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
CSGALNACT1_chr8_19399161_19762277	19542200	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	238	0.0042	-10	c.-29 others(31): Show c.-296-36080_-296-36071delGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19581605	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	238	0.0042	-10	c.-29 others(31): Show c.-297+20156_-297+20165delGTTTTGTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19590640	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02965.hp2 HG03516.hp2 HG02897.hp1 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0003 a0001c0002t0016	a0001c0002t0003g0098 a0001c0002t0016g0049 a0001c0002t0016g0162 a0001c0002t0003g0098 a0001c0002t0016g0049 a0001c0002t0016g0162	3	238	0.0126	-10	c.-29 others(31): Show c.-297+11121_-297+11130delAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599482	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0018 a0002c0003t0005g0018	1	238	0.0042	-10	c.-29 others(29): Show c.-297+2279_-297+2288delCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19603047	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01069.hp1 others(28): Show HG00408.hp1 HG00597.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01361.hp1 HG01515.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02976.hp2 HG03492.hp2 HG03834.hp2 NA18906.hp1 NA18942.hp1 NA18966.hp1 NA18977.hp1 NA18984.hp2 NA19011.hp1 NA19056.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0008 a0010c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0002t0005 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0047 a0001c0007t0039 a0002c0003t0003 a0002c0003t0005 a0002c0003t0012 a0002c0004t0003 a0002c0008t0003 a0010c0018t0003	a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0005g0187 others(28): Show a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0005g0187 a0001c0001t0010g0088 a0001c0001t0010g0122 a0001c0001t0010g0150 a0001c0001t0010g0202 a0001c0001t0010g0231 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0080 a0001c0002t0005g0172 a0001c0002t0022g0169 a0001c0002t0023g0096 a0001c0002t0024g0147 a0001c0002t0024g0148 a0001c0002t0047g0197 a0001c0007t0039g0041 a0002c0003t0003g0048 a0002c0003t0003g0105 a0002c0003t0003g0109 a0002c0003t0003g0127 a0002c0003t0005g0100 a0002c0003t0005g0113 a0002c0003t0005g0190 a0002c0003t0012g0066 a0002c0004t0003g0020 a0002c0008t0003g0140 a0002c0008t0003g0155 a0002c0008t0003g0156 a0010c0018t0003g0039	31	238	0.1303	-10	c.-39 others(29): Show c.-391-1192_-391-1183delGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19612946	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp1 NA19030.hp2 HG01106.hp1 HG01934.hp1 NA19030.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0003 a0012c0021 a0001c0002 a0002c0003 a0012c0021	a0001c0002t0004 a0002c0003t0011 a0012c0021t0040 a0001c0002t0004 a0002c0003t0011 a0012c0021t0040	a0001c0002t0004g0038 a0002c0003t0011g0188 a0012c0021t0040g0178 a0001c0002t0004g0038 a0002c0003t0011g0188 a0012c0021t0040g0178	3	238	0.0126	-10	c.-39 others(31): Show c.-391-11091_-391-11082delTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19618647	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02647.hp1 HG02717.hp2 HG01070.hp2 HG02647.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0024 a0001c0002t0043 a0002c0003t0003 a0001c0002t0024 a0001c0002t0043 a0002c0003t0003	a0001c0002t0024g0148 a0001c0002t0043g0097 a0002c0003t0003g0099 a0001c0002t0024g0148 a0001c0002t0043g0097 a0002c0003t0003g0099	3	238	0.0126	-10	c.-39 others(31): Show c.-391-16792_-391-16783delCTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630194	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04115.hp2 HG02559.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0145 a0001c0001t0019g0016 a0001c0001t0001g0145 a0001c0001t0019g0016	2	238	0.0084	-10	c.-39 others(31): Show c.-391-28339_-391-28330delCACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630234	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01361.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG01361.hp1 HG02559.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0002c0003 a0010c0018 a0001c0002 a0002c0003 a0010c0018	a0001c0002t0024 a0002c0003t0005 a0010c0018t0003 a0001c0002t0024 a0002c0003t0005 a0010c0018t0003	a0001c0002t0024g0147 a0001c0002t0024g0148 a0002c0003t0005g0113 others(1): Show a0001c0002t0024g0147 a0001c0002t0024g0148 a0002c0003t0005g0113 a0010c0018t0003g0039	4	238	0.0168	-10	c.-39 others(31): Show c.-391-28379_-391-28370delTACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666795	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18522.hp1 HG01978.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0085 a0001c0002t0016g0173 a0001c0001t0001g0085 a0001c0002t0016g0173	2	238	0.0084	-10	c.-39 others(31): Show c.-391-64940_-391-64931delTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666799	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0051 a0002c0003t0007g0051	1	238	0.0042	-10	c.-39 others(31): Show c.-391-64944_-391-64935delTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666865	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	238	0.0042	-10	c.-39 others(31): Show c.-391-65010_-391-65001delTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666873	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0092 a0002c0003t0011g0092	1	238	0.0042	-10	c.-39 others(31): Show c.-391-65018_-391-65009delTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19676086	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0057 a0002c0004t0013g0057	1	238	0.0042	-10	c.-39 others(31): Show c.-391-74231_-391-74222delGTTTTGTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19727327	ATTTGGTT others(3): Show ATTTGGTTTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(99): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp2 NA18953.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0014	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0001c0017 a0002c0003 a0002c0004 a0002c0008 a0003c0005 a0004c0009 a0006c0023 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0035 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0024 a0001c0002t0025 a0001c0002t0043 a0001c0006t0002 a0001c0007t0021 a0001c0007t0031 a0001c0010t0018 a0001c0017t0023 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0003t0015 a0002c0003t0020 a0002c0003t0026 a0002c0003t0034 a0002c0003t0046 a0002c0004t0013 a0002c0008t0003 a0003c0005t0004 a0004c0009t0003 a0006c0023t0001 a0014c0013t0004	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 others(99): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0163 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0006g0028 a0001c0001t0006g0152 a0001c0001t0010g0122 a0001c0001t0010g0150 a0001c0001t0010g0231 a0001c0001t0017g0121 a0001c0001t0017g0165 a0001c0001t0035g0207 a0001c0001t0036g0225 a0001c0002t0002g0027 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0164 a0001c0002t0002g0234 a0001c0002t0003g0098 a0001c0002t0004g0144 a0001c0002t0005g0050 a0001c0002t0005g0075 a0001c0002t0005g0172 a0001c0002t0006g0047 a0001c0002t0006g0183 a0001c0002t0007g0142 a0001c0002t0007g0189 a0001c0002t0008g0035 a0001c0002t0008g0143 a0001c0002t0008g0216 a0001c0002t0008g0232 a0001c0002t0008g0237 a0001c0002t0011g0177 a0001c0002t0012g0175 a0001c0002t0014g0032 a0001c0002t0016g0173 a0001c0002t0024g0147 a0001c0002t0024g0148 a0001c0002t0025g0001 a0001c0002t0043g0097 a0001c0006t0002g0135 a0001c0006t0002g0136 a0001c0007t0021g0030 a0001c0007t0031g0029 a0001c0010t0018g0026 a0001c0017t0023g0011 a0002c0003t0003g0105 a0002c0003t0003g0109 a0002c0003t0003g0127 a0002c0003t0003g0228 a0002c0003t0004g0006 a0002c0003t0004g0104 a0002c0003t0004g0235 a0002c0003t0005g0093 a0002c0003t0007g0128 a0002c0003t0007g0176 a0002c0003t0009g0072 a0002c0003t0011g0092 a0002c0003t0015g0133 a0002c0003t0020g0101 a0002c0003t0026g0002 a0002c0003t0034g0054 a0002c0003t0046g0081 a0002c0004t0013g0124 a0002c0008t0003g0140 a0003c0005t0004g0007 a0003c0005t0004g0094 a0003c0005t0004g0184 a0004c0009t0003g0215 a0006c0023t0001g0196 a0014c0013t0004g0220	102	238	0.4286	-10	c.-39 others(31): Show c.-392+29849_-392+29858delCCAAACCAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43143493	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	398	0.0025	-10	c.-25 others(29): Show c.-254+4961_-254+4970delTGTGTGTGTG	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43146982	TTTTTTTT others(3): Show TTTTTTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02818.hp1 others(2): Show HG02258.hp2 HG02622.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0001g0272 a0001c0001t0001g0273	5	398	0.0126	-10	c.-25 others(29): Show c.-253-7914_-253-7905delTTTTTTTGTG	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7			chr10	TogoVar
CSH1_chr17_63889918_63901574	63898130	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	-10	c.-16 others(21): Show c.-1629_-1620delAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1557		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898136	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01243.hp2 others(3): Show HG00323.hp1 HG01099.hp1 HG01243.hp2 HG03130.hp1 HG04115.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	6	428	0.0140	-10	c.-16 others(21): Show c.-1635_-1626delGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1563		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898140	TTCTTTCT others(3): Show TTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp2 HG02055.hp2 others(5): Show HG01358.hp1 HG01358.hp2 HG02055.hp2 HG02922.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0003 a0001c0001t0001 a0003c0007t0003	a0001c0001t0001g0001 a0003c0007t0003g0016 a0001c0001t0001g0001 a0003c0007t0003g0016	8	428	0.0187	-10	c.-16 others(21): Show c.-1639_-1630delGAGAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1567		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912811	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0033 a0005c0015t0001g0033	1	438	0.0023	-10	c.-16 others(21): Show c.-1625_-1616delGAAAGAAAGA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1554		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912819	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	438	0.0023	-10	c.-16 others(21): Show c.-1633_-1624delGAAAGAAAGA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1562		chr17	TogoVar
CSK_chr15_74777080_74808197	74779556	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01109.hp2 others(27): Show HG00140.hp2 HG00544.hp2 HG01109.hp2 HG01943.hp1 HG02015.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG04184.hp2 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18954.hp1 NA18962.hp1 NA18966.hp1 NA18985.hp2 NA19009.hp2 NA20129.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0003c0007	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0005t0005 a0001c0008t0004 a0001c0009t0001 a0003c0007t0004	a0001c0001t0001g0012 a0001c0001t0001g0100 a0001c0001t0001g0182 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0100 a0001c0001t0001g0182 a0001c0001t0012g0101 a0001c0002t0001g0005 a0001c0005t0005g0014 a0001c0005t0005g0054 a0001c0005t0005g0055 a0001c0005t0005g0056 a0001c0005t0005g0057 a0001c0005t0005g0058 a0001c0005t0005g0059 a0001c0005t0005g0060 a0001c0005t0005g0061 a0001c0005t0005g0062 a0001c0008t0004g0137 a0001c0009t0001g0136 a0003c0007t0004g0140 a0003c0007t0004g0141 a0003c0007t0004g0142	30	394	0.0761	-10	c.-32 others(21): Show c.-3229_-3220delTTTTGTTTTG	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding		2523		chr15	TogoVar
CSMD1_chr8_2930361_4999914	3026364	GCCTCACT others(3): Show GCCTCACTGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0027 a0002c0041t0027	a0002c0041t0027g0018 a0002c0041t0027g0018	1	126	0.0079	-10	c.785 others(29): Show c.7855+2945_7855+2954delTCCAGTGAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3026494	GCCTCACT others(3): Show GCCTCACTGGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	-10	c.785 others(29): Show c.7855+2815_7855+2824delTCCAGTGAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3059359	TTTTTCTC others(3): Show TTTTTCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00735.hp1 others(39): Show HG00099.hp2 HG00423.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG02129.hp1 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA20129.hp1	a0001 a0004 a0008 others(13): Show a0001 a0004 a0008 a0009 a0014 a0016 a0018 a0021 a0022 a0025 a0026 a0030 a0031 a0037 a0038 a0039	a0001c0001 a0001c0003 a0001c0005 others(34): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0021 a0001c0026 a0001c0039 a0001c0040 a0001c0047 a0001c0049 a0001c0050 a0001c0073 a0001c0080 a0001c0093 a0001c0103 a0001c0105 a0001c0108 a0004c0087 a0004c0099 a0008c0008 a0008c0067 a0009c0113 a0014c0010 a0016c0063 a0018c0044 a0021c0016 a0022c0013 a0025c0096 a0026c0082 a0030c0052 a0031c0069 a0037c0101 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0003t0008 others(38): Show a0001c0001t0002 a0001c0001t0039 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0005t0002 a0001c0005t0007 a0001c0006t0060 a0001c0007t0001 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0026t0006 a0001c0039t0066 a0001c0040t0019 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0073t0007 a0001c0080t0040 a0001c0093t0009 a0001c0103t0033 a0001c0105t0001 a0001c0108t0054 a0004c0087t0001 a0004c0099t0014 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0014c0010t0070 a0016c0063t0010 a0018c0044t0064 a0021c0016t0048 a0022c0013t0007 a0025c0096t0067 a0026c0082t0052 a0030c0052t0049 a0031c0069t0043 a0037c0101t0008 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(39): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0093t0009g0007 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0108t0054g0074 a0004c0087t0001g0022 a0004c0099t0014g0020 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0014c0010t0070g0084 a0016c0063t0010g0045 a0018c0044t0064g0085 a0021c0016t0048g0106 a0022c0013t0007g0112 a0025c0096t0067g0116 a0026c0082t0052g0097 a0030c0052t0049g0098 a0031c0069t0043g0100 a0037c0101t0008g0023 a0038c0066t0010g0032 a0039c0009t0001g0002	42	126	0.3333	-10	c.747 others(29): Show c.7475-6722_7475-6713delGCAGAGAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3068955	CCCAACAG others(3): Show CCCAACAGAAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	-10	c.747 others(31): Show c.7475-16318_7475-16309delCTTCTGTTGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083608	TTTTATAT others(3): Show TTTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-10	c.747 others(29): Show c.7474+3479_7474+3488delTATATATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083644	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0113 a0009c0113	a0009c0113t0011 a0009c0113t0011	a0009c0113t0011g0043 a0009c0113t0011g0043	1	126	0.0079	-10	c.747 others(29): Show c.7474+3443_7474+3452delAAAAAATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083646	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0026 a0026	a0026c0082 a0026c0082	a0026c0082t0052 a0026c0082t0052	a0026c0082t0052g0097 a0026c0082t0052g0097	1	126	0.0079	-10	c.747 others(29): Show c.7474+3441_7474+3450delAAAAAAAATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083648	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0016 a0016	a0016c0063 a0016c0063	a0016c0063t0010 a0016c0063t0010	a0016c0063t0010g0045 a0016c0063t0010g0045	1	126	0.0079	-10	c.747 others(29): Show c.7474+3439_7474+3448delAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3104710	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0113 a0009c0113	a0009c0113t0011 a0009c0113t0011	a0009c0113t0011g0043 a0009c0113t0011g0043	1	126	0.0079	-10	c.694 others(29): Show c.6949+1808_6949+1817delAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	46/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02280.hp1 others(18): Show HG01243.hp1 HG01884.hp1 HG02280.hp1 HG02572.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18984.hp1 NA18995.hp1 NA19060.hp1 NA19074.hp2 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0027 a0030 a0038	a0001c0002 a0001c0006 a0001c0007 others(18): Show a0001c0002 a0001c0006 a0001c0007 a0001c0045 a0001c0046 a0001c0059 a0001c0090 a0001c0109 a0002c0032 a0002c0035 a0002c0053 a0002c0074 a0003c0014 a0005c0064 a0006c0116 a0007c0029 a0009c0113 a0013c0027 a0027c0023 a0030c0052 a0038c0066	a0001c0002t0028 a0001c0006t0002 a0001c0007t0001 others(18): Show a0001c0002t0028 a0001c0006t0002 a0001c0007t0001 a0001c0045t0012 a0001c0046t0073 a0001c0059t0001 a0001c0090t0001 a0001c0109t0038 a0002c0032t0050 a0002c0035t0047 a0002c0053t0022 a0002c0074t0041 a0003c0014t0055 a0005c0064t0051 a0006c0116t0004 a0007c0029t0011 a0009c0113t0011 a0013c0027t0003 a0027c0023t0001 a0030c0052t0049 a0038c0066t0010	a0001c0002t0028g0005 a0001c0006t0002g0109 a0001c0007t0001g0035 others(18): Show a0001c0002t0028g0005 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0059t0001g0036 a0001c0090t0001g0027 a0001c0109t0038g0013 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0053t0022g0041 a0002c0074t0041g0031 a0003c0014t0055g0056 a0005c0064t0051g0078 a0006c0116t0004g0039 a0007c0029t0011g0054 a0009c0113t0011g0043 a0013c0027t0003g0099 a0027c0023t0001g0052 a0030c0052t0049g0098 a0038c0066t0010g0032	21	126	0.1667	-10	c.562 others(29): Show c.5621-1374_5621-1365delCACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0082 a0008c0008t0082	a0008c0008t0082g0126 a0008c0008t0082g0126	1	126	0.0079	-10	c.562 others(29): Show c.5621-1637_5621-1628delACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3194408	CTATTTTA others(3): Show CTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01074.hp2 others(20): Show HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01261.hp1 HG02074.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG04204.hp1 NA18906.hp2 NA18971.hp2 NA18979.hp1 NA19030.hp2 NA19060.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012 a0020 a0023 a0032 a0034	a0001c0020 a0001c0025 a0001c0073 others(20): Show a0001c0020 a0001c0025 a0001c0073 a0001c0079 a0001c0108 a0001c0115 a0002c0015 a0002c0031 a0002c0036 a0002c0037 a0002c0048 a0002c0051 a0003c0014 a0003c0058 a0004c0056 a0007c0029 a0008c0067 a0011c0110 a0012c0104 a0020c0024 a0023c0095 a0032c0011 a0034c0055	a0001c0020t0016 a0001c0025t0003 a0001c0073t0007 others(20): Show a0001c0020t0016 a0001c0025t0003 a0001c0073t0007 a0001c0079t0072 a0001c0108t0054 a0001c0115t0042 a0002c0015t0021 a0002c0031t0015 a0002c0036t0029 a0002c0037t0009 a0002c0048t0013 a0002c0051t0006 a0003c0014t0055 a0003c0058t0057 a0004c0056t0062 a0007c0029t0011 a0008c0067t0059 a0011c0110t0074 a0012c0104t0071 a0020c0024t0077 a0023c0095t0002 a0032c0011t0065 a0034c0055t0034	a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0073t0007g0108 others(20): Show a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0108t0054g0074 a0001c0115t0042g0055 a0002c0015t0021g0008 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0051t0006g0081 a0003c0014t0055g0056 a0003c0058t0057g0117 a0004c0056t0062g0072 a0007c0029t0011g0054 a0008c0067t0059g0079 a0011c0110t0074g0082 a0012c0104t0071g0058 a0020c0024t0077g0104 a0023c0095t0002g0124 a0032c0011t0065g0101 a0034c0055t0034g0047	23	126	0.1825	-10	c.519 others(29): Show c.5195-4303_5195-4294delAAATAAAATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	33/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262184	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0006 a0002c0060t0006	a0002c0060t0006g0094 a0002c0060t0006g0094	1	126	0.0079	-10	c.415 others(31): Show c.4153+21950_4153+21959delATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3333372	GAAAACAC others(3): Show GAAAACACTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01074.hp1 others(43): Show HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18982.hp2 NA18984.hp1 NA19043.hp1 NA19043.hp2 NA19090.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0016 a0017 a0018 a0019 a0020 a0021 a0029 a0030 a0031 a0032	a0001c0001 a0001c0002 a0001c0004 others(42): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0020 a0001c0039 a0001c0043 a0001c0046 a0001c0047 a0001c0050 a0001c0059 a0001c0068 a0001c0093 a0001c0102 a0001c0108 a0001c0114 a0002c0015 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0053 a0002c0054 a0002c0060 a0002c0074 a0002c0078 a0003c0014 a0003c0034 a0003c0058 a0005c0064 a0005c0065 a0007c0029 a0008c0008 a0009c0113 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0020c0024 a0021c0016 a0029c0028 a0030c0052 a0031c0069 a0032c0011	a0001c0001t0002 a0001c0002t0028 a0001c0004t0020 others(43): Show a0001c0001t0002 a0001c0002t0028 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0017t0005 a0001c0020t0016 a0001c0039t0066 a0001c0043t0031 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0059t0001 a0001c0068t0015 a0001c0093t0009 a0001c0102t0005 a0001c0108t0054 a0001c0114t0003 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0074t0041 a0002c0078t0044 a0003c0014t0055 a0003c0034t0030 a0003c0058t0057 a0005c0064t0051 a0005c0065t0023 a0007c0029t0011 a0008c0008t0082 a0009c0113t0011 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0029c0028t0024 a0030c0052t0049 a0031c0069t0043 a0032c0011t0065	a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0004t0020g0086 others(43): Show a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0017t0005g0003 a0001c0020t0016g0065 a0001c0039t0066g0080 a0001c0043t0031g0044 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0093t0009g0007 a0001c0102t0005g0034 a0001c0108t0054g0074 a0001c0114t0003g0119 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0074t0041g0031 a0002c0078t0044g0064 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0058t0057g0117 a0005c0064t0051g0078 a0005c0065t0023g0050 a0007c0029t0011g0054 a0008c0008t0082g0126 a0009c0113t0011g0043 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0029c0028t0024g0040 a0030c0052t0049g0098 a0031c0069t0043g0100 a0032c0011t0065g0101	46	126	0.3651	-10	c.363 others(29): Show c.3631+9912_3631+9921delAAAGTGTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3350082	TACCTATA others(3): Show TACCTATAATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02886.hp2 others(4): Show HG01243.hp1 HG02647.hp1 HG02886.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 NA18522.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0027	a0001c0020 a0002c0015 a0002c0060 others(4): Show a0001c0020 a0002c0015 a0002c0060 a0002c0078 a0003c0058 a0005c0064 a0027c0023	a0001c0020t0016 a0002c0015t0021 a0002c0060t0006 others(4): Show a0001c0020t0016 a0002c0015t0021 a0002c0060t0006 a0002c0078t0044 a0003c0058t0057 a0005c0064t0051 a0027c0023t0001	a0001c0020t0016g0065 a0002c0015t0021g0008 a0002c0060t0006g0094 others(4): Show a0001c0020t0016g0065 a0002c0015t0021g0008 a0002c0060t0006g0094 a0002c0078t0044g0064 a0003c0058t0057g0117 a0005c0064t0051g0078 a0027c0023t0001g0052	7	126	0.0556	-10	c.330 others(29): Show c.3305-1931_3305-1922delTATTATAGGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3388896	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0035 a0035	a0035c0098 a0035c0098	a0035c0098t0025 a0035c0098t0025	a0035c0098t0025g0019 a0035c0098t0025g0019	1	126	0.0079	-10	c.259 others(29): Show c.2594-1224_2594-1215delGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439144	AAAAAAAA others(3): Show AAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0070 a0014c0010t0070	a0014c0010t0070g0084 a0014c0010t0070g0084	1	126	0.0079	-10	c.156 others(31): Show c.1562-29549_1562-29540delGGTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439147	AAAAAACC others(3): Show AAAAAACCAAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0001 a0002c0077t0001	a0002c0077t0001g0016 a0002c0077t0001g0016	1	126	0.0079	-10	c.156 others(31): Show c.1562-29552_1562-29543delCTTGGTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439303	ATATATAT others(3): Show ATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0062 a0015c0062	a0015c0062t0056 a0015c0062t0056	a0015c0062t0056g0062 a0015c0062t0056g0062	1	126	0.0079	-10	c.156 others(31): Show c.1561+29399_1561+29408delAAAATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3485762	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00735.hp2 others(44): Show HG00438.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG02056.hp1 HG02129.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18971.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19060.hp2 NA19074.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0014 a0016 a0017 a0018 a0019 a0021 a0023 a0026 a0031 a0032 a0034 a0039	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0021 a0001c0033 a0001c0049 a0001c0059 a0001c0061 a0001c0068 a0001c0073 a0001c0094 a0001c0102 a0001c0103 a0001c0109 a0001c0114 a0001c0115 a0002c0035 a0002c0037 a0002c0041 a0002c0048 a0002c0053 a0002c0072 a0002c0076 a0003c0057 a0004c0056 a0005c0064 a0005c0065 a0005c0107 a0007c0029 a0007c0088 a0014c0010 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0021c0016 a0023c0095 a0026c0082 a0031c0069 a0032c0011 a0034c0055 a0039c0009	a0001c0001t0002 a0001c0002t0002 a0001c0003t0008 others(43): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0005t0002 a0001c0006t0060 a0001c0021t0005 a0001c0033t0003 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0073t0007 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0109t0038 a0001c0114t0003 a0001c0115t0042 a0002c0035t0047 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0053t0022 a0002c0072t0003 a0002c0076t0035 a0003c0057t0080 a0004c0056t0062 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0007c0029t0011 a0007c0088t0076 a0014c0010t0070 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0021c0016t0048 a0023c0095t0002 a0026c0082t0052 a0031c0069t0043 a0032c0011t0065 a0034c0055t0034 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0002t0002g0083 others(44): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0021t0005g0012 a0001c0033t0003g0059 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0073t0007g0108 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0109t0038g0013 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0053t0022g0041 a0002c0072t0003g0066 a0002c0076t0035g0014 a0003c0057t0080g0075 a0004c0056t0062g0072 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0007c0029t0011g0054 a0007c0088t0076g0057 a0014c0010t0070g0084 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0021c0016t0048g0106 a0023c0095t0002g0124 a0026c0082t0052g0097 a0031c0069t0043g0100 a0032c0011t0065g0101 a0034c0055t0034g0047 a0039c0009t0001g0002	47	126	0.3730	-10	c.144 others(29): Show c.1448+7851_1448+7860delATTTTATTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3511762	AATAACAT others(3): Show AATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01243.hp1 others(14): Show HG01074.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0007 a0009 a0010 a0013 a0014 a0016 a0026 a0032 a0037	a0001c0003 a0001c0007 a0001c0033 others(14): Show a0001c0003 a0001c0007 a0001c0033 a0001c0049 a0001c0115 a0002c0053 a0005c0064 a0007c0029 a0007c0088 a0009c0113 a0010c0112 a0013c0027 a0014c0010 a0016c0063 a0026c0082 a0032c0011 a0037c0101	a0001c0003t0008 a0001c0007t0032 a0001c0033t0003 others(14): Show a0001c0003t0008 a0001c0007t0032 a0001c0033t0003 a0001c0049t0002 a0001c0115t0042 a0002c0053t0022 a0005c0064t0051 a0007c0029t0011 a0007c0088t0076 a0009c0113t0011 a0010c0112t0081 a0013c0027t0003 a0014c0010t0070 a0016c0063t0010 a0026c0082t0052 a0032c0011t0065 a0037c0101t0008	a0001c0003t0008g0053 a0001c0007t0032g0033 a0001c0033t0003g0059 others(14): Show a0001c0003t0008g0053 a0001c0007t0032g0033 a0001c0033t0003g0059 a0001c0049t0002g0071 a0001c0115t0042g0055 a0002c0053t0022g0041 a0005c0064t0051g0078 a0007c0029t0011g0054 a0007c0088t0076g0057 a0009c0113t0011g0043 a0010c0112t0081g0090 a0013c0027t0003g0099 a0014c0010t0070g0084 a0016c0063t0010g0045 a0026c0082t0052g0097 a0032c0011t0065g0101 a0037c0101t0008g0023	17	126	0.1349	-10	c.134 others(31): Show c.1345-18046_1345-18037delGTTATGTTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3523006	TACACACA others(3): Show TACACACACCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18522.hp1 HG03209.hp1 NA18522.hp1	a0001 a0027 a0001 a0027	a0001c0020 a0027c0023 a0001c0020 a0027c0023	a0001c0020t0016 a0027c0023t0001 a0001c0020t0016 a0027c0023t0001	a0001c0020t0016g0065 a0027c0023t0001g0052 a0001c0020t0016g0065 a0027c0023t0001g0052	2	126	0.0159	-10	c.134 others(31): Show c.1345-29290_1345-29281delGGGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3524051	GTGCACAC others(3): Show GTGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0037 a0037	a0037c0101 a0037c0101	a0037c0101t0008 a0037c0101t0008	a0037c0101t0008g0023 a0037c0101t0008g0023	1	126	0.0079	-10	c.134 others(31): Show c.1345-30335_1345-30326delTGTGTGTGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3551592	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG03195.hp2 others(1): Show HG02451.hp1 HG03130.hp1 HG03195.hp2 HG03579.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0026 a0002c0051 a0006c0116 others(1): Show a0001c0026 a0002c0051 a0006c0116 a0013c0027	a0001c0026t0006 a0002c0051t0006 a0006c0116t0004 others(1): Show a0001c0026t0006 a0002c0051t0006 a0006c0116t0004 a0013c0027t0003	a0001c0026t0006g0093 a0002c0051t0006g0081 a0006c0116t0004g0039 others(1): Show a0001c0026t0006g0093 a0002c0051t0006g0081 a0006c0116t0004g0039 a0013c0027t0003g0099	4	126	0.0318	-10	c.134 others(31): Show c.1344+23343_1344+23352delAAAAAATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3565131	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0025 a0025	a0025c0096 a0025c0096	a0025c0096t0067 a0025c0096t0067	a0025c0096t0067g0116 a0025c0096t0067g0116	1	126	0.0079	-10	c.134 others(29): Show c.1344+9804_1344+9813delTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671550	TATATATG others(3): Show TATATATGATC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG02723.hp2 HG00735.hp1 HG01071.hp1 HG02723.hp2	a0002 a0005 a0021 a0002 a0005 a0021	a0002c0041 a0005c0065 a0021c0016 a0002c0041 a0005c0065 a0021c0016	a0002c0041t0027 a0005c0065t0023 a0021c0016t0048 a0002c0041t0027 a0005c0065t0023 a0021c0016t0048	a0002c0041t0027g0018 a0005c0065t0023g0050 a0021c0016t0048g0106 a0002c0041t0027g0018 a0005c0065t0023g0050 a0021c0016t0048g0106	3	126	0.0238	-10	c.100 others(31): Show c.1009+36854_1009+36863delGATCATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3692494	TGCACTGG others(3): Show TGCACTGGCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02280.hp1 others(7): Show HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0002 a0001c0025 a0001c0033 others(7): Show a0001c0002 a0001c0025 a0001c0033 a0001c0045 a0001c0046 a0002c0015 a0002c0022 a0002c0053 a0003c0014 a0031c0069	a0001c0002t0028 a0001c0025t0003 a0001c0033t0003 others(7): Show a0001c0002t0028 a0001c0025t0003 a0001c0033t0003 a0001c0045t0012 a0001c0046t0073 a0002c0015t0021 a0002c0022t0036 a0002c0053t0022 a0003c0014t0055 a0031c0069t0043	a0001c0002t0028g0005 a0001c0025t0003g0077 a0001c0033t0003g0059 others(7): Show a0001c0002t0028g0005 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0045t0012g0010 a0001c0046t0073g0091 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0053t0022g0041 a0003c0014t0055g0056 a0031c0069t0043g0100	10	126	0.0794	-10	c.100 others(31): Show c.1009+15910_1009+15919delGCGCCAGTGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar

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