Joint Open Genome and Omics Platform (JoGo)

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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
ACAD8_chr11_134248568_134270855	134253603	G G	T T	start_lost start_lost	HIGH	NA18964.hp2 NA18964.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0009 a0005c0007t0001g0009	1	448	0.0022	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	1/11	36/2176	3/1248	1/415		chr11	TogoVar
ACCSL_chr11_44042981_44064977	44048039	G G	A A	start_lost start_lost	HIGH	HG02622.hp1 HG03130.hp1 HG03225.hp2 others(1): Show HG02622.hp1 HG03130.hp1 HG03225.hp2 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0002 a0004c0006t0001g0030 a0004c0006t0001g0078 others(1): Show a0004c0006t0001g0002 a0004c0006t0001g0030 a0004c0006t0001g0078 a0004c0006t0001g0149	4	444	0.0090	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/14	59/1820	3/1707	1/568		chr11	TogoVar
ACOT8_chr20_45836721_45862392	45857313	C C	CATCT CATCT	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show HG00423.hp1 HG00597.hp2 HG02165.hp2 HG03834.hp1 HG03927.hp2 NA18952.hp2 NA18961.hp1 NA18973.hp1 NA18978.hp1 NA19002.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 others(3): Show a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050	11	420	0.0262	4	c.-2_ others(8): Show c.-2_2dupAGAT	p.Met others(3): Show p.Met1fs	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	1/6	79/1154	2/960	1/319		chr20	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
ACTL7B_chr9_108849588_108860986	108855929	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG01069.hp2 others(17): Show HG00280.hp2 HG00323.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02717.hp1 HG03017.hp1 HG03239.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp1 NA20752.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0001 a0002c0009t0001 a0002c0005t0001 a0002c0009t0001	a0002c0005t0001g0000 a0002c0009t0001g0000 a0002c0005t0001g0000 a0002c0009t0001g0000	20	468	0.0427	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	58/1399	2/1248	1/415		chr9	TogoVar
ADGRE2_chr19_14727392_14783560	14776755	A A	G G	start_lost start_lost	HIGH	HG02056.hp2 HG02056.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0006 a0017c0021t0006	a0017c0021t0006g0010 a0017c0021t0006g0010	1	216	0.0046	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/21	477/6791	2/2472	1/823		chr19	TogoVar
ALDOC_chr17_28568120_28581895	28575531	A A	C C	start_lost start_lost	HIGH	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	109/1608	2/1095	1/364		chr17	TogoVar
ANGEL1_chr14_76781009_76817882	76812827	T T	C C	start_lost start_lost	HIGH	HG03688.hp2 HG03688.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0287 a0010c0018t0001g0287	1	394	0.0025	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	1/10	56/5287	1/2013	1/670		chr14	TogoVar
ANKRD36_chr2_97108153_97269521	97113741	T T	A A	start_lost start_lost	HIGH	HG00597.hp2 HG02071.hp1 HG02083.hp2 others(13): Show HG00597.hp2 HG02071.hp1 HG02083.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 NA18941.hp2 NA18951.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18999.hp2 NA19070.hp1 NA19085.hp1 NA19088.hp1	a0004 a0004	a0004c0004 a0004c0009 a0004c0017 a0004c0004 a0004c0009 a0004c0017	a0004c0004t0002 a0004c0009t0002 a0004c0017t0002 a0004c0004t0002 a0004c0009t0002 a0004c0017t0002	a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 others(12): Show a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0190 a0004c0004t0002g0191 a0004c0004t0002g0203 a0004c0009t0002g0181 a0004c0009t0002g0182 a0004c0009t0002g0183 a0004c0009t0002g0184 a0004c0009t0002g0185 a0004c0017t0002g0188 a0004c0017t0002g0192	16	210	0.0762	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	1/76	589/6534	2/5748	1/1915		chr2	TogoVar
ANXA9_chr1_150977292_151000634	150983106	A A	G G	start_lost start_lost	HIGH	HG01069.hp2 HG01071.hp2 HG03704.hp2 HG01069.hp2 HG01071.hp2 HG03704.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0002 a0005c0007t0001g0012 a0005c0007t0001g0002 a0005c0007t0001g0012	3	396	0.0076	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	ANXA9	ENSG00000143412.10	transcript	ENST00000368947.9	protein_coding	3/14	202/1551	1/1038	1/345		chr1	TogoVar
APOBEC3G_chr22_39072275_39092743	39077363	T T	C C	start_lost start_lost	HIGH	NA18963.hp1 NA18963.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0001 a0010c0007t0001g0001	1	422	0.0024	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding	1/8	89/1564	2/1155	1/384		chr22	TogoVar
ARL1_chr12_101388116_101412772	101407643	C C	A A	start_lost others(1): Show start_lost splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0134 a0002c0002t0017g0134	1	396	0.0025	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	ARL1	ENSG00000120805.14	transcript	ENST00000261636.13	protein_coding	1/6	130/3197	3/546	1/181		chr12	TogoVar
ARL1_chr12_101388116_101412772	101407644	A A	C C	start_lost others(1): Show start_lost splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0134 a0002c0002t0017g0134	1	396	0.0025	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	ARL1	ENSG00000120805.14	transcript	ENST00000261636.13	protein_coding	1/6	129/3197	2/546	1/181		chr12	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
ATAD3C_chr1_1444689_1475163	1450685	T T	C C	start_lost start_lost	HIGH	HG01975.hp2 HG01975.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0056 a0017c0025t0056	a0017c0025t0056g0310 a0017c0025t0056g0310	1	408	0.0025	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	1/12	997/3864	2/1236	1/411		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1450686	G G	A A	start_lost start_lost	HIGH	HG01975.hp2 HG01975.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0056 a0017c0025t0056	a0017c0025t0056g0310 a0017c0025t0056g0310	1	408	0.0025	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	1/12	998/3864	3/1236	1/411		chr1	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0020t0001 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0004 a0002c0030t0001 a0002c0031t0001 a0002c0032t0001	a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0356 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0039 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0256 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0001g0366 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0255 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0257 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0011t0007g0251 a0002c0011t0007g0252 a0002c0011t0007g0253 a0002c0011t0007g0254 a0002c0012t0005g0034 a0002c0012t0005g0250 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0020t0001g0032 a0002c0021t0001g0309 a0002c0021t0001g0362 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0029t0004g0355 a0002c0030t0001g0335 a0002c0031t0001g0364 a0002c0032t0001g0337	151	438	0.3447	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
ATXN2L_chr16_28817999_28842232	28823252	CTGCCATC others(5): Show CTGCCATCATGTT	C C	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	NA18956.hp2 NA18956.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0009 a0011c0028t0009	a0011c0028t0009g0062 a0011c0028t0009g0062	1	380	0.0026	-12	c.-7_ others(16): Show c.-7_5delTGCCATCATGTT	p.Met others(9): Show p.Met1_Leu2del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	255/4456	1/3228	1/1075		chr16	TogoVar
BHLHA15_chr7_98206439_98220457	98212311	T T	G G	start_lost start_lost	HIGH	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0001 a0002c0002t0050g0001	1	454	0.0022	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding	2/2	116/3262	2/570	1/189		chr7	TogoVar
BHLHA15_chr7_98206439_98220457	98212312	G G	C C	start_lost start_lost	HIGH	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0001 a0002c0002t0050g0001	1	454	0.0022	0	c.3G> others(1): Show c.3G>C	p.Met others(2): Show p.Met1?	BHLHA15	ENSG00000180535.4	transcript	ENST00000609256.2	protein_coding	2/2	117/3262	3/570	1/189		chr7	TogoVar
BPIFA2_chr20_33163159_33186412	33169148	G G	A A	start_lost start_lost	HIGH	HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 a0003c0006 a0003c0007 a0003c0009	a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0009t0003	a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 others(5): Show a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 a0003c0007t0001g0077 a0003c0007t0001g0078 a0003c0007t0001g0080 a0003c0009t0003g0076 a0003c0009t0003g0079	9	376	0.0239	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	2/9	69/1042	3/750	1/249		chr20	TogoVar
BRAF_chr7_140714337_140929929	140924702	A A	T T	start_lost start_lost	HIGH	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0001 a0002c0005t0003g0001	1	188	0.0053	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/20	228/9807	2/2424	1/807		chr7	TogoVar
BRAF_chr7_140725665_140929929	140924702	A A	T T	start_lost start_lost	HIGH	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	194	0.0052	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/18	228/6459	2/2301	1/766		chr7	TogoVar
BSPH1_chr19_47963046_47997170	47992080	A A	T T	start_lost start_lost	HIGH	HG01167.hp1 HG01169.hp2 HG02280.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG02280.hp1 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 others(1): Show a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030	4	442	0.0090	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/6	91/654	2/399	1/132		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47992081	T T	C C	start_lost start_lost	HIGH	HG02723.hp1 HG03130.hp1 HG03516.hp1 HG02723.hp1 HG03130.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0412 a0003c0005t0001g0413 a0003c0005t0001g0414 a0003c0005t0001g0412 a0003c0005t0001g0413 a0003c0005t0001g0414	3	442	0.0068	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/6	90/654	1/399	1/132		chr19	TogoVar
C11orf71_chr11_114393532_114405511	114400331	T T	C C	start_lost start_lost	HIGH	HG03490.hp1 HG04115.hp2 HG03490.hp1 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	420	0.0048	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding	1/1	181/1980	1/372	1/123		chr11	TogoVar
C12orf42_chr12_103296955_103500968	103478395	TCCCTTTG others(71): Show TCCCTTTGTTTCATACATATCACTGTAGACATTAATTTGACAAGTTCAAC TCCCTATAAACAAAGAATGGAGAAAGAAG	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG03490.hp1 HG03490.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0008 a0011c0008t0008	a0011c0008t0008g0100 a0011c0008t0008g0100	1	260	0.0038	-78	c.-21 others(87): Show c.-21-26_31delCTTCTTTCTCCATTCTTTGTTTATAGGGAGTTGAAC TTGTCAAATTAATGTCTACAGTGATATGTATGAAACAAAGGG	p.Met others(3): Show p.Met1fs	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/6	119/1324	1/1083	1/360		chr12	TogoVar
C1QTNF5_chr11_119333942_119345883	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18967.hp2 NA18967.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0013 a0004c0004t0007g0013	1	386	0.0026	-131	c.-9_ others(6): Show c.-9_122del	p.Met others(3): Show p.Met1fs	C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding	2/3	354/1353	1/732	1/243		chr11	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0011g0040 a0001c0001t0011g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	378	0.2037	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162	INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf226_chr6_42885265_42895821	42890786	C C	T T	start_lost start_lost	HIGH	HG01192.hp2 HG01255.hp2 HG01358.hp2 others(3): Show HG01192.hp2 HG01255.hp2 HG01358.hp2 HG02280.hp2 HG02922.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	6	394	0.0152	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	C6orf226	ENSG00000221821.4	transcript	ENST00000408925.4	protein_coding	1/1	36/557	3/306	1/101		chr6	TogoVar
C7orf33_chr7_148585766_148620860	148590928	G G	T T	start_lost start_lost	HIGH	HG01070.hp2 HG01081.hp2 HG01928.hp1 others(6): Show HG01070.hp2 HG01081.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp2 HG02257.hp2 HG04204.hp2 NA19240.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0009 a0003c0003 a0003c0008 a0003c0009	a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 a0003c0009t0001	a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0002g0015 others(5): Show a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0002g0015 a0003c0003t0002g0097 a0003c0003t0002g0100 a0003c0003t0002g0103 a0003c0008t0002g0098 a0003c0009t0001g0099	9	442	0.0204	0	c.3G> others(1): Show c.3G>T	p.Met others(2): Show p.Met1?	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/3	163/1153	3/534	1/177		chr7	TogoVar
C7orf50_chr7_992006_1143247	1127383	C C	T T	start_lost start_lost	HIGH	HG03927.hp1 HG03927.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0011 a0006c0003t0011	a0006c0003t0011g0270 a0006c0003t0011g0270	1	324	0.0031	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/5	937/2138	3/585	1/194		chr7	TogoVar
C9orf57_chr9_72046376_72065613	72059329	C C	T T	start_lost start_lost	HIGH	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0213 a0003c0005t0002g0213	1	448	0.0022	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	2/5	173/1510	3/420	1/139		chr9	TogoVar
CALHM2_chr10_103441786_103457370	103449939	C C	T T	start_lost start_lost	HIGH	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0070	1	456	0.0022	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	3/4	579/1914	3/972	1/323		chr10	TogoVar
CAMK1G_chr1_209578714_209618939	209594984	A A	G G	start_lost start_lost	HIGH	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0142 a0003c0011t0001g0142	1	444	0.0023	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CAMK1G	ENSG00000008118.10	transcript	ENST00000361322.3	protein_coding	2/13	89/2456	1/1431	1/476		chr1	TogoVar
CAMP_chr3_48218495_48230485	48223513	T T	C C	start_lost start_lost	HIGH	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0001 a0006c0004t0001g0001	1	344	0.0029	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	CAMP	ENSG00000164047.6	transcript	ENST00000652295.2	protein_coding	1/4	19/591	2/513	1/170		chr3	TogoVar
CAPG_chr2_85389753_85415366	85402143	C C	T T	start_lost start_lost	HIGH	NA20752.hp2 NA20752.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0185 a0007c0007t0001g0185	1	408	0.0025	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	2/10	66/1250	3/1047	1/348		chr2	TogoVar
CASQ1_chr1_160185575_160206886	160190753	T T	A A	start_lost start_lost	HIGH	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0007 a0004c0006t0001g0007	1	438	0.0023	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	1/11	179/1878	2/1191	1/396		chr1	TogoVar
CC2D2B_chr10_95902975_96038745	95911324	A A	G G	start_lost start_lost	HIGH	NA19057.hp1 NA19057.hp1	a0031 a0031	a0031c0040 a0031c0040	a0031c0040t0001 a0031c0040t0001	a0031c0040t0001g0237 a0031c0040t0001g0237	1	310	0.0032	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	2/35	107/6157	1/4314	1/1437		chr10	TogoVar
CCL7_chr17_34265221_34277242	34270291	A A	G G	start_lost start_lost	HIGH	NA18975.hp2 NA18975.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	426	0.0023	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CCL7	ENSG00000108688.11	transcript	ENST00000378569.2	protein_coding	1/3	71/810	1/300	1/99		chr17	TogoVar
CD1E_chr1_158348894_158362553	158353989	A A	G G	start_lost start_lost	HIGH	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0003 a0008c0015t0001g0003	1	434	0.0023	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CD1E	ENSG00000158488.16	transcript	ENST00000368167.8	protein_coding	1/6	96/1919	1/1167	1/388		chr1	TogoVar
CDC14C_chr7_48919547_48932454	48924674	T T	C C	start_lost start_lost	HIGH	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0030 a0009c0009t0030	a0009c0009t0030g0000 a0009c0009t0030g0000	1	460	0.0022	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	CDC14C	ENSG00000218305.5	transcript	ENST00000650262.2	protein_coding	1/1	128/2908	2/1344	1/447		chr7	TogoVar
CEL_chr9_133056981_133076861	133062003	A A	G G	start_lost start_lost	HIGH	HG02080.hp2 HG02080.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0001 a0009c0028t0001	a0009c0028t0001g0003 a0009c0028t0001g0003	1	414	0.0024	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	1/11	23/2381	1/2262	1/753		chr9	TogoVar
CENPU_chr4_184689085_184739096	184734060	C C	T T	start_lost start_lost	HIGH	HG03139.hp1 HG03579.hp2 HG03139.hp1 HG03579.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0012 a0007c0009t0001g0012	2	356	0.0056	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	1/13	37/2494	3/1257	1/418		chr4	TogoVar
CHIT1_chr1_203211079_203234673	203229634	C C	T T	start_lost start_lost	HIGH	HG00738.hp2 HG00738.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0058 a0018c0016t0001g0058	1	482	0.0021	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	1/11	40/2248	3/1401	1/466		chr1	TogoVar
CLDN20_chr6_155259013_155281548	155275721	T T	A A	start_lost start_lost	HIGH	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0002 a0004c0006t0002g0002	1	382	0.0026	0	c.2T> others(1): Show c.2T>A	p.Met others(2): Show p.Met1?	CLDN20	ENSG00000171217.5	transcript	ENST00000367165.3	protein_coding	2/2	382/1209	2/660	1/219		chr6	TogoVar
CLEC4M_chr19_7758243_7774605	7763269	G G	A A	start_lost start_lost	HIGH	NA19067.hp1 NA19067.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0063 a0011c0011t0001g0063	1	458	0.0022	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	1/7	27/1841	3/1200	1/399		chr19	TogoVar
CNBD1_chr8_86861415_87387859	86866497	T T	C C	start_lost start_lost	HIGH	HG02486.hp2 HG02647.hp1 HG03579.hp1 others(1): Show HG02486.hp2 HG02647.hp1 HG03579.hp1 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0009 others(1): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0002g0007	4	152	0.0263	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/11	83/1624	2/1311	1/436		chr8	TogoVar
CNFN_chr19_42382019_42395297	42389037	T T	C C	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0037 a0002c0007t0001g0037	1	274	0.0036	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	2/4	61/533	1/339	1/112		chr19	TogoVar

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