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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASMTL_chrX_1398139_1457909	1402572	CTCCTTCC others(101): Show CTCCTTCCCCCTCCCAAAATGCAGCCTCTGTCCCCACTCCCCAAATGCAG CCTCCTTCCCCTCCTCCCCAAATGCAGCCTCTTTCTCCTCGCTCCTCCCC AATGCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(69): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19074.hp2 NA19081.hp1 NA19083.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0011 a0013 a0014 a0017	a0001c0001 a0001c0008 a0001c0010 others(18): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0031 a0001c0035 a0001c0037 a0002c0003 a0002c0004 a0002c0005 a0002c0013 a0003c0002 a0003c0006 a0003c0039 a0004c0007 a0004c0009 a0007c0016 a0011c0040 a0013c0021 a0014c0022 a0017c0023	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(18): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0031t0001 a0001c0035t0001 a0001c0037t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0013t0001 a0003c0002t0001 a0003c0006t0001 a0003c0039t0001 a0004c0007t0001 a0004c0009t0001 a0007c0016t0001 a0011c0040t0001 a0013c0021t0001 a0014c0022t0001 a0017c0023t0001	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 others(68): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0008t0001g0033 a0001c0008t0001g0045 a0001c0008t0001g0087 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0138 a0001c0008t0001g0150 a0001c0008t0001g0159 a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 a0001c0012t0001g0167 a0001c0031t0001g0125 a0001c0035t0001g0101 a0001c0037t0001g0005 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0130 a0002c0004t0001g0013 a0002c0004t0001g0041 a0002c0004t0001g0093 a0002c0004t0001g0104 a0002c0004t0001g0107 a0002c0004t0001g0148 a0002c0004t0001g0158 a0002c0005t0001g0001 a0002c0005t0001g0127 a0002c0005t0001g0143 a0002c0013t0001g0076 a0003c0002t0001g0074 a0003c0006t0001g0136 a0003c0039t0001g0011 a0004c0007t0001g0007 a0004c0009t0001g0128 a0007c0016t0001g0170 a0007c0016t0001g0171 a0011c0040t0001g0046 a0013c0021t0001g0055 a0014c0022t0001g0157 a0017c0023t0001g0114	72	183	0.3934	-108	c.58 others(9): Show c.589_*696del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		566		chrX	TogoVar
ATL2_chr2_38288954_38382273	38325627	TACACACA others(101): Show TACACACACACACACACACACACACACACACCAGTACACACACACACACA CACACACACACACACACACCAGTACACACACACACACACACACACACACA CACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02572.hp1 others(16): Show HG01109.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0004c0008 a0001c0003 a0004c0007 a0004c0008	a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 others(4): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 a0001c0003t0018 a0001c0003t0019 a0004c0007t0003 a0004c0008t0002	a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 others(16): Show a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0015 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0154 a0001c0003t0010g0010 a0001c0003t0010g0016 a0001c0003t0017g0019 a0001c0003t0018g0013 a0001c0003t0019g0014 a0004c0007t0003g0021 a0004c0008t0002g0025	19	188	0.1011	-108	c.364 others(17): Show c.364-6716_364-6609del	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758656	CCACCTGC others(101): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	239	0.0042	-108	c.654 others(19): Show c.654+22255_654+22362del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758792	CCACCTGC others(101): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTTACT CATTCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0038 a0038	a0038c0062 a0038c0062	a0038c0062t0001 a0038c0062t0001	a0038c0062t0001g0261 a0038c0062t0001g0261	1	280	0.0036	-108	c.654 others(19): Show c.654+22119_654+22226del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112862929	ATTCAGTG others(101): Show ATTCAGTGCAGGCCACGCAGCTTCCCAGCGGGATCCATCACCACGTGCAC AGTAATTGAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCT GTGCAGTAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02809.hp2 others(11): Show HG02109.hp1 HG02258.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0009 a0001c0017 others(5): Show a0001c0002 a0001c0009 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0045 a0004c0015	a0001c0002t0014 a0001c0002t0015 a0001c0002t0072 others(7): Show a0001c0002t0014 a0001c0002t0015 a0001c0002t0072 a0001c0009t0075 a0001c0017t0076 a0001c0019t0015 a0001c0020t0070 a0001c0021t0024 a0001c0045t0014 a0004c0015t0002	a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 others(11): Show a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0072g0199 a0001c0009t0075g0153 a0001c0017t0076g0154 a0001c0019t0015g0147 a0001c0020t0070g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0045t0014g0254 a0004c0015t0002g0052 a0004c0015t0002g0088	14	251	0.0558	-108	c.299 others(17): Show c.2991+363_2991+470del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863156	CCCATGCA others(101): Show CCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATTCAGT GCAGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATT CAGTGCAAA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0099 a0001c0006t0001g0099	1	252	0.0040	-108	c.299 others(17): Show c.2991+618_2991+725del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112863513	GTGCGCAA others(101): Show GTGCGCAATAATTCAGCATAGCACGTGCAGCTTCCCAGCGGGATCCATCA CCACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCTCAGCGGGGTCC ATCACCACC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG03540.hp2 HG02559.hp2 HG02895.hp1 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0038 a0001c0001 a0009c0038	a0001c0001t0023 a0009c0038t0071 a0001c0001t0023 a0009c0038t0071	a0001c0001t0023g0157 a0001c0001t0023g0158 a0009c0038t0071g0044 a0001c0001t0023g0157 a0001c0001t0023g0158 a0009c0038t0071g0044	3	229	0.0131	-108	c.299 others(18): Show c.2991+942_2991+1049del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864345	GCCATGCA others(101): Show GCCATGCAGCTTCCCAGCGGGGATCATCACCACGTGCGCCATAATTCAGC GTAGCGCGTGCAGCTTCCCAGCGGGATCCATCACCACATGGGCAGTAATT CAGTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	128	0.0078	-108	c.299 others(19): Show c.2991+1792_2991+1899del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864937	CGGCCCAT others(101): Show CGGCCCATGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTC AGTGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAATA ATTCAGCGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	245	0.0041	-108	c.299 others(19): Show c.2991+2363_2991+2470del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864976	CACAGTAA others(101): Show CACAGTAATTCAGTGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCA CGTGCGCAATAATTCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATC ACCACATGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00642.hp2 others(49): Show HG00609.hp1 HG00639.hp1 HG00642.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0026 a0002c0003 a0002c0048 a0003c0007 a0003c0008 a0005c0018 a0013c0033	a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 others(24): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0066 a0001c0001t0069 a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0002t0018 a0001c0002t0034 a0001c0004t0006 a0001c0004t0029 a0001c0004t0030 a0001c0005t0001 a0001c0006t0001 a0001c0006t0058 a0001c0011t0001 a0001c0026t0001 a0002c0003t0001 a0002c0048t0008 a0003c0007t0005 a0003c0007t0011 a0003c0008t0001 a0003c0008t0011 a0005c0018t0001 a0013c0033t0001	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0086 others(49): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0021g0094 a0001c0001t0021g0240 a0001c0001t0022g0202 a0001c0001t0025g0006 a0001c0001t0066g0220 a0001c0001t0069g0093 a0001c0002t0001g0032 a0001c0002t0006g0014 a0001c0002t0013g0112 a0001c0002t0013g0118 a0001c0002t0013g0211 a0001c0002t0018g0189 a0001c0002t0034g0179 a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0004t0006g0110 a0001c0004t0006g0124 a0001c0004t0006g0133 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0029g0246 a0001c0004t0030g0060 a0001c0005t0001g0087 a0001c0006t0001g0007 a0001c0006t0001g0077 a0001c0006t0001g0135 a0001c0006t0001g0145 a0001c0006t0001g0194 a0001c0006t0058g0162 a0001c0011t0001g0013 a0001c0026t0001g0067 a0002c0003t0001g0236 a0002c0048t0008g0165 a0003c0007t0005g0001 a0003c0007t0011g0025 a0003c0007t0011g0106 a0003c0008t0001g0010 a0003c0008t0011g0020 a0005c0018t0001g0009 a0005c0018t0001g0168 a0013c0033t0001g0166	52	252	0.2063	-108	c.299 others(19): Show c.2991+2402_2991+2509del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112865265	CCCATGCA others(101): Show CCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGT GCAGCCCGTGCAGCTTCCCAGCGGGGTCCATCACCACATGTGCAGTAATT CAGTGCAGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0050 a0001c0009t0003 a0001c0009t0050	a0001c0009t0003g0218 a0001c0009t0050g0045 a0001c0009t0003g0218 a0001c0009t0050g0045	2	249	0.0080	-108	c.299 others(19): Show c.2991+2703_2991+2810del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79203154	GGCTTAGA others(101): Show GGCTTAGAGTAACAGCAGGCAGGAGGCCCTGGAGGAGCAGGTACCTGATG CATCATGGAGGCAGTAGGACGTGGAGGAGCAGGTACCTGATGAGCGATAG AGGCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	296	0.0034	-108	c.955 others(17): Show c.955-3738_955-3631del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308891	TGAGGAGT others(101): Show TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0004 a0003c0020t0004	a0003c0020t0004g0286 a0003c0020t0004g0286	1	210	0.0048	-108	c.177 others(19): Show c.1773+1692_1773+1799del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309001	AGGAGTGA others(101): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0285 a0003c0021t0004g0285	1	295	0.0034	-108	c.177 others(19): Show c.1773+1836_1773+1943del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309287	TGAGGAGT others(101): Show TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0107 a0001c0011t0006g0107	1	225	0.0044	-108	c.177 others(19): Show c.1773+2088_1773+2195del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GALT1_chr2_167288001_167879045	167875975	ATATATAT others(101): Show ATATATATACACGTATATATATATATACGTATATATATATATACGTATAT ATATATATACGTATATATATATATATACGTATATATATATATGTATATAT ATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19030.hp2 NA19007.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0059 a0001c0001t0003g0002 a0001c0001t0003g0059	2	110	0.0182	-108	c.59 others(11): Show c.5956_*6063del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1931		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167875989	ATATATAT others(101): Show ATATATATATATACGTATATATATATATACGTATATATATATATACGTAT ATATATATATATACGTATATATATATATGTATATATATATATACGTATAT ATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0117 a0001c0001t0019g0117	1	116	0.0086	-108	c.59 others(11): Show c.5970_*6077del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1945		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82962485	ACACGGAC others(101): Show ACACGGACCCTCACACGGGTGATTTAGGGTGGAGGCTCCCGCGGGTGCTG GTGGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGTTCCTGTGGGT GCTGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(72): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0002c0009 a0002c0010 a0003c0023 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 a0001c0002t0002 a0001c0002t0008 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0014 a0001c0003t0021 a0001c0006t0002 a0001c0006t0008 a0001c0008t0021 a0001c0011t0030 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007 a0003c0023t0011 a0005c0028t0002	a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0059 others(72): Show a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0059 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0247 a0001c0001t0006g0158 a0001c0001t0022g0233 a0001c0001t0022g0243 a0001c0001t0036g0248 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0014g0193 a0001c0003t0021g0221 a0001c0006t0002g0026 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0008g0021 a0001c0008t0021g0216 a0001c0011t0030g0144 a0002c0009t0003g0079 a0002c0009t0013g0067 a0002c0009t0013g0088 a0002c0010t0007g0196 a0003c0023t0011g0020 a0005c0028t0002g0107	75	266	0.2820	-108	c.556 others(17): Show c.556-1412_556-1305del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004004	ATGTGGGA others(101): Show ATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG03579.hp1 HG00741.hp2 HG01516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0006 a0001c0014t0018 a0001c0001t0006 a0001c0014t0018	a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0014t0018g0050 a0001c0001t0006g0154 a0001c0001t0006g0160 a0001c0014t0018g0050	3	218	0.0138	-108	c.459 others(17): Show c.459+1003_459+1110del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055329	CGGTGCTG others(101): Show CGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGAC TCGGTGCTGGGTGGGTTGACAGAGGTTCCCTGCAGGTCCGCACGGACGGT GTTAGACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03225.hp2 others(3): Show HG02559.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 others(1): Show a0001c0002t0016 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017	a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0011t0001g0145 others(3): Show a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146	6	218	0.0275	-108	c.-36 others(11): Show c.-3686_-3579del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3560		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055376	GACTCGGT others(101): Show GACTCGGTGCTGGGTGGGTTGACAGAGGTTCCCTGCAGGTCCGCACGGAC GGTGTTAGACTGGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGA CGGTGTTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(3): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 HG03453.hp1 HG03486.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0001c0029 a0004c0017 a0001c0011 a0001c0029 a0004c0017	a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 others(1): Show a0001c0011t0011 a0001c0011t0012 a0001c0029t0001 a0004c0017t0002	a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 others(3): Show a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0029t0001g0142 a0004c0017t0002g0137 a0004c0017t0002g0138	6	266	0.0226	-108	c.-37 others(11): Show c.-3733_-3626del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3607		chr17	TogoVar
BBX_chr3_107517962_107816339	107584087	ATCATATA others(101): Show ATCATATATTATATATATTATATATTATATATAATATATATATTATTATA TATATTATATATAATATATGATATATATATTATTATATATATTATATATA ATATATGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp1 others(15): Show HG00140.hp2 HG00639.hp2 HG01081.hp1 HG01168.hp1 HG01346.hp1 HG01433.hp2 HG01981.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03704.hp1 HG06807.hp1 HG06807.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0033	a0001c0001t0001g0105 a0001c0001t0001g0169 a0001c0001t0002g0141 others(15): Show a0001c0001t0001g0105 a0001c0001t0001g0169 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0004g0100 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0159 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0203 a0001c0001t0016g0210 a0001c0001t0016g0211 a0001c0001t0033g0108	18	218	0.0826	-108	c.-84 others(19): Show c.-84+57690_-84+57797del	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133418007	ATTCTACT others(101): Show ATTCTACTCACCCCTGTCCTCTCCCCTCTACTCATCCCTATCCTCTCCCC TCTACTCACCCCTCTAGTCCCCCATGCCCTCTCGCCTTAACTCACCCCTG CCCTCTACC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0251 a0001c0002t0001g0169 a0001c0001t0001g0251 a0001c0002t0001g0169	2	274	0.0073	-108	c.489 others(19): Show c.489+17469_489+17576del	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1C_chr12_2047987_2702950	2105960	GGGTTTCC others(101): Show GGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCG GGGAGGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCAC CCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	104	0.0096	-108	c.50- others(15): Show c.50-9244_50-9137del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106983	CTCAGCTG others(101): Show CTCAGCTGGGGTGTCCTGAAGCCACTGGGTGCCCACCCCGGGGAGGTTTT CCACCTCAGCTGGGGTGTCCTGAAACCACTGGGTGCTCACCCCAGGGAGG GTTTCCACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0078 a0001c0005t0026g0078	1	104	0.0096	-108	c.50- others(15): Show c.50-8195_50-8088del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107057	ACCACTGG others(101): Show ACCACTGGGTGCTCACCCCAGGGAGGGTTTCCACTTCAGCTGGGGTGTCC TGAAGCCACTGGGTGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGGT GTCCTGAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0014 a0001c0001t0004 a0001c0011t0014	a0001c0001t0004g0006 a0001c0011t0014g0007 a0001c0001t0004g0006 a0001c0011t0014g0007	2	61	0.0328	-108	c.50- others(15): Show c.50-8149_50-8042del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG7_chr19_53904278_53948950	53922105	TCATTGGT others(101): Show TCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGG TCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGT	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	364	0.0027	-108	c.424 others(17): Show c.424+6601_424+6708del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922169	GAGTTGTC others(101): Show GAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGG TGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03041.hp2 HG03486.hp1 HG01993.hp2 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0309 a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0309	3	364	0.0082	-108	c.424 others(17): Show c.424+6670_424+6777del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923306	GACTCAGG others(101): Show GACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTATTGG TGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG02809.hp2 others(3): Show HG00597.hp1 HG02622.hp2 HG02809.hp2 HG03831.hp2 HG04228.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0024g0018	6	359	0.0167	-108	c.424 others(17): Show c.424+7802_424+7909del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962667	AATTATTA others(101): Show AATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTG GGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTTAT TTATTAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00639.hp1 others(20): Show HG00438.hp2 HG00558.hp2 HG00639.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01928.hp1 HG02148.hp1 HG02683.hp2 HG03831.hp2 HG04199.hp2 NA18942.hp1 NA18944.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18983.hp1 NA18992.hp1 NA18994.hp1 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 others(13): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0037 a0001c0001t0052 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0135 a0001c0001t0136 a0001c0004t0061	a0001c0001t0006g0182 a0001c0001t0009g0185 a0001c0001t0017g0038 others(18): Show a0001c0001t0006g0182 a0001c0001t0009g0185 a0001c0001t0017g0038 a0001c0001t0017g0177 a0001c0001t0017g0254 a0001c0001t0021g0181 a0001c0001t0021g0252 a0001c0001t0023g0021 a0001c0001t0023g0197 a0001c0001t0030g0180 a0001c0001t0037g0088 a0001c0001t0037g0179 a0001c0001t0052g0186 a0001c0001t0069g0174 a0001c0001t0072g0190 a0001c0001t0073g0192 a0001c0001t0074g0173 a0001c0001t0077g0021 a0001c0001t0135g0175 a0001c0001t0136g0184 a0001c0004t0061g0178	23	372	0.0618	-108	c.-47 others(9): Show c.-475_-368del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		269		chr19	TogoVar
CADM2_chr3_84953989_86079429	85769028	TAGTATAT others(101): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATGTATATATACACATATAT ACATATATA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0036 a0001c0001t0035g0036	1	125	0.0080	-108	c.89- others(17): Show c.89-33018_89-32911del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85769055	TAGTATAT others(101): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG04115.hp2 others(5): Show HG01243.hp2 HG02630.hp2 HG04115.hp2 HG04204.hp2 NA18982.hp2 NA18989.hp1 NA19003.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0039 a0001c0001t0047	a0001c0001t0001g0099 a0001c0001t0002g0019 a0001c0001t0005g0061 others(5): Show a0001c0001t0001g0099 a0001c0001t0002g0019 a0001c0001t0005g0061 a0001c0001t0005g0083 a0001c0001t0005g0123 a0001c0001t0020g0043 a0001c0001t0039g0072 a0001c0001t0047g0038	8	138	0.0580	-108	c.89- others(17): Show c.89-32991_89-32884del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85769082	TAGTATAT others(101): Show TAGTATATATACACATATATACATATATGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18950.hp2 NA18984.hp2 others(2): Show HG02293.hp2 NA18950.hp2 NA18984.hp2 NA18995.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0044 a0001c0001t0003 a0001c0001t0012 a0001c0001t0044	a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0012g0057 others(2): Show a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0012g0057 a0001c0001t0012g0086 a0001c0001t0044g0041	5	143	0.0350	-108	c.89- others(17): Show c.89-32964_89-32857del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CBFA2T2_chr20_33485096_33655030	33621187	CTGTATTC others(101): Show CTGTATTCAATTGTTACTGTATTTTGAATTTTGTCAATATTTATGGAAAT TTGTTTTCTCTCTTTTATGAGTATCTCTATAATACCTTTAATTTTACTGC CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0270 a0001c0003t0001g0270	1	296	0.0034	-108	c.510 others(17): Show c.510+1583_510+1690del	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88929754	ACCCACAG others(101): Show ACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATACCCACAGCTGCAT GGTCCACACAAAAGCTACCAATACCCACAGCTGCATCATCCACGCAAAAG CTACCCATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG02886.hp1 others(3): Show HG02109.hp2 HG02818.hp2 HG02886.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0025 a0001c0002t0035 a0001c0003t0001 others(2): Show a0001c0001t0025 a0001c0002t0035 a0001c0003t0001 a0001c0003t0004 a0001c0005t0028	a0001c0001t0025g0098 a0001c0002t0035g0283 a0001c0003t0001g0246 others(3): Show a0001c0001t0025g0098 a0001c0002t0035g0283 a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0005t0028g0196	6	282	0.0213	-108	c.152 others(19): Show c.152-28206_152-28099del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLC_chr19_44772890_44805652	44801182	CCAGCCCC others(101): Show CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCC CTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCATACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03195.hp2 HG02486.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0040 a0002c0002t0001g0042	2	318	0.0063	-108	c.64 others(9): Show c.640_*747del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		531		chr19	TogoVar
CCDC15_chr11_124949202_125046489	124960242	TAAAGAAA others(101): Show TAAAGAAAAGTGCCGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCA CTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0007 a0001c0011 others(13): Show a0001c0001 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0002c0002 a0002c0004 a0002c0018 a0003c0003 a0003c0010 a0004c0005 a0005c0008 a0006c0016 a0007c0013 a0008c0017 a0009c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0007t0006 a0001c0011t0004 a0001c0012t0002 a0001c0015t0006 a0002c0002t0001 a0002c0002t0013 a0002c0004t0001 a0002c0018t0001 a0003c0003t0005 a0003c0010t0005 a0004c0005t0008 a0005c0008t0005 a0006c0016t0012 a0007c0013t0001 a0008c0017t0001 a0009c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(233): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0184 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0003g0006 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0158 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0283 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0253 a0001c0001t0005g0228 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0174 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0010g0150 a0001c0001t0010g0151 a0001c0001t0011g0030 a0001c0001t0011g0251 a0001c0007t0006g0013 a0001c0011t0004g0252 a0001c0012t0002g0010 a0001c0015t0006g0222 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0013g0084 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0018t0001g0078 a0003c0003t0005g0007 a0003c0003t0005g0014 a0003c0003t0005g0235 a0003c0003t0005g0236 a0003c0003t0005g0237 a0003c0003t0005g0238 a0003c0003t0005g0239 a0003c0003t0005g0240 a0003c0003t0005g0242 a0003c0003t0005g0243 a0003c0003t0005g0244 a0003c0003t0005g0245 a0003c0003t0005g0250 a0003c0010t0005g0241 a0004c0005t0008g0008 a0004c0005t0008g0113 a0005c0008t0005g0246 a0005c0008t0005g0247 a0006c0016t0012g0030 a0007c0013t0001g0083 a0008c0017t0001g0040 a0009c0009t0003g0204	285	348	0.8190	-108	c.516 others(15): Show c.516+253_516+360del	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDC16_chr13_114229897_114277723	114251967	CTACACTA others(101): Show CTACACTAGCCCTGTTGGATAAGAGCCCTACACTAACCCTGTTGGATAAG AGCCTTACACTAGCCCTGTTGGATAAGAGCCCTACACTAACCCTATTGGA TAAGAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	371	0.0027	-108	c.109 others(19): Show c.1097+1328_1097+1435del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDH13_chr16_82621969_83805640	83658218	CAGGTCCC others(101): Show CAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCC CGTATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCGTATCC TCACCAGCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG00323.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0005 a0001c0001t0045 a0001c0002t0005	a0001c0001t0045g0035 a0001c0002t0005g0075 a0001c0001t0045g0035 a0001c0002t0005g0075	2	110	0.0182	-108	c.110 others(21): Show c.1102-12469_1102-12362del	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH2_chr18_27945966_28182130	27948191	TATTGAAG others(101): Show TATTGAAGTTTTTAACAAGTGGTGTTTGGAAAACAGATATAAGTGATATA AGTGTATGTGATATAAGTGTGTATATGGCAAAGAATGCATTCCACATGGT TGGGTTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01169.hp2 HG01192.hp2 others(3): Show HG00140.hp1 HG01169.hp2 HG01192.hp2 HG03239.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0004g0035 a0001c0001t0024g0063 a0001c0002t0001g0105	6	266	0.0226	-108	c.38 others(11): Show c.3854_*3961del	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding		2774		chr18	TogoVar
CDH4_chr20_61247261_61945617	61689846	GTGGTTGG others(101): Show GTGGTTGGTGAGGTGATGTGGTATAAGGCTGGGACAGTGGTTGGTGAGGT GATGTGGAATTGAGCTGGGACGGTGGTTGGTGAGGTGATGTGGAATCAGG CTGGGACAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG03516.hp2 HG02630.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 a0001c0001 a0001c0003 a0001c0020	a0001c0001t0017 a0001c0003t0001 a0001c0020t0006 a0001c0001t0017 a0001c0003t0001 a0001c0020t0006	a0001c0001t0017g0030 a0001c0003t0001g0037 a0001c0020t0006g0093 a0001c0001t0017g0030 a0001c0003t0001g0037 a0001c0020t0006g0093	3	106	0.0283	-108	c.170 others(19): Show c.170-53696_170-53589del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELSR2_chr1_109244539_109280751	109248516	GGCCCAGG others(101): Show GGCCCAGGCATCCCCCCAGGCCAGGGCATCCCCCCAGGGACTACCTGACT GGGCCCCTGGCTGCTCCAGGATGTAGGGAAGCCTTTTCTGGGTCGCCTGC ACGGCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG03540.hp1 others(2): Show HG03139.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0033 a0001c0003 a0001c0033	a0001c0003t0002 a0001c0033t0002 a0001c0003t0002 a0001c0033t0002	a0001c0003t0002g0017 a0001c0003t0002g0063 a0001c0033t0002g0052 a0001c0003t0002g0017 a0001c0003t0002g0063 a0001c0033t0002g0052	5	354	0.0141	-108	c.-15 others(11): Show c.-1563_-1456del	CELSR2	ENSG00000143126.8	transcript	ENST00000271332.4	protein_coding		1022		chr1	TogoVar
CERCAM_chr9_128415857_128442347	128437834	TACACATA others(101): Show TACACATACACGTATATACACGTATATACACATACACGTATATACACGTA TATACACATACACGTATATACACGTATATACACATACACGTATATACACG TATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02717.hp1 HG01891.hp2 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	3	398	0.0075	-108	c.98 others(10): Show c.987_*1094del	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		488		chr9	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(101): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATAT ATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01081.hp2 others(12): Show HG00423.hp2 HG00558.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG02735.hp1 HG03704.hp1 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA19058.hp1 NA19064.hp2 NA19090.hp1	a0008 a0011 a0014 others(4): Show a0008 a0011 a0014 a0017 a0033 a0042 a0052	a0008c0008 a0011c0013 a0014c0046 others(4): Show a0008c0008 a0011c0013 a0014c0046 a0017c0045 a0033c0057 a0042c0076 a0052c0098	a0008c0008t0001 a0011c0013t0001 a0014c0046t0001 others(4): Show a0008c0008t0001 a0011c0013t0001 a0014c0046t0001 a0017c0045t0001 a0033c0057t0001 a0042c0076t0001 a0052c0098t0001	a0008c0008t0001g0197 a0008c0008t0001g0198 a0008c0008t0001g0199 others(12): Show a0008c0008t0001g0197 a0008c0008t0001g0198 a0008c0008t0001g0199 a0008c0008t0001g0200 a0008c0008t0001g0201 a0008c0008t0001g0202 a0008c0008t0001g0207 a0011c0013t0001g0187 a0011c0013t0001g0188 a0011c0013t0001g0189 a0014c0046t0001g0062 a0017c0045t0001g0061 a0033c0057t0001g0106 a0042c0076t0001g0179 a0052c0098t0001g0208	15	169	0.0888	-108	c.556 others(17): Show c.5563+765_5563+872del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(101): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 NA18990.hp2 HG02486.hp1 HG02559.hp1 NA18990.hp2	a0001 a0009 a0040 a0001 a0009 a0040	a0001c0001 a0009c0028 a0040c0079 a0001c0001 a0009c0028 a0040c0079	a0001c0001t0001 a0009c0028t0001 a0040c0079t0001 a0001c0001t0001 a0009c0028t0001 a0040c0079t0001	a0001c0001t0001g0091 a0009c0028t0001g0180 a0040c0079t0001g0184 a0001c0001t0001g0091 a0009c0028t0001g0180 a0040c0079t0001g0184	3	138	0.0217	-108	c.909 others(19): Show c.9097-1840_9097-1733del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827174	ATGTGCAG others(101): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp1 others(34): Show HG00323.hp2 HG00621.hp2 HG00673.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01515.hp2 HG01978.hp1 HG02056.hp1 HG02145.hp2 HG02293.hp2 HG02602.hp1 HG02809.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp2 NA18949.hp2 NA18964.hp2 NA18973.hp1 NA18989.hp1 NA18998.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0009 a0018 a0019 a0026 a0031 a0038 a0045 a0060	a0001c0001 a0001c0012 a0001c0078 others(15): Show a0001c0001 a0001c0012 a0001c0078 a0001c0086 a0002c0003 a0003c0002 a0004c0005 a0006c0006 a0006c0010 a0009c0019 a0009c0075 a0018c0067 a0019c0027 a0026c0029 a0031c0053 a0038c0062 a0045c0052 a0060c0061	a0001c0001t0001 a0001c0012t0001 a0001c0078t0001 others(15): Show a0001c0001t0001 a0001c0012t0001 a0001c0078t0001 a0001c0086t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0001 a0006c0006t0001 a0006c0010t0001 a0009c0019t0001 a0009c0075t0001 a0018c0067t0001 a0019c0027t0001 a0026c0029t0001 a0031c0053t0001 a0038c0062t0001 a0045c0052t0001 a0060c0061t0001	a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0054 others(34): Show a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0012t0001g0014 a0001c0012t0001g0072 a0001c0012t0001g0082 a0001c0078t0001g0059 a0001c0086t0001g0146 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0151 a0003c0002t0001g0267 a0003c0002t0001g0268 a0004c0005t0001g0097 a0006c0006t0001g0023 a0006c0006t0001g0031 a0006c0006t0001g0032 a0006c0006t0001g0057 a0006c0006t0001g0096 a0006c0010t0001g0128 a0009c0019t0001g0190 a0009c0019t0001g0263 a0009c0075t0001g0015 a0018c0067t0001g0242 a0019c0027t0001g0017 a0019c0027t0001g0073 a0026c0029t0001g0001 a0026c0029t0001g0176 a0031c0053t0001g0024 a0038c0062t0001g0028 a0045c0052t0001g0068 a0060c0061t0001g0039	37	234	0.1581	-108	c.909 others(19): Show c.9097-1813_9097-1706del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827201	ATGTGCAG others(101): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG03516.hp1 HG02922.hp1 HG03195.hp1 HG03516.hp1	a0016 a0046 a0016 a0046	a0016c0014 a0046c0034 a0016c0014 a0046c0034	a0016c0014t0001 a0046c0034t0001 a0016c0014t0001 a0046c0034t0001	a0016c0014t0001g0163 a0016c0014t0001g0166 a0046c0034t0001g0006 a0016c0014t0001g0163 a0016c0014t0001g0166 a0046c0034t0001g0006	3	261	0.0115	-108	c.909 others(19): Show c.9097-1786_9097-1679del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827228	ATGTGCAG others(101): Show ATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATA TATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18968.hp1 NA18973.hp2 HG02965.hp2 NA18968.hp1 NA18973.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0052 a0005c0004t0001g0107 a0005c0004t0001g0113 a0001c0001t0001g0052 a0005c0004t0001g0107 a0005c0004t0001g0113	3	197	0.0152	-108	c.909 others(19): Show c.9097-1509_9097-1402del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHCHD6_chr3_126699240_126965420	126863302	TCCTCCTC others(101): Show TCCTCCTCCTCCATCACCACCTCCTCCTCCTCCTCCATCACCTCCTCCTC CTCTACCATCACCACCTCCTCCTCCTCCTCTACCATCACCACCTCCTCCT CCTCCTCTA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03225.hp2 HG02897.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0067 a0002c0002t0001g0069	2	214	0.0093	-108	c.495 others(19): Show c.495+10575_495+10682del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHID1_chr11_862859_915810	881457	CTGGGTGG others(101): Show CTGGGTGGTGAGGGAAAGGACGTCGGGCGGTAGGCTGGGTGGTGAGGGAA AGGACCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGG GCGGTAGGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA19088.hp1 HG03490.hp2 HG03492.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0004 a0001c0001t0001g0028	3	354	0.0085	-108	c.959 others(17): Show c.959+1583_959+1690del	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar

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