Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EEPD1_chr7_36148254_36306538	36151852	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02451.hp1 others(5): Show HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03195.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0018 a0001c0004t0011 a0001c0001t0005 a0001c0001t0018 a0001c0004t0011	a0001c0001t0005g0343 a0001c0001t0018g0339 a0001c0001t0018g0344 others(5): Show a0001c0001t0005g0343 a0001c0001t0018g0339 a0001c0001t0018g0344 a0001c0001t0018g0345 a0001c0001t0018g0346 a0001c0004t0011g0340 a0001c0004t0011g0341 a0001c0004t0011g0342	8	346	0.0231	-6	c.-20 others(17): Show c.-2014_-2009delTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36219775	AAGAGAG AAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02886.hp2 others(1): Show HG01192.hp2 HG02451.hp2 HG02886.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0033 a0001c0001t0057 others(1): Show a0001c0001t0002 a0001c0001t0033 a0001c0001t0057 a0002c0003t0061	a0001c0001t0002g0094 a0001c0001t0033g0065 a0001c0001t0057g0174 others(1): Show a0001c0001t0002g0094 a0001c0001t0033g0065 a0001c0001t0057g0174 a0002c0003t0061g0069	4	346	0.0116	-6	c.879 others(25): Show c.879-19183_879-19178delAGAGAG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36273129	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp1 NA19091.hp1 HG01934.hp1 HG02165.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165	3	346	0.0087	-6	c.931 others(23): Show c.931-7959_931-7954delACACAC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105574124	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01168.hp2 others(53): Show HG00438.hp2 HG00639.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18906.hp2 NA18945.hp1 NA18960.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0001c0017 a0001c0018 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0001c0017t0001 a0001c0018t0006 a0001c0020t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 others(36): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0005g0089 a0001c0006t0001g0270 a0001c0008t0001g0051 a0001c0008t0001g0276 a0001c0009t0001g0060 a0001c0009t0001g0308 a0001c0009t0001g0309 a0001c0014t0001g0072 a0001c0014t0001g0074 a0001c0017t0001g0122 a0001c0018t0006g0073 a0001c0020t0001g0075	56	428	0.1308	-6	c.107 others(23): Show c.107-4559_107-4554delTATATA	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105574934	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01884.hp1 others(13): Show HG01074.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0295 others(11): Show a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0295 a0001c0005t0001g0296 a0001c0005t0001g0297 a0001c0005t0001g0298 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0001g0301 a0001c0005t0001g0302 a0001c0005t0001g0303 a0001c0005t0001g0304 a0001c0005t0001g0305 a0001c0005t0001g0306	16	428	0.0374	-6	c.107 others(23): Show c.107-5369_107-5364delTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835102	ATTTGCT ATTTGCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03486.hp2 others(1): Show HG03225.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0002 a0001c0004t0023 a0002c0005t0006 a0001c0002t0002 a0001c0004t0023 a0002c0005t0006	a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0004t0023g0274 others(1): Show a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0004t0023g0274 a0002c0005t0006g0259	4	284	0.0141	-6	c.411 others(25): Show c.411-37784_411-37779delAGCAAA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 NA18947.hp1 others(2): Show HG02559.hp2 HG02622.hp1 NA18947.hp1 NA19004.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0008 a0001c0004t0006	a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0011g0094 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0011g0094 a0001c0003t0008g0020 a0001c0004t0006g0284	5	284	0.0176	-6	c.411 others(25): Show c.411-38267_411-38262delACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89866805	TTTTTTA TTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01168.hp1 others(19): Show HG00323.hp2 HG01081.hp2 HG01168.hp1 HG01256.hp1 HG01433.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03540.hp2 HG03834.hp1 NA18959.hp1 NA18973.hp2 NA18989.hp2 NA19056.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 others(10): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0021 a0001c0003t0037 a0002c0007t0004 a0002c0007t0017	a0001c0001t0003g0088 a0001c0003t0001g0011 a0001c0003t0001g0012 others(19): Show a0001c0001t0003g0088 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0017 a0001c0003t0001g0023 a0001c0003t0002g0002 a0001c0003t0002g0005 a0001c0003t0002g0022 a0001c0003t0003g0014 a0001c0003t0004g0004 a0001c0003t0004g0019 a0001c0003t0008g0020 a0001c0003t0009g0021 a0001c0003t0012g0016 a0001c0003t0016g0009 a0001c0003t0016g0010 a0001c0003t0016g0024 a0001c0003t0021g0007 a0001c0003t0021g0008 a0001c0003t0037g0018 a0002c0007t0004g0261 a0002c0007t0017g0256	22	284	0.0775	-6	c.410 others(25): Show c.410+64730_410+64735delTAAAAA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89898352	CGTTTTT CGTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01109.hp1 others(37): Show HG00408.hp1 HG00735.hp2 HG01109.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02165.hp1 HG02723.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp2 NA19030.hp2 NA19060.hp1 NA19086.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(12): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0019 a0001c0002t0043 a0001c0003t0008 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0005t0006 a0002c0005t0007 a0002c0005t0009 a0002c0005t0029	a0001c0001t0002g0114 a0001c0002t0001g0186 a0001c0002t0001g0194 others(37): Show a0001c0001t0002g0114 a0001c0002t0001g0186 a0001c0002t0001g0194 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0187 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0209 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0216 a0001c0002t0003g0218 a0001c0002t0004g0191 a0001c0002t0004g0193 a0001c0002t0004g0196 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0203 a0001c0002t0004g0219 a0001c0002t0005g0185 a0001c0002t0019g0217 a0001c0002t0019g0221 a0001c0002t0043g0001 a0001c0003t0008g0006 a0002c0005t0002g0250 a0002c0005t0003g0253 a0002c0005t0003g0257 a0002c0005t0004g0249 a0002c0005t0006g0259 a0002c0005t0007g0251 a0002c0005t0007g0252 a0002c0005t0009g0254 a0002c0005t0029g0260	40	284	0.1409	-6	c.410 others(25): Show c.410+33183_410+33188delAAAAAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89917053	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01255.hp1 others(21): Show HG00673.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02148.hp2 HG02922.hp2 HG03017.hp1 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG03834.hp2 NA18952.hp2 NA19043.hp2 NA19060.hp2 NA19083.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041 a0001c0009t0002 a0004c0010t0004	a0001c0001t0001g0120 a0001c0001t0002g0039 a0001c0001t0005g0119 others(21): Show a0001c0001t0001g0120 a0001c0001t0002g0039 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0002t0001g0188 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0243 a0001c0002t0003g0065 a0001c0002t0003g0192 a0001c0002t0003g0210 a0001c0002t0004g0222 a0001c0002t0006g0223 a0001c0002t0006g0224 a0001c0002t0010g0208 a0001c0002t0035g0184 a0001c0002t0040g0118 a0001c0002t0041g0225 a0001c0009t0002g0273 a0004c0010t0004g0040	24	284	0.0845	-6	c.410 others(25): Show c.410+14482_410+14487delACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89917092	GTGTGTA GTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02896.hp2 HG03209.hp2 others(5): Show HG01081.hp2 HG02896.hp2 HG03209.hp2 NA18522.hp2 NA18968.hp2 NA19009.hp1 NA19056.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0002 a0001c0003t0016 a0002c0007t0004	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0007g0234 others(5): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0007g0234 a0001c0001t0008g0239 a0001c0001t0012g0238 a0001c0003t0002g0005 a0001c0003t0016g0010 a0002c0007t0004g0261	8	284	0.0282	-6	c.410 others(25): Show c.410+14443_410+14448delTACACA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89919204	CAGAGAG CAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01168.hp1 others(22): Show HG00323.hp2 HG01081.hp2 HG01168.hp1 HG01256.hp1 HG01433.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp1 NA18959.hp1 NA18973.hp2 NA18989.hp2 NA19056.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(10): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0021 a0001c0003t0025 a0001c0003t0037 a0002c0007t0004 a0002c0007t0017	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0017 others(22): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0017 a0001c0003t0001g0023 a0001c0003t0002g0002 a0001c0003t0002g0005 a0001c0003t0002g0022 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0004g0004 a0001c0003t0004g0019 a0001c0003t0008g0006 a0001c0003t0008g0020 a0001c0003t0009g0021 a0001c0003t0012g0016 a0001c0003t0016g0009 a0001c0003t0016g0010 a0001c0003t0016g0024 a0001c0003t0021g0007 a0001c0003t0021g0008 a0001c0003t0025g0003 a0001c0003t0037g0018 a0002c0007t0004g0261 a0002c0007t0017g0256	25	284	0.0880	-6	c.410 others(25): Show c.410+12331_410+12336delCTCTCT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89932020	ATATTGC ATATTGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00673.hp1 others(91): Show HG00323.hp2 HG00408.hp1 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19089.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0009 others(2): Show a0001c0002 a0001c0003 a0001c0009 a0002c0007 a0005c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(32): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0027 a0001c0002t0031 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0021 a0001c0003t0025 a0001c0003t0037 a0001c0009t0001 a0001c0009t0002 a0001c0009t0014 a0002c0007t0004 a0002c0007t0009 a0002c0007t0017 a0005c0011t0009	a0001c0002t0001g0169 a0001c0002t0001g0186 a0001c0002t0001g0188 others(91): Show a0001c0002t0001g0169 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0194 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0228 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0168 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0243 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0003g0065 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0002t0003g0192 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0216 a0001c0002t0003g0218 a0001c0002t0003g0248 a0001c0002t0004g0191 a0001c0002t0004g0193 a0001c0002t0004g0196 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0203 a0001c0002t0004g0219 a0001c0002t0004g0222 a0001c0002t0005g0185 a0001c0002t0005g0204 a0001c0002t0006g0223 a0001c0002t0006g0224 a0001c0002t0010g0208 a0001c0002t0019g0217 a0001c0002t0019g0221 a0001c0002t0020g0025 a0001c0002t0024g0190 a0001c0002t0027g0170 a0001c0002t0031g0026 a0001c0002t0035g0184 a0001c0002t0040g0118 a0001c0002t0041g0225 a0001c0002t0042g0227 a0001c0002t0043g0001 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0017 a0001c0003t0001g0023 a0001c0003t0002g0002 a0001c0003t0002g0005 a0001c0003t0002g0022 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0004g0004 a0001c0003t0004g0019 a0001c0003t0008g0006 a0001c0003t0008g0020 a0001c0003t0009g0021 a0001c0003t0012g0016 a0001c0003t0016g0009 a0001c0003t0016g0010 a0001c0003t0016g0024 a0001c0003t0021g0007 a0001c0003t0021g0008 a0001c0003t0025g0003 a0001c0003t0037g0018 a0001c0009t0001g0269 a0001c0009t0002g0273 a0001c0009t0014g0270 a0002c0007t0004g0261 a0002c0007t0009g0255 a0002c0007t0017g0256 a0005c0011t0009g0245	94	284	0.3310	-6	c.320 others(21): Show c.320-395_320-390delGCAATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	4/5			chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129400120	CTTTTTT CTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02257.hp2 HG02486.hp1 others(6): Show HG02074.hp2 HG02257.hp2 HG02486.hp1 HG03098.hp1 NA18989.hp1 NA19002.hp1 NA19067.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0007 a0002c0002 a0011c0013 a0001c0007 a0002c0002 a0011c0013	a0001c0007t0001 a0002c0002t0001 a0011c0013t0001 a0001c0007t0001 a0002c0002t0001 a0011c0013t0001	a0001c0007t0001g0237 a0002c0002t0001g0001 a0002c0002t0001g0015 others(5): Show a0001c0007t0001g0237 a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0125 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0141 a0011c0013t0001g0033	9	386	0.0233	-6	c.14 others(17): Show c.1467_*1472delAAAAAA	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding		1200		chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47349759	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(49): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02965.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA20300.hp1	a0003 a0004 a0006 others(3): Show a0003 a0004 a0006 a0008 a0016 a0017	a0003c0004 a0004c0003 a0006c0007 others(3): Show a0003c0004 a0004c0003 a0006c0007 a0008c0011 a0016c0020 a0017c0021	a0003c0004t0001 a0004c0003t0001 a0004c0003t0006 others(5): Show a0003c0004t0001 a0004c0003t0001 a0004c0003t0006 a0006c0007t0001 a0006c0007t0010 a0008c0011t0001 a0016c0020t0001 a0017c0021t0006	a0003c0004t0001g0140 a0004c0003t0001g0001 a0004c0003t0001g0003 others(46): Show a0003c0004t0001g0140 a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0004c0003t0001g0067 a0004c0003t0006g0260 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0006c0007t0010g0061 a0008c0011t0001g0054 a0008c0011t0001g0273 a0016c0020t0001g0346 a0017c0021t0006g0261	52	356	0.1461	-6	c.661 others(23): Show c.661+1829_661+1834delTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351279	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01515.hp1 HG01517.hp2 others(18): Show HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02015.hp1 HG02165.hp2 HG03017.hp1 HG03669.hp1 HG04184.hp1 HG04228.hp2 NA18962.hp1 NA18979.hp1 NA18987.hp2 NA18991.hp1 NA18995.hp2 NA19010.hp2 NA19054.hp2 NA19070.hp2 NA19089.hp2 NA19090.hp1 NA20905.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0018 a0002c0002 a0015c0018	a0002c0002t0001 a0002c0002t0008 a0015c0018t0001 a0002c0002t0001 a0002c0002t0008 a0015c0018t0001	a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0285 others(18): Show a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0285 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0334 a0002c0002t0008g0323 a0015c0018t0001g0337	21	356	0.0590	-6	c.661 others(23): Show c.661+3349_661+3354delTGTGTG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47397008	GTCCCTC GTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01109.hp1 others(36): Show HG00280.hp2 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG03130.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18944.hp2 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18998.hp1 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA20300.hp1	a0004 a0017 a0004 a0017	a0004c0003 a0017c0021 a0004c0003 a0017c0021	a0004c0003t0001 a0004c0003t0006 a0017c0021t0006 a0004c0003t0001 a0004c0003t0006 a0017c0021t0006	a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 others(33): Show a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0004c0003t0001g0067 a0004c0003t0006g0260 a0017c0021t0006g0261	39	356	0.1096	-6	c.194 others(25): Show c.1945+1042_1945+1047delTCTCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47409450	CCAAGTA CCAAGTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG02135.hp2 others(10): Show HG00408.hp1 HG00423.hp2 HG02135.hp2 HG02647.hp2 HG02976.hp2 HG03486.hp1 NA18906.hp1 NA18963.hp1 NA18965.hp2 NA18997.hp1 NA19005.hp2 NA19065.hp1 NA19085.hp1	a0006 a0008 a0006 a0008	a0006c0007 a0008c0011 a0006c0007 a0008c0011	a0006c0007t0001 a0006c0007t0010 a0008c0011t0001 a0006c0007t0001 a0006c0007t0010 a0008c0011t0001	a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 others(10): Show a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0006c0007t0010g0061 a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 a0008c0011t0001g0273	13	356	0.0365	-6	c.223 others(23): Show c.2234-196_2234-191delCAAGTA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	20/24			chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47419913	CCCCTCT CCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18977.hp1 NA18983.hp1 others(2): Show NA18962.hp2 NA18977.hp1 NA18983.hp1 NA19077.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0215 a0001c0001t0002g0240	5	356	0.0140	-6	c.249 others(25): Show c.2494+5018_2494+5023delTCCCTC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47441354	TTGTGTG TTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01109.hp1 others(14): Show HG00099.hp1 HG01106.hp1 HG01109.hp1 HG01433.hp1 HG01517.hp1 HG02015.hp2 HG02523.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03471.hp1 HG03654.hp2 NA18522.hp1 NA18961.hp1 NA19056.hp2 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0008 a0004c0003 a0016c0020	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0009 a0003c0008t0004 a0004c0003t0001 a0016c0020t0001	a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0187 others(14): Show a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0345 a0001c0006t0001g0095 a0002c0002t0001g0307 a0002c0002t0001g0314 a0002c0002t0009g0313 a0003c0008t0004g0005 a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0053 a0004c0003t0001g0022 a0004c0003t0001g0032 a0004c0003t0001g0047 a0016c0020t0001g0346	17	356	0.0478	-6	c.64 others(15): Show c.641_*646delTGTGTG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding		43		chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46679599	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00621.hp2 others(76): Show HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp2 HG01257.hp2 HG01361.hp2 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18950.hp1 NA18952.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp1 NA19067.hp2 NA19068.hp2 NA19078.hp1 NA19083.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0036 a0001c0005t0002 a0003c0003t0002 a0005c0008t0002	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0226 others(58): Show a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0005g0013 a0001c0001t0005g0121 a0001c0001t0006g0012 a0001c0001t0006g0111 a0001c0001t0006g0115 a0001c0001t0007g0014 a0001c0001t0007g0128 a0001c0001t0008g0110 a0001c0001t0010g0027 a0001c0001t0011g0130 a0001c0001t0011g0135 a0001c0001t0012g0017 a0001c0001t0013g0289 a0001c0001t0013g0291 a0001c0001t0014g0036 a0001c0001t0018g0053 a0001c0001t0020g0054 a0001c0001t0023g0120 a0001c0001t0024g0122 a0001c0001t0027g0136 a0001c0001t0036g0278 a0001c0005t0002g0038 a0003c0003t0002g0008 a0005c0008t0002g0049	79	374	0.2112	-6	c.131 others(23): Show c.1313-969_1313-964delAAAAAA	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	10/10			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244979292	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00609.hp1 others(56): Show HG00140.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01081.hp1 HG01255.hp1 HG01433.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02132.hp2 HG02145.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG03017.hp1 HG03669.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19072.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(56): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0007g0242 a0001c0001t0009g0231 a0001c0001t0010g0236 a0001c0002t0002g0117 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0002c0003t0001g0251	59	290	0.2035	-6	c.25+ others(21): Show c.25+8874_25+8879delTTTTTT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244985076	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(119): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(119): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0004g0034 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0055 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0073 a0001c0002t0004g0113	122	290	0.4207	-6	c.25+ others(23): Show c.25+14650_25+14655delTTTTTT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245039300	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00639.hp1 others(50): Show HG00140.hp1 HG00423.hp2 HG00639.hp1 HG00741.hp1 HG01256.hp2 HG01433.hp2 HG01515.hp2 HG01993.hp1 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02523.hp2 HG02630.hp2 HG02723.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp2 NA19030.hp2 NA19065.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0123 a0001c0001t0001g0156 a0001c0001t0001g0163 others(49): Show a0001c0001t0001g0123 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0005g0157 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0006g0001 a0001c0001t0008g0288 a0001c0002t0002g0117 a0001c0002t0002g0159 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0198 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0220 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0004g0055 a0001c0002t0004g0073	53	290	0.1828	-6	c.111 others(25): Show c.111-20058_111-20053delAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245090677	TGTTTAC TGTTTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02895.hp1 HG03130.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0283 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286	5	290	0.0172	-6	c.33 others(17): Show c.3318_*3323delGTTTAC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding		2841		chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62414579	TGTTTTG TGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02129.hp2 HG02135.hp2 others(18): Show HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 NA18612.hp1 NA18956.hp2 NA18963.hp1 NA18967.hp1 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0185	21	368	0.0571	-6	c.990 others(21): Show c.990+726_990+731delGTTTTG	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	9/9			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970663	CACACAT CACACAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 NA19240.hp1 others(1): Show HG03195.hp1 HG03453.hp1 NA19240.hp1 NA21309.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0009 a0004c0004 a0007c0009	a0004c0004t0002 a0007c0009t0002 a0004c0004t0002 a0007c0009t0002	a0004c0004t0002g0099 a0004c0004t0002g0105 a0007c0009t0002g0100 others(1): Show a0004c0004t0002g0099 a0004c0004t0002g0105 a0007c0009t0002g0100 a0007c0009t0002g0101	4	248	0.0161	-6	c.767 others(23): Show c.767+1302_767+1307delTACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG01884.hp1 others(11): Show HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01993.hp1 HG02148.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03540.hp2 NA18963.hp1 NA18998.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0001c0001t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0001g0243 a0002c0002t0002g0022 a0003c0003t0002g0133 a0003c0003t0002g0213 a0003c0003t0002g0214	14	248	0.0565	-6	c.924 others(21): Show c.924+851_924+856delATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096983	TATATAC TATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01070.hp1 others(33): Show HG00280.hp2 HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18964.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19089.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0012 a0006c0008 a0001c0001 a0001c0012 a0006c0008	a0001c0001t0001 a0001c0012t0001 a0006c0008t0002 a0001c0001t0001 a0001c0012t0001 a0006c0008t0002	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 others(33): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0012t0001g0187 a0006c0008t0002g0016	36	248	0.1452	-6	c.432 others(25): Show c.4321+4113_4321+4118delCATATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43524509	CGTGTGT CGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01257.hp2 others(15): Show HG00099.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01515.hp1 HG02602.hp2 HG03017.hp1 HG04228.hp2 NA18943.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18972.hp2 NA19000.hp1 NA19010.hp2 NA19081.hp2 NA19084.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0018	a0001c0001 a0001c0027 a0002c0002 others(4): Show a0001c0001 a0001c0027 a0002c0002 a0003c0003 a0004c0005 a0008c0008 a0018c0044	a0001c0001t0001 a0001c0027t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0027t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0008c0008t0001 a0018c0044t0001	a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0076 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0027t0001g0075 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0003c0003t0001g0225 a0003c0003t0001g0229 a0004c0005t0001g0162 a0004c0005t0001g0252 a0008c0008t0001g0026 a0018c0044t0001g0221	18	290	0.0621	-6	c.43 others(17): Show c.4338_*4343delACACAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding		4268		chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43539155	AAGCCAG AAGCCAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG01243.hp2 others(38): Show HG00323.hp2 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18967.hp1 NA19011.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0017 a0029 a0031 a0032	a0001c0001 a0001c0027 a0002c0002 others(5): Show a0001c0001 a0001c0027 a0002c0002 a0006c0006 a0017c0025 a0029c0031 a0031c0022 a0032c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0027t0001 a0002c0002t0001 a0006c0006t0001 a0017c0025t0002 a0029c0031t0002 a0031c0022t0001 a0032c0042t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(38): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0027t0001g0075 a0002c0002t0001g0123 a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0017c0025t0002g0011 a0029c0031t0002g0012 a0031c0022t0001g0237 a0032c0042t0001g0275	41	290	0.1414	-6	c.387 others(23): Show c.3879+966_3879+971delCTGGCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	28/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43575174	TTTGTTG TTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049	3	290	0.0103	-6	c.342 others(25): Show c.3420+1117_3420+1122delCAACAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(51): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG01074.hp1 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG02074.hp2 HG02155.hp2 HG02293.hp2 HG02451.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03209.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18961.hp1 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0012 a0018 a0019 a0031	a0001c0001 a0001c0013 a0001c0027 others(7): Show a0001c0001 a0001c0013 a0001c0027 a0002c0002 a0002c0021 a0003c0003 a0012c0016 a0018c0044 a0019c0043 a0031c0022	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0001c0027t0001 a0002c0002t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0008 a0012c0016t0001 a0012c0016t0006 a0018c0044t0001 a0019c0043t0001 a0031c0022t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(51): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0027t0001g0075 a0002c0002t0001g0141 a0002c0021t0001g0250 a0003c0003t0001g0023 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0284 a0003c0003t0008g0287 a0012c0016t0001g0274 a0012c0016t0001g0281 a0012c0016t0006g0266 a0018c0044t0001g0221 a0019c0043t0001g0224 a0031c0022t0001g0237	54	290	0.1862	-6	c.303 others(25): Show c.3032+3728_3032+3733delAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43662159	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01496.hp1 others(19): Show HG01243.hp1 HG01433.hp2 HG01496.hp1 HG02055.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA19010.hp1 NA19077.hp1 NA19087.hp2 NA20129.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0007 a0009 a0013 a0020 a0022 a0030	a0001c0001 a0001c0046 a0002c0002 others(9): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0005c0020 a0005c0045 a0007c0007 a0009c0010 a0013c0018 a0020c0048 a0022c0039 a0030c0032	a0001c0001t0001 a0001c0001t0002 a0001c0046t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0046t0001 a0002c0002t0001 a0004c0005t0001 a0005c0020t0001 a0005c0045t0001 a0007c0007t0001 a0009c0010t0001 a0013c0018t0001 a0020c0048t0001 a0022c0039t0001 a0030c0032t0001	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0258 others(19): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0258 a0001c0001t0002g0006 a0001c0046t0001g0067 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0244 a0004c0005t0001g0180 a0005c0020t0001g0161 a0005c0045t0001g0101 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0009c0010t0001g0148 a0013c0018t0001g0090 a0020c0048t0001g0177 a0022c0039t0001g0091 a0030c0032t0001g0126	22	290	0.0759	-6	c.198 others(25): Show c.1983+4939_1983+4944delATTATT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	17/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43678329	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01081.hp1 others(17): Show HG00280.hp1 HG00639.hp2 HG01081.hp1 HG01175.hp1 HG01496.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp1	a0001 a0007 a0012 others(4): Show a0001 a0007 a0012 a0014 a0028 a0030 a0032	a0001c0001 a0001c0013 a0007c0007 others(5): Show a0001c0001 a0001c0013 a0007c0007 a0012c0016 a0014c0017 a0028c0041 a0030c0032 a0032c0042	a0001c0001t0001 a0001c0013t0001 a0007c0007t0001 others(6): Show a0001c0001t0001 a0001c0013t0001 a0007c0007t0001 a0007c0007t0002 a0012c0016t0001 a0014c0017t0001 a0028c0041t0001 a0030c0032t0001 a0032c0042t0001	a0001c0001t0001g0153 a0001c0013t0001g0187 a0001c0013t0001g0188 others(17): Show a0001c0001t0001g0153 a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005 a0012c0016t0001g0281 a0014c0017t0001g0282 a0014c0017t0001g0283 a0028c0041t0001g0189 a0030c0032t0001g0126 a0032c0042t0001g0275	20	290	0.0690	-6	c.125 others(23): Show c.1252-172_1252-167delCACACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	12/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43743572	TGTGCAG TGTGCAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03139.hp2 others(2): Show HG02109.hp1 HG02572.hp1 HG03139.hp2 NA19030.hp2 NA19043.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0005 a0007c0014t0002 a0007c0014t0005	a0007c0014t0002g0015 a0007c0014t0002g0016 a0007c0014t0002g0017 others(2): Show a0007c0014t0002g0015 a0007c0014t0002g0016 a0007c0014t0002g0017 a0007c0014t0002g0018 a0007c0014t0005g0014	5	290	0.0172	-6	c.508 others(23): Show c.508-7585_508-7580delCTGCAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	6/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784509	ATATGTG ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00558.hp1 others(18): Show HG00099.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG02135.hp1 HG04199.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19010.hp1 NA19060.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0020	a0001c0047 a0002c0021 a0004c0005 others(3): Show a0001c0047 a0002c0021 a0004c0005 a0004c0009 a0005c0020 a0020c0048	a0001c0047t0001 a0002c0021t0001 a0004c0005t0001 others(3): Show a0001c0047t0001 a0002c0021t0001 a0004c0005t0001 a0004c0009t0001 a0005c0020t0001 a0020c0048t0001	a0001c0047t0001g0178 a0002c0021t0001g0179 a0004c0005t0001g0021 others(18): Show a0001c0047t0001g0178 a0002c0021t0001g0179 a0004c0005t0001g0021 a0004c0005t0001g0022 a0004c0005t0001g0162 a0004c0005t0001g0165 a0004c0005t0001g0175 a0004c0005t0001g0180 a0004c0005t0001g0248 a0004c0005t0001g0249 a0004c0005t0001g0251 a0004c0005t0001g0252 a0004c0005t0001g0253 a0004c0009t0001g0167 a0004c0009t0001g0168 a0004c0009t0001g0170 a0004c0009t0001g0171 a0004c0009t0001g0176 a0005c0020t0001g0161 a0005c0020t0001g0169 a0020c0048t0001g0177	21	290	0.0724	-6	c.-7- others(21): Show c.-7-2190_-7-2185delCACATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43787352	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00597.hp2 others(33): Show HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01074.hp2 HG01258.hp2 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0001 a0001c0013 a0001c0035 others(3): Show a0001c0001 a0001c0013 a0001c0035 a0008c0008 a0008c0029 a0014c0017	a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 a0001c0035t0001 a0008c0008t0001 a0008c0029t0001 a0014c0017t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(33): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0190 a0001c0001t0007g0238 a0001c0013t0001g0031 a0001c0035t0001g0235 a0008c0008t0001g0033 a0008c0008t0001g0036 a0008c0008t0001g0037 a0008c0008t0001g0038 a0008c0029t0001g0034 a0014c0017t0001g0282 a0014c0017t0001g0283	36	290	0.1241	-6	c.-7- others(21): Show c.-7-5033_-7-5028delTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43789847	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02004.hp2 NA18962.hp2 others(1): Show HG01258.hp2 HG02004.hp2 NA18962.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0013t0001g0031	4	290	0.0138	-6	c.-7- others(21): Show c.-7-7528_-7-7523delTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43795819	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(125): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0015 a0017 a0018 a0019 a0021 a0023 a0024 a0026 a0028 a0029 a0030	a0001c0001 a0001c0013 a0001c0027 others(21): Show a0001c0001 a0001c0013 a0001c0027 a0002c0002 a0002c0019 a0002c0037 a0003c0003 a0004c0012 a0005c0004 a0005c0045 a0007c0014 a0010c0011 a0011c0015 a0015c0024 a0017c0025 a0018c0044 a0019c0043 a0021c0036 a0023c0034 a0024c0033 a0026c0028 a0028c0041 a0029c0031 a0030c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 a0002c0037t0001 a0003c0003t0001 a0003c0003t0008 a0004c0012t0001 a0005c0004t0001 a0005c0045t0001 a0007c0014t0002 a0007c0014t0005 a0010c0011t0001 a0011c0015t0001 a0015c0024t0001 a0017c0025t0002 a0018c0044t0001 a0019c0043t0001 a0021c0036t0001 a0023c0034t0001 a0024c0033t0001 a0026c0028t0003 a0028c0041t0001 a0029c0031t0002 a0030c0032t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(125): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0001c0027t0001g0075 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0019t0001g0124 a0002c0019t0001g0125 a0002c0037t0001g0119 a0003c0003t0001g0023 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0284 a0003c0003t0008g0287 a0004c0012t0001g0019 a0004c0012t0001g0094 a0004c0012t0001g0095 a0004c0012t0001g0097 a0004c0012t0001g0134 a0005c0004t0001g0020 a0005c0004t0001g0093 a0005c0004t0001g0103 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0107 a0005c0004t0001g0108 a0005c0004t0001g0109 a0005c0004t0001g0110 a0005c0004t0001g0127 a0005c0004t0001g0130 a0005c0004t0001g0131 a0005c0004t0001g0132 a0005c0004t0001g0135 a0005c0004t0001g0136 a0005c0004t0001g0137 a0005c0004t0001g0234 a0005c0045t0001g0101 a0007c0014t0002g0015 a0007c0014t0002g0016 a0007c0014t0002g0017 a0007c0014t0002g0018 a0007c0014t0005g0014 a0010c0011t0001g0096 a0010c0011t0001g0098 a0010c0011t0001g0112 a0010c0011t0001g0113 a0010c0011t0001g0114 a0011c0015t0001g0099 a0011c0015t0001g0100 a0011c0015t0001g0102 a0015c0024t0001g0128 a0017c0025t0002g0011 a0018c0044t0001g0221 a0019c0043t0001g0224 a0021c0036t0001g0138 a0023c0034t0001g0082 a0024c0033t0001g0181 a0026c0028t0003g0003 a0028c0041t0001g0189 a0029c0031t0002g0012 a0030c0032t0001g0126	128	290	0.4414	-6	c.-8+ others(23): Show c.-8+13170_-8+13175delGTGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43799329	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01175.hp1 others(2): Show HG00280.hp1 HG01081.hp1 HG01175.hp1 HG02451.hp1 HG03209.hp2	a0001 a0028 a0001 a0028	a0001c0013 a0028c0041 a0001c0013 a0028c0041	a0001c0013t0001 a0028c0041t0001 a0001c0013t0001 a0028c0041t0001	a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 others(2): Show a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0028c0041t0001g0189	5	290	0.0172	-6	c.-8+ others(21): Show c.-8+9660_-8+9665delTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTA TTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02083.hp1 others(13): Show HG00738.hp2 HG01891.hp1 HG02083.hp1 HG02132.hp2 HG02258.hp2 HG02615.hp2 HG02965.hp2 HG03209.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 NA18906.hp1 NA18944.hp1 NA18981.hp2 NA19011.hp1 NA19074.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0002 a0004c0006 others(2): Show a0001c0001 a0001c0002 a0004c0006 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0254 a0001c0002t0001g0017 a0001c0002t0001g0064 others(12): Show a0001c0001t0001g0254 a0001c0002t0001g0017 a0001c0002t0001g0064 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0130 a0001c0002t0001g0140 a0004c0006t0001g0199 a0006c0008t0001g0039 a0007c0010t0001g0261 a0007c0010t0001g0263 a0007c0010t0001g0265	16	374	0.0428	-6	c.149 others(23): Show c.1497+592_1497+597delTTATAT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB7_chr1_63518525_63577693	63571724	CAAAGTT CAAAGTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG06807.hp1 HG02572.hp2 HG02886.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0219 a0003c0005t0001g0220 a0003c0005t0001g0221 a0003c0005t0001g0219 a0003c0005t0001g0220 a0003c0005t0001g0221	3	374	0.0080	-6	c.181 others(23): Show c.1815+602_1815+607delTAAAGT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32941577	CCTTGAA CCTTGAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01346.hp1 others(24): Show HG00741.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03834.hp1 NA18966.hp1 NA18968.hp1 NA19007.hp2 NA19068.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0010 a0012 a0015 a0020 a0023 a0024 a0030 a0049 a0050 a0051	a0001c0001 a0002c0002 a0005c0008 others(10): Show a0001c0001 a0002c0002 a0005c0008 a0010c0009 a0012c0012 a0015c0019 a0020c0032 a0023c0028 a0024c0024 a0030c0063 a0049c0066 a0050c0068 a0051c0067	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 others(13): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0005c0008t0004 a0010c0009t0001 a0010c0009t0004 a0010c0009t0005 a0012c0012t0004 a0015c0019t0005 a0020c0032t0004 a0023c0028t0005 a0024c0024t0005 a0030c0063t0004 a0049c0066t0004 a0050c0068t0004 a0051c0067t0004	a0001c0001t0004g0048 a0001c0001t0005g0255 a0001c0001t0005g0256 others(24): Show a0001c0001t0004g0048 a0001c0001t0005g0255 a0001c0001t0005g0256 a0002c0002t0001g0225 a0002c0002t0001g0261 a0005c0008t0004g0205 a0010c0009t0001g0248 a0010c0009t0004g0120 a0010c0009t0004g0122 a0010c0009t0004g0250 a0010c0009t0005g0007 a0012c0012t0004g0094 a0012c0012t0004g0108 a0012c0012t0004g0109 a0012c0012t0004g0195 a0015c0019t0005g0219 a0015c0019t0005g0231 a0015c0019t0005g0232 a0020c0032t0004g0062 a0020c0032t0004g0277 a0023c0028t0005g0258 a0024c0024t0005g0041 a0024c0024t0005g0111 a0030c0063t0004g0081 a0049c0066t0004g0107 a0050c0068t0004g0216 a0051c0067t0004g0191	27	284	0.0951	-6	c.279 others(25): Show c.2791-2058_2791-2053delCTTGAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172202332	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(88): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18995.hp2 NA19001.hp2 NA19004.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0001t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0005t0001g0002 a0001c0006t0001g0002	91	408	0.2230	-6	c.463 others(21): Show c.463-863_463-858delAAAAAA	EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG03710.hp1 others(10): Show HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0017g0090	13	350	0.0371	-6	c.100 others(25): Show c.1000+1874_1000+1879delTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55898070	ATTCCTT ATTCCTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02897.hp2 HG03453.hp2 HG01884.hp2 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0200 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0200	3	350	0.0086	-6	c.518 others(25): Show c.518-16342_518-16337delAAGGAA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19908562	AAGAGAG AAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01952.hp2 others(5): Show HG00735.hp2 HG01109.hp2 HG01952.hp2 HG01981.hp2 HG02293.hp2 HG02922.hp1 HG02965.hp1 NA18998.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0007c0007	a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0007c0007t0002	a0001c0001t0002g0246 a0002c0002t0001g0109 a0003c0004t0001g0148 others(5): Show a0001c0001t0002g0246 a0002c0002t0001g0109 a0003c0004t0001g0148 a0003c0004t0001g0177 a0007c0007t0002g0198 a0007c0007t0002g0199 a0007c0007t0002g0200 a0007c0007t0002g0309	8	344	0.0233	-6	c.128 others(25): Show c.1289-2819_1289-2814delCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908596	GAGAGAA GAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18994.hp2 NA19057.hp2 NA18984.hp1 NA18994.hp2 NA19057.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0232 a0001c0001t0002g0233 a0004c0005t0001g0168 a0001c0001t0002g0232 a0001c0001t0002g0233 a0004c0005t0001g0168	3	344	0.0087	-6	c.128 others(25): Show c.1289-2853_1289-2848delTTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908600	GAAAGAA GAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG03209.hp1 HG01884.hp2 HG02622.hp1 HG03209.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0008 a0006c0008t0002g0205 a0006c0008t0002g0008 a0006c0008t0002g0205	3	344	0.0087	-6	c.128 others(25): Show c.1289-2857_1289-2852delTTCTTT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar

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