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
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(5): Show ATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0136 a0003c0017t0003g0136	1	274	0.0037	12	c.475 others(31): Show c.4754-2921_4754-2920insATATATTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATTT others(5): Show ATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0003 a0013c0037t0003	a0013c0037t0003g0138 a0013c0037t0003g0138	1	274	0.0037	12	c.475 others(31): Show c.4754-2921_4754-2920insATATTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461147	C C	CCTCCCCT others(5): Show CCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01258.hp1 HG01952.hp2 others(12): Show HG01255.hp2 HG01258.hp1 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02738.hp1 HG02895.hp1 HG03098.hp2 HG03490.hp2 NA18964.hp2 NA19012.hp2 NA19063.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0017 a0001c0003 a0002c0002 a0003c0017	a0001c0003t0003 a0001c0003t0009 a0002c0002t0003 others(1): Show a0001c0003t0003 a0001c0003t0009 a0002c0002t0003 a0003c0017t0003	a0001c0003t0003g0023 a0001c0003t0003g0032 a0001c0003t0003g0033 others(12): Show a0001c0003t0003g0023 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0133 a0001c0003t0009g0031 a0002c0002t0003g0014 a0002c0002t0003g0163 a0002c0002t0003g0164 a0003c0017t0003g0136	15	274	0.0547	12	c.475 others(31): Show c.4754-2010_4754-1999dupCTCCCCTCCCCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461173	T T	TCCCCTCC others(5): Show TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG04228.hp1 HG01346.hp2 HG01358.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0218	3	274	0.0110	12	c.475 others(31): Show c.4754-2010_4754-2009insCCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(5): Show TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01074.hp1 others(32): Show HG00140.hp1 HG00735.hp2 HG01074.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02738.hp2 HG02897.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG04199.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18973.hp2 NA18983.hp1 NA19000.hp1 NA19062.hp1 NA19065.hp1 NA21309.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0011 a0001c0015 others(4): Show a0001c0001 a0001c0011 a0001c0015 a0001c0018 a0001c0031 a0002c0035 a0015c0045	a0001c0001t0001 a0001c0011t0001 a0001c0015t0001 others(4): Show a0001c0001t0001 a0001c0011t0001 a0001c0015t0001 a0001c0018t0005 a0001c0031t0005 a0002c0035t0001 a0015c0045t0001	a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0103 others(32): Show a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0011t0001g0208 a0001c0011t0001g0261 a0001c0015t0001g0105 a0001c0018t0005g0183 a0001c0018t0005g0184 a0001c0031t0005g0182 a0002c0035t0001g0222 a0015c0045t0001g0274	35	274	0.1277	12	c.475 others(31): Show c.4754-1999_4754-1998insCCCCCCTCCCCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461343	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp1 HG01109.hp1 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0013 a0007c0047 a0001c0013 a0007c0047	a0001c0013t0003 a0007c0047t0008 a0001c0013t0003 a0007c0047t0008	a0001c0013t0003g0154 a0007c0047t0008g0151 a0001c0013t0003g0154 a0007c0047t0008g0151	2	274	0.0073	12	c.475 others(31): Show c.4754-1822_4754-1811dupGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	274	0.0037	12	c.740 others(29): Show c.7409-673_7409-662dupTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01943.hp2 HG01243.hp1 HG01261.hp2 HG01943.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0020 a0001c0006 a0005c0020	a0001c0006t0003 a0005c0020t0003 a0001c0006t0003 a0005c0020t0003	a0001c0006t0003g0006 a0001c0006t0003g0007 a0005c0020t0003g0001 a0001c0006t0003g0006 a0001c0006t0003g0007 a0005c0020t0003g0001	3	274	0.0110	12	c.949 others(29): Show c.9499+830_9499+841dupGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01069.hp2 others(47): Show HG00423.hp1 HG00639.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp2 HG03239.hp2 HG03704.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18979.hp1 NA18999.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19066.hp1 NA19074.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0010	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0015 a0001c0021 a0001c0025 a0002c0002 a0002c0041 a0003c0017 a0006c0026 a0008c0029 a0010c0042	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(16): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0003 a0001c0010t0002 a0001c0012t0003 a0001c0015t0001 a0001c0021t0002 a0001c0025t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0041t0002 a0003c0017t0003 a0006c0026t0001 a0008c0029t0002 a0010c0042t0002	a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0198 others(47): Show a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0003t0002g0130 a0001c0003t0003g0139 a0001c0005t0001g0207 a0001c0005t0001g0221 a0001c0005t0001g0223 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0235 a0001c0005t0001g0270 a0001c0005t0002g0099 a0001c0006t0003g0007 a0001c0006t0003g0008 a0001c0010t0002g0052 a0001c0010t0002g0140 a0001c0012t0003g0115 a0001c0012t0003g0116 a0001c0015t0001g0105 a0001c0015t0001g0191 a0001c0021t0002g0178 a0001c0025t0002g0175 a0002c0002t0001g0093 a0002c0002t0002g0047 a0002c0002t0002g0053 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0092 a0002c0002t0002g0112 a0002c0002t0002g0122 a0002c0002t0002g0201 a0002c0002t0003g0150 a0002c0041t0002g0061 a0003c0017t0003g0123 a0006c0026t0001g0188 a0008c0029t0002g0181 a0010c0042t0002g0084	50	274	0.1825	12	c.122 others(31): Show c.12291+609_12291+620dupTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02717.hp1 HG01261.hp1 HG01433.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0023 a0001c0001 a0001c0021 a0001c0023	a0001c0001t0001 a0001c0021t0002 a0001c0023t0001 a0001c0001t0001 a0001c0021t0002 a0001c0023t0001	a0001c0001t0001g0204 a0001c0021t0002g0176 a0001c0023t0001g0011 a0001c0001t0001g0204 a0001c0021t0002g0176 a0001c0023t0001g0011	3	274	0.0110	12	c.131 others(33): Show c.13144+3742_13144+3753dupAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32609285	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02040.hp1 NA18944.hp1 HG01109.hp2 HG02040.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0039 a0002c0002 a0002c0039	a0002c0002t0002 a0002c0039t0002 a0002c0002t0002 a0002c0039t0002	a0002c0002t0002g0039 a0002c0002t0002g0114 a0002c0039t0002g0091 a0002c0002t0002g0039 a0002c0002t0002g0114 a0002c0039t0002g0091	3	274	0.0110	12	c.142 others(33): Show c.14259+1658_14259+1669dupGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0004 a0001c0006t0003g0004	1	274	0.0037	12	c.142 others(31): Show c.14260-329_14260-328insTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLCAP_chr20_37512417_37532876	37513936	T T	TTGGAAAA others(5): Show TTGGAAAAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	12	c.49 others(23): Show c.4963_*4974dupGGCTCTTTTCCA	BLCAP	ENSG00000166619.15	transcript	ENST00000373537.7	protein_coding		3480		chr20	TogoVar
BLK_chr8_11489387_11569599	11512654	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03098.hp2 NA19002.hp2 others(1): Show HG00438.hp2 HG03098.hp2 NA19002.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0006 a0001c0001t0001 a0001c0001t0004 a0001c0004t0006	a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0004g0086 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0004g0086 a0001c0004t0006g0197	4	308	0.0130	12	c.-2+ others(29): Show c.-2+18080_-2+18091dupTTTGTTTGTTTG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11533582	C C	CGGAGGAG others(5): Show CGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp2 others(1): Show HG01256.hp1 HG01258.hp2 HG01358.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005	a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0003g0284 others(1): Show a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0003g0284 a0001c0002t0005g0279	4	308	0.0130	12	c.-1- others(27): Show c.-1-9631_-1-9620dupGAGGAGGAGGAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11535261	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00735.hp2 others(23): Show HG00408.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG02083.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp1 HG02965.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 NA18946.hp1 NA19011.hp1 NA19043.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0006t0005 a0001c0014t0004 a0001c0018t0001	a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 others(20): Show a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0003g0002 a0001c0001t0003g0276 a0001c0001t0009g0081 a0001c0002t0003g0262 a0001c0002t0003g0282 a0001c0002t0004g0102 a0001c0002t0005g0285 a0001c0002t0006g0234 a0001c0002t0007g0027 a0001c0002t0008g0011 a0001c0002t0008g0233 a0001c0003t0004g0248 a0001c0003t0006g0115 a0001c0003t0006g0230 a0001c0003t0007g0019 a0001c0006t0005g0097 a0001c0014t0004g0095 a0001c0018t0001g0190	26	308	0.0844	12	c.-1- others(27): Show c.-1-7910_-1-7899dupAAGAAAGAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11560274	G G	GATGGATG others(5): Show GATGGATGGATCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02976.hp2 others(6): Show HG01891.hp2 HG02486.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0005 a0005c0013 a0001c0004 a0001c0005 a0005c0013	a0001c0004t0009 a0001c0005t0009 a0001c0005t0010 others(1): Show a0001c0004t0009 a0001c0005t0009 a0001c0005t0010 a0005c0013t0010	a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 others(5): Show a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 a0001c0005t0009g0243 a0001c0005t0009g0244 a0001c0005t0010g0005 a0001c0005t0010g0117 a0005c0013t0010g0118	9	308	0.0292	12	c.103 others(31): Show c.1030-1017_1030-1006dupCCATGGATGGAT	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLMH_chr17_30243203_30296944	30291954	T T	TCGGCGGC others(5): Show TCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18522.hp2 HG02129.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0021 a0002c0002t0001g0054 a0001c0001t0001g0021 a0002c0002t0001g0054	2	298	0.0067	12	c.-14 others(21): Show c.-147_-136dupCCGCCGCCGCCG	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding		11		chr17	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG06807.hp1 NA18953.hp1 others(4): Show HG00597.hp2 HG06807.hp1 NA18953.hp1 NA18977.hp1 NA19064.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0026 others(3): Show a0001c0001 a0001c0002 a0001c0026 a0002c0005 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0026t0002 a0002c0005t0002 a0003c0003t0003 a0004c0006t0002	a0001c0001t0001g0032 a0001c0001t0002g0033 a0001c0002t0001g0243 others(4): Show a0001c0001t0001g0032 a0001c0001t0002g0033 a0001c0002t0001g0243 a0001c0026t0002g0210 a0002c0005t0002g0227 a0003c0003t0003g0211 a0004c0006t0002g0031	7	280	0.0250	12	c.-4- others(29): Show c.-4-12128_-4-12117dupATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90784351	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG03098.hp2 HG02572.hp2 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0002 a0001c0011t0011 a0001c0001t0001 a0001c0011t0002 a0001c0011t0011	a0001c0001t0001g0274 a0001c0011t0002g0044 a0001c0011t0011g0023 a0001c0001t0001g0274 a0001c0011t0002g0044 a0001c0011t0011g0023	3	280	0.0107	12	c.266 others(29): Show c.2663-570_2663-569insTTTTTTTTTTTG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	13/21			chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	G G	GTTTTTTT others(5): Show GTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0269 a0006c0013t0001g0269	1	280	0.0036	12	c.282 others(29): Show c.2824-652_2824-651insGTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96229654	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02738.hp2 others(9): Show HG02109.hp2 HG02572.hp2 HG02738.hp2 HG03041.hp2 HG03209.hp1 HG04199.hp2 HG04204.hp2 NA18959.hp2 NA18962.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0003t0047 a0001c0004t0040 a0001c0004t0045 a0002c0010t0015	a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0001t0001g0197 others(9): Show a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0007g0045 a0001c0001t0007g0166 a0001c0001t0010g0196 a0001c0002t0001g0276 a0001c0003t0047g0306 a0001c0004t0040g0049 a0001c0004t0045g0305 a0002c0010t0015g0169	12	322	0.0373	12	c.204 others(29): Show c.204+1128_204+1139dupCACACACACACA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16			chr10	TogoVar
BLNK_chr10_96184171_96276569	96265119	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG02273.hp2 others(7): Show HG00558.hp1 HG00621.hp1 HG02273.hp2 HG02559.hp2 HG02615.hp1 HG02896.hp1 HG03540.hp1 HG03579.hp2 NA19043.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0022 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0022 a0001c0002t0002 a0001c0002t0015 a0001c0002t0021 a0001c0003t0013	a0001c0001t0001g0070 a0001c0001t0001g0274 a0001c0001t0001g0285 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0007g0069 a0001c0001t0022g0311 a0001c0002t0002g0068 a0001c0002t0002g0124 a0001c0002t0015g0304 a0001c0002t0021g0310 a0001c0003t0013g0012	10	322	0.0311	12	c.47+ others(27): Show c.47+6221_47+6232dupATAAATAAATAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	1/16			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276292	G G	GTCTCCCT others(5): Show GTCTCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	378	0.0027	12	c.398 others(27): Show c.398-811_398-800dupTGGAGAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276442	C C	CCCTCTCC others(5): Show CCCTCTCCCGTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp2 HG02572.hp2 others(2): Show HG01496.hp1 HG02280.hp2 HG02572.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0233 a0002c0002t0003g0239 a0002c0002t0003g0245 others(2): Show a0002c0002t0003g0233 a0002c0002t0003g0239 a0002c0002t0003g0245 a0002c0002t0003g0247 a0002c0002t0003g0249	5	378	0.0132	12	c.398 others(27): Show c.398-950_398-949insAGACGGGAGAGG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01070.hp2 others(8): Show HG00099.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp2 HG01433.hp2 HG01975.hp1 HG03139.hp2 NA18954.hp1 NA18969.hp1 NA18974.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0016 a0001c0001t0001 a0002c0002t0003 a0002c0002t0016	a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0230 a0002c0002t0016g0229	11	378	0.0291	12	c.173 others(27): Show c.173-670_173-659dupGTGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	426	0.0024	12	c.34 others(21): Show c.343_*354dupTTTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	355	INFO_REALIGN_3_PRIME	chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45184903	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01261.hp2 HG01496.hp1 others(1): Show HG00735.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0001t0009 a0001c0001t0010 a0001c0001t0024	a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0024g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0024g0001	4	426	0.0094	12	c.49 others(23): Show c.4998_*4999insAAAAAAAAAAAA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		3104		chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8017385	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18971.hp2 HG03209.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0233 a0001c0001t0003g0142 a0001c0001t0003g0233	2	364	0.0055	12	c.385 others(29): Show c.385-1569_385-1558dupGTGTGTGTGTGT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(113): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0084 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0004g0011 a0001c0001t0004g0152 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0009g0122 a0001c0001t0010g0173 a0001c0001t0012g0168 a0001c0001t0014g0042 a0001c0001t0015g0258 a0003c0003t0001g0097	116	364	0.3187	12	c.326 others(29): Show c.326-4452_326-4441dupTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTCTTT others(5): Show CTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(110): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0256 a0001c0001t0002g0274 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0010g0173 a0001c0001t0011g0176 a0001c0001t0012g0168 a0003c0003t0001g0097	113	364	0.3104	12	c.196 others(27): Show c.196-388_196-387insAAAAAAAAGAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00639.hp1 others(64): Show HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02622.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19074.hp2 NA19082.hp1 NA19086.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 others(54): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0273 a0001c0001t0003g0336 a0001c0001t0016g0148 a0001c0001t0017g0146 a0001c0001t0019g0217	67	364	0.1841	12	c.196 others(27): Show c.196-388_196-387insAAAAAAAAAAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCACAC others(5): Show TCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	364	0.0028	12	c.196 others(29): Show c.196-5893_196-5892insTGTGTGTGTGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCAC others(5): Show TCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0218 a0001c0001t0003g0219	2	364	0.0055	12	c.196 others(29): Show c.196-5893_196-5892insTGTGTGTGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(5): Show TCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	364	0.0028	12	c.196 others(29): Show c.196-5893_196-5892insTGTGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	364	0.0028	12	c.196 others(29): Show c.196-5893_196-5892insTGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122205785	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0001 a0002c0046t0001	a0002c0046t0001g0132 a0002c0046t0001g0132	1	336	0.0030	12	c.149 others(31): Show c.1499-1304_1499-1293dupACACACACACAC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	15/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00735.hp2 others(22): Show HG00423.hp2 HG00621.hp1 HG00735.hp2 HG01074.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01975.hp1 HG02004.hp1 HG02132.hp1 HG02258.hp1 HG02630.hp1 HG02895.hp2 HG03490.hp2 HG03704.hp2 HG03831.hp2 NA18941.hp1 NA18983.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19084.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0024 a0005c0013 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0009t0001 a0001c0024t0001 a0005c0013t0001 a0008c0011t0001	a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0217 others(22): Show a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0217 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0162 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0003t0001g0179 a0001c0003t0001g0200 a0001c0003t0006g0196 a0001c0009t0001g0083 a0001c0024t0001g0163 a0005c0013t0001g0227 a0008c0011t0001g0045	25	336	0.0744	12	c.676 others(29): Show c.6763-588_6763-577dupGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp2 HG02615.hp2 others(2): Show HG00099.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02976.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0010 a0001c0001 a0003c0006 a0004c0010	a0001c0001t0001 a0003c0006t0001 a0004c0010t0001 a0001c0001t0001 a0003c0006t0001 a0004c0010t0001	a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 a0003c0006t0001g0047 a0004c0010t0001g0305	5	336	0.0149	12	c.749 others(29): Show c.7493+107_7493+118dupTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122322605	A A	ATGTCTGG others(5): Show ATGTCTGGCTATC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	336	0.0030	12	c.109 others(33): Show c.10996-1822_10996-1821insTGTCTGGCTATC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87			chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34790599	G G	GATAGGCA others(5): Show GATAGGCATAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	312	0.0032	12	c.-16 others(23): Show c.-1652_-1651insATAGGCATAGGA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding		1483		chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(5): Show TGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03516.hp1 others(1): Show HG03195.hp2 HG03225.hp1 HG03516.hp1 NA19076.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0011 a0003c0003 a0010c0011	a0003c0003t0038 a0010c0011t0022 a0010c0011t0039 a0003c0003t0038 a0010c0011t0022 a0010c0011t0039	a0003c0003t0038g0140 a0010c0011t0022g0158 a0010c0011t0022g0160 others(1): Show a0003c0003t0038g0140 a0010c0011t0022g0158 a0010c0011t0022g0160 a0010c0011t0039g0159	4	312	0.0128	12	c.-12 others(21): Show c.-121_-110dupGGCGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34808346	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18968.hp2 NA18975.hp1 others(2): Show HG00597.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA19091.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0033 a0002c0002 a0013c0033	a0002c0002t0002 a0013c0033t0002 a0002c0002t0002 a0013c0033t0002	a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0089 others(2): Show a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0089 a0002c0002t0002g0097 a0013c0033t0002g0070	5	312	0.0160	12	c.45- others(29): Show c.45-13294_45-13283dupAAAAAAAAAAAA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34847921	C C	CTTTCTTT others(5): Show CTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01099.hp1 others(23): Show HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG02040.hp2 HG02083.hp1 HG02148.hp1 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03710.hp1 HG03834.hp1 NA18942.hp2 NA18952.hp2 NA19000.hp2 NA19043.hp1 NA19063.hp2 NA19076.hp1 NA19087.hp1	a0003 a0005 a0008 others(3): Show a0003 a0005 a0008 a0010 a0011 a0025	a0003c0003 a0005c0005 a0008c0009 others(3): Show a0003c0003 a0005c0005 a0008c0009 a0010c0011 a0011c0013 a0025c0027	a0003c0003t0003 a0003c0003t0009 a0003c0003t0021 others(7): Show a0003c0003t0003 a0003c0003t0009 a0003c0003t0021 a0003c0003t0038 a0005c0005t0007 a0008c0009t0014 a0010c0011t0022 a0010c0011t0039 a0011c0013t0003 a0025c0027t0003	a0003c0003t0003g0102 a0003c0003t0003g0104 a0003c0003t0003g0105 others(23): Show a0003c0003t0003g0102 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0106 a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 a0003c0003t0009g0128 a0003c0003t0009g0136 a0003c0003t0021g0112 a0003c0003t0038g0140 a0005c0005t0007g0124 a0005c0005t0007g0130 a0005c0005t0007g0131 a0005c0005t0007g0137 a0005c0005t0007g0141 a0005c0005t0007g0149 a0008c0009t0014g0167 a0008c0009t0014g0168 a0008c0009t0014g0169 a0008c0009t0014g0170 a0010c0011t0022g0158 a0010c0011t0022g0160 a0010c0011t0039g0159 a0011c0013t0003g0099 a0025c0027t0003g0103	26	312	0.0833	12	c.103 others(31): Show c.1034-7693_1034-7692insCTTTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100098919	C C	CAGATAGA others(5): Show CAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01081.hp2 others(50): Show HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01891.hp2 HG01928.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0007 a0009 a0010 a0013 a0015 a0016 a0017 a0018 a0021	a0001c0001 a0001c0004 a0001c0025 others(12): Show a0001c0001 a0001c0004 a0001c0025 a0002c0003 a0002c0010 a0004c0005 a0007c0008 a0009c0011 a0010c0013 a0013c0024 a0015c0023 a0016c0022 a0017c0030 a0018c0014 a0021c0026	a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 a0002c0003t0001 a0002c0010t0001 a0004c0005t0001 a0007c0008t0001 a0009c0011t0001 a0010c0013t0001 a0013c0024t0001 a0015c0023t0002 a0016c0022t0001 a0017c0030t0001 a0018c0014t0001 a0021c0026t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(50): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0047 a0001c0025t0001g0092 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0032 a0002c0010t0001g0023 a0002c0010t0001g0024 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0009c0011t0001g0004 a0009c0011t0001g0005 a0010c0013t0001g0001 a0010c0013t0001g0003 a0013c0024t0001g0187 a0015c0023t0002g0177 a0016c0022t0001g0016 a0017c0030t0001g0002 a0018c0014t0001g0104 a0021c0026t0001g0013	53	188	0.2819	12	c.339 others(27): Show c.339-390_339-379dupATCTATCTATCT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100098925	G G	GATAGATA others(5): Show GATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	188	0.0053	12	c.339 others(27): Show c.339-385_339-384insGTATCTATCTAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	4/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(5): Show TTATATATATACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18942.hp2 HG00544.hp1 NA18942.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0028 a0001c0001 a0012c0028	a0001c0001t0001 a0012c0028t0001 a0001c0001t0001 a0012c0028t0001	a0001c0001t0001g0088 a0012c0028t0001g0087 a0001c0001t0001g0088 a0012c0028t0001g0087	2	188	0.0106	12	c.45- others(29): Show c.45-16389_45-16388insTGTATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01952.hp2 HG02004.hp2 others(6): Show HG01256.hp1 HG01952.hp2 HG02004.hp2 HG02135.hp1 HG02559.hp1 HG06807.hp2 NA18942.hp1 NA19000.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0169 a0003c0002t0001g0034	9	188	0.0479	12	c.45- others(29): Show c.45-16400_45-16389dupTATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130921	A A	AATACATA others(5): Show AATACATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0001 a0010c0013t0001g0003 a0010c0013t0001g0001 a0010c0013t0001g0003	2	188	0.0106	12	c.44+ others(29): Show c.44+11659_44+11670dupGTATGTATGTAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03927.hp1 HG02080.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0112 a0001c0001t0001g0127	2	188	0.0106	12	c.44+ others(29): Show c.44+11598_44+11609dupTCTCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar

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