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
FAM221A_chr7_23675199_23707650	23690199	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18959.hp2 HG00423.hp1 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0087 a0002c0002t0003g0074 a0002c0002t0003g0087	2	410	0.0049	13	c.430 others(28): Show c.430+741_430+742insATATATTTTTTTT	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM221A_chr7_23675199_23707650	23690199	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	410	0.0024	13	c.430 others(28): Show c.430+741_430+742insATATTTTTTTTTT	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM221A_chr7_23675199_23707650	23690200	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG01515.hp1 others(7): Show HG00323.hp1 HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02129.hp2 HG02922.hp1 HG02976.hp1 NA18977.hp1 NA19010.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0256 a0001c0001t0001g0307	10	410	0.0244	13	c.430 others(28): Show c.430+741_430+742insATATATATATATA	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6			chr7	TogoVar
FAM222A_chr12_109708825_109775495	109764222	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG04115.hp1 HG02486.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0113 a0001c0001t0001g0116	2	366	0.0055	13	c.83- others(28): Show c.83-3787_83-3775dupAAAAAAAAAAAAA	FAM222A	ENSG00000139438.6	transcript	ENST00000538780.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(6): Show CATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 NA19086.hp2 HG03130.hp1 HG03540.hp1 NA19086.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0005 a0001c0001 a0009c0005	a0001c0001t0004 a0001c0001t0013 a0009c0005t0005 a0001c0001t0004 a0001c0001t0013 a0009c0005t0005	a0001c0001t0004g0253 a0001c0001t0013g0261 a0009c0005t0005g0052 a0001c0001t0004g0253 a0001c0001t0013g0261 a0009c0005t0005g0052	3	276	0.0109	13	c.-40 others(32): Show c.-40-24178_-40-24177insAAAAAAAAAAAAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38613116	T T	TATAATTA others(6): Show TATAATTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp1 NA20129.hp2 HG01891.hp2 HG03453.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0198 a0002c0002t0011g0206 a0002c0002t0011g0208 a0002c0002t0011g0198 a0002c0002t0011g0206 a0002c0002t0011g0208	3	328	0.0092	13	c.103 others(32): Show c.1039-5641_1039-5640insTATATATAATTAT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0271 a0001c0001t0058g0271	1	328	0.0031	13	c.727 others(28): Show c.727-589_727-588insATATTTTTTTTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03654.hp2 NA19012.hp2 HG00733.hp2 HG03654.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0003g0269 a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0003g0269	3	328	0.0092	13	c.727 others(28): Show c.727-589_727-588insATATATTTTTTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02698.hp2 HG03225.hp2 others(4): Show HG02165.hp2 HG02698.hp2 HG03225.hp2 HG03471.hp1 NA18975.hp2 NA18982.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0001c0001t0056	a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0254 others(4): Show a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0003g0261 a0001c0001t0016g0295 a0001c0001t0021g0258 a0001c0001t0056g0304	7	328	0.0213	13	c.727 others(28): Show c.727-589_727-588insATATATATTTTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 NA18612.hp2 others(4): Show HG02280.hp2 HG02559.hp1 NA18612.hp2 NA18986.hp2 NA18992.hp2 NA19002.hp2 NA19058.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0005c0006t0002	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0299 others(4): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0299 a0001c0001t0003g0234 a0001c0001t0003g0292 a0001c0001t0016g0294 a0005c0006t0002g0283	7	328	0.0213	13	c.727 others(28): Show c.727-589_727-588insATATATATATTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0302 a0001c0001t0027g0302	1	328	0.0031	13	c.727 others(28): Show c.727-589_727-588insATATATATATATT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227B_chr15_49321970_49625818	49324400	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01257.hp2 others(3): Show HG01070.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0001 a0001c0002t0021 a0006c0007t0003 a0001c0001t0001 a0001c0002t0021 a0006c0007t0003	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0254 a0001c0002t0021g0281 a0006c0007t0003g0236	6	294	0.0204	13	c.41 others(24): Show c.4155_*4167dupTTTTTTTTTTTTT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding		2569		chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489866	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	294	0.0034	13	c.101 others(34): Show c.1012+18344_1012+18345insAAATATATATATA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM228B_chr2_24118469_24174638	24155531	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	290	0.0035	13	c.687 others(30): Show c.687-5974_687-5973insATATATATATATT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24155531	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18964.hp1 NA18967.hp1 others(2): Show HG02056.hp1 NA18964.hp1 NA18967.hp1 NA19002.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0073	5	290	0.0172	13	c.687 others(30): Show c.687-5974_687-5973insATATATATATTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24155531	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18945.hp1 NA18969.hp1 others(1): Show HG01361.hp1 NA18945.hp1 NA18969.hp1 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0048 others(1): Show a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0006t0001g0272	4	290	0.0138	13	c.687 others(30): Show c.687-5974_687-5973insATATATATTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24155531	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0269 a0001c0006t0001g0269	1	290	0.0035	13	c.687 others(30): Show c.687-5974_687-5973insATATATTTTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24158196	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(41): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01358.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03540.hp2 HG03942.hp1 NA18906.hp2 NA18968.hp2 NA18993.hp2 NA19001.hp1 NA19001.hp2 NA19011.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19072.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0002c0009 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0010t0001 a0002c0009t0001 a0003c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0136 others(41): Show a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0258 a0001c0003t0001g0010 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0092 a0001c0003t0001g0102 a0001c0003t0001g0131 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0162 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0256 a0001c0008t0001g0160 a0001c0008t0001g0161 a0001c0008t0001g0238 a0001c0010t0001g0140 a0002c0009t0001g0011 a0002c0009t0001g0037 a0003c0004t0001g0093 a0003c0004t0001g0095 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0116 a0003c0004t0001g0124	44	290	0.1517	13	c.687 others(30): Show c.687-3305_687-3293dupTTTTTTTTTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01081.hp1 others(15): Show HG00639.hp1 HG00639.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG02622.hp1 HG02698.hp2 HG03579.hp1 HG04204.hp1 NA18952.hp2 NA19054.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0001 a0001c0001t0001 a0004c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0146 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0227 a0004c0012t0001g0203	18	290	0.0621	13	c.933 others(30): Show c.933-1572_933-1571insATATATATATATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM237A_chr2_206637487_206654365	206651371	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	464	0.0022	13	c.25 others(24): Show c.2577_*2578insGTGTGTGTGTGTG	FAM237A	ENSG00000235118.9	transcript	ENST00000441223.4	protein_coding		2007		chr2	TogoVar
FAM240C_chr2_241888988_241905464	241893021	T T	TCTTTCTG others(6): Show TCTTTCTGCACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	37	0.0270	13	c.11 others(24): Show c.1191_*1192insCACGTGCAGAAAG	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding		966		chr2	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(6): Show GGGGTGTGGGTGAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	37	0.0270	13	c.161 others(28): Show c.161+471_161+472insTTCACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19089.hp2 NA19085.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	388	0.0052	13	c.10 others(26): Show c.10395_*10396insAAAAAAAAAAAAA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM25C_chr10_47990322_48004791	47997119	A A	ATTTTTTT others(6): Show ATTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03491.hp1 HG02698.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	436	0.0046	13	c.136 others(28): Show c.136+557_136+558insAAGAAAAAAAAAA	FAM25C	ENSG00000276430.3	transcript	ENST00000617224.3	protein_coding	2/2			chr10	TogoVar
FAM32A_chr19_16180410_16197046	16189668	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18946.hp1 NA19054.hp2 HG02738.hp2 NA18946.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0037 a0001c0001t0001g0069	3	412	0.0073	13	c.217 others(28): Show c.217-838_217-826dupTTTTTTTTTTTTT	FAM32A	ENSG00000105058.12	transcript	ENST00000263384.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	13	c.-23 others(24): Show c.-2325_-2324insAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM43B_chr1_20547573_20560020	20551325	C C	CCCAAATC others(6): Show CCCAAATCTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	13	c.-16 others(24): Show c.-1649_-1648insCCAAATCTTCCCA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1247		chr1	TogoVar
FAM47B_chrX_34937796_34949915	34940875	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	13	c.-19 others(24): Show c.-1957_-1956insGTGTGTGTGTGTG	FAM47B	ENSG00000189132.6	transcript	ENST00000329357.6	protein_coding		1920		chrX	TogoVar
FAM47E_chr4_76246721_76288783	76288445	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02895.hp1 others(4): Show HG02145.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0166 a0005c0005t0001g0038 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0166 a0005c0005t0001g0038 a0005c0005t0001g0052 a0005c0005t0001g0176	7	392	0.0179	13	c.49 others(24): Show c.4987_*4988insTTTTTTTTTTTTT	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding		4663		chr4	TogoVar
FAM50A_chrX_154439141_154455654	154444190	G G	GCCGCCGC others(6): Show GCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02723.hp2 others(11): Show HG02055.hp1 HG02258.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0003 a0001c0001t0003g0017	14	275	0.0509	13	c.-31 others(20): Show c.-31_-19dupCGCCGCCGCCGCC	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding	1/13	18	INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM50A_chrX_154439141_154455654	154448072	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	275	0.0036	13	c.443 others(28): Show c.443-410_443-398dupTTTTTTTTTTTTT	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM53A_chr4_1634887_1689313	1684352	C C	CGGCCGCC others(6): Show CGGCCGCCCTCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0129 a0001c0001t0046g0129	1	350	0.0029	13	c.-28 others(22): Show c.-285_-284insAATGAGGGCGGCC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding		40		chr4	TogoVar
FAM53B_chr10_124614292_124749378	124744341	A A	AGGCGGCG others(6): Show AGGCGGCGTGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(22): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00621.hp1 HG01168.hp2 HG01943.hp2 HG02055.hp1 HG02132.hp1 HG02155.hp1 HG02280.hp1 HG04204.hp1 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18963.hp2 NA18967.hp1 NA18977.hp2 NA18988.hp2 NA19003.hp1 NA19064.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 others(9): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0007c0007t0019	a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0014 others(22): Show a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0014 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0019g0016 a0001c0001t0019g0017 a0001c0001t0020g0007 a0001c0001t0020g0015 a0001c0001t0020g0026 a0001c0001t0029g0006 a0001c0001t0029g0024 a0001c0001t0030g0005 a0001c0001t0030g0010 a0001c0001t0038g0021 a0001c0001t0039g0029 a0001c0001t0040g0008 a0001c0001t0041g0013 a0001c0001t0042g0012 a0001c0001t0043g0025 a0007c0007t0019g0027	25	330	0.0758	13	c.-51 others(22): Show c.-516_-504dupGCCGCACGCCGCC	FAM53B	ENSG00000189319.14	transcript	ENST00000337318.8	protein_coding	1/5	37629		chr10	TogoVar
FAM72B_chr1_121162646_121189340	121180379	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02717.hp2 others(2): Show HG02145.hp1 HG02257.hp2 HG02717.hp2 HG03225.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0002c0002t0001 a0001c0001t0001 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0129 a0001c0001t0017g0186 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0129 a0001c0001t0017g0186 a0002c0002t0001g0142	5	380	0.0132	13	c.230 others(28): Show c.230+879_230+891dupTTTTTTTTTTTTT	FAM72B	ENSG00000188610.12	transcript	ENST00000369390.7	protein_coding	2/3			chr1	TogoVar
FAM72B_chr1_121162646_121189340	121184041	G G	GATTCTCC others(6): Show GATTCTCCTCCGTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0187 a0001c0001t0018g0187	1	380	0.0026	13	c.-56 others(22): Show c.-565_-553dupGACGGAGGAGAAT	FAM72B	ENSG00000188610.12	transcript	ENST00000369390.7	protein_coding	1/4	553		chr1	TogoVar
FAM72D_chr1_145090974_145117696	145113861	T T	TTTTTGTT others(6): Show TTTTTGTTTGTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0017 a0007c0007t0017	a0007c0007t0017g0136 a0007c0007t0017g0136	1	320	0.0031	13	c.22 others(24): Show c.2264_*2265insTTTTGTTTGTTTG	FAM72D	ENSG00000215784.6	transcript	ENST00000400889.3	protein_coding		1166		chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759765	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 NA18522.hp2 HG02615.hp1 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0022 a0001c0002t0031 a0001c0002t0020 a0001c0002t0022 a0001c0002t0031	a0001c0002t0020g0018 a0001c0002t0022g0020 a0001c0002t0031g0019 a0001c0002t0020g0018 a0001c0002t0022g0020 a0001c0002t0031g0019	3	264	0.0114	13	c.837 others(28): Show c.837+150_837+162dupTTGTTTTTTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759779	G G	GTTTTTTG others(6): Show GTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG03834.hp1 HG02683.hp1 HG03017.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0025 a0001c0002t0002 a0001c0002t0025	a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0025g0057 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0025g0057	3	264	0.0114	13	c.837 others(28): Show c.837+158_837+159insGTTTTTTTTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759779	G G	GTTTTTTT others(6): Show GTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0038 a0001c0002t0044g0038	1	264	0.0038	13	c.837 others(28): Show c.837+159_837+160insGTTTTTTTTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759779	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01243.hp1 others(44): Show HG00597.hp1 HG00639.hp2 HG01243.hp1 HG01255.hp2 HG01884.hp1 HG02055.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18946.hp1 NA18961.hp1 NA18964.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19081.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(11): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0026 a0001c0002t0028 a0001c0002t0034 a0001c0002t0035 a0001c0002t0039	a0001c0002t0002g0004 a0001c0002t0002g0023 a0001c0002t0002g0030 others(37): Show a0001c0002t0002g0004 a0001c0002t0002g0023 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0080 a0001c0002t0003g0002 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0070 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0008g0215 a0001c0002t0008g0218 a0001c0002t0009g0008 a0001c0002t0009g0039 a0001c0002t0013g0004 a0001c0002t0017g0066 a0001c0002t0018g0051 a0001c0002t0019g0074 a0001c0002t0021g0075 a0001c0002t0026g0033 a0001c0002t0028g0221 a0001c0002t0034g0035 a0001c0002t0035g0077 a0001c0002t0039g0079	47	264	0.1780	13	c.837 others(28): Show c.837+162_837+163insTTTTTTTTTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759780	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02896.hp1 others(1): Show HG02258.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0012 a0001c0002t0009 a0001c0002t0012	a0001c0002t0009g0069 a0001c0002t0012g0024 a0001c0002t0012g0025 others(1): Show a0001c0002t0009g0069 a0001c0002t0012g0024 a0001c0002t0012g0025 a0001c0002t0012g0081	4	264	0.0152	13	c.837 others(28): Show c.837+162_837+163insTTTGTTTTTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM76A_chr1_27720961_27768116	27759781	T T	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01243.hp2 others(11): Show HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG03098.hp2 HG03195.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0016 a0001c0002t0030 others(1): Show a0001c0002t0004 a0001c0002t0016 a0001c0002t0030 a0001c0002t0040	a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0204 others(9): Show a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0207 a0001c0002t0004g0210 a0001c0002t0004g0211 a0001c0002t0004g0213 a0001c0002t0016g0208 a0001c0002t0030g0212 a0001c0002t0040g0209	14	264	0.0530	13	c.837 others(28): Show c.837+159_837+160insGTTTTTTGTTTTT	FAM76A	ENSG00000009780.16	transcript	ENST00000373954.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM83A_chr8_123177665_123215078	123205092	A A	ACTCCTTG others(6): Show ACTCCTTGCTGGTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	370	0.0027	13	c.774 others(30): Show c.774-2064_774-2063insTCCTTGCTGGTCC	FAM83A	ENSG00000147689.17	transcript	ENST00000690554.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM83B_chr6_54841771_54950099	54842733	A A	AATTGAAA others(6): Show AATTGAAAAGAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0157 a0001c0001t0034g0157	1	272	0.0037	13	c.-41 others(24): Show c.-4154_-4153insATTGAAAAGAAAC	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding		4037		chr6	TogoVar
FAM83E_chr19_48594961_48620076	48602686	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18951.hp2 NA19001.hp1 others(1): Show HG01978.hp1 NA18951.hp2 NA19001.hp1 NA19088.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0027 a0003c0002t0001 a0003c0002t0027	a0003c0002t0001g0071 a0003c0002t0001g0073 a0003c0002t0001g0094 others(1): Show a0003c0002t0001g0071 a0003c0002t0001g0073 a0003c0002t0001g0094 a0003c0002t0027g0063	4	414	0.0097	13	c.117 others(30): Show c.1176+795_1176+807dupTTTTTTTTTTTTT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19083.hp1 HG03927.hp1 NA19083.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0052 a0003c0002t0001g0117 a0003c0002t0001g0052 a0003c0002t0001g0117	2	414	0.0048	13	c.117 others(30): Show c.1176+789_1176+790insATATTTTTTTTTT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0009 a0001c0007t0009 a0001c0004t0009 a0001c0007t0009	a0001c0004t0009g0186 a0001c0007t0009g0189 a0001c0004t0009g0186 a0001c0007t0009g0189	2	414	0.0048	13	c.117 others(30): Show c.1176+789_1176+790insATATATATTTTTT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02615.hp1 HG02895.hp2 HG02056.hp2 HG02615.hp1 HG02895.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0009 a0001c0004t0053 a0004c0006t0001 a0001c0004t0009 a0001c0004t0053 a0004c0006t0001	a0001c0004t0009g0191 a0001c0004t0053g0187 a0004c0006t0001g0106 a0001c0004t0009g0191 a0001c0004t0053g0187 a0004c0006t0001g0106	3	414	0.0073	13	c.117 others(30): Show c.1176+789_1176+790insATATATATATTTT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01175.hp2 others(1): Show HG01070.hp2 HG01071.hp2 HG01175.hp2 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0001 a0003c0002 a0001c0007 a0002c0001 a0003c0002	a0001c0007t0012 a0002c0001t0015 a0003c0002t0001 a0001c0007t0012 a0002c0001t0015 a0003c0002t0001	a0001c0007t0012g0178 a0001c0007t0012g0181 a0002c0001t0015g0243 others(1): Show a0001c0007t0012g0178 a0001c0007t0012g0181 a0002c0001t0015g0243 a0003c0002t0001g0110	4	414	0.0097	13	c.117 others(30): Show c.1176+789_1176+790insATATATATATATT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0304 a0002c0001t0003g0304	1	414	0.0024	13	c.117 others(30): Show c.1176+789_1176+790insATATATATATATA	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar

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