCCCAGTATGTCAGCCACCTCCAGATGTCCTGCAT GCTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACCCGGGCAGGAAGT GTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGC GCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCACATGTGAAGGT GACTAGACTCTTATCTGGCTTGATATTTTTAGCTTGCGTCTTTATTCTCC ACATGCCAGTGATTTCTGTTCGTTTTTCTTTATCTCCAGTGAAATCCTGT GATGACTTCATGGGCCAACTTCTTAATGGCCGTGTGCTATTTCCAGTAAA TCTCCAGCTTGGAGCAAAAGTGGATTTTGTTTGTGATGAAGGGTGAGTAT GAGCTTGCCTGACCTGCTGGACATTGAAATTGGGGTTGGGAATCAGTCTA AAAAGGGGAGATTTGGTGTGGCACACACACACACACCTTCAGAGAGATGA ACTTTCGAAAGTATACCTAGGAAGAAAGGAAAGAAACATATAGAACTAAT AACATGAGATATGAAGAGGAAACTGGAACATATATTAACTGGCAAGTTCA AAGGCAAGTATAACTACTGGTTATGAATATATAAGTAACACATTAAGCAA AAAATATCAGCCAGAAACGGTGGCTCACCCCTGTAATCCTAGCACCTTTG GGAGGTTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCT GGACAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGG GTGTGGTGGCATGTGCCTGTAATCCCAGCTATTCCGGAGGCTGAGGCACC AGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGGCAC CATTGCACTCCAGCGTGGACAATAAGAGTGAAACTCCATCTCAGGAAAAA AAATCATATTTTACAAGCAAAAAGGAATATGAGTAATTTAGAGAGTCCCA GGAAAAAACTGGAAGTAACAAAAGCTTATTATAAAAAGCTAGGATCATTT GTGAATCATTTCAGTAAATTCTTTAAATCGTCAACAGTGAAATTTGTAAT AGGACTGAAAATGTAAAAATCAGCATTTTTTAAAAAAATCCAGCCATATA TCATCTGGTTAATCATGGGCTCTGGGCTCTGAGCTGGGGTCCTGATGGCT GCTGTTAATATTTCCAGCAAGCTCATTACCTTGTTTATGTCCACCTAGTG CTCTTCGCAGGGTGCACATCTCTACACGGGAGCTGACCGGCATGGGCAAC AAAGCACCTGATCCCAAAATGTAACACAGAATCTTGGCAGCCTCCAAATG CCAGCACCCAGTAAGAGTTAGGAGGGCATCGGGGTCCAGCAGACATTGAG AATTTTCGACAATTGCATGCAAAAAATAAGTCCTCTCTTCTTTCCTTTTT CCCCTAGAATATTCATGCTTACTCTTCAGCAGCCCAAATTGCCCTTTTGA GCCTTCTTCACGCCATCACAGATGTGGAGATGAAAGGACAGTCTGTTCTC TCGCCAGCTATTTCCCACTTTTCCACTCCAAACTGGGAGCTGTTTTACTT GCTGTTCCAGGGTCAGAGTTAGGAAGGCATTACATTAGAAGACTGGGTTT CTAATAACAACAATGAGTGATTTATCAGGTTATCATGGAGTAATCAGTGA AACTCCAAGCCTGGGTCCTGGGTCAAGGGGATGGCGCCTATGTCATGACC ACCTTTTTCAGTTCAAGCAGGACTATCATGTGACCAAGCTACTGCATTTT GCCATTCTATATTGTTCCCTTCTGGAGGCTGTGATTTTTCCAGAATAAGG TAGCCTGTGCAACTCTGCCACCTGCTGGCCTAAGGTCCTAATAATCCTGA AATTGGGGCTGGGCCTTAGATTGTGAACTAAGGGTTCTCTTGGCTGAAAC AGCTCACACTATTCACTCCTATTTTCTTCTTTAGATTTCAATTAAAAGGC AGCTCTGCTAGTTACTGTGTCTTGGCTGGAATGGAAAGCCTTTGGAATAG CAGTGTTCCAGTGTGTGAACGTGAGTAGCAGGAGTAACATTTCAGGCCAG TCTCTCCCTTCATCTGTTCAGTATTTGACCCATGACCTCCCCTAATGTGG TTCTTCAATTTTCTAGTTTGAATTATTGATTTGAAAATTGCTTATTTTAA TAATGTTTGGTTGTGAATCAAATGTATACATCACCTGTCTTTGGAACCAT CTGATCTGTCTCTGTCCTTCTGTATTCTGTGTTCTAGTGCGATAAATCCT ATGGTAGCATGATTCTAGGTCAGGAGAGATTAGATAATGTGAAGCCTTAA CAATTTGCTTTCTTTCTCTCTTTCTTTTGTTTCTTTTTTCTCTTCCTTCC TTTCTTCAGTTCTTTCTTCCCTTCTCTTTCTCTCCCCTTTCTTCCTTCCT TCCTCCTTCTTTCTTTTCCATTTTGTTCTTCCATCAGGTGCAGTCTACAA TTTTTGTATATATTTGATAATACACAAATATTAAACATGCCTTTATTTAA TCAATATTTATTGATCACATACTTTGTGCCTGATGTTCATCTAGCCACAG GAGTTATATCAGTGAACAAGATGAATGAATTCCCTGTCCCCATGTTGTTT CCACTCAGTTGGGGAAAGGGACAAGAAAAAAAATAAATACGATGCTATGA AGATAGTAGAGCAAAGCATTTAGGCATGAGGGAAAAGTGAGGAGCAACAT TAGACAAGGCGAGCAGTTTGAGACTCCTTAAATTCTCAAAACATGTACCT AAATAATTTATGCTGAGAGATTCATAAATAATGTCATTTTTAAAAATTTA TTATACTTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTAC ATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATT TACATTAGGTATATCTCCTAATGCTATCCCTCCCCGCTTCCCCCACCCCA CAACAGGCCCCGGTGTGTGATGTTCCCCTTTTTGTGTCCAAGTGTTCTCA CTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTTTGT CCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCC TAAAAAGGACATGAACTCATCAATTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCAGCAATAAACATATG TGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATAC CCAGTAATGGGATCGCTGGGTCAAATGGTATTTCTAGTTCTAGATCTTTG AGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGGTTACAGTCCCA CCAACAGTGTAAAAATGTTCCTATTTCTCCACATCTTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATAGCCATTCTAACTGGTGTGAGATGGTAT CTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTTTTCATGTGTCTGTTAGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTTTTTCTTTTAAA TTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAG TAGATTGCAAAAATGTTCTCCCATTCTGTAGGTTGTCTGTTCACTCTGAT GGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTATATCCCCTT TGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAG TCCTTGCCCATGCCTGTGTCCTGAATGGTATTGCCTATGTTTTCTTCTAG GATTTTTATGGTTTTAGGTCTAACATTTATGTCTTTAATCCATCTTGAAT TAATTTTTGTATACAGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACAT ATGGCTAGCCAGTTTTCCCAGTACCATTTATTAAATAGGGAATCCTTTCC CCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGT GTAGTATTATTTCTGAGGGCTCTGTTCTGTTGCATTGGTCTATATCTCTG TTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAG TTTGAAGTCAGGTAGTTTGATGCCTCCAGTTTGTTCTTTTGGCTTAGGAT AGACTTGGCAATGCAGGCTTTTTAAATAATGTCATTTTTAAAAAATGAGC CCCATATGTTCAATAATGAGTAGACTACTGATTTCTCCTAGTCTCCCCAT TTATAATTTCCCCAATAGAAGATAGAACTTTGCTTCATTTCTTGATTCTA ATGATTGGGAAATGTGTTTCTTTAGAAAACCATGAAATTTTACTAAAATG TTTATGTTGTTAGAAATGGACATCTTACAGTGCTTTTTAGAGTAAAATTT TGGAAGAACATAACTTATATAGAGATTCTTGCTGTCTAAGAAATTCAGTG CTCCTTGAAGCAGCATGACAAATTTCTGTTCTACCATCATGAATGAAAGC TCATTGATTGGACTACTCAAGCTTTCTCTTATTTTTCATAACTGTTGCTA GTTAAAGTAGCTTCTTCCAAATTCCAGTTCTAATGAAAAATGCCAATTAG AAATGAGGAAGAAACTGTTCTAAACAAATCAGCAGATGCTAGAAAGGAGA AACAACTTGAAACCTGACCCAGAAAGTTAAAAGAGAAAATAAATCATCAA CAGACCTAGACATTTTCAAAAGCAAAGCCATCTGAATCCATTTGGAGTTG TTTTTTATCATGGCCTTACTATGTTTTAATTCACTGTGACAGGGCTATTG TTATCACTGAGATTGATGATCAATATCAAGAAGTAATCAGCGAAAGGTTT CACCTATTTAAGATGATTAGCACACATATGTACATTTGAGAAATATTTCC TAAGAATGCAGGCTCCTTCCTCAGCACTCTGTCCCCAGGATCCTGATGAG TGGCTGACACAGGACAAGTGCTTAATTAATATATATTGACTAAATGAATG AGCAACCCTTCAAAATGGCTATTTTTCTTTTTCAAATGTTTTGCTACTTC ATTAAAGTTGTAAAGTTTCCATTGTCCAGGAACCGTTACTATCCGGAAGA TTCAGGATAGACAAGTCTCTTTTGTACTTTGCAATACACTTTCATTGATA TCTCATTTAATCCAACTCTTCAAAGTCCTAATGTCTACTGTCATCTCCTT AGCATATTTTCAGCAACACCAATCATAGCACCCTGTAATTGCAGAATACC TCTGGTGAAACTCCTGAATGAAACTTAGAGCTTTCATGTTTTTTCTAGAA ATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAA ACCTCTGGAAGTCTTTCCCTTTGGGAAAACAGTAAATTACACATGCGACC CCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATC CGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCC TCGCTGTGGAATTCTGGGTTAGTGCTCATTTCCCCACATCCCAAATGGGT TCAGAATATCTAACCCAGGCCCTCCATATTTCCGTAATTACAATGTGGTA TTTATTTGTGCATTTGCCACAATGGAATGCCAAACCAATGATAGATGGTT CTAAGGTAGGTCAACACATAAGATCCTGATGACCTTTGCAGATGGAGGGA CTGATGAAAAAAGAGGGAGGCGGTGAGTGGTGGGAAAGTCCTTCATTAGA ATCATATGAATTAAAAACAGATGCCTGTGAATCTCCTTATTGAAATGTTT GGTTTAGAAATCTGACCTAGAAAATCGGTGGCTCCTTCTGCCAGGAAACG TCTTGAGTTCCCGCCCATGCTTGACAGCCTCTCATTGGAGTTTTGATGAC TTGAAGTACAAGGAAACCAGACAGGAAAGGTGGAACCTGGGCAGAAAAAC TCTTTCTGGCTTCCTAAAAATGTGAAAAATTAAATGGGAGCTATCTTTAC ATTAAATTATATGAGCATTAGCTGAGCGTGGTGGCAATTGCCTGTGGTCC CAGCTACTCGAGAGGCTGAGATGGGAGTATCCCTTAAGCCTGGGAGGCAG AGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACCCTATCTCAAAAACAATAAAAATAGGCATTAGGAGGCCAAGG CTGGTGGATCACTAGAGGTCAGGAGTTCCAGACCAGCCCGCAAACACAGT GAAACTCCAACTCTACTAAAAATAGAAAAAAAATTTAAAAACAAAAATAA ATTATATGAGTAGAAAGACCAGATAGCAGGCTAGTCTTCCAAATAATATA CTTCCTTATAAGCCTATGCTAATGGAACTTTCCTTTCTATTTTACAGGGA AGTTTTTTTTTTTTCATAACTAAAATTTTCTTTTCTTCTGGCATCAAATC TACCAAGGAAGAGAAAAGAGGAAACACACTGGGTATCTTTTTATTAACTC AAATATTCTTGATTTCTTGGTCTCTAGGTCACTGTCAAGCCCCAGATCAT TTTCTGTTTGCCAAGTTGAAAACCCAAACCAATGCATCTGACTTTCCCAT TGGGACATCTTTAAAGTACGAATGCCGTCCTGAGTACTACGGGAGGCCAT TCTCTATCACATGTCTAGATAACCTGGTCTGGTCAAGTCCCAAAGATGTC TGTAAACGTGCGTAAACTTGCGTTGGATCTTTCCCATGTCTGCAAAAGCT TCTTATGGAATTATTTCAAATGTGGGATATGAGAAACCTTTTCTGAAAAG TGTTCGGATAGATGGATGTAAGAGTTTTTCTTGTAGGCATCCTTGATTGT TGCTTGAAATGTTAACTTCATGAGAATGTTTCAAGAAATAGTTGTAGAGA AAATCTTCATTCCCTATGGGAAAGAAAATAATAAATGACTAGATCAGGAA AAAAATGGTGTAGGAAGACAAATTCTGTTTGAATAACTAGGTGGGAAGAA ATCCTTTGCAAACTTTGAAATATATTGATAGTAAATAATGCCATAAATGA CCTTTACATTTTGATAAGGGATGCAAGGTCTCTACACAGATCTAAATCTA GATCTAGATAGATCTGGAGGGAAGGTCTTTTTGAAAGTGGGGCTTAGTAG GTGGCTGATCCTCAGCGCTCTGATGAGTTTTCTCAAGGTGCCAAAATCTG TGGAACCATCAGAACCGCGTGTTTTCTTCAGGAAGCTACATGCAGGTTGA GACCTTACGTACTGAAGAGAGTTCAGATTACTCTACCTGGCTCCAAAACA TTTTCTTTCCCACAGGTAAATCATGTAAAACTCCTCCAGATCCAGTGAAT GGCATGGTGCATGTGATCACAGACATCCAGGTTGGATCCAGAATCAACTA TTCTTGTACTACAGGGTGAGTTGGCAGCAACATCTCTTGGTTTAAGAGTT CCAGCACAGCGATAGTACTTTCTAGCCACATCTCAGCAAGGAAACTAGGC TATTGCCACCTGCTCTTAAGAGGCTTGAACACAGGTGTTAACTCCTGATT GAAATGAACAAAGATAGGAGAAGATTAGGGGGAAAATCTGTATCCTTGCT GGAAACCAGGGCAGTGCACATATAAAGAGTATGCTGTTCACTGGATGGGA AAGAAAAAAAATTAGAAGTGTAGTAGTCAAAGCACACAAACAACCCTAAC CCAGAGTAGACATTGCTGGAAGAAAGGGAAGACCATGTAGCAGCTGTGTG AGAGAATGAATCTTAATGATAACAGCATGATCCCTTGCTAGGGCTGCCAT CAAAAAGTACAGGCCTTCCTCGTTTTATTGTACTTCGCAGATGTTATGCT TTTTACAAATTGAACGCTTGTGGGAACGCTGTGTAAGCATGTTCGTCGGC ATCATTTATCCAACAGCGTGTGTTGACTTCGTGTCTCTGTGTAGCATTTT GATTATTCTCACAGTATCCCAGATGTTTTCATTATTATCATGTCTGTGAT AGTGATCTGTCATCAGTGATCTTTGATGTTACTATTGTCATTGTTTGGGG TCCCTACGAACTGCACCCATATAAGACAGAAAACTTAATCAATAAATGTG CGTGCTTTGACTGCTCCATGGACTAGACATTCCCCTTCTGTCTCCCTCTC TTCAGGACTCCCTAATCCCTGAGACACAATAATACTAAAATGACTCCAAT TAATAACCCTACAATAGCCTTTAAGTGTTGACATGAAGGGAAGAGTCATG CATCTCTTACTTTAAATCAAAAGCTAGAGATGATTAAGCTTACTGAGGAA GATACGTTGAAAACCAAGATAGGCCAAAAGCCATTCCTCATGTGCCAAAC AGCTAGAAAGTTGTAAAGGCAAAGTAAAAATACTTGAAGGAAATTTAAAA TGCTCTTCCAGTGAACACATGTATGATAAGAAGGTAAAACAGCCTTATTG CTGATATGGAAGAAGTTTTAGTGGTCTAGATATAAGATCAAACTAGAAAC ATTTCCTGAAGCCAAAGCGTAATCCTGAGCAAGGCCGTAACTCTCTTCAA TTCTGTGAAGGCTGACAGAAGCTGGAAGCTAGCAGAATTTGGTTCCTGAG GTTTAAGGAAAGAAGCCCTCTCCATAACATAAAGGTCCAAGGTGAAGCAG CCAGTGCTCATATAGAAGTTGCAGCAAGTTATCTAGAAAATCTAGCTAAG ATCACTGACGAAGGTGTTACACTAAATAACAGATTTTCCATGTAGACAAA ACAGCCATCTATTGGACTTTCATAGCTAGAGAGGAGAAGCCAATACCTGG GTTCAAAGCTTCAAAGAACAGGCTGACTTTTTAGGAGCTAATGCCGCTGG TGACTTTGAGTTGAAGCCAATGTTCACCGACCATTCTAAAAATCCTAGGG CCCTTAAGCATTAAGTTAAATATACCTTGCCTGTGTCTATAAATGGAAGA ACAAAGCCTGATGACAGAGGTATGTTTGCGGCATAGTTTACTGAATATTT TAAGCCCACTGTTGAGATCTAGTGCTCAGAAAAACAGATTCCTTTCAAAA TATTACTGCTCATTGACATTGCACCTAAGCAGCCAAGAGCTCTAATGGAG ATGGACATGGAGATGAATGGAGTTTTCCTGCCTGCTAACAACGGCAGCCA TTCTGCAGCCCATGGCTGAAGGAGTAATTTTGACTTTCAAGTTTCACTAT TTAAGAAATACATTTTGTAAGGTGAGTCCCCACAGACAGTAATTCCTCTG ATGGATCTGAACAAAATAAGTTGAAAACTGCTGGAAAGAATTCATCATTC TACATACCATTAAGAACATTCGTGATTCATGGGAAGAGCTTAAAATATCA ACATTAATAGGAGTTTGGTAGAAGTTAATTCCAACCCTCATGGCTGACTT TGAGAGGTTCAAGACTTCAGCGGAGGAAATAACTGAAGATGTGGTGAAAA TCGCAAGAGAACTACAATTAGAAGTGGAGCCTGAAGACGTGACTGAATTG CGACAAATTCATGATCAAACTTGAACAGATGAGGAGTTGCTTCTCATGAA TCAGCAGAGAAAGTGGTTTTTTTGAGGTGGAGTGTCTTCCTGGTGATGAT GACATGAGCATTGTGAAAATGACCACAAAGGATACAGAATATTACAAAAA CTTAGGTGATAAAGCAGCAGCAGTATCGGGAGGATTAACTCCAATTTTGA AAGCAGTTCAGAGGGTAAAATGTTATCAAACAGCATTGCATGCTAGAAAA ATCTTTTGTGAAAGGAAGAGTCCATCAATACAGCAATTTTATTGCTGTCT CAGCTTAAGAAATTGCCACAGCCACCCCAGCCTTCAGCAACCACCACCCT GATCAGTCAGCAGCCATCAACCTTGAGGCAAGACCCTCCACCAACAAAAA GATTACAAATTATTGAAGGTCAGATAATCTTTAGTATTTTCTTATCAATA AACCTTTTTTTAAAGTATGACTTTGTTTAGACATAATGCTATTTCACACT TAATAGACTACCGTATAGTATAAACACAACTTTTAGACTCACTGAGAAAT CAAAAAATTCATCTGACTCATTTGTTGTGATATGTGTTTTATTGTGGTGG TCTGGAACTGAACCTGCAATATATTTGAGGAATGTCTGTAACACGAAGTG GGCGGCTTAATACAACAGAAGTTTTTGGAGTTCCATTCTAGAGACTGGAA ATCCAAAATCAAGGTTTTGGGAGGGCCACGCTCCCTCTGAATCCTGTAGG GAAGGATCCTTCATTGCATCTTCCAGCTTCTGGAGCCACAGGCCTTCCTT GGCATGTGGCAGCAGAACTCCAATTTCTGTCTCTGTCCTCATATGGCCAT CTTCCCTCTGGGTCTGTGTCCTCATATGCTGTTCTCTCTGTGCATGTCTG TTTCCAAAGTTTTCCCTTTTAATAAGGACACCAGTCACACTGGATTAGGG CCTACCTTCATGACCTCACCTTAACTTGATTGCGTCTGCAAAGATCGTAT TTCCAAATAAGGTCACATCCACAGGGACTGGAGGTTAAGACTTCAGCATA CTCAGGGGAGACACAATTCAACCTATAACAGAGCCCCTTTGAAAATGTCA GGCATCAGGTGCTCACAGCACACGGTCCAGCTGTTGGTGCTCACCCTTGC TCAGCACACGGTGGAGGCTCTGCCTCAATCTCATTCTTCATGGGAACAGC TAAGCCAGGTAGCGAATACGAGTTACGTTTGTGTCACCACAGCAGACACT GAAAGGAAGTTTGTGGTGTCCAGCACATTTGCCAGCATAGGCCTCACAGA CCACAACACCTAGAATCTGACAAAAATTAGAATAAATCCGATGTCTCCTT TTCTCTCTTTTTTTAAGCATTTTTAAATACAATTGGTAAATTTCCTGACT GTACCCTACTCATCTTGCATTGCTGAATAAGTGAGGAACCTCTCTATGGC ATGAAGCAGAAAACCATTGAGCTTATGAGAAGAAACAGGAAATACATGTA AAAGAGACCAGTCTGAAAAATCAGGAGAAATTTTACAAAAGAGATTTACT GCCAAGAAACCAGGGAAACTTTCAGAACACTCTCCTTTTCATATTTGTAA CAAGATTCAATTGTACAAATACTTCTGTGAAACTAGCCATGAAGTGTGTA CATGAATGAATATATGTATTCAGTGTGTTTATATATTTCATTTCATACAT GTGATCTATATCATATATATATATATATATATATATATATATATCACAAT GAATATTGCAGAAAATTAAAGCAAAGAGTAAGAAGAGTTAACCAAATGTT CCCTGAATGCAGTGGGAAAAGATGAAAAGGAGAAGACAGGCAAGCACAGT GGCTCACACATGTAATCCCAACATATTGAGAGGCCGGGGCAAGAGGATCA CTTGAGCCCAGGAGCTCAAGACCAGCCTGGACAACATGGCAAAAACCCAT CTCTACAAAAAAGTATAAAAATTAGCTGGGCATGGCAGCATGTGACTGTA GTCACAGCTAGGCAGGAGAATGAAGTGGGAGGATCACCTGAGCCCAGGAG GCTGAGGCTTCAGTGAGCCTTGATGGCAACCCTGCACTCCAGCCTGGATG ACAGAATGAGACCCTGTCTCAAAAAAGGAAAAAGAGAAGACATATGTAAC ACAGTGTCAGGATTCAAAATACATGTAGCAAAAATTCCAGAAGGGTAAGC AAATAAGCCCATACCTAGCCATCACTAGGGAAACTTCTGTGTTTCAGGGA TAGAGAAAAAAACTCTGATTCCAGAAATAAAATGTGAAAATATAATACCC GCAAAAGAAATAAATTTATTGACACCACATTGATTCTATATTGTATAAGA TATATTGTATAACACTAAATTGTAGAAGATAGCACTTCTCTTGAGCCAAG CTAATATGCACACCTAGAGGCTCCAGGTACACATTAAAGGATAAGCAAAG ACACAAAAATTGTACCATTTAAGTATGTTTCCCAGGCAATTCATAAGCAA ATTTTTAAAAAGGAGAATGATGAATTCCAAAGGAAATCTCAATGAGATAG GATGTAGGTAAAAAGAAAAAACAACAATAAAAAAAACATACACACAAAAT CTTGGCAATGTAATAATAATTTATTAATAATCTCTCTAAACTCATAGAAT ATATCAATAAAACTAGAAAATGTGAGACAGCAAGAAAAGATAGGCTAGAC TTACATTACAGAAAAGATGAGTAGACTGACTATATAGAGTTTGACTCTAA AATTGAGAAAAGAGGTTTAAATATGTGTCACGTGTATATGTATAATATAC ATGCACACATATAAAATGAAATTCCTCACTGGAAAAAATATTAAGTTTAA TTTCCAAATTATTAGAATGACTAAAACAGTTGAATCTATCTGTTCCATAT AGTAATTGAGGGGGAAGGAAAAGGAATAGCAAGGAATCCATTTTTCTCTT CCACCAGAAATAAGCTCCCTCATGTTTGGGTCAGGTCACTTTATTCATTG CTTTCTCCACATCCTCATCATTAGGCATCATGAAATCAATGAAAAGGCAG TGAAAGAATGATGATGAAAGCTAATCAAATGTATCATTTACCTCAATACG TTTGGTTTAATCTTCTTGTTGAAAGACAAATTCTCCTAGACAGGATCAAA AGCAACATATCTTGTATTTATAAAAAACATGTCTCAAGTAAAATGACATA GTATTATACACACACACACACATACACACACACACACACATTAAGGGAAA ATGCAGACAAAAAATGGCAGAAATAATATTTAGAGAAAGATAGAATTTAA GAAAAAAAATTGTCAAACAGGTCTGCAAAATAATTGTTTTATTTTGGTGC CAGTTACAGTCCGCAATGAAGCGAAGATATTAAGAAGCAAAGTGGGCCAG GAGAAATTAGAGCAGAAATATCTCTTTCAATAGTGAGAGAATAGGAAAAA GAAGTAGAAAAGCTGGGAACAATAGGTAAAGTTTAGGCTAGGCCTTAGAC TTCTCCTGCATTGTAATCCCTCTGGTTTGCCACATATGCATGCTGTCAGG AAGTTGATGAGGTATGTACAGCACAATTTATTTTCCATTTTTTGCCTTTA GGCACCGACTCATTGGTCACTCATCTGCTGAATGTATCCTCTCGGGCAAT GCTGCCCATTGGAGCACGAAGCCGCCAATTTGTCAACGTGAGTTGAAATC TCTTTCCCCATTCACCCCACCGTTTAATCCTAGAGTTGTCCTCCTAGAAT TACAAAGAATGGATCTCATCCCTCTTGGAAATGGTATCCTTCTCATATTT GAAGAATCCAGTCATATCCTTAAAATGGCTCACAGCATTCCAAACTTCCA CCTTCAGCTAGAAATGCTTTTTTATTTTTTCTTATCTCAAGGTCTAATTT TTTTTAAACTAGTCTTTAGCTCACTTAAACAGTCCCCCAATTTCATCCTC TGTTGGGTGAACACCTCCCAGTTTAAAGAGCATTTTATTTAGTGAAGTCA ACAAATACAAAGTCAGTGAAAGAAACCCCATATCCTCTCTGCAAGCTCTT AGTATCACATCAGATATTCAAGCCATGCAGCTCTTTCTTCCTTCTTATTC TTTGTCTAAACAGGATCATGCCATCTTCCCTGTGAGTTGTTTGGAAGATG AGCTTTCTACATTTTGGGGAGCAAAGACGAATGAGCAATTGCAAGCTAAC AAGGAATATAAAATGTGTATAATCCTGGGTTTAGTGATGGTGTGAGGAAA TCAGCAATTTCAAACCCAGTTGGTGGGAGGATAAGTGGGAACAAACTTTG TAGAAGGCCAATAAACTGGCTGGGCACTGCCCTACGGTAGAGTAGGACAC AGTATTCAGTTCTTCCAAGATCAGACGAGATTGGGCGCATTTAGGGTGGT ATGGTTGTAGATCAGTATCCAGTTCTTTTTATTATTTCTGAATCTGTAAG TATCATGTTTATTATATGTAATATTGTATATTTGTACTTTGTCTTTGTTA GTTCTTCCAGAGCTTTTGTTCTTATTATTTAATAAAGATGTTATACTGAG CCACATGTGGTGACTCAAACGTGTAATCCCAGCACTTTGGGAGGCCTAGG TGAGCAGATGGCTTGAGTCCAGGAGTTTGAGACCAGCCTGTACAACATAC TGAAACGCTGTCTCTACAAAAATACAAAAACTATACGGGCATGGTGGCAC ATGCCTGTAGTCCCAACTACTCAGGAGACTGAGAGGTGGGAGGATTGCTT GAGCCAGAGAGGTCGAGGCTGCAATGAGCCATGATCGTGCCACTGCACTC CAGTCTGGGCAGCAGAGCAAGACCTTGTCTCAAAAAAAATGCTATGCTGT ATGCTTTATTATATTAATATCCAATAGAATAAAGACACATGCCTTCTATA TAGAGAGAACTAAATTAATAATGGTGAGATAACAGTTAAATTCTCATTTA GCAGGAGAAATAAAAACATAGACTATAGGCTAGGCACAGTGGCTCATACC TGTAATCCCAGCACATTAGGAGGCTGAGGTGGGCAGATCACTTGAGGTCA GTAGTTTGAGACCACCCTGGCCAACATAATGAAACCCCGCCTCTACTAAA AATACAAAAGTTAGCCGAGTTTGGTGGCGCATGCCTGAAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGCAAGGGCTGC AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGGAACAGAGTGAGG ATCTGTTAAAAAAAAAAAAAAAAAGTGGACTCTAATAATACATGGACACA TTTAGTGAAATAAACTTAACTGAGTAGAGCAGAACTTATAATATTTTAAA ACTGTAAGAACATGTCTGTACATTAGCAAATAGTAGATGAGAATAGTATT TTCAATATTTACTTCTGGTAATTTGGAATTAAAAAAAAAACTTTTGGGAA AATTTACAATAAAGTATGATTTTAACAAACCAGGCTAGGCGTGGTGGCTC ACGCTTATAATCCCAGCACTTTGAAAAGCAGAGGCATGCAGATTGCTTGA GGCCAGGAGTTCAAGACTAGCCTGCCCAACATGGCCAAACCCCATCTCTA CTAAAAATACAAAAATAAACCAGACATGGTAGTGCATGCCTGTGATCCCA GCTACTCGGGAAGTTGAGGTAGGAGGATTGCTTGACCTGGGAAGTGGAGG TTGCAGTGAGCCATGATCGTGCCACTACACTCCAGCCTGGGTGACAGAGC AAGACTCTGTCCCAAGGTTTTGTTTTGGTTAACTTGCTGTCCCTTTTTCC AGGAATTCCTTGTGGGCTACCCCCCACCATCGCCAATGGAGATTTCATTA GCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGC AATCCTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTC CATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCGG CCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAAT GGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGT GGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCGCCGTGTGA AGTGCCAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGG GGTGAGTCTGACTGAGGCCTAGTAGGGCCCTGCAAGTGACATGCGTTGCT GTTGGATCAGGAGATTAGTATTTGTTCACGGGGAGGGATGTGTGCTGAGC AGGGTCGAGGAGCAAATTTTCTAAGTAGTGAACATGAAATTCAGGTGTGT AGACATGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.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 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0015 a0018 a0022 a0023 a0026 a0027 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0016 a0001c0029 others(28): Show a0001c0001 a0001c0016 a0001c0029 a0002c0002 a0002c0033 a0002c0053 a0003c0003 a0003c0013 a0003c0027 a0003c0036 a0004c0004 a0004c0009 a0004c0035 a0005c0006 a0005c0008 a0007c0007 a0007c0012 a0010c0042 a0010c0043 a0013c0017 a0015c0052 a0018c0044 a0022c0048 a0023c0046 a0026c0047 a0027c0045 a0030c0051 a0031c0026 a0032c0034 a0033c0050 a0034c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0016t0002 a0001c0029t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0002t0022 a0002c0033t0001 a0002c0053t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0011 a0003c0013t0003 a0003c0027t0003 a0003c0036t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0004c0009t0001 a0004c0009t0002 a0004c0035t0001 a0005c0006t0001 a0005c0006t0002 a0005c0008t0002 a0007c0007t0001 a0007c0007t0020 a0007c0012t0001 a0010c0042t0002 a0010c0043t0003 a0013c0017t0003 a0013c0017t0021 a0015c0052t0002 a0018c0044t0002 a0022c0048t0005 a0023c0046t0002 a0026c0047t0012 a0027c0045t0011 a0030c0051t0001 a0031c0026t0003 a0032c0034t0001 a0033c0050t0001 a0034c0032t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0147 a0001c0001t0001g0246 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0335 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0070 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0277 a0001c0001t0002g0285 a0001c0001t0002g0300 a0001c0001t0002g0306 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0243 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0301 a0001c0001t0004g0032 a0001c0001t0004g0159 a0001c0001t0004g0183 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0284 a0001c0001t0007g0135 a0001c0001t0007g0140 a0001c0001t0008g0105 a0001c0001t0008g0177 a0001c0001t0008g0226 a0001c0001t0010g0338 a0001c0001t0010g0339 a0001c0001t0015g0248 a0001c0016t0002g0063 a0001c0016t0002g0064 a0001c0016t0002g0065 a0001c0029t0002g0095 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0036 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0185 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0256 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0129 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0215 a0002c0002t0002g0219 a0002c0002t0002g0283 a0002c0002t0003g0117 a0002c0002t0003g0120 a0002c0002t0003g0204 a0002c0002t0018g0119 a0002c0002t0022g0008 a0002c0033t0001g0101 a0002c0053t0001g0195 a0003c0003t0001g0109 a0003c0003t0001g0342 a0003c0003t0002g0096 a0003c0003t0002g0112 a0003c0003t0002g0143 a0003c0003t0003g0004 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0107 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0144 a0003c0003t0003g0152 a0003c0003t0003g0162 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0259 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0273 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0291 a0003c0003t0003g0340 a0003c0003t0003g0341 a0003c0003t0003g0344 a0003c0003t0003g0345 a0003c0003t0003g0353 a0003c0003t0011g0106 a0003c0013t0003g0006 a0003c0013t0003g0263 a0003c0013t0003g0264 a0003c0027t0003g0274 a0003c0036t0003g0265 a0004c0004t0001g0079 a0004c0004t0001g0081 a0004c0004t0001g0292 a0004c0004t0001g0323 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0321 a0004c0004t0002g0322 a0004c0004t0002g0324 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0331 a0004c0004t0002g0332 a0004c0004t0002g0337 a0004c0004t0002g0349 a0004c0004t0002g0351 a0004c0004t0002g0352 a0004c0004t0006g0075 a0004c0004t0006g0076 a0004c0004t0006g0078 a0004c0004t0006g0088 a0004c0009t0001g0153 a0004c0009t0002g0094 a0004c0009t0002g0343 a0004c0035t0001g0097 a0005c0006t0001g0001 a0005c0006t0001g0030 a0005c0006t0001g0083 a0005c0006t0001g0090 a0005c0006t0001g0108 a0005c0006t0001g0154 a0005c0006t0001g0155 a0005c0006t0001g0156 a0005c0006t0001g0157 a0005c0006t0001g0158 a0005c0006t0001g0186 a0005c0006t0001g0187 a0005c0006t0002g0082 a0005c0008t0002g0257 a0005c0008t0002g0258 a0005c0008t0002g0268 a0005c0008t0002g0269 a0005c0008t0002g0271 a0005c0008t0002g0272 a0005c0008t0002g0302 a0005c0008t0002g0334 a0007c0007t0001g0201 a0007c0007t0001g0207 a0007c0007t0001g0210 a0007c0007t0001g0211 a0007c0007t0001g0214 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0290 a0007c0007t0001g0356 a0007c0007t0020g0355 a0007c0012t0001g0184 a0007c0012t0001g0202 a0007c0012t0001g0203 a0007c0012t0001g0316 a0010c0042t0002g0350 a0010c0043t0003g0354 a0013c0017t0003g0196 a0013c0017t0003g0200 a0013c0017t0021g0116 a0015c0052t0002g0077 a0018c0044t0002g0230 a0022c0048t0005g0026 a0023c0046t0002g0037 a0026c0047t0012g0270 a0027c0045t0011g0145 a0030c0051t0001g0174 a0031c0026t0003g0307 a0032c0034t0001g0104 a0033c0050t0001g0126 a0034c0032t0002g0280	275	343	0.8017	-18557	c.223 others(19): Show c.2237-1030_3587-1030del		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	14/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CSAG1_chrX_152722484_152738721	152728157	G G	C C	stop_gained stop_gained	HIGH	HG00280.hp1 HG00741.hp1 HG01168.hp1 others(19): Show HG00280.hp1 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG02004.hp1 HG02071.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02886.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp2 NA18986.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0004 a0003c0003t0003 a0003c0003t0004	a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 others(6): Show a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0004g0047	22	316	0.0696	0	c.84C others(2): Show c.84C>G	p.Tyr others(3): Show p.Tyr28*	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	3/4	182/645	84/237	28/78			chrX	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 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 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0009 a0008c0010 a0010c0013 a0011c0014 a0012c0018 a0014c0020 a0016c0019 a0017c0021 a0018c0022	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0009t0001 a0007c0009t0002 a0008c0010t0002 a0010c0013t0002 a0011c0014t0001 a0012c0018t0002 a0014c0020t0001 a0016c0019t0001 a0017c0021t0002 a0018c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0002g0375 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0200 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0235 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0002g0261 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0309 a0001c0004t0002g0320 a0001c0004t0002g0321 a0001c0004t0002g0323 a0001c0004t0002g0326 a0001c0004t0002g0342 a0001c0004t0002g0344 a0001c0004t0002g0373 a0001c0004t0002g0374 a0001c0012t0001g0043 a0001c0012t0001g0044 a0001c0017t0001g0225 a0005c0007t0002g0283 a0005c0007t0002g0301 a0005c0007t0002g0315 a0005c0007t0002g0316 a0005c0007t0002g0318 a0005c0007t0002g0319 a0005c0007t0002g0329 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0002g0270 a0008c0010t0002g0291 a0008c0010t0002g0292 a0008c0010t0002g0295 a0010c0013t0002g0274 a0010c0013t0002g0328 a0011c0014t0001g0123 a0011c0014t0001g0124 a0012c0018t0002g0339 a0014c0020t0001g0195 a0016c0019t0001g0234 a0017c0021t0002g0287 a0018c0022t0001g0210	242	384	0.6302	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734			chr3	TogoVar
CTAGE4_chr7_144178466_144191080	144185835	T T	C C	stop_lost stop_lost	HIGH	HG01257.hp2 HG01261.hp1 HG01358.hp1 others(1): Show HG01257.hp2 HG01261.hp1 HG01358.hp1 NA20752.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0000 a0006c0005t0004g0000	4	392	0.0102	0	c.233 others(4): Show c.2332T>C	p.Ter others(11): Show p.Ter778Argext*?	CTAGE4	ENSG00000288784.1	transcript	ENST00000486333.2	protein_coding	1/1	2370/2615	2332/2334	778/777			chr7	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 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 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.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 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.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 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7						chr9	TogoVar
DAZ2_chrY_23214533_23296356	23247631	GGAGAGTA others(2365): Show GGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCCTTATAAGCAG TTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATT CTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTTGAAATGATTG CCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATATTCTGGTTCT GGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATATAAACCCGGTG AGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGATATTTAAAGT AGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATCGTTTATTTTC TTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGAC AGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCTGTGTCTCTAA TTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTT TTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCG TTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTAAC TGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATAC TTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATG AAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCCTACAAT ATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAA TGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACC AGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAA TTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCACACCCAA AGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCATTCATTT GGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTTTGTAAT ATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAATGTGGTT TACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCTTATCCA AATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATACAATTA TCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATTATTGAG GCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTTTTAACT AGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATGAAGACC TCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATATCCTTG GCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCCCTTCTT CATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAATGAAACA TCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAATAAAAT TATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCATTTTAGC TGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGATACAAGT ATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGAGCTAGT ATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAAAGGTGA AGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACATAAAGTA CTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAGACAGCG GAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAATATGTAG GAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTTTAAAGA TGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCCTTGAC GTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTT CCATGTCCTATATGCCTATAAATATTTTTAAGTGATTCTTTATATTAATT TTTTTGTCGTTGTTACTTTCTTGTTAACCCGATTATGAACTCCCATGGGA GCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGCCTAAGCAATGGCA GGTCCACATAATGATAGACTATATAATCACAGAAAAGTAGTATTCACTTG ACTTTAGAATTATCACGTATCTGCCAATAATCTGCCTCTGGCTTTACCAG CAATAGAAAATTTATAGAAGAGAAACAGAATTGCTTTGCTGTTAATGACG CTTAAATAAGAACAGGAGTGAAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG03139.hp1 HG03579.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0043	8	52	0.1538	-2372	c.107 others(19): Show c.1075-1114_1147-1125del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28					INFO_REALIGN_3_PRIME	chrY	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000	268	454	0.5903	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244			chr5	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331			chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0007c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0001t0078 a0001c0002t0001 a0001c0002t0024 a0001c0002t0028 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0094 a0001c0004t0118 a0001c0004t0123 a0001c0008t0098 a0001c0024t0027 a0002c0022t0008 a0003c0007t0009 a0007c0023t0113	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0020g0296 a0001c0001t0029g0289 a0001c0001t0031g0039 a0001c0001t0031g0152 a0001c0001t0032g0042 a0001c0001t0032g0055 a0001c0001t0056g0046 a0001c0001t0058g0153 a0001c0001t0059g0314 a0001c0001t0060g0041 a0001c0001t0061g0284 a0001c0001t0062g0096 a0001c0001t0063g0154 a0001c0001t0064g0095 a0001c0001t0077g0057 a0001c0001t0078g0165 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0002t0028g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0025g0139 a0001c0003t0025g0186 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0094g0212 a0001c0004t0118g0013 a0001c0004t0123g0061 a0001c0008t0098g0195 a0001c0024t0027g0033 a0002c0022t0008g0161 a0003c0007t0009g0248 a0007c0023t0113g0156	69	83	0.8313	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG00609.hp1 HG01358.hp1 others(8): Show HG00423.hp2 HG00609.hp1 HG01358.hp1 HG01928.hp1 HG02145.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 NA18950.hp2 NA18986.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0095 a0001c0003t0006 a0001c0003t0112 a0001c0006t0021 a0002c0005t0001 a0002c0005t0007	a0001c0001t0012g0232 a0001c0002t0001g0180 a0001c0002t0002g0019 others(8): Show a0001c0001t0012g0232 a0001c0002t0001g0180 a0001c0002t0002g0019 a0001c0002t0095g0099 a0001c0003t0006g0304 a0001c0003t0112g0064 a0001c0006t0021g0038 a0002c0005t0001g0102 a0002c0005t0001g0118 a0002c0005t0001g0192 a0002c0005t0007g0129	11	25	0.4400	12	c.623 others(24): Show c.623-14_623-3dupTTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0140 a0001c0001t0003g0006 a0001c0001t0003g0049 a0001c0001t0004g0149 a0001c0001t0005g0038 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0005 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0009g0042 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0011g0039 a0001c0001t0012g0003 a0001c0001t0012g0145 a0001c0001t0013g0013 a0001c0001t0014g0146 a0001c0001t0017g0106 a0001c0001t0018g0148 a0001c0001t0019g0143 a0001c0001t0021g0114 a0001c0003t0001g0116 a0001c0004t0001g0142	56	139	0.4029	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26					INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	163	402	0.4055	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334			chr10	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0003c0027 a0004c0008 a0005c0009 a0006c0011 a0008c0019 a0009c0023 a0010c0031 a0011c0026 a0012c0029 a0013c0035 a0014c0021 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0003c0027t0008 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0005 a0006c0011t0007 a0008c0019t0002 a0009c0023t0001 a0010c0031t0003 a0011c0026t0003 a0012c0029t0005 a0013c0035t0011 a0014c0021t0002 a0015c0030t0005	a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0247 a0001c0001t0009g0024 a0001c0001t0009g0331 a0001c0001t0010g0278 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0003g0341 a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0001c0007t0013g0239 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0015t0010g0179 a0001c0015t0010g0246 a0002c0004t0001g0035 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0055 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0097 a0002c0004t0001g0249 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0003g0037 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0046 a0002c0004t0003g0049 a0002c0004t0003g0052 a0002c0004t0003g0053 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0285 a0002c0004t0015g0040 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0116 a0002c0005t0001g0117 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0136 a0002c0005t0001g0152 a0002c0005t0001g0155 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0189 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0241 a0002c0005t0003g0123 a0002c0005t0003g0145 a0002c0005t0003g0231 a0002c0005t0003g0240 a0002c0022t0001g0131 a0003c0016t0002g0206 a0003c0016t0002g0272 a0003c0027t0008g0236 a0004c0008t0001g0002 a0004c0008t0001g0232 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0004c0008t0001g0267 a0004c0008t0003g0207 a0005c0009t0001g0147 a0005c0009t0005g0012 a0005c0009t0005g0146 a0005c0009t0005g0148 a0005c0009t0005g0238 a0005c0009t0005g0274 a0006c0011t0007g0004 a0006c0011t0007g0029 a0006c0011t0007g0030 a0006c0011t0007g0031 a0008c0019t0002g0304 a0008c0019t0002g0327 a0009c0023t0001g0132 a0010c0031t0003g0248 a0011c0026t0003g0188 a0012c0029t0005g0137 a0013c0035t0011g0098 a0014c0021t0002g0183 a0015c0030t0005g0149	212	372	0.5699	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20						chr20	TogoVar
EBLN1_chr10_22203475_22223015	22212966	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00639.hp2 HG00733.hp2 HG01346.hp1 others(7): Show HG00639.hp2 HG00733.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG02148.hp2 HG03654.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0056	10	430	0.0233	0	c.-16 others(6): Show c.-168-1G>T		EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	1/2						chr10	TogoVar
EFCAB2_chr1_244964682_245092837	244970321	T T	TCCTCC TCCTCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0011g0278 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0004g0033 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0054 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0004g0072 a0001c0002t0004g0112	114	288	0.3958	5	c.-90 others(16): Show c.-90-7_-90-3dupCCTCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.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 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0006 a0004c0015 a0005c0010 a0005c0011 a0005c0014 a0006c0012 a0006c0016 a0006c0023 a0007c0009 a0008c0013 a0008c0017 a0009c0030 a0010c0024 a0011c0028 a0012c0027 a0013c0029 a0014c0019 a0015c0025 a0016c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0006t0004 a0004c0015t0004 a0005c0010t0011 a0005c0011t0001 a0005c0014t0011 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0009t0010 a0007c0009t0023 a0008c0013t0007 a0008c0017t0002 a0009c0030t0001 a0010c0024t0033 a0011c0028t0003 a0012c0027t0010 a0013c0029t0010 a0014c0019t0010 a0015c0025t0001 a0016c0020t0047	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0215 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0143 a0001c0001t0005g0148 a0001c0001t0005g0155 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0006 a0001c0001t0006g0041 a0001c0001t0006g0044 a0001c0001t0007g0111 a0001c0001t0007g0119 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0197 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0171 a0001c0001t0016g0039 a0001c0001t0017g0016 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0211 a0001c0001t0024g0140 a0001c0001t0024g0141 a0001c0001t0027g0064 a0001c0001t0028g0008 a0001c0001t0029g0004 a0001c0001t0037g0127 a0001c0001t0038g0180 a0001c0001t0040g0097 a0001c0001t0045g0200 a0001c0001t0046g0105 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0113 a0001c0002t0005g0134 a0001c0002t0005g0222 a0001c0002t0014g0136 a0001c0002t0014g0156 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0139 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0157 a0001c0002t0039g0108 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0126 a0001c0002t0049g0095 a0001c0002t0050g0225 a0001c0021t0002g0009 a0001c0026t0001g0203 a0002c0003t0001g0167 a0002c0003t0002g0007 a0002c0003t0003g0094 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0096 a0002c0003t0012g0214 a0002c0003t0012g0217 a0002c0003t0012g0220 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0216 a0002c0007t0002g0052 a0002c0007t0021g0077 a0002c0007t0030g0053 a0002c0007t0034g0076 a0002c0008t0001g0170 a0002c0008t0001g0221 a0002c0008t0016g0057 a0002c0008t0021g0079 a0002c0018t0035g0078 a0003c0004t0004g0086 a0003c0004t0004g0089 a0003c0004t0004g0150 a0003c0004t0004g0219 a0003c0004t0023g0158 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0027 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0029 a0003c0005t0013g0030 a0003c0005t0013g0032 a0004c0006t0004g0087 a0004c0006t0004g0138 a0004c0006t0004g0207 a0004c0006t0004g0208 a0004c0006t0004g0209 a0004c0006t0004g0210 a0004c0015t0004g0117 a0005c0010t0011g0071 a0005c0010t0011g0072 a0005c0010t0011g0080 a0005c0011t0001g0159 a0005c0011t0001g0160 a0005c0014t0011g0069 a0005c0014t0011g0070 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0151 a0006c0023t0002g0013 a0007c0009t0010g0049 a0007c0009t0010g0050 a0007c0009t0023g0202 a0008c0013t0007g0129 a0008c0013t0007g0130 a0008c0017t0002g0028 a0009c0030t0001g0188 a0010c0024t0033g0074 a0011c0028t0003g0122 a0012c0027t0010g0036 a0013c0029t0010g0037 a0014c0019t0010g0005 a0015c0025t0001g0102 a0016c0020t0047g0204	221	226	0.9779	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22						chr5	TogoVar
ERICH6_chr3_150654885_150708920	150686355	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	346	0.0029	0	c.554 others(5): Show c.554-1G>A		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	3/13						chr3	TogoVar
FAM187B_chr19_35219800_35233739	35228117	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0005 a0002c0006 others(3): Show a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0009 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0009t0001 a0007c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0006t0001g0007 a0002c0006t0001g0032 a0002c0008t0001g0014 a0002c0009t0001g0022 a0002c0009t0001g0031 a0007c0014t0001g0026	126	448	0.2813	0	c.564 others(3): Show c.564G>A	p.Trp others(4): Show p.Trp188*	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding	1/2	623/1194	564/1110	188/369			chr19	TogoVar

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