Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0004t0002 a0002c0004t0024 a0002c0004t0026 a0002c0004t0040 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0002c0020t0002 a0002c0020t0041 a0002c0021t0025 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0136 a0002c0004t0024g0006 a0002c0004t0026g0030 a0002c0004t0040g0011 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0041g0020 a0002c0021t0025g0084 a0002c0022t0002g0020	73	430	0.1698	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ABCB5_chr7_20610667_20762008	20626612	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1	a0002 a0003 a0005 others(10): Show a0002 a0003 a0005 a0008 a0010 a0013 a0034 a0037 a0060 a0061 a0064 a0065 a0066	a0002c0003 a0003c0002 a0003c0010 others(13): Show a0002c0003 a0003c0002 a0003c0010 a0005c0015 a0008c0009 a0008c0027 a0010c0017 a0013c0022 a0013c0023 a0034c0052 a0037c0055 a0060c0051 a0061c0058 a0064c0054 a0065c0050 a0066c0057	a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 others(19): Show a0002c0003t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0003c0010t0002 a0005c0015t0004 a0008c0009t0001 a0008c0009t0002 a0008c0027t0001 a0008c0027t0002 a0010c0017t0007 a0013c0022t0001 a0013c0022t0021 a0013c0023t0001 a0034c0052t0002 a0037c0055t0001 a0060c0051t0001 a0061c0058t0001 a0064c0054t0001 a0065c0050t0001 a0066c0057t0008	a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0158 a0003c0002t0001g0160 a0003c0002t0001g0164 a0003c0002t0001g0166 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0178 a0003c0002t0001g0181 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0328 a0003c0002t0001g0331 a0003c0002t0002g0147 a0003c0002t0002g0159 a0003c0002t0002g0171 a0003c0002t0002g0187 a0003c0002t0015g0334 a0003c0010t0001g0133 a0003c0010t0001g0163 a0003c0010t0001g0199 a0003c0010t0001g0205 a0003c0010t0001g0333 a0003c0010t0002g0149 a0003c0010t0002g0188 a0003c0010t0002g0201 a0003c0010t0002g0332 a0005c0015t0004g0215 a0008c0009t0001g0157 a0008c0009t0001g0168 a0008c0009t0001g0179 a0008c0009t0001g0183 a0008c0009t0001g0190 a0008c0009t0001g0195 a0008c0009t0001g0348 a0008c0009t0002g0173 a0008c0009t0002g0177 a0008c0009t0002g0184 a0008c0027t0001g0162 a0008c0027t0002g0330 a0010c0017t0007g0054 a0013c0022t0001g0180 a0013c0022t0021g0161 a0013c0023t0001g0174 a0013c0023t0001g0175 a0013c0023t0001g0182 a0034c0052t0002g0204 a0037c0055t0001g0203 a0060c0051t0001g0176 a0061c0058t0001g0165 a0064c0054t0001g0167 a0065c0050t0001g0329 a0066c0057t0008g0202	70	358	0.1955	0	c.108 others(5): Show c.108+1G>C		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27					chr7	TogoVar
ACR_chr22_50733204_50750339	50738236	A A	G G	start_lost start_lost	HIGH	HG00423.hp1 HG02135.hp1 HG02165.hp2 others(1): Show HG00423.hp1 HG02135.hp1 HG02165.hp2 NA18612.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0005 a0004c0006t0001g0005	4	462	0.0087	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	1/5	33/1430	1/1266	1/421		chr22	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
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
ADH4_chr4_99118658_99149297	99131503	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	336	0.0030	0	c.843 others(5): Show c.843+1G>A		ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	6/8					chr4	TogoVar
AGAP6_chr10_49983406_50015499	49988921	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00733.hp1 others(17): Show HG00140.hp2 HG00544.hp1 HG00733.hp1 HG01123.hp1 HG02135.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18948.hp2 NA18989.hp1 NA19009.hp1 NA19076.hp2 NA19091.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0027 a0004c0004 a0004c0026 a0004c0027	a0004c0004t0004 a0004c0026t0004 a0004c0027t0011 a0004c0004t0004 a0004c0026t0004 a0004c0027t0011	a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 others(8): Show a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 a0004c0004t0004g0121 a0004c0004t0004g0122 a0004c0004t0004g0123 a0004c0004t0004g0125 a0004c0004t0004g0126 a0004c0004t0004g0127 a0004c0026t0004g0124 a0004c0027t0011g0186	20	404	0.0495	-1	c.208 others(4): Show c.208delC	p.Arg others(4): Show p.Arg70fs	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	1/8	518/2684	208/2061	70/686	INFO_REALIGN_3_PRIME	chr10	TogoVar
AICDA_chr12_8597170_8617859	8605412	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show HG01261.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp2 HG03225.hp2 HG03490.hp1 NA18941.hp1 NA18946.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp2 NA18985.hp1 NA19005.hp2 NA19056.hp2 NA19072.hp1 NA19083.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0010 a0002c0003 a0002c0004 a0002c0010	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(5): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0023 a0002c0004t0001 a0002c0004t0008 a0002c0010t0003	a0002c0003t0001g0016 a0002c0003t0001g0078 a0002c0003t0001g0082 others(20): Show a0002c0003t0001g0016 a0002c0003t0001g0078 a0002c0003t0001g0082 a0002c0003t0001g0151 a0002c0003t0001g0153 a0002c0003t0001g0179 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0002g0133 a0002c0003t0002g0212 a0002c0003t0003g0038 a0002c0003t0010g0081 a0002c0003t0023g0239 a0002c0004t0001g0087 a0002c0004t0001g0095 a0002c0004t0001g0112 a0002c0004t0001g0129 a0002c0004t0001g0134 a0002c0004t0001g0152 a0002c0004t0001g0154 a0002c0004t0008g0101 a0002c0004t0008g0136 a0002c0010t0003g0135	27	454	0.0595	1	c.229 others(4): Show c.229dupC	p.Arg others(4): Show p.Arg77fs	AICDA	ENSG00000111732.12	transcript	ENST00000229335.11	protein_coding	3/5	321/2803	229/597	77/198		chr12	TogoVar
AMD1_chr6_110869785_110900713	110892724	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0004g0015 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0012 a0001c0001t0005g0028 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0006g0005 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0008g0031 a0001c0001t0009g0012 a0001c0001t0010g0004 a0001c0001t0011g0003 a0001c0001t0013g0047 a0001c0001t0014g0014	208	378	0.5503	1	c.616 others(6): Show c.616-3dupC		AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKDD1B_chr5_75606453_75676846	75666988	G G	A A	stop_gained stop_gained	HIGH	HG02027.hp2 HG02056.hp1 HG02132.hp1 others(3): Show HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp2 NA18962.hp2 NA19063.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0009 a0009c0010t0009	a0009c0010t0009g0009 a0009c0010t0009g0010 a0009c0010t0009g0041 others(1): Show a0009c0010t0009g0009 a0009c0010t0009g0010 a0009c0010t0009g0041 a0009c0010t0009g0042	6	370	0.0162	0	c.138 others(4): Show c.1388G>A	p.Trp others(4): Show p.Trp463*	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	12/14	1570/2575	1388/1587	463/528		chr5	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0010 a0004c0007t0001 a0001c0001t0001 a0001c0001t0010 a0004c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(55): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0010g0317 a0004c0007t0001g0367	64	396	0.1616	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
APOL4_chr22_36184128_36206809	36201698	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01106.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp2 HG02165.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 NA18943.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19067.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0003c0018 a0004c0006 a0005c0008 a0006c0011	a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 a0002c0002t0023 a0002c0003t0019 a0002c0005t0005 a0003c0004t0006 a0003c0004t0010 a0003c0004t0017 a0003c0018t0018 a0004c0006t0008 a0005c0008t0001 a0006c0011t0014	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0055 others(27): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0028g0061 a0002c0002t0002g0025 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0023g0074 a0002c0003t0019g0064 a0002c0005t0005g0007 a0002c0005t0005g0031 a0002c0005t0005g0063 a0003c0004t0006g0069 a0003c0004t0010g0070 a0003c0004t0010g0071 a0003c0004t0017g0054 a0003c0018t0018g0060 a0004c0006t0008g0014 a0004c0006t0008g0072 a0004c0006t0008g0073 a0005c0008t0001g0024 a0005c0008t0001g0057 a0006c0011t0014g0030	58	432	0.1343	0	c.35+ others(4): Show c.35+2T>G		APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	1/3					chr22	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
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0009g0002 a0001c0001t0013g0144 a0001c0001t0015g0133 a0001c0001t0019g0132 a0001c0001t0020g0055 a0001c0001t0025g0031	113	402	0.2811	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0002t0022 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0112 a0001c0001t0003g0179 a0001c0001t0004g0040 a0001c0001t0006g0028 a0001c0001t0006g0110 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0007g0002 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0113 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0128 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0010g0080 a0001c0001t0010g0125 a0001c0001t0010g0148 a0001c0001t0010g0242 a0001c0001t0010g0247 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0012g0127 a0001c0001t0012g0134 a0001c0001t0012g0152 a0001c0001t0014g0001 a0001c0001t0014g0072 a0001c0001t0014g0090 a0001c0001t0015g0057 a0001c0001t0015g0063 a0001c0001t0019g0170 a0001c0001t0020g0173 a0001c0001t0021g0029 a0001c0001t0023g0059 a0001c0001t0024g0009 a0001c0001t0028g0011 a0001c0001t0029g0255 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0017g0043 a0001c0002t0018g0044 a0001c0002t0022g0067 a0001c0003t0004g0049 a0001c0004t0007g0164 a0001c0006t0006g0178 a0001c0007t0004g0033 a0001c0008t0003g0085 a0001c0011t0002g0143 a0002c0012t0006g0169	173	352	0.4915	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0013 a0018 a0022	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0008c0013 a0010c0014 a0011c0026 a0013c0019 a0018c0033 a0022c0018	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0008c0013t0012 a0010c0014t0001 a0011c0026t0001 a0013c0019t0001 a0018c0033t0012 a0022c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0009g0236 a0001c0001t0009g0255 a0001c0001t0009g0261 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 a0001c0001t0013g0235 a0001c0001t0013g0275 a0001c0001t0014g0152 a0001c0001t0014g0274 a0001c0001t0014g0278 a0001c0001t0016g0010 a0001c0001t0017g0176 a0001c0001t0018g0002 a0001c0001t0018g0293 a0001c0001t0019g0244 a0001c0001t0019g0251 a0001c0001t0023g0003 a0001c0001t0025g0267 a0001c0001t0026g0189 a0001c0001t0027g0256 a0001c0001t0028g0289 a0001c0001t0034g0153 a0001c0008t0016g0116 a0001c0008t0016g0117 a0001c0010t0031g0032 a0001c0020t0001g0272 a0001c0024t0001g0238 a0001c0025t0001g0273 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0297 a0003c0003t0001g0298 a0004c0004t0004g0001 a0004c0004t0004g0169 a0004c0004t0004g0170 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0181 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0005g0005 a0005c0006t0005g0166 a0005c0006t0005g0167 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0175 a0005c0006t0005g0180 a0005c0006t0030g0168 a0006c0007t0001g0151 a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0161 a0006c0007t0001g0162 a0006c0007t0009g0163 a0008c0013t0012g0118 a0008c0013t0012g0120 a0008c0013t0012g0121 a0010c0014t0001g0214 a0010c0014t0001g0280 a0011c0026t0001g0228 a0013c0019t0001g0208 a0018c0033t0012g0119 a0022c0018t0001g0229	159	299	0.5318	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP4A_chr19_35545031_35568658	35562515	G G	GGCACTGC others(13): Show GGCACTGCAGGCCCCCGGCCA	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02135.hp1	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0001 a0007c0031t0001	a0007c0031t0001g0178 a0007c0031t0001g0178	1	424	0.0024	20	c.320 others(27): Show c.320_339dupTGGCCGGGGGCCTGCAGTGC	p.Leu others(5): Show p.Leu114fs	ATP4A	ENSG00000105675.9	transcript	ENST00000262623.4	protein_coding	4/22	368/3721	339/3108	113/1035		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63237961	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00741.hp2 HG01106.hp2 others(9): Show HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01928.hp2 HG02135.hp1 HG02145.hp2 HG02970.hp2 NA18992.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19091.hp1	a0003 a0003	a0003c0008 a0003c0010 a0003c0011 others(1): Show a0003c0008 a0003c0010 a0003c0011 a0003c0021	a0003c0008t0001 a0003c0010t0001 a0003c0011t0001 others(1): Show a0003c0008t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001	a0003c0008t0001g0003 a0003c0008t0001g0018 a0003c0010t0001g0001 others(3): Show a0003c0008t0001g0003 a0003c0008t0001g0018 a0003c0010t0001g0001 a0003c0010t0001g0015 a0003c0011t0001g0002 a0003c0021t0001g0005	12	298	0.0403	1	c.412 others(4): Show c.412dupG	p.Asp others(5): Show p.Asp138fs	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding	2/7	605/1334	413/897	138/298	INFO_REALIGN_3_PRIME	chr20	TogoVar
BTN3A2_chr6_26360198_26383312	26368051	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03669.hp2 HG03927.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18976.hp1 NA18983.hp1 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0003 a0004c0005t0049 a0005c0006t0003 a0004c0005t0003 a0004c0005t0049 a0005c0006t0003	a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 a0004c0005t0003g0056 a0004c0005t0049g0001 a0005c0006t0003g0001 a0005c0006t0003g0029 a0005c0006t0003g0057 a0005c0006t0003g0058	35	380	0.0921	0	c.-6+ others(4): Show c.-6+1G>A		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	2/10					chr6	TogoVar
BTNL2_chr6_32388339_32412181	32403192	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0003c0008 a0003c0012 others(3): Show a0003c0004 a0003c0008 a0003c0012 a0003c0020 a0003c0021 a0006c0007	a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 others(3): Show a0003c0004t0002 a0003c0008t0001 a0003c0012t0002 a0003c0020t0002 a0003c0021t0002 a0006c0007t0001	a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0176 a0003c0004t0002g0177 a0003c0004t0002g0178 a0003c0004t0002g0179 a0003c0004t0002g0180 a0003c0004t0002g0181 a0003c0004t0002g0182 a0003c0004t0002g0183 a0003c0004t0002g0184 a0003c0008t0001g0006 a0003c0008t0001g0027 a0003c0008t0001g0118 a0003c0008t0001g0119 a0003c0008t0001g0120 a0003c0008t0001g0121 a0003c0008t0001g0122 a0003c0012t0002g0070 a0003c0020t0002g0175 a0003c0021t0002g0185 a0006c0007t0001g0005 a0006c0007t0001g0029 a0006c0007t0001g0054 a0006c0007t0001g0123	69	452	0.1527	-1	c.451 others(4): Show c.451delC	p.His others(5): Show p.His151fs	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	3/8	509/1564	451/1449	151/482		chr6	TogoVar
C13orf46_chr13_113948705_113979076	113968465	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(94): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0008t0002 a0002c0002t0004 a0002c0002t0038 a0002c0002t0039 a0003c0003t0012 a0004c0004t0001 a0004c0004t0023 a0005c0006t0002 a0006c0007t0002 a0007c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0047 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0167 a0001c0001t0005g0006 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0044 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0155 a0001c0001t0007g0008 a0001c0001t0007g0105 a0001c0001t0007g0174 a0001c0001t0008g0007 a0001c0001t0008g0033 a0001c0001t0009g0011 a0001c0001t0009g0143 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0010g0055 a0001c0001t0010g0190 a0001c0001t0010g0199 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0232 a0001c0001t0011g0018 a0001c0001t0011g0026 a0001c0001t0011g0076 a0001c0001t0011g0078 a0001c0001t0013g0034 a0001c0001t0013g0101 a0001c0001t0013g0104 a0001c0001t0013g0110 a0001c0001t0013g0113 a0001c0001t0014g0028 a0001c0001t0014g0081 a0001c0001t0014g0082 a0001c0001t0014g0083 a0001c0001t0014g0084 a0001c0001t0015g0015 a0001c0001t0015g0133 a0001c0001t0015g0234 a0001c0001t0016g0022 a0001c0001t0016g0130 a0001c0001t0017g0052 a0001c0001t0017g0207 a0001c0001t0017g0227 a0001c0001t0018g0069 a0001c0001t0018g0070 a0001c0001t0018g0072 a0001c0001t0018g0074 a0001c0001t0019g0041 a0001c0001t0019g0116 a0001c0001t0019g0129 a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 a0001c0001t0022g0020 a0001c0001t0023g0042 a0001c0001t0024g0021 a0001c0001t0025g0053 a0001c0001t0026g0093 a0001c0001t0026g0097 a0001c0001t0027g0030 a0001c0001t0028g0031 a0001c0001t0029g0050 a0001c0001t0030g0180 a0001c0001t0030g0182 a0001c0001t0031g0200 a0001c0001t0032g0123 a0001c0001t0032g0124 a0001c0001t0033g0141 a0001c0001t0033g0145 a0001c0001t0034g0046 a0001c0001t0035g0151 a0001c0001t0035g0166 a0001c0001t0036g0043 a0001c0001t0037g0060 a0001c0001t0040g0169 a0001c0001t0041g0177 a0001c0001t0042g0226 a0001c0001t0043g0224 a0001c0001t0044g0212 a0001c0001t0045g0183 a0001c0001t0047g0092 a0001c0001t0048g0178 a0001c0001t0049g0176 a0001c0001t0050g0073 a0001c0001t0051g0077 a0001c0001t0052g0075 a0001c0001t0053g0112 a0001c0001t0054g0111 a0001c0001t0055g0103 a0001c0001t0056g0175 a0001c0001t0057g0107 a0001c0001t0058g0100 a0001c0001t0059g0106 a0001c0001t0060g0102 a0001c0001t0061g0109 a0001c0001t0062g0193 a0001c0001t0063g0208 a0001c0001t0064g0202 a0001c0001t0065g0216 a0001c0001t0066g0191 a0001c0001t0067g0185 a0001c0001t0068g0218 a0001c0001t0069g0205 a0001c0001t0070g0196 a0001c0001t0071g0108 a0001c0001t0072g0206 a0001c0001t0073g0144 a0001c0001t0074g0125 a0001c0001t0075g0235 a0001c0001t0076g0089 a0001c0001t0077g0161 a0001c0001t0078g0088 a0001c0001t0079g0171 a0001c0001t0080g0146 a0001c0001t0081g0120 a0001c0001t0082g0147 a0001c0001t0083g0117 a0001c0001t0084g0118 a0001c0001t0085g0080 a0001c0001t0086g0148 a0001c0001t0087g0135 a0001c0001t0088g0149 a0001c0001t0089g0165 a0001c0001t0090g0119 a0001c0001t0091g0150 a0001c0001t0092g0099 a0001c0001t0093g0152 a0001c0008t0002g0198 a0002c0002t0004g0012 a0002c0002t0004g0017 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0066 a0002c0002t0038g0065 a0002c0002t0039g0061 a0003c0003t0012g0009 a0003c0003t0012g0067 a0004c0004t0001g0236 a0004c0004t0023g0237 a0005c0006t0002g0189 a0006c0007t0002g0197 a0007c0005t0002g0068	405	412	0.9830	0	c.456 others(5): Show c.456+2T>C		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	4/6					chr13	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	440	0.2136	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190		chr17	TogoVar
CARD8_chr19_48203086_48260912	48231760	C C	CTT CTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show HG00642.hp2 HG01109.hp1 HG02135.hp2 HG02738.hp2 HG03239.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp1 NA18961.hp2 NA18972.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19067.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0019 a0003c0006 a0003c0009 a0003c0019	a0003c0006t0003 a0003c0006t0007 a0003c0006t0016 others(3): Show a0003c0006t0003 a0003c0006t0007 a0003c0006t0016 a0003c0006t0043 a0003c0009t0002 a0003c0019t0007	a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 others(16): Show a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 a0003c0006t0003g0172 a0003c0006t0003g0173 a0003c0006t0003g0174 a0003c0006t0003g0175 a0003c0006t0003g0176 a0003c0006t0003g0180 a0003c0006t0007g0057 a0003c0006t0016g0248 a0003c0006t0016g0279 a0003c0006t0043g0056 a0003c0009t0002g0131 a0003c0009t0002g0132 a0003c0009t0002g0133 a0003c0009t0002g0142 a0003c0009t0002g0171 a0003c0019t0007g0136	19	360	0.0528	2	c.440 others(9): Show c.440_441dupAA	p.Val others(5): Show p.Val148fs	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	8/14	813/5610	441/1614	147/537		chr19	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0012 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0012t0022 a0008c0009t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0193 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0005g0056 a0001c0001t0006g0012 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0188 a0001c0001t0014g0126 a0001c0001t0018g0130 a0001c0005t0004g0048 a0001c0005t0004g0049 a0001c0005t0004g0050 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0197 a0002c0002t0009g0175 a0002c0002t0009g0194 a0002c0002t0009g0195 a0002c0002t0009g0196 a0002c0002t0012g0144 a0002c0002t0012g0160 a0002c0002t0023g0149 a0002c0008t0002g0141 a0003c0003t0008g0022 a0003c0003t0008g0131 a0003c0003t0011g0051 a0003c0003t0011g0052 a0003c0003t0021g0129 a0006c0012t0022g0178 a0008c0009t0002g0142	176	390	0.4513	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12					chr15	TogoVar
CBLC_chr19_44772890_44805652	44793589	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show HG00738.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0002c0007 a0004c0004 others(1): Show a0002c0002 a0002c0007 a0004c0004 a0009c0017	a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 a0009c0017t0001	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0129 a0002c0002t0001g0169 a0002c0002t0001g0183 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0272 a0002c0007t0001g0014 a0002c0007t0001g0044 a0002c0007t0001g0047 a0002c0007t0001g0052 a0002c0007t0001g0058 a0004c0004t0001g0059 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0115 a0009c0017t0001g0116	47	342	0.1374	1	c.125 others(5): Show c.1255dupC	p.Gln others(5): Show p.Gln419fs	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/11	1298/1576	1256/1425	419/474	INFO_REALIGN_3_PRIME	chr19	TogoVar
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
CCDC7_chr10_32441140_32887864	32518506	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01071.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0019 a0001 a0019	a0001c0002 a0019c0017 a0001c0002 a0019c0017	a0001c0002t0001 a0019c0017t0001 a0001c0002t0001 a0019c0017t0001	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 others(44): Show a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0019c0017t0001g0195	47	366	0.1284	0	c.993 others(5): Show c.993+1G>T		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	12/43					chr10	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
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0017 a0006c0015 a0010c0009	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0006t0002 a0003c0013t0001 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0017t0001 a0006c0015t0001 a0010c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0006t0002g0020 a0003c0006t0002g0062 a0003c0013t0001g0054 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0017t0001g0046 a0006c0015t0001g0079 a0010c0009t0001g0003	163	392	0.4158	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show HG01099.hp1 HG01106.hp1 HG01433.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG03225.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18941.hp1 NA18950.hp2 NA18966.hp2 NA19006.hp2 NA19054.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0009t0001g0030	20	408	0.0490	-32	c.184 others(41): Show c.1843_1874delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show HG00544.hp1 HG00597.hp2 HG01099.hp2 HG01106.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp2 HG02602.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18975.hp1 NA18977.hp1 NA19006.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19072.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0001c0001t0001 a0001c0001t0002 a0001c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0022t0001g0001	23	384	0.0599	1	c.194 others(5): Show c.1941dupC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0022 a0002c0004 a0002c0013 a0007c0010 a0011c0012 a0014c0014 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0017t0001 a0001c0022t0001 a0002c0004t0001 a0002c0013t0001 a0007c0010t0001 a0011c0012t0001 a0014c0014t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0003t0001g0013 a0001c0009t0001g0030 a0001c0017t0001g0001 a0001c0022t0001g0001 a0002c0004t0001g0037 a0002c0013t0001g0036 a0007c0010t0001g0003 a0011c0012t0001g0080 a0014c0014t0001g0064 a0018c0023t0001g0040	181	409	0.4425	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0014 others(5): Show a0001 a0009 a0014 a0015 a0017 a0020 a0021 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0014c0015 a0015c0024 a0017c0027 a0020c0018 a0021c0028 a0023c0017	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0014c0015t0001 a0015c0024t0001 a0017c0027t0001 a0020c0018t0001 a0021c0028t0001 a0023c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0014c0015t0001g0046 a0015c0024t0001g0107 a0017c0027t0001g0153 a0020c0018t0001g0096 a0021c0028t0001g0102 a0023c0017t0001g0136	175	482	0.3631	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CNTNAP3B_chr9_41885536_42134426	41953235	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp1 NA18970.hp2 NA19090.hp1 NA20905.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0017 a0028 a0030	a0001c0001 a0001c0012 a0001c0042 others(8): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0010c0013 a0017c0045 a0028c0038 a0030c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0010c0013t0003 a0017c0045t0002 a0028c0038t0002 a0030c0021t0027	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0010c0013t0003g0103 a0010c0013t0003g0108 a0017c0045t0002g0019 a0028c0038t0002g0016 a0030c0021t0027g0064	34	106	0.3208	0	c.202 others(4): Show c.2028C>A	p.Cys others(4): Show p.Cys676*	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	13/24	2360/7652	2028/3867	676/1288		chr9	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0129 a0001c0001t0003g0188 a0001c0001t0003g0202 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0012g0182 a0001c0001t0013g0134 a0001c0001t0014g0168 a0001c0001t0015g0201 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0006g0341 a0002c0002t0007g0325 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0176	134	368	0.3641	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
CRTC3_chr15_90524923_90650345	90638514	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp2 HG00735.hp1 others(28): Show HG00438.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp1 HG03831.hp2 NA18949.hp2 NA18954.hp1 NA19030.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0013 a0003c0014 others(1): Show a0003c0003 a0003c0013 a0003c0014 a0004c0005	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0034 a0003c0003t0037 a0003c0013t0004 a0003c0014t0028 a0004c0005t0001 a0004c0005t0003 a0004c0005t0025 a0004c0005t0043	a0003c0003t0001g0022 a0003c0003t0001g0045 a0003c0003t0001g0060 others(28): Show a0003c0003t0001g0022 a0003c0003t0001g0045 a0003c0003t0001g0060 a0003c0003t0001g0184 a0003c0003t0001g0204 a0003c0003t0001g0210 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0233 a0003c0003t0001g0242 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0003t0002g0162 a0003c0003t0002g0241 a0003c0003t0003g0019 a0003c0003t0003g0145 a0003c0003t0003g0174 a0003c0003t0003g0246 a0003c0003t0003g0265 a0003c0003t0008g0032 a0003c0003t0034g0031 a0003c0003t0037g0144 a0003c0013t0004g0014 a0003c0014t0028g0253 a0004c0005t0001g0084 a0004c0005t0001g0091 a0004c0005t0003g0086 a0004c0005t0025g0088 a0004c0005t0043g0132	31	274	0.1131	1	c.134 others(5): Show c.1340dupC	p.Tyr others(5): Show p.Tyr448fs	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	12/15	1490/5214	1341/1860	447/619	INFO_REALIGN_3_PRIME	chr15	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
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
CYP2F1_chr19_41109432_41133381	41116202	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0005 others(11): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0017 a0002c0018 a0002c0019 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0002c0034	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0003t0003 a0002c0005t0002 a0002c0005t0006 a0002c0005t0010 a0002c0005t0014 a0002c0010t0003 a0002c0017t0002 a0002c0018t0003 a0002c0019t0002 a0002c0028t0003 a0002c0029t0003 a0002c0030t0002 a0002c0031t0002 a0002c0032t0002 a0002c0033t0002 a0002c0034t0002	a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0131 a0002c0002t0011g0020 a0002c0002t0017g0121 a0002c0003t0003g0021 a0002c0003t0003g0037 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0113 a0002c0003t0003g0114 a0002c0003t0003g0129 a0002c0003t0003g0133 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0146 a0002c0003t0003g0148 a0002c0003t0003g0158 a0002c0005t0002g0030 a0002c0005t0002g0031 a0002c0005t0002g0057 a0002c0005t0002g0058 a0002c0005t0002g0063 a0002c0005t0002g0064 a0002c0005t0002g0065 a0002c0005t0006g0040 a0002c0005t0006g0117 a0002c0005t0006g0118 a0002c0005t0006g0119 a0002c0005t0006g0120 a0002c0005t0006g0155 a0002c0005t0006g0156 a0002c0005t0010g0031 a0002c0005t0010g0069 a0002c0005t0010g0070 a0002c0005t0014g0067 a0002c0010t0003g0132 a0002c0010t0003g0145 a0002c0010t0003g0147 a0002c0010t0003g0149 a0002c0010t0003g0162 a0002c0017t0002g0088 a0002c0017t0002g0089 a0002c0018t0003g0115 a0002c0018t0003g0116 a0002c0019t0002g0068 a0002c0019t0002g0071 a0002c0028t0003g0134 a0002c0029t0003g0128 a0002c0030t0002g0007 a0002c0031t0002g0066 a0002c0032t0002g0098 a0002c0033t0002g0020 a0002c0034t0002g0099	114	372	0.3065	1	c.15d others(3): Show c.15dupC	p.Thr others(3): Show p.Thr6fs	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	2/10	88/1847	16/1476	6/491	INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4B1_chr1_46794046_46824413	46815074	GAT GAT	G G	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02970.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0018 a0003c0019 a0003c0003 a0003c0018 a0003c0019	a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0018t0003 a0003c0019t0003	a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 others(36): Show a0003c0003t0001g0009 a0003c0003t0001g0035 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0121 a0003c0003t0001g0131 a0003c0003t0001g0134 a0003c0003t0001g0140 a0003c0003t0001g0167 a0003c0003t0001g0173 a0003c0003t0003g0007 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0135 a0003c0003t0003g0202 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0210 a0003c0003t0003g0211 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0215 a0003c0018t0003g0007 a0003c0019t0003g0216	68	398	0.1709	-2	c.884 others(9): Show c.884_885delAT	p.Asp others(5): Show p.Asp295fs	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/12	920/2174	884/1539	295/512		chr1	TogoVar
DAZ4_chrY_24828919_24912040	24861624	GTGAAGTA others(4773): Show GTGAAGTACAGACAAAGCCATAACATCTGTCAGACTATATATTGTCCTAT AATATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGAAATAGC AAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACC ACCAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTATAAGGT AAACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTC CCAAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTC ATTCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATTTTACCT ATTTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAAAATGGT TTACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCT TATCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATA CAATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATT ATTGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGCTCATTT TAAACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGTAGAATG AAGACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAGGAATAT ACTTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTC TTCTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATG AAACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGACTGAAAT AAAATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATT TTAGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCATAGATA CAAGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTGAAAGAG CTAGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGA GCTGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAGAAACAT AAAGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAG ACAGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAAT GTGTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTGATTGATT TTTTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTG TCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTG ATTTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGACTTTTTA TGTTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAA CTCCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTT AAGCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGAAAGGGA GTATTCACGTGACTTTAGAATTAGCATGTGTCTGCACAGAATATGCCTCT GGCTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGC TGTTAATGACGCCTAAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCA AATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAA AGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCA GTTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTCCTCATA TAAATTGCTGACTTCTGGATATTTCCTGGTTCTGGAATGGGTAGATTTCT GATGTGGTTTAGTATATATATGTAAACCCCGTGAGCTTCTGGCATCTAAT TTCTCTGATCCTGGTTACATTGATATTTAAAGTAGGGTTTGACATACTCT GTCACCTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCATTTTAT TGACGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAATGAAGTAACAA AATAATAGTGAAATAGTTCTGCAGTGTCTCTAATTTGTTGATATTTTCCA TGTACTTGAAACTTGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATTTACTGTGAGGCATCA CTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAACAA TAAGAATTTATTGAAACATGTAAGACATTATACTTTCTCTTCTCCAGTAT TGGATCATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACAAAGCCA TAACATCTGTCGAACTACATATTACCCTATAATATTGTCTGATACAAAAC AGTCTAGAAATATTCTTACAGAGAAATTGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAATAACGT CTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAGTAGTCA ATTTTGTCATTTGTTCCCCCTTCACACCCATAGTGTAGCACTTGACCTAG AATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTGGAATTCTGCATTGT TGTACGTAGAAAAAGGATATTTTACCTTTTGTAATATTTTTGTTATATTG GGAATTATGTTTCTTTGTAATTTTAAAAAGTGGTTTACCATATTCATTTT TTTCTGCAACCTTTCTTTTCAGCCATTTCCTGCTTATCCAAGTTCACCAT TTCAGGTCACTGCTGGATATCAGTTGCCTGTATATAATTATCAGGTAATG TAAGAAGGAGTAAAATGATTTACTTTCAGGTATTATTGAGGCATTCAACT TGTTTATACAAATTTCCTGAATAGCTGGTCATTTTAAATTAGTGAAGTGT ACCTAAAATTTAAGGAAACACGTAGAAGTAGTGTAGAATGAAGACCTCTG TCTTATTTAGAAGTAATGAAGTAGTATTTTGAGAGGAATATACTTGGCAA TAACTTTTCTGTAGAAGAGATTTCTGAGATGTGGTGTTCTCTTCTTTATT TCTGGATGCAGTTTTCATCTTTACTGTGAAATAGCTGAATGAAACATCCA AACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAATTTATG CTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGC TGTTTGAAGATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTATAT CTATGACCCATAATTACATCTATGGTAAGAAACTGAAAGAGGTAGTATCT TTGAGGTTTCCACGTTGCCAACTCCCGAAAATTTGGAGAAAGGTGAAGTT TCCAATATAAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTACTT AAGTTTTCCTTTCTGTTACTTTTATTATAATGAAAAAGGAGACAGCCGGA TAAGTACTTCAATGTTGTATTTCTCATGTGTTTTTGAAAATGTGTAGGAA TACATATAATAGTTTCGGTGTCCTTTTTTTTTCTTTCTTTTTCTTTCTTT TTTTTTTTTAAGATGCCACCATAAGGTCCTGTTGGGGAGCAAAGGATTAT GTTGTCCTTGACGTTAAGTGAATTAGCCAAACATAGATTTCCTGTTCATT CTTGATTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGATTC TTTATATTAATTTTTTTGTTGTTGTTACTTTCTTGTTAACCCGATTATAA ACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGGT TAAGCAATGGCAGGTCCATATAATGACAGACTATATAATCAAAGAAAGGT AGTGTTCATGTGACTTTACAATTAGCATGTATCTGCATAGAATCTGCCTC TGGCTTTACCAGCAATAGAATATTTATAGAAGAGAAACAGAAATGCTTTG CTGTTAATGACGCTTAAATGAGAATAGGAGTAAACGAGAGTATTACCGCC AAATCACCGGAGCTGCTTTCCCCCTTATAACCAGTTCCTAAAGTGAATGA AAGCAGCTCCCCTTATGTGTCTGCCTACTTTATTCTTTGGTAAGTTTAGC AGTTCATCTAGCTATTCTTTATTTGAAATGATTTCCGGATGCCTCCTCAT ATAAATTGCTGACTTCTGGAAATATTCTTCTTCTGGAATGGGTAGATTTC TGATGTGGTTTAGTATATATATAAACCCCGTGAGCTTCTGGCGTCTAATT TCTCTGATTCTGGTTACACTGATATTTAAAGTAGGGTTTGACATACTCCA TCACTTAATGTTGATAACTAACCTTTATATTCTTCTTAGTTCGTTTTATT TATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGAAGTAACAAA ATAATAGTGAAATAGTTCTGCGGTTGTCTCTAATTTCGTGATATTTTCCA TGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGCCTTACTTGTTTCTGTCATTTACTGTGAGCGATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAGATAA TAAAAATTTTTTGAAACATATAAGACATTATACTTTCTCTTGTCCAGTAT TGGATTATAGACTGCACTTAGTTTTTCGTAA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show HG00140.hp1 HG00609.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp1 NA18522.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19070.hp1 NA19072.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0006c0010 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0006c0010t0001 a0009c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0040 a0004c0005t0001g0003 a0004c0005t0001g0006 a0006c0010t0001g0036 a0009c0009t0001g0001	28	35	0.8000	-4780	c.121 others(17): Show c.1210-406_1354-407del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	15/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24868531	CTCTAATT others(7126): Show CTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCT CTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTT CTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCT GCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACA TTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTT GGAATGAAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCC TACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAAT TGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTT ATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAA GGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCAC ACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCAT TCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTT TGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAAT GTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCT TATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATA CAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATT ATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTT TTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATG AAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATA TCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCC CTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAAT GAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAA TAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCAT TTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGAT ACAAGTATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGA GCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAA AGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACAT AAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAG ACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAAT ATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTT AAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCC TTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATT TTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGACTCTCTATA TTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCCGAGTATAAAC TCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTTTATGTGCTTA AGCAATGGCAGCTCCACATAATGATAGACTATATAATCAAAGAAAGGTAA TATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAATCTGCCTCTG GCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAAATGCTTTGCT GTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTATTACCTGCAA ATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAAGTGAATGAAA GCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTAAGTTTAGCAA TTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTCCTCATAT AAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGGTAGATTTCTG ATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTGGCATCTAATT TCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTGACATACTCTA TCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCATTTCATT GATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGTAGTAACAAA ATAATAGTGAAATAGTTCTGCGGTTGTCTCTAATTTCGTGATATTTTCCA TGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGCCTTACTTGTTTCTGTCATTTACTGTGAGCGATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAGATAA TAAAAATTTTTTGAAACATATAAGACATTATACTTTCTCTTGTCCAGTAT TGGATTATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACAAAGCCA TAACATCTGTCAAACTATATATTGTCCTATAATATTGTCTGATACAAAAC AGTCTAGAAATATTCTGACAGGGAAATAGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAATAACTT CTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAATAGTCA ATTCTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCACTTGTCA TAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATTCTGCAT TATTGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATTCAGAAT TATATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATTTTTTTC TGGAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCATTTCA AGTCGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAATGTCAG AGGGAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAACTTGTT CATACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATTGTACCT AAAATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTTATTTAG AATAATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACTTTTCTG TAGAACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGGATGTAG TTTTCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTGTCTTTC ATGAATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCACTTTTC AGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTTGACGAT AGTAATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTGACCCAT AATTATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCC ACATTGCGAAATCCCGAAAATGTGGAGAAAGCTGAAGTTTCCAATGTAAA AGTAACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTTTTCCTT TCTGTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGTACTTTA ATATTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTTCAATAG TTTTGGTTTCCTTTTATTTATTGATTGATTTTTTAAGATTCCACCTTAGG GGCCTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGAATT AGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGTCATATA TGCCTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTTTTGTTG TTGTTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCAACAGTG CCTTTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGTCTACAT AATGATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACTTTAGAA TTAGCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAGTAGAAA ATTTATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCTAAATAA GAATAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCC CCCTTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTC TGCCTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTA TTTGAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTTCTGGAT ATATTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTATATATA TATAAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACAT TGATATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTGATAAAT ATCGTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGA CATTTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCT GCTGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGG TATACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTA CTTGTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCAT GTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAACATG TCAGACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAATTA GTTTTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAACTACAT ATTACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTTACA GCGAAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTAGTG GAACCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTACAC AGTATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCC CCTTCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATA AAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTT TCCGTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTAATT TTAAAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGCATT TCCTGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGTTGC CTGTATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTC AGGTATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTG GTCATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTG TAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTAC AGGAATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTG GTGTCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATA GCTGAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAG AGTGAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATTATA TTTTCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCT CATAGATACAAGTATATCTATGACCCATAACTATATCTATGGTAATAAAC TGAAAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATT TGGAGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGACAA GAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAA AAAGGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTT TGAAAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTT TTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTAT GTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATT CTTGATTTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGACT CTCTATATTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCCGAG TATAAACTCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTTTAT GTGCTTAAGCAATGGCAGCTCCACATAATGATAGACTATATAATCAAAGA AAGGTAATATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAATCT GCCTCTGGCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAAATG CTTTGCTGTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTATTA CCTGCAAATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAAGTG AATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTAAGT TTAGCAATTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTC CTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGGTAG ATTTCTGATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTGGCA TCTAATTTCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTGACA TACTCTATCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCA TTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGTAG TAACAAAATAATAGTGAAATAGTTCTGCAGTGTT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show HG00140.hp1 HG00609.hp1 HG01069.hp1 HG01192.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG03017.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA20805.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0004c0005 a0005c0004 others(4): Show a0001c0001 a0004c0005 a0005c0004 a0006c0010 a0007c0006 a0009c0009 a0010c0008	a0001c0001t0001 a0004c0005t0001 a0005c0004t0001 others(4): Show a0001c0001t0001 a0004c0005t0001 a0005c0004t0001 a0006c0010t0001 a0007c0006t0001 a0009c0009t0001 a0010c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0004c0005t0001g0003 a0004c0005t0001g0006 a0005c0004t0001g0008 a0005c0004t0001g0009 a0006c0010t0001g0036 a0007c0006t0001g0037 a0009c0009t0001g0001 a0010c0008t0001g0038	22	40	0.5500	-7133	c.142 others(18): Show c.1426-232_1641+2072del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	18/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DDTL_chr22_23961888_23977556	23971341	GGA GGA	G G	frameshift_variant frameshift_variant	HIGH	HG02027.hp2 HG02135.hp1 HG03688.hp1 others(6): Show HG02027.hp2 HG02135.hp1 HG03688.hp1 NA18969.hp1 NA18979.hp1 NA19005.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0040 a0002c0003t0006g0011 a0002c0003t0006g0040	9	324	0.0278	-2	c.345 others(9): Show c.345_346delGA	p.Glu others(5): Show p.Glu115fs	DDTL	ENSG00000099974.8	transcript	ENST00000215770.6	protein_coding	3/3	372/1582	345/405	115/134	INFO_REALIGN_3_PRIME	chr22	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
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(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(76): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0008c0019 a0011c0028 a0013c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0066 a0001c0002t0096 a0001c0002t0097 a0001c0002t0102 a0001c0003t0006 a0001c0003t0013 a0001c0003t0050 a0001c0003t0106 a0001c0003t0124 a0001c0004t0047 a0001c0004t0075 a0001c0006t0001 a0001c0006t0004 a0001c0006t0022 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0105 a0006c0017t0041 a0008c0019t0047 a0011c0028t0001 a0013c0030t0018	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(76): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0229 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0018g0126 a0001c0002t0018g0171 a0001c0002t0020g0124 a0001c0002t0020g0125 a0001c0002t0023g0119 a0001c0002t0066g0176 a0001c0002t0096g0060 a0001c0002t0097g0306 a0001c0002t0102g0185 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0050g0311 a0001c0003t0106g0133 a0001c0003t0124g0236 a0001c0004t0047g0112 a0001c0004t0075g0184 a0001c0006t0001g0105 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0106 a0001c0006t0022g0107 a0001c0006t0022g0108 a0001c0006t0022g0285 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0100 a0002c0005t0001g0101 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0116 a0002c0005t0001g0138 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0117 a0002c0005t0007g0045 a0002c0005t0007g0122 a0002c0005t0007g0128 a0002c0005t0007g0135 a0002c0005t0007g0137 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0105g0240 a0006c0017t0041g0121 a0008c0019t0047g0145 a0011c0028t0001g0054 a0013c0030t0018g0088	79	93	0.8495	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0017 others(2): Show a0002 a0006 a0017 a0018 a0019	a0002c0002 a0002c0005 a0002c0024 others(7): Show a0002c0002 a0002c0005 a0002c0024 a0002c0025 a0006c0008 a0006c0019 a0006c0029 a0017c0026 a0018c0021 a0019c0030	a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 a0002c0025t0001 a0006c0008t0001 a0006c0019t0001 a0006c0029t0001 a0017c0026t0001 a0018c0021t0001 a0019c0030t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0176 a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0166 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0170 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0024t0001g0148 a0002c0025t0001g0070 a0006c0008t0001g0018 a0006c0008t0001g0027 a0006c0008t0001g0099 a0006c0008t0001g0107 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0144 a0006c0019t0001g0143 a0006c0019t0001g0145 a0006c0029t0001g0003 a0017c0026t0001g0175 a0018c0021t0001g0068 a0019c0030t0001g0009	132	433	0.3049	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0015 a0016	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0040 a0003c0041 a0003c0042 a0005c0005 a0015c0039 a0016c0038	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0040t0001 a0003c0041t0001 a0003c0042t0001 a0005c0005t0002 a0015c0039t0001 a0016c0038t0002	a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 others(54): Show a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0234 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0247 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0244 a0003c0006t0001g0245 a0003c0006t0001g0246 a0003c0006t0001g0248 a0003c0006t0001g0256 a0003c0019t0001g0235 a0003c0019t0001g0263 a0003c0040t0001g0239 a0003c0041t0001g0232 a0003c0042t0001g0233 a0005c0005t0002g0257 a0015c0039t0001g0241 a0016c0038t0002g0258	66	318	0.2075	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar

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