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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ALPK2_chr18_58476247_58634091	58492146	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0010 a0013c0025t0010	a0013c0025t0010g0110 a0013c0025t0010g0110	1	163	0.0061	14	c.629 others(33): Show c.6296+5889_6296+5902dupGTGTGTGTGTGTGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 NA18989.hp2 HG00099.hp2 HG00741.hp1 NA18989.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0001c0002t0003 a0003c0004t0003 a0001c0002t0002 a0001c0002t0003 a0003c0004t0003	a0001c0002t0002g0002 a0001c0002t0003g0148 a0003c0004t0003g0130 a0001c0002t0002g0002 a0001c0002t0003g0148 a0003c0004t0003g0130	3	267	0.0112	14	c.566 others(33): Show c.5665+2180_5665+2181insAAAAAAAAAAAAAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTCTTTTT others(7): Show CTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19080.hp1 NA19055.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0082 a0003c0004 a0001c0082 a0003c0004	a0001c0082t0005 a0003c0004t0006 a0001c0082t0005 a0003c0004t0006	a0001c0082t0005g0175 a0003c0004t0006g0027 a0001c0082t0005g0175 a0003c0004t0006g0027	2	24	0.0833	14	c.566 others(33): Show c.5665+2178_5665+2179insAAAAAAAAAAAAGA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00735.hp2 others(9): Show HG00099.hp1 HG00621.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01192.hp2 HG01256.hp2 HG02735.hp1 HG03017.hp1 NA20805.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0025	a0001c0002 a0001c0014 a0003c0004 others(3): Show a0001c0002 a0001c0014 a0003c0004 a0003c0067 a0006c0009 a0025c0091	a0001c0002t0003 a0001c0002t0007 a0001c0014t0004 others(7): Show a0001c0002t0003 a0001c0002t0007 a0001c0014t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005 a0003c0067t0009 a0006c0009t0006 a0025c0091t0003	a0001c0002t0003g0128 a0001c0002t0003g0180 a0001c0002t0007g0061 others(9): Show a0001c0002t0003g0128 a0001c0002t0003g0180 a0001c0002t0007g0061 a0001c0014t0004g0132 a0003c0004t0001g0154 a0003c0004t0002g0035 a0003c0004t0003g0184 a0003c0004t0005g0228 a0003c0067t0009g0042 a0006c0009t0006g0008 a0006c0009t0006g0012 a0025c0091t0003g0134	12	34	0.3529	14	c.566 others(33): Show c.5665+2165_5665+2178dupAAAAAAAAAAAAAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58556169	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02630.hp1 HG02717.hp2 others(1): Show HG00733.hp1 HG02630.hp1 HG02717.hp2 HG06807.hp2	a0001 a0007 a0030 others(1): Show a0001 a0007 a0030 a0036	a0001c0014 a0007c0034 a0030c0066 others(1): Show a0001c0014 a0007c0034 a0030c0066 a0036c0049	a0001c0014t0020 a0007c0034t0004 a0030c0066t0001 others(1): Show a0001c0014t0020 a0007c0034t0004 a0030c0066t0001 a0036c0049t0004	a0001c0014t0020g0089 a0007c0034t0004g0247 a0030c0066t0001g0273 others(1): Show a0001c0014t0020g0089 a0007c0034t0004g0247 a0030c0066t0001g0273 a0036c0049t0004g0248	4	269	0.0149	14	c.196 others(35): Show c.1963-17959_1963-17946dupTGTGTGTGTGTGTG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58556189	A A	ACACACAC others(7): Show ACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG02258.hp2 others(3): Show HG00642.hp1 HG02145.hp1 HG02258.hp2 HG02970.hp1 HG03130.hp2 NA21309.hp1	a0014 a0019 a0034 a0014 a0019 a0034	a0014c0022 a0019c0033 a0034c0074 a0014c0022 a0019c0033 a0034c0074	a0014c0022t0004 a0019c0033t0008 a0034c0074t0001 a0014c0022t0004 a0019c0033t0008 a0034c0074t0001	a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 others(3): Show a0014c0022t0004g0138 a0014c0022t0004g0145 a0014c0022t0004g0150 a0019c0033t0008g0160 a0019c0033t0008g0287 a0034c0074t0001g0162	6	317	0.0189	14	c.196 others(35): Show c.1963-17966_1963-17965insCGTGTGTGTGTGTG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04228.hp2 HG00735.hp1 HG04228.hp2	a0003 a0023 a0003 a0023	a0003c0004 a0023c0057 a0003c0004 a0023c0057	a0003c0004t0021 a0023c0057t0012 a0003c0004t0021 a0023c0057t0012	a0003c0004t0021g0117 a0023c0057t0012g0101 a0003c0004t0021g0117 a0023c0057t0012g0101	2	26	0.0769	14	c.196 others(35): Show c.1962+14677_1962+14690dupAAAAAAAAAAAAAA		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00738.hp2 others(11): Show HG00323.hp1 HG00642.hp2 HG00738.hp2 HG02027.hp1 HG02818.hp1 HG03654.hp1 NA18906.hp2 NA18960.hp2 NA18964.hp2 NA18971.hp2 NA18972.hp1 NA18990.hp1 NA19000.hp2 NA20905.hp1	a0003 a0004 a0010 others(3): Show a0003 a0004 a0010 a0012 a0016 a0042	a0003c0004 a0003c0018 a0004c0003 others(4): Show a0003c0004 a0003c0018 a0004c0003 a0010c0063 a0012c0010 a0016c0050 a0042c0051	a0003c0004t0004 a0003c0004t0006 a0003c0018t0005 others(8): Show a0003c0004t0004 a0003c0004t0006 a0003c0018t0005 a0004c0003t0001 a0004c0003t0004 a0004c0003t0005 a0010c0063t0007 a0012c0010t0001 a0012c0010t0004 a0016c0050t0006 a0042c0051t0001	a0003c0004t0004g0256 a0003c0004t0006g0037 a0003c0018t0005g0158 others(11): Show a0003c0004t0004g0256 a0003c0004t0006g0037 a0003c0018t0005g0158 a0004c0003t0001g0268 a0004c0003t0001g0304 a0004c0003t0001g0317 a0004c0003t0004g0313 a0004c0003t0005g0183 a0010c0063t0007g0069 a0012c0010t0001g0186 a0012c0010t0001g0312 a0012c0010t0004g0298 a0016c0050t0006g0080 a0042c0051t0001g0157	14	162	0.0864	14	c.196 others(29): Show c.1962+67_1962+80dupGTGTGTGTGTGTGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCTCAC others(7): Show TCTCTCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01069.hp2 others(18): Show HG00099.hp2 HG00408.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG04199.hp1 HG04204.hp2 NA18971.hp1 NA19056.hp2 NA19085.hp2 NA21309.hp2	a0001 a0003 a0005 others(8): Show a0001 a0003 a0005 a0007 a0011 a0017 a0019 a0021 a0025 a0031 a0039	a0001c0002 a0001c0014 a0001c0077 others(12): Show a0001c0002 a0001c0014 a0001c0077 a0003c0004 a0003c0020 a0003c0021 a0005c0005 a0007c0024 a0011c0008 a0017c0026 a0019c0033 a0021c0031 a0025c0090 a0031c0064 a0039c0094	a0001c0002t0001 a0001c0002t0003 a0001c0014t0004 others(15): Show a0001c0002t0001 a0001c0002t0003 a0001c0014t0004 a0001c0077t0005 a0003c0004t0001 a0003c0004t0003 a0003c0020t0003 a0003c0021t0001 a0005c0005t0001 a0007c0024t0001 a0011c0008t0008 a0017c0026t0001 a0017c0026t0003 a0019c0033t0008 a0021c0031t0004 a0025c0090t0001 a0031c0064t0001 a0039c0094t0005	a0001c0002t0001g0126 a0001c0002t0003g0125 a0001c0002t0003g0128 others(18): Show a0001c0002t0001g0126 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0014t0004g0132 a0001c0014t0004g0133 a0001c0077t0005g0271 a0003c0004t0001g0302 a0003c0004t0003g0130 a0003c0004t0003g0253 a0003c0020t0003g0258 a0003c0021t0001g0274 a0005c0005t0001g0124 a0007c0024t0001g0272 a0011c0008t0008g0250 a0017c0026t0001g0129 a0017c0026t0003g0123 a0019c0033t0008g0287 a0021c0031t0004g0277 a0025c0090t0001g0131 a0031c0064t0001g0251 a0039c0094t0005g0315	21	33	0.6364	14	c.-82 others(23): Show c.-821_-820insTGTGTGTGTGAGAG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					473		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCTCTC others(7): Show TCTCTCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00733.hp1 others(29): Show HG00323.hp1 HG00438.hp1 HG00733.hp1 HG00741.hp2 HG01192.hp1 HG02015.hp2 HG02027.hp1 HG02135.hp2 HG02280.hp2 HG03516.hp1 HG04115.hp1 HG04115.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18966.hp2 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0012 a0030	a0001c0002 a0002c0001 a0002c0016 others(9): Show a0001c0002 a0002c0001 a0002c0016 a0003c0004 a0003c0053 a0004c0003 a0004c0071 a0006c0009 a0009c0007 a0010c0011 a0012c0010 a0030c0066	a0001c0002t0005 a0002c0001t0001 a0002c0001t0024 others(17): Show a0001c0002t0005 a0002c0001t0001 a0002c0001t0024 a0002c0016t0001 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0053t0001 a0004c0003t0001 a0004c0003t0003 a0004c0003t0004 a0004c0003t0005 a0004c0003t0016 a0004c0071t0001 a0006c0009t0001 a0006c0009t0003 a0009c0007t0001 a0010c0011t0003 a0012c0010t0001 a0030c0066t0001	a0001c0002t0005g0289 a0001c0002t0005g0307 a0002c0001t0001g0255 others(29): Show a0001c0002t0005g0289 a0001c0002t0005g0307 a0002c0001t0001g0255 a0002c0001t0024g0299 a0002c0016t0001g0288 a0003c0004t0001g0260 a0003c0004t0003g0310 a0003c0004t0003g0311 a0003c0004t0004g0256 a0003c0053t0001g0309 a0004c0003t0001g0265 a0004c0003t0001g0266 a0004c0003t0001g0268 a0004c0003t0001g0294 a0004c0003t0001g0295 a0004c0003t0001g0304 a0004c0003t0001g0317 a0004c0003t0003g0254 a0004c0003t0003g0305 a0004c0003t0004g0263 a0004c0003t0004g0270 a0004c0003t0004g0296 a0004c0003t0005g0183 a0004c0003t0016g0261 a0004c0003t0016g0286 a0004c0071t0001g0291 a0006c0009t0001g0290 a0006c0009t0003g0306 a0009c0007t0001g0285 a0010c0011t0003g0259 a0012c0010t0001g0293 a0030c0066t0001g0273	32	44	0.7273	14	c.-82 others(23): Show c.-821_-820insTGTGTGTGAGAGAG		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding					473		chr18	TogoVar
ALPK3_chr15_84812356_84878479	84833957	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02523.hp2 HG02165.hp1 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0002 a0002c0006t0006 a0001c0002t0002 a0002c0006t0006	a0001c0002t0002g0217 a0002c0006t0006g0114 a0001c0002t0002g0217 a0002c0006t0006g0114	2	83	0.0241	14	c.305 others(31): Show c.305-5005_305-4992dupGTGTGTGTGTGTGT		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84838638	T T	TTATTATT others(7): Show TTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02040.hp1 others(8): Show HG00544.hp2 HG02027.hp1 HG02040.hp1 HG02647.hp1 HG03139.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18950.hp1 NA19057.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0001 a0001c0002t0002 a0005c0011t0028 a0001c0001t0001 a0001c0002t0002 a0005c0011t0028	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0107 others(8): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0002t0002g0036 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0002g0225 a0005c0011t0028g0027	11	101	0.1089	14	c.305 others(29): Show c.305-341_305-340insATTATTATTATTAT		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84847208	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0005 a0007c0026t0005	a0007c0026t0005g0018 a0007c0026t0005g0018	1	58	0.0172	14	c.165 others(33): Show c.1653+6304_1653+6317dupAGAGAGAGAGAGAG		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19012.hp1 HG02165.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0166 a0001c0001t0005g0133 a0001c0001t0005g0166	2	180	0.0111	14	c.165 others(33): Show c.1654-5490_1654-5477dupACACACACACACAC		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0003 a0008c0042t0003	a0008c0042t0003g0242 a0008c0042t0003g0242	1	179	0.0056	14	c.165 others(33): Show c.1654-5512_1654-5511insTACACACACACACA		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATATACA others(7): Show TATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00738.hp1 others(32): Show HG00408.hp2 HG00423.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG02004.hp2 HG02040.hp2 HG02129.hp2 HG02486.hp1 HG02602.hp2 HG04204.hp1 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18985.hp1 NA18994.hp2 NA19009.hp2 NA19070.hp2 NA19091.hp2 NA20905.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0006 a0008 a0014 a0017 a0027	a0001c0004 a0003c0005 a0004c0007 others(5): Show a0001c0004 a0003c0005 a0004c0007 a0006c0009 a0008c0014 a0014c0019 a0017c0048 a0027c0049	a0001c0004t0005 a0003c0005t0003 a0004c0007t0003 others(5): Show a0001c0004t0005 a0003c0005t0003 a0004c0007t0003 a0006c0009t0005 a0008c0014t0003 a0014c0019t0003 a0017c0048t0003 a0027c0049t0003	a0001c0004t0005g0175 a0003c0005t0003g0002 a0003c0005t0003g0016 others(22): Show a0001c0004t0005g0175 a0003c0005t0003g0002 a0003c0005t0003g0016 a0003c0005t0003g0049 a0003c0005t0003g0050 a0003c0005t0003g0051 a0003c0005t0003g0052 a0003c0005t0003g0053 a0003c0005t0003g0055 a0003c0005t0003g0057 a0003c0005t0003g0058 a0003c0005t0003g0063 a0003c0005t0003g0066 a0003c0005t0003g0070 a0003c0005t0003g0072 a0003c0005t0003g0075 a0004c0007t0003g0002 a0004c0007t0003g0069 a0006c0009t0005g0059 a0006c0009t0005g0060 a0006c0009t0005g0065 a0008c0014t0003g0026 a0014c0019t0003g0015 a0017c0048t0003g0073 a0027c0049t0003g0002	35	213	0.1643	14	c.165 others(33): Show c.1654-5512_1654-5511insTATACACACACACA		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATATATA others(7): Show TATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0197 a0004c0007t0003g0197	1	179	0.0056	14	c.165 others(33): Show c.1654-5512_1654-5511insTATATACACACACA		ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPL_chr1_21504423_21583410	21552114	T T	TCCCCTCC others(7): Show TCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(97): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0002c0002 a0003c0004 a0005c0009 a0010c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0003t0002 a0001c0003t0005 a0001c0003t0019 a0001c0008t0004 a0001c0012t0004 a0002c0002t0002 a0003c0004t0005 a0005c0009t0004 a0010c0010t0003	a0001c0001t0002g0030 a0001c0001t0002g0062 a0001c0001t0002g0086 others(95): Show a0001c0001t0002g0030 a0001c0001t0002g0062 a0001c0001t0002g0086 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0003g0002 a0001c0001t0003g0025 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0104 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0266 a0001c0001t0003g0277 a0001c0001t0003g0285 a0001c0001t0003g0298 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0328 a0001c0001t0003g0344 a0001c0001t0004g0004 a0001c0001t0004g0070 a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0004g0130 a0001c0001t0004g0135 a0001c0001t0004g0155 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0006g0063 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0268 a0001c0001t0008g0228 a0001c0001t0008g0260 a0001c0001t0008g0305 a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0353 a0001c0001t0013g0134 a0001c0001t0014g0351 a0001c0001t0015g0131 a0001c0001t0018g0224 a0001c0003t0002g0071 a0001c0003t0005g0072 a0001c0003t0005g0082 a0001c0003t0005g0109 a0001c0003t0005g0148 a0001c0003t0005g0149 a0001c0003t0005g0150 a0001c0003t0005g0152 a0001c0003t0005g0164 a0001c0003t0005g0252 a0001c0003t0005g0306 a0001c0003t0005g0366 a0001c0003t0019g0367 a0001c0008t0004g0147 a0001c0012t0004g0121 a0002c0002t0002g0145 a0003c0004t0005g0003 a0003c0004t0005g0180 a0003c0004t0005g0181 a0003c0004t0005g0182 a0003c0004t0005g0195 a0003c0004t0005g0196 a0003c0004t0005g0239 a0003c0004t0005g0241 a0003c0004t0005g0273 a0005c0009t0004g0299 a0005c0009t0004g0300 a0010c0010t0003g0017	100	103	0.9709	14	c.-10 others(33): Show c.-104-1864_-104-1863insCCCCTCCCCTCCCC		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11						chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GAAGAGGA others(7): Show GAAGAGGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0010 a0005c0007t0004g0010	1	260	0.0038	14	c.32 others(25): Show c.3282_*3283insAAGAGGAAGAAGAA		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2189		chr2	TogoVar
ALS2_chr2_201695267_201785933	201706535	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	28	0.0357	14	c.458 others(31): Show c.4580+297_4580+310dupTATATATATATATA		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/33						chr2	TogoVar
ALS2_chr2_201695267_201785933	201734467	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01070.hp1 others(12): Show HG00099.hp1 HG00642.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp2 HG02027.hp2 HG02145.hp2 HG02293.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG03710.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0002c0006t0001	a0001c0001t0001g0217 a0001c0004t0001g0006 a0001c0004t0001g0044 others(11): Show a0001c0001t0001g0217 a0001c0004t0001g0006 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0216 a0001c0004t0003g0029 a0002c0006t0001g0058 a0002c0006t0001g0059	15	339	0.0442	14	c.241 others(33): Show c.2418-1030_2418-1029insTTTTTTTTTTTTTT		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	12/33						chr2	TogoVar
ALS2_chr2_201695267_201785933	201758760	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03688.hp1 HG03491.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0313 a0001c0001t0001g0302 a0001c0001t0001g0313	2	27	0.0741	14	c.111 others(33): Show c.1114-1015_1114-1002dupCACACACACACACA		ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/33						chr2	TogoVar
AMBN_chr4_70587256_70612288	70588670	A A	ACTCCGTC others(7): Show ACTCCGTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	469	0.0021	14	c.-36 others(25): Show c.-3689_-3688insCTCCGTCTCTCTCT		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3585		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTATAT others(7): Show CTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02055.hp1 HG03195.hp2 others(3): Show HG00544.hp2 HG02055.hp1 HG03195.hp2 NA18992.hp1 NA19062.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0001t0004g0021 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0001t0004g0021 a0001c0003t0001g0218	6	133	0.0451	14	c.-36 others(25): Show c.-3652_-3651insTCTATATATATATA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG00741.hp2 others(5): Show HG00438.hp2 HG00673.hp2 HG00741.hp2 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG02165.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0003t0001g0067 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0003t0001g0067 a0001c0003t0001g0151	8	135	0.0593	14	c.-36 others(25): Show c.-3652_-3651insTCTCTATATATATA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG03688.hp1 others(6): Show HG00741.hp1 HG01123.hp2 HG03688.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0163 a0001c0003t0001g0008 a0002c0002t0001g0028 a0002c0002t0001g0077	9	136	0.0662	14	c.-36 others(25): Show c.-3652_-3651insTCTCTCTATATATA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02602.hp2 HG02698.hp2 others(12): Show HG02135.hp1 HG02602.hp2 HG02698.hp2 HG03834.hp1 NA18957.hp2 NA18962.hp2 NA18969.hp2 NA18977.hp1 NA19064.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19080.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0019	a0001c0001 a0001c0003 a0005c0011 others(2): Show a0001c0001 a0001c0003 a0005c0011 a0008c0010 a0019c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0005c0011t0002 a0008c0010t0002 a0019c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0054 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0132 a0001c0001t0001g0158 a0001c0001t0002g0032 a0001c0003t0001g0008 a0005c0011t0002g0157 a0008c0010t0002g0142 a0019c0017t0001g0001	15	142	0.1056	14	c.-36 others(25): Show c.-3652_-3651insTCTCTCTCTATATA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG02135.hp2 others(8): Show HG00099.hp1 HG00408.hp2 HG02135.hp2 HG03654.hp2 NA18961.hp2 NA18982.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19068.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0002g0032 a0002c0002t0001g0079 a0002c0002t0001g0091	11	138	0.0797	14	c.-36 others(25): Show c.-3652_-3651insTCTCTCTCTCTATA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG04184.hp2 NA18944.hp2 others(7): Show HG03942.hp1 HG04184.hp2 NA18944.hp2 NA18957.hp1 NA18968.hp1 NA18972.hp1 NA19003.hp2 NA19005.hp1 NA19055.hp2 NA19057.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0135 a0001c0001t0002g0032 a0001c0001t0002g0134 a0002c0002t0001g0075 a0002c0002t0001g0078 a0005c0009t0002g0036	10	137	0.0730	14	c.-36 others(25): Show c.-3652_-3651insTCTCTCTCTCTCTA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70590956	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02165.hp1 NA18982.hp2 others(3): Show HG00544.hp2 HG02165.hp1 NA18982.hp2 NA18992.hp1 NA19062.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0002g0001	6	129	0.0465	14	c.-14 others(25): Show c.-1403_-1402insAAAAAAAAAAAAAA		AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding					1299		chr4	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01106.hp1 others(41): Show HG00323.hp1 HG00738.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02083.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18963.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18997.hp1 NA19058.hp2 NA19059.hp2 NA19077.hp1 NA19079.hp1 NA19090.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0001c0001t0001 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0040 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0002t0001g0295 a0003c0007t0001g0061	44	47	0.9362	14	c.603 others(31): Show c.603+3309_603+3322dupACACACACACACAC		AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9						chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	10	0.1000	14	c.297 others(33): Show c.2977-1957_2977-1944dupGTGTGTGTGTGTGT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02004.hp2 others(7): Show HG01192.hp2 HG01496.hp2 HG02004.hp2 HG02559.hp1 HG03209.hp2 HG03654.hp2 NA18990.hp2 NA19010.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134	10	73	0.1370	14	c.207 others(35): Show c.2072+14454_2072+14467dupTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	8	0.1250	14	c.-12 others(33): Show c.-120-3882_-120-3869dupTTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46569440	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	116	0.0086	14	c.-12 others(35): Show c.-120-20941_-120-20940insATATATATATTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46583677	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	150	0.0067	14	c.-12 others(35): Show c.-121+10150_-121+10151insGTTTTTTTTTTTTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	67	0.0149	14	c.-12 others(33): Show c.-121+8132_-121+8133insATATATATATATTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95946059	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0167 a0001c0001t0013g0167	1	159	0.0063	14	c.137 others(31): Show c.137+2525_137+2526insGTGTGTGTGTGTGT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(7): Show TAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp1 HG02922.hp2 others(3): Show HG01167.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0031 a0001c0001t0001g0096 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0096 a0001c0001t0001g0201 a0001c0001t0007g0093 a0001c0001t0007g0115 a0001c0001t0014g0031	6	332	0.0181	14	c.245 others(29): Show c.245-331_245-330insTAAAATAAAATAAA		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964928	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG02965.hp1 others(5): Show HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03225.hp2 NA18522.hp1 NA18990.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0117 a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0005g0098 a0001c0001t0005g0159 a0001c0002t0003g0271	8	72	0.1111	14	c.939 others(29): Show c.939-748_939-735dupAAAAAAAAAAAAAA		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95971936	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	150	0.0067	14	c.40 others(25): Show c.4093_*4094insTTTTTTTTTTTTTT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding					3217		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2516391	C C	CATGAGCC others(7): Show CATGAGCCACCATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	316	0.0032	14	c.-40 others(25): Show c.-4068_-4067insATGAGCCACCATGA		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					3979		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(15): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00735.hp2 HG01069.hp1 HG01891.hp1 HG01975.hp1 HG02083.hp2 HG02257.hp1 HG02257.hp2 HG02896.hp1 HG03139.hp2 HG03688.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0004g0002 a0001c0001t0012g0077	18	30	0.6000	14	c.38 others(25): Show c.3867_*3868insTTTTTTTTTTTTTT		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					2014		chr16	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	108	0.0093	14	c.36 others(23): Show c.364_*365insTATATACACACACA		AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2				364		chrX	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0012	1	108	0.0093	14	c.36 others(23): Show c.364_*365insTATACACACACACA		AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2				364		chrX	TogoVar
AMER2_chr13_25156679_25177288	25159121	A A	ATATTATA others(7): Show ATATTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00408.hp2 HG00642.hp2 HG00733.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01257.hp1 HG02280.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18978.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0001t0065 a0001c0001t0068 a0001c0001t0073 a0001c0001t0076 a0001c0001t0079 a0001c0001t0093 a0001c0015t0005	a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 others(13): Show a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0016g0000 a0001c0001t0022g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0001t0040g0000 a0001c0001t0065g0000 a0001c0001t0068g0000 a0001c0001t0073g0000 a0001c0001t0076g0000 a0001c0001t0079g0000 a0001c0001t0093g0000 a0001c0015t0005g0000	43	315	0.1365	14	c.10 others(27): Show c.10482_*10483insGAGCATATATAATA		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2557		chr13	TogoVar
AMER2_chr13_25156679_25177288	25171521	C C	CCCGGCCT others(7): Show CCCGGCCTCCGCCTT	frameshift_variant frameshift_variant	HIGH	NA20129.hp2 NA20129.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0015 a0009c0008t0015	a0009c0008t0015g0000 a0009c0008t0015g0000	1	414	0.0024	14	c.85_ others(19): Show c.85_98dupAAGGCGGAGGCCGG	p.Ala others(4): Show p.Ala34fs	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	767/10610	98/2016	33/671			chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(7): Show CCTTCCTTCCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	164	0.0061	14	c.-32 others(25): Show c.-3207_-3206insAAGAAGGAAGGAAG		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2538		chr13	TogoVar
AMFR_chr16_56356452_56430545	56359468	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 NA19030.hp1 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0009g0224 a0001c0001t0009g0232	2	335	0.0060	14	c.34 others(25): Show c.3440_*3441insTTTTTTTTTTTTTT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding					1983		chr16	TogoVar
AMFR_chr16_56356452_56430545	56359469	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0327 a0001c0002t0012g0322 a0001c0002t0012g0327	2	86	0.0233	14	c.34 others(25): Show c.3439_*3440insTTTTTTTTTTTTTT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding					1982		chr16	TogoVar

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