Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC195_chr2_224698764_224721365	224706189	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	412	0.0024	-12	c.483 others(29): Show c.483-2314_483-2303delAAAAAAAAAAAA	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2			chr2	TogoVar
CCDC195_chr2_224698764_224721365	224707960	CTCCCTCC others(5): Show CTCCCTCCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG02896.hp2 others(2): Show HG01891.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	5	412	0.0121	-12	c.482 others(29): Show c.482+2001_482+2012delAGAAGGGAGGGA	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2			chr2	TogoVar
CCDC196_chr14_66481371_66503553	66484176	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	364	0.0028	-12	c.-23 others(23): Show c.-2326_-2315delATATATATATAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43217748	GACTGCCG others(5): Show GACTGCCGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	334	0.0030	-12	c.38 others(23): Show c.3811_*3822delTTCCTCGGCAGT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		3671		chr17	TogoVar
CCDC200_chr17_43216420_43233623	43221679	AGGAATCA others(5): Show AGGAATCAAAGTG	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	334	0.0030	-12	c.481 others(25): Show c.481-94_481-83delCACTTTGATTCC	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	3/3			chr17	TogoVar
CCDC201_chr7_45854994_45878082	45857901	GGAAAGAA others(5): Show GGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG01891.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0010 a0001c0011t0027 a0001c0001t0010 a0001c0011t0027	a0001c0001t0010g0120 a0001c0011t0027g0063 a0001c0001t0010g0120 a0001c0011t0027g0063	2	446	0.0045	-12	c.51 others(23): Show c.5172_*5183delTTTCTTTCTTTC	CCDC201	ENSG00000283247.2	transcript	ENST00000636578.2	protein_coding		2092		chr7	TogoVar
CCDC22_chrX_49230470_49255520	49235853	ACACACAC others(5): Show ACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	296	0.0034	-12	c.50+ others(25): Show c.50+179_50+190delGCACACACACAC	CCDC22	ENSG00000101997.13	transcript	ENST00000376227.4	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC25_chr8_27728316_27777640	27774166	CTTTATTT others(5): Show CTTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA19240.hp2 HG00639.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0082 a0001c0001t0013g0083 a0001c0001t0002g0082 a0001c0001t0013g0083	2	368	0.0054	-12	c.-16 others(23): Show c.-1638_-1627delTAAATAAATAAA	CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding		1527		chr8	TogoVar
CCDC28A_chr6_138768769_138798319	138788568	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(139): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0011g0024 a0002c0002t0001g0001 a0003c0003t0001g0152	142	366	0.3880	-12	c.500 others(27): Show c.500+192_500+203delTTTTTTTTTTTT	CCDC28A	ENSG00000024862.18	transcript	ENST00000617445.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC30_chr1_42458286_42662190	42538149	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show HG00099.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02109.hp1 HG02148.hp1 HG02300.hp2 HG02683.hp1 HG02698.hp1 HG03041.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0175 a0001c0001t0006g0171 a0001c0001t0006g0173 others(24): Show a0001c0001t0001g0175 a0001c0001t0006g0171 a0001c0001t0006g0173 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0010g0196 a0001c0001t0011g0172 a0001c0001t0011g0183 a0001c0001t0011g0184 a0001c0001t0011g0194 a0001c0001t0013g0170 a0001c0001t0013g0174 a0001c0001t0013g0185 a0001c0001t0013g0195	27	324	0.0833	-12	c.583 others(28): Show c.583-1004_583-993delAAAAAAAAAAAA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42551742	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	324	0.0031	-12	c.891 others(29): Show c.891-4392_891-4381delTGTGTGTGTGTG	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42631905	AAAAATGC others(5): Show AAAAATGCTGTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0045 a0001c0022t0045	a0001c0022t0045g0049 a0001c0022t0045g0049	1	324	0.0031	-12	c.196 others(31): Show c.1962-5329_1962-5318delAATGCTGTTTAA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42641215	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03195.hp1 HG02015.hp2 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0010 a0004c0011 a0001c0010 a0004c0011	a0001c0010t0005 a0004c0011t0009 a0001c0010t0005 a0004c0011t0009	a0001c0010t0005g0278 a0004c0011t0009g0003 a0001c0010t0005g0278 a0004c0011t0009g0003	2	324	0.0062	-12	c.210 others(31): Show c.2104-1223_2104-1212delTGTGTGTGTGTG	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42650497	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG03453.hp1 HG02896.hp1 HG03195.hp1 HG03453.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0009 a0004c0011t0009	a0004c0011t0009g0003 a0004c0011t0009g0004 a0004c0011t0009g0005 a0004c0011t0009g0003 a0004c0011t0009g0004 a0004c0011t0009g0005	3	324	0.0093	-12	c.253 others(31): Show c.2539-2847_2539-2836delGTGTGTGTGTGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC32_chr15_40548099_40570042	40551809	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0006c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 others(19): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0002c0002t0001 a0002c0002t0009 a0004c0004t0015 a0006c0005t0007	a0001c0001t0004g0002 a0001c0001t0004g0060 a0001c0001t0004g0181 others(52): Show a0001c0001t0004g0002 a0001c0001t0004g0060 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0189 a0001c0001t0007g0009 a0001c0001t0007g0012 a0001c0001t0007g0179 a0001c0001t0007g0185 a0001c0001t0014g0008 a0001c0001t0014g0186 a0001c0001t0014g0188 a0001c0001t0015g0015 a0001c0001t0015g0039 a0001c0001t0015g0111 a0001c0001t0016g0106 a0001c0001t0017g0105 a0001c0001t0017g0107 a0001c0001t0017g0109 a0001c0001t0020g0030 a0001c0001t0020g0054 a0001c0001t0020g0178 a0001c0001t0022g0057 a0001c0001t0022g0059 a0001c0001t0022g0187 a0001c0001t0024g0029 a0001c0001t0025g0055 a0001c0001t0025g0058 a0001c0001t0027g0045 a0001c0001t0027g0144 a0001c0001t0028g0023 a0001c0001t0029g0056 a0001c0001t0029g0177 a0001c0001t0044g0146 a0001c0001t0046g0145 a0001c0001t0049g0063 a0001c0001t0053g0183 a0001c0001t0054g0184 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0009g0005 a0002c0002t0009g0022 a0002c0002t0009g0070 a0002c0002t0009g0071 a0004c0004t0015g0110 a0006c0005t0007g0180	167	400	0.4175	-12	c.21 others(23): Show c.2150_*2161delTTTTTTTTTTTT	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding		1289		chr15	TogoVar
CCDC32_chr15_40548099_40570042	40552771	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02145.hp2 others(9): Show HG01243.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG06807.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 others(1): Show a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0004c0004t0015	a0001c0001t0015g0015 a0001c0001t0015g0111 a0001c0001t0017g0105 others(3): Show a0001c0001t0015g0015 a0001c0001t0015g0111 a0001c0001t0017g0105 a0001c0001t0017g0109 a0001c0001t0028g0023 a0004c0004t0015g0110	12	400	0.0300	-12	c.11 others(23): Show c.1188_*1199delTTTTTTTTTTTT	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding		327		chr15	TogoVar
CCDC32_chr15_40548099_40570042	40553905	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00733.hp1 others(31): Show HG00544.hp1 HG00609.hp1 HG00733.hp1 HG01070.hp1 HG01109.hp2 HG01192.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02083.hp1 HG02135.hp2 HG02486.hp1 HG03669.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18950.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18978.hp1 NA18980.hp1 NA18990.hp1 NA19005.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19078.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0007 a0006c0005 a0001c0001 a0005c0007 a0006c0005	a0001c0001t0007 a0001c0001t0013 a0001c0001t0026 others(3): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0026 a0001c0001t0044 a0005c0007t0013 a0006c0005t0007	a0001c0001t0007g0009 a0001c0001t0007g0012 a0001c0001t0007g0179 others(10): Show a0001c0001t0007g0009 a0001c0001t0007g0012 a0001c0001t0007g0179 a0001c0001t0007g0185 a0001c0001t0013g0011 a0001c0001t0013g0044 a0001c0001t0013g0087 a0001c0001t0013g0116 a0001c0001t0026g0048 a0001c0001t0026g0157 a0001c0001t0044g0146 a0005c0007t0013g0142 a0006c0005t0007g0180	34	400	0.0850	-12	c.54 others(19): Show c.54_*65delACACACACACAC	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding	4/4	54		chr15	TogoVar
CCDC34_chr11_27333512_27368215	27346474	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp2 HG02040.hp1 others(14): Show HG00609.hp2 HG01257.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp1 HG02602.hp1 HG03492.hp2 NA18960.hp1 NA18967.hp1 NA18981.hp2 NA18989.hp1 NA19001.hp1 NA19010.hp2 NA19058.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0032 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0002g0121 a0001c0001t0002g0124	17	358	0.0475	-12	c.606 others(29): Show c.606+3846_606+3857delCTTCCTTCCTTC	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	3/5			chr11	TogoVar
CCDC38_chr12_95862048_95947614	95870485	ATTAGGTG others(5): Show ATTAGGTGCCGTG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0090 a0002c0004t0001g0090	1	350	0.0029	-12	c.148 others(29): Show c.1485-924_1485-913delCACGGCACCTAA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	14/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95893407	TTCCCTCC others(5): Show TTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0200 a0006c0011t0001g0200	1	350	0.0029	-12	c.772 others(29): Show c.772+1570_772+1581delGGGAGGGAGGGA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	8/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908443	AAGAGGGA others(5): Show AAGAGGGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19043.hp1 HG01074.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0204 a0001c0005t0001g0187 a0001c0002t0001g0204 a0001c0005t0001g0187	2	350	0.0057	-12	c.305 others(29): Show c.305-2004_305-1993delCCCTCTCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908651	AGAGGGAG others(5): Show AGAGGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03704.hp2 HG00099.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0070 a0001c0005t0001g0210 a0001c0001t0001g0070 a0001c0005t0001g0210	2	350	0.0057	-12	c.305 others(29): Show c.305-2212_305-2201delCTCTCCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908672	AGAGGGAG others(5): Show AGAGGGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03491.hp1 HG03492.hp2 others(1): Show HG01123.hp1 HG03491.hp1 HG03492.hp2 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0320 a0002c0004t0001g0001 a0002c0004t0001g0074 a0002c0003t0002g0320 a0002c0004t0001g0001 a0002c0004t0001g0074	4	350	0.0114	-12	c.305 others(29): Show c.305-2233_305-2222delCCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95916379	GCCTTCCT others(5): Show GCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02622.hp2 HG02630.hp2 others(4): Show HG01167.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0007t0001 a0001c0008t0001 a0001c0002t0001 a0001c0007t0001 a0001c0008t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0007t0001g0176 others(4): Show a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0007t0001g0176 a0001c0008t0001g0015 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0008t0001g0019	7	350	0.0200	-12	c.304 others(27): Show c.304+738_304+749delAAGGAAGGAAGG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95916408	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0242 a0005c0010t0001g0243 a0005c0010t0001g0244 others(1): Show a0005c0010t0001g0242 a0005c0010t0001g0243 a0005c0010t0001g0244 a0005c0010t0001g0245	4	350	0.0114	-12	c.304 others(27): Show c.304+709_304+720delAAAGGAAGGAAG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95944327	TTTTATTT others(5): Show TTTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0002 a0007 a0002 a0007	a0002c0004 a0007c0015 a0002c0004 a0007c0015	a0002c0004t0001 a0007c0015t0001 a0002c0004t0001 a0007c0015t0001	a0002c0004t0001g0144 a0007c0015t0001g0169 a0002c0004t0001g0144 a0007c0015t0001g0169	2	350	0.0057	-12	c.-19 others(23): Show c.-1923_-1912delTAAATAAATAAA	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding		1714		chr12	TogoVar
CCDC38_chr12_95862048_95947614	95946576	GCTCCCCC others(5): Show GCTCCCCCTCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02280.hp1 others(7): Show HG00639.hp2 HG01891.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02896.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0008c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0001c0007t0001 a0008c0016t0001	a0001c0001t0001g0232 a0001c0002t0001g0182 a0001c0002t0001g0207 others(7): Show a0001c0001t0001g0232 a0001c0002t0001g0182 a0001c0002t0001g0207 a0001c0002t0003g0014 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0217 a0001c0005t0001g0224 a0001c0007t0001g0189 a0008c0016t0001g0247	10	350	0.0286	-12	c.-41 others(23): Show c.-4172_-4161delGGGGAGGGGGAG	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding		3963		chr12	TogoVar
CCDC39_chr3_180609008_180684489	180677168	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp2 HG02074.hp2 others(2): Show HG01070.hp2 HG01167.hp2 HG02074.hp2 HG02965.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0023 a0001c0001t0001g0243 a0001c0001t0003g0024 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0243 a0001c0001t0003g0024 a0001c0001t0006g0244 a0001c0003t0002g0158	5	254	0.0197	-12	c.90+ others(27): Show c.90+2111_90+2122delTATATATATATA	CCDC39	ENSG00000284862.3	transcript	ENST00000476379.6	protein_coding	1/19			chr3	TogoVar
CCDC3_chr10_12891625_13006713	12917174	CTTCTTCT others(5): Show CTTCTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	392	0.0026	-12	c.550 others(31): Show c.550-18507_550-18496delAAAAAAGAAGAA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12917180	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0289 a0001c0001t0009g0289	1	392	0.0026	-12	c.550 others(31): Show c.550-18513_550-18502delAAAAAAAAAAAA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12925704	GCCATTGT others(5): Show GCCATTGTATCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02055.hp1 others(8): Show HG00280.hp2 HG00544.hp2 HG02055.hp1 HG03130.hp1 HG03579.hp1 NA18950.hp2 NA18953.hp1 NA18969.hp1 NA18978.hp1 NA19003.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0002c0003t0011 a0004c0006t0004	a0001c0001t0001g0286 a0001c0001t0003g0075 a0001c0001t0003g0261 others(8): Show a0001c0001t0001g0286 a0001c0001t0003g0075 a0001c0001t0003g0261 a0001c0001t0003g0274 a0001c0001t0004g0244 a0001c0001t0004g0381 a0001c0001t0005g0029 a0001c0001t0005g0378 a0001c0001t0010g0377 a0002c0003t0011g0392 a0004c0006t0004g0193	11	392	0.0281	-12	c.550 others(31): Show c.550-27037_550-27026delAAGATACAATGG	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12977292	AGGAAAGG others(5): Show AGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0301 a0001c0001t0017g0301	1	392	0.0026	-12	c.549 others(31): Show c.549+21034_549+21045delCCTTTCCTTTCC	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12982121	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	392	0.0026	-12	c.549 others(31): Show c.549+16205_549+16216delTTTTTTTTTTTT	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC3_chr10_12891625_13006713	12983128	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0115 a0001c0002t0008g0115	1	392	0.0026	-12	c.549 others(31): Show c.549+15198_549+15209delTATATATATACA	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CCDC40_chr17_80031642_80105613	80035914	CGGCCCGC others(5): Show CGGCCCGCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG01243.hp2 others(7): Show HG00642.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG02257.hp2 HG02273.hp2 HG02735.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0050 a0002c0018 a0003c0015 others(1): Show a0001c0050 a0002c0018 a0003c0015 a0003c0016	a0001c0050t0001 a0002c0018t0002 a0003c0015t0002 others(1): Show a0001c0050t0001 a0002c0018t0002 a0003c0015t0002 a0003c0016t0001	a0001c0050t0001g0193 a0002c0018t0002g0318 a0003c0015t0002g0288 others(7): Show a0001c0050t0001g0193 a0002c0018t0002g0318 a0003c0015t0002g0288 a0003c0015t0002g0290 a0003c0015t0002g0293 a0003c0015t0002g0294 a0003c0015t0002g0295 a0003c0016t0001g0291 a0003c0016t0001g0301 a0003c0016t0001g0302	10	378	0.0265	-12	c.-74 others(21): Show c.-748_-737delGGCCCGCCCCCG	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding		727		chr17	TogoVar
CCDC40_chr17_80031642_80105613	80051628	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0003 a0016c0037t0003	a0016c0037t0003g0347 a0016c0037t0003g0347	1	378	0.0027	-12	c.115 others(31): Show c.1159+1360_1159+1371delAAAAAAAAAAAA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80091302	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp2 HG02970.hp1 others(2): Show HG00280.hp2 HG01256.hp2 HG02970.hp1 HG03654.hp1 HG03669.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0002 a0002c0020 a0023c0041 a0001c0002 a0002c0020 a0023c0041	a0001c0002t0003 a0002c0020t0002 a0023c0041t0002 a0001c0002t0003 a0002c0020t0002 a0023c0041t0002	a0001c0002t0003g0243 a0001c0002t0003g0263 a0002c0020t0002g0296 others(2): Show a0001c0002t0003g0243 a0001c0002t0003g0263 a0002c0020t0002g0296 a0002c0020t0002g0300 a0023c0041t0002g0212	5	378	0.0132	-12	c.283 others(31): Show c.2832+1448_2832+1459delCACACACACACA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC42_chr17_8724935_8749836	8729646	AATATAAA others(5): Show AATATAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA18994.hp2 HG02630.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0003g0179 a0001c0001t0001g0030 a0001c0001t0003g0179	2	410	0.0049	-12	c.47 others(21): Show c.472_*483delATTTTTTTATAT	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		288		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8743305	TGTTTAGT others(5): Show TGTTTAGTCCTAA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	410	0.0024	-12	c.294 others(27): Show c.294+309_294+320delTTAGGACTAAAC	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding	3/6			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	352	0.0028	-12	c.137 others(29): Show c.1371+563_1371+574delTTTTTTTTTTTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63759515	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02155.hp2 HG03041.hp1 others(2): Show HG00280.hp1 HG02155.hp2 HG03041.hp1 HG03831.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0052 a0001c0001t0001g0100 a0001c0001t0001g0117 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0010g0237	5	352	0.0142	-12	c.735 others(29): Show c.735+1387_735+1398delAATATATATATA	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	6/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63759527	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	352	0.0028	-12	c.735 others(29): Show c.735+1375_735+1386delTATATATATATA	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	6/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63774228	CGGCGGTG others(5): Show CGGCGGTGGTGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(57): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18906.hp2 NA18950.hp1 NA18952.hp2 NA18971.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0150 others(54): Show a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0213 a0001c0001t0003g0226 a0001c0001t0003g0343 a0001c0001t0014g0344	60	352	0.1705	-12	c.-84 others(21): Show c.-848_-837delACCACCACCGCC	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding		632		chr17	TogoVar
CCDC50_chr3_191324394_191403659	191330296	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0098 a0002c0001t0003g0098	1	406	0.0025	-12	c.49+ others(25): Show c.49+595_49+606delCACACACACACA	CCDC50	ENSG00000152492.15	transcript	ENST00000392455.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC57_chr17_82096470_82217842	82133431	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01978.hp1 others(1): Show HG00733.hp1 HG01168.hp1 HG01978.hp1 HG02004.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0003c0004t0003 a0002c0003t0002 a0003c0004t0003	a0002c0003t0002g0040 a0003c0004t0003g0088 a0003c0004t0003g0089 others(1): Show a0002c0003t0002g0040 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0199	4	252	0.0159	-12	c.257 others(29): Show c.2577+630_2577+641delTTTTTTTTTTTT	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	16/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82143472	ACACACAC others(5): Show ACACACACACAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0011 a0012 a0024 a0025 a0026 a0027	a0001c0001 a0001c0023 a0001c0027 others(11): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0011c0016 a0012c0017 a0024c0030 a0025c0032 a0026c0031 a0027c0020	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0011c0016t0001 a0012c0017t0001 a0024c0030t0001 a0025c0032t0001 a0026c0031t0001 a0027c0020t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(118): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0004g0144 a0001c0023t0001g0248 a0001c0027t0001g0072 a0004c0007t0002g0069 a0004c0007t0002g0174 a0004c0007t0002g0175 a0004c0007t0002g0176 a0004c0007t0002g0177 a0004c0007t0002g0178 a0004c0007t0002g0180 a0004c0029t0002g0157 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0011c0016t0001g0106 a0011c0016t0001g0184 a0012c0017t0001g0021 a0012c0017t0001g0022 a0024c0030t0001g0132 a0025c0032t0001g0109 a0026c0031t0001g0002 a0027c0020t0002g0063	121	252	0.4802	-12	c.245 others(31): Show c.2455+8076_2455+8087delCCTGTGTGTGTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82148125	AGATGGAT others(5): Show AGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0011 a0012 a0024 a0025 a0026 a0027	a0001c0001 a0001c0023 a0001c0027 others(11): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0011c0016 a0012c0017 a0024c0030 a0025c0032 a0026c0031 a0027c0020	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0011c0016t0001 a0012c0017t0001 a0024c0030t0001 a0025c0032t0001 a0026c0031t0001 a0027c0020t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(118): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0004g0144 a0001c0023t0001g0248 a0001c0027t0001g0072 a0004c0007t0002g0069 a0004c0007t0002g0174 a0004c0007t0002g0175 a0004c0007t0002g0176 a0004c0007t0002g0177 a0004c0007t0002g0178 a0004c0007t0002g0180 a0004c0029t0002g0157 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0011c0016t0001g0106 a0011c0016t0001g0184 a0012c0017t0001g0021 a0012c0017t0001g0022 a0024c0030t0001g0132 a0025c0032t0001g0109 a0026c0031t0001g0002 a0027c0020t0002g0063	121	252	0.4802	-12	c.245 others(31): Show c.2455+3423_2455+3434delCATCCATCCATC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184023	GCGCGCGC others(5): Show GCGCGCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0003 a0018c0018t0003	a0018c0018t0003g0009 a0018c0018t0003g0009	1	252	0.0040	-12	c.105 others(28): Show c.1053-103_1053-92delTGTGCGCGCGCG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184025	GCGCGCGC others(5): Show GCGCGCGCACACA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	252	0.0040	-12	c.105 others(28): Show c.1053-105_1053-94delTGTGTGCGCGCG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184293	AGTCATGA others(5): Show AGTCATGAGGTAG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0001 a0024c0030t0001	a0024c0030t0001g0132 a0024c0030t0001g0132	1	252	0.0040	-12	c.105 others(29): Show c.1053-373_1053-362delCTACCTCATGAC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18			chr17	TogoVar

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