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
ATXN1_chr6_16294112_16766460	16378537	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0039 a0004c0037 a0002c0039 a0004c0037	a0002c0039t0012 a0004c0037t0001 a0002c0039t0012 a0004c0037t0001	a0002c0039t0012g0030 a0004c0037t0001g0016 a0002c0039t0012g0030 a0004c0037t0001g0016	2	84	0.0238	-12	c.-16 others(33): Show c.-160-50079_-160-50068delTAAATAAATAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03098.hp1 HG00642.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0011 a0001c0008 a0002c0011	a0001c0008t0046 a0002c0011t0012 a0001c0008t0046 a0002c0011t0012	a0001c0008t0046g0062 a0002c0011t0012g0135 a0001c0008t0046g0062 a0002c0011t0012g0135	2	4	0.5000	-12	c.-16 others(33): Show c.-160-73784_-160-73773delAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16439355	GGGGGGCG others(5): Show GGGGGGCGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp1 others(26): Show HG00140.hp1 HG00140.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 NA18522.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0020 a0001c0034 a0002c0003 a0002c0004 a0003c0002 a0003c0013 a0003c0015 a0003c0021 a0003c0036 a0004c0006 a0005c0007 a0005c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0044 a0001c0008t0011 a0001c0010t0004 a0001c0010t0024 a0001c0012t0006 a0001c0020t0015 a0001c0034t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0013 a0002c0004t0002 a0003c0002t0010 a0003c0013t0001 a0003c0015t0004 a0003c0021t0004 a0003c0021t0014 a0003c0036t0004 a0004c0006t0002 a0005c0007t0001 a0005c0007t0019 a0005c0038t0018	a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0108 others(26): Show a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0002g0077 a0001c0001t0010g0128 a0001c0001t0044g0118 a0001c0008t0011g0053 a0001c0010t0004g0086 a0001c0010t0004g0144 a0001c0010t0004g0161 a0001c0010t0024g0048 a0001c0012t0006g0052 a0001c0020t0015g0017 a0001c0034t0004g0065 a0002c0003t0001g0180 a0002c0003t0002g0120 a0002c0003t0009g0055 a0002c0003t0013g0033 a0002c0004t0002g0028 a0003c0002t0010g0015 a0003c0013t0001g0117 a0003c0015t0004g0044 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0036t0004g0067 a0004c0006t0002g0162 a0005c0007t0001g0098 a0005c0007t0019g0001 a0005c0038t0018g0054	29	179	0.1620	-12	c.-16 others(33): Show c.-161+46605_-161+46616delGGCCCCGCCCCC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG02257.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0032 a0002c0004 a0001c0032 a0002c0004	a0001c0032t0018 a0002c0004t0009 a0001c0032t0018 a0002c0004t0009	a0001c0032t0018g0059 a0002c0004t0009g0163 a0001c0032t0018g0059 a0002c0004t0009g0163	2	31	0.0645	-12	c.-16 others(33): Show c.-161+19643_-161+19654delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16471191	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp2 HG02132.hp1 HG02155.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0123 a0003c0009t0001g0093 a0001c0001t0001g0123 a0003c0009t0001g0093	2	82	0.0244	-12	c.-16 others(33): Show c.-161+14769_-161+14780delGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16480154	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(28): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01978.hp2 HG02135.hp2 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03516.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19062.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0001c0019 others(15): Show a0001c0001 a0001c0010 a0001c0019 a0001c0041 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0022 a0004c0005 a0004c0006 a0004c0026 a0005c0007 a0005c0017	a0001c0001t0002 a0001c0001t0029 a0001c0010t0004 others(23): Show a0001c0001t0002 a0001c0001t0029 a0001c0010t0004 a0001c0019t0001 a0001c0041t0036 a0002c0003t0001 a0002c0003t0002 a0002c0004t0003 a0002c0011t0007 a0002c0011t0027 a0002c0018t0045 a0003c0002t0003 a0003c0002t0008 a0003c0002t0043 a0003c0009t0001 a0003c0009t0017 a0003c0013t0002 a0003c0015t0025 a0003c0022t0001 a0004c0005t0002 a0004c0006t0002 a0004c0006t0003 a0004c0026t0001 a0005c0007t0005 a0005c0007t0016 a0005c0017t0001	a0001c0001t0002g0020 a0001c0001t0002g0129 a0001c0001t0029g0145 others(28): Show a0001c0001t0002g0020 a0001c0001t0002g0129 a0001c0001t0029g0145 a0001c0010t0004g0050 a0001c0019t0001g0107 a0001c0041t0036g0095 a0002c0003t0001g0130 a0002c0003t0002g0120 a0002c0004t0003g0166 a0002c0011t0007g0151 a0002c0011t0007g0155 a0002c0011t0027g0134 a0002c0018t0045g0147 a0003c0002t0003g0007 a0003c0002t0003g0133 a0003c0002t0008g0063 a0003c0002t0043g0175 a0003c0009t0001g0073 a0003c0009t0017g0121 a0003c0013t0002g0029 a0003c0015t0025g0142 a0003c0022t0001g0104 a0003c0022t0001g0146 a0004c0005t0002g0075 a0004c0006t0002g0035 a0004c0006t0003g0066 a0004c0026t0001g0156 a0005c0007t0005g0036 a0005c0007t0005g0091 a0005c0007t0016g0153 a0005c0017t0001g0074	31	44	0.7045	-12	c.-16 others(31): Show c.-161+5806_-161+5817delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16536718	CTGCAATG others(5): Show CTGCAATGTGCAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	180	0.0056	-12	c.-36 others(33): Show c.-360-14042_-360-14031delTTGCACATTGCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16566858	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0016 a0005c0007t0016	a0005c0007t0016g0153 a0005c0007t0016g0153	1	28	0.0357	-12	c.-36 others(33): Show c.-361+18910_-361+18921delGTTGTTGTTGTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581195	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02723.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02723.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 a0002c0003 a0002c0004 a0002c0018	a0002c0003t0033 a0002c0004t0003 a0002c0018t0002 a0002c0003t0033 a0002c0004t0003 a0002c0018t0002	a0002c0003t0033g0165 a0002c0004t0003g0051 a0002c0004t0003g0114 others(1): Show a0002c0003t0033g0165 a0002c0004t0003g0051 a0002c0004t0003g0114 a0002c0018t0002g0004	4	113	0.0354	-12	c.-36 others(31): Show c.-361+4573_-361+4584delCACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581214	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp1 HG01884.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0020 a0005c0016t0001 a0001c0001t0020 a0005c0016t0001	a0001c0001t0020g0002 a0005c0016t0001g0025 a0001c0001t0020g0002 a0005c0016t0001g0025	2	179	0.0112	-12	c.-36 others(31): Show c.-361+4554_-361+4565delGCACACACACAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16654541	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	163	0.0061	-12	c.-48 others(31): Show c.-489+3223_-489+3234delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16654557	AAAAAAAA others(5): Show AAAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	179	0.0056	-12	c.-48 others(31): Show c.-489+3207_-489+3218delCTCTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16679372	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(105): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(30): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0041 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0030 a0002c0039 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0022 a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0026 a0004c0027 a0004c0037 a0005c0007 a0005c0016 a0005c0028 a0005c0029 a0005c0038	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(68): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0008t0001 a0001c0008t0010 a0001c0008t0011 a0001c0008t0012 a0001c0008t0047 a0001c0010t0004 a0001c0010t0014 a0001c0010t0024 a0001c0012t0006 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0032t0018 a0001c0033t0001 a0001c0041t0036 a0001c0042t0038 a0002c0003t0001 a0002c0003t0009 a0002c0003t0013 a0002c0003t0022 a0002c0003t0031 a0002c0003t0033 a0002c0003t0037 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0009 a0002c0004t0035 a0002c0004t0049 a0002c0011t0001 a0002c0011t0012 a0002c0030t0011 a0002c0039t0012 a0002c0040t0006 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0002t0016 a0003c0009t0001 a0003c0009t0017 a0003c0013t0002 a0003c0013t0007 a0003c0015t0004 a0003c0015t0025 a0003c0022t0001 a0004c0005t0002 a0004c0005t0032 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0014t0001 a0004c0023t0002 a0004c0026t0001 a0004c0027t0001 a0004c0037t0001 a0005c0007t0005 a0005c0007t0016 a0005c0016t0001 a0005c0028t0003 a0005c0029t0034 a0005c0038t0018	a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0105 others(105): Show a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0001t0010g0128 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0008t0001g0009 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0012g0148 a0001c0008t0047g0060 a0001c0010t0004g0050 a0001c0010t0004g0086 a0001c0010t0004g0144 a0001c0010t0004g0161 a0001c0010t0014g0082 a0001c0010t0024g0048 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0019t0001g0107 a0001c0020t0015g0125 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0041t0036g0095 a0001c0042t0038g0087 a0002c0003t0001g0039 a0002c0003t0001g0049 a0002c0003t0009g0055 a0002c0003t0013g0033 a0002c0003t0022g0119 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0003t0037g0150 a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0126 a0002c0004t0002g0164 a0002c0004t0003g0006 a0002c0004t0003g0057 a0002c0004t0003g0166 a0002c0004t0006g0010 a0002c0004t0009g0163 a0002c0004t0035g0018 a0002c0004t0049g0005 a0002c0011t0001g0034 a0002c0011t0012g0135 a0002c0030t0011g0047 a0002c0039t0012g0030 a0002c0040t0006g0132 a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0003g0061 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0010g0015 a0003c0002t0016g0111 a0003c0009t0001g0046 a0003c0009t0001g0073 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0001g0174 a0003c0009t0017g0179 a0003c0013t0002g0029 a0003c0013t0007g0011 a0003c0013t0007g0022 a0003c0015t0004g0044 a0003c0015t0025g0142 a0003c0022t0001g0146 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0177 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0169 a0004c0006t0003g0066 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0026t0001g0156 a0004c0027t0001g0064 a0004c0037t0001g0016 a0005c0007t0005g0036 a0005c0007t0005g0091 a0005c0007t0005g0100 a0005c0007t0005g0168 a0005c0007t0016g0153 a0005c0016t0001g0025 a0005c0016t0001g0127 a0005c0028t0003g0149 a0005c0029t0034g0139 a0005c0038t0018g0054	108	156	0.6923	-12	c.-61 others(33): Show c.-614-21483_-614-21472delTCCATCCATCCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714175	CACACACC others(5): Show CACACACCACACA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0050 a0001c0010t0004g0050	1	180	0.0056	-12	c.-61 others(33): Show c.-615+39046_-615+39057delTGTGTGGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714181	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0010 a0002c0031t0010	a0002c0031t0010g0173 a0002c0031t0010g0173	1	129	0.0078	-12	c.-61 others(33): Show c.-615+39040_-615+39051delTGTGTGTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(5): Show GCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp2 others(10): Show HG00544.hp1 HG00597.hp2 HG00621.hp2 HG02056.hp1 HG02071.hp1 HG04184.hp1 NA18747.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18975.hp1 NA18980.hp1 NA19000.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0025 a0001c0001 a0009c0025	a0001c0001t0001 a0009c0025t0001 a0001c0001t0001 a0009c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0106 a0009c0025t0001g0071	13	123	0.1057	-12	c.-32 others(21): Show c.-324_-313delCCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28823252	CTGCCATC others(5): Show CTGCCATCATGTT	C C	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	NA18956.hp2 NA18956.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0009 a0011c0028t0009	a0011c0028t0009g0062 a0011c0028t0009g0062	1	380	0.0026	-12	c.-7_ others(16): Show c.-7_5delTGCCATCATGTT	p.Met others(9): Show p.Met1_Leu2del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	255/4456	1/3228	1/1075			chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28830647	TCCGGGAA others(5): Show TCCGGGAAGGTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19084.hp2 NA19084.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0041 a0012c0023t0001g0041	1	380	0.0026	-12	c.107 others(21): Show c.1073_1084delAAGGTCCCCGGG	p.Glu others(13): Show p.Glu358_Arg361del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	9/22	1334/4456	1073/3228	358/1075		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111467307	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	71	0.0141	-12	c.284 others(31): Show c.2843-2604_2843-2593delAAAAAAAAAAAA		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01884.hp1 others(1): Show HG00099.hp2 HG01243.hp2 HG01884.hp1 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0006 a0001c0001 a0003c0004 a0003c0006	a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 others(1): Show a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 a0003c0006t0003	a0001c0001t0002g0250 a0003c0004t0003g0021 a0003c0004t0005g0006 others(1): Show a0001c0001t0002g0250 a0003c0004t0003g0021 a0003c0004t0005g0006 a0003c0006t0003g0116	4	27	0.1481	-12	c.251 others(29): Show c.251+9781_251+9792delTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596205	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(25): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0006 a0009 a0010	a0003c0004 a0003c0005 a0003c0006 others(6): Show a0003c0004 a0003c0005 a0003c0006 a0003c0012 a0004c0020 a0005c0023 a0006c0009 a0009c0022 a0010c0015	a0003c0004t0003 a0003c0004t0005 a0003c0005t0003 others(7): Show a0003c0004t0003 a0003c0004t0005 a0003c0005t0003 a0003c0006t0003 a0003c0012t0003 a0004c0020t0003 a0005c0023t0005 a0006c0009t0003 a0009c0022t0003 a0010c0015t0003	a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(25): Show a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 a0003c0004t0003g0021 a0003c0004t0003g0023 a0003c0004t0003g0024 a0003c0004t0005g0018 a0003c0004t0005g0020 a0003c0005t0003g0137 a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0111 a0003c0006t0003g0112 a0003c0006t0003g0113 a0003c0006t0003g0114 a0003c0006t0003g0115 a0003c0006t0003g0116 a0003c0006t0003g0117 a0003c0006t0003g0118 a0003c0012t0003g0003 a0004c0020t0003g0119 a0005c0023t0005g0122 a0006c0009t0003g0105 a0006c0009t0003g0106 a0009c0022t0003g0121 a0010c0015t0003g0019	28	65	0.4308	-12	c.251 others(29): Show c.251+2567_251+2578delGTGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18991.hp2 NA18942.hp1 NA18991.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0213 a0007c0011t0001g0214 a0007c0011t0001g0213 a0007c0011t0001g0214	2	42	0.0476	-12	c.74_ others(17): Show c.74_85delAGCAGCAGCAGC	p.Gln others(11): Show p.Gln25_Gln28del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	74/3468	25/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92097642	CAGCCTAC others(5): Show CAGCCTACCAAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01978.hp2 HG02040.hp1 others(18): Show HG00408.hp2 HG01978.hp2 HG02040.hp1 HG02165.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18980.hp1 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0003 a0013 a0016 a0003 a0013 a0016	a0003c0004 a0013c0065 a0016c0042 a0003c0004 a0013c0065 a0016c0042	a0003c0004t0005 a0003c0004t0074 a0013c0065t0005 others(1): Show a0003c0004t0005 a0003c0004t0074 a0013c0065t0005 a0016c0042t0005	a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0295 others(14): Show a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0295 a0003c0004t0005g0296 a0003c0004t0005g0297 a0003c0004t0005g0300 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0074g0385 a0013c0065t0005g0381 a0016c0042t0005g0298 a0016c0042t0005g0299	21	400	0.0525	-12	c.25- others(25): Show c.25-816_25-805delACTTGGTAGGCT		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	1/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105604255	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	77	0.0130	-12	c.35 others(23): Show c.3585_*3596delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding					516		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	236	0.0042	-12	c.151 others(29): Show c.1517+660_1517+671delAAAAAAAAAATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01261.hp2 others(8): Show HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02132.hp2 HG02523.hp1 HG03471.hp2 NA18995.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022 a0001c0001t0049 a0001c0001t0050 a0002c0002t0026	a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0089 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0002g0185 a0001c0001t0003g0010 a0001c0001t0005g0165 a0001c0001t0008g0063 a0001c0001t0022g0189 a0001c0001t0049g0087 a0001c0001t0050g0252 a0002c0002t0026g0212	11	158	0.0696	-12	c.151 others(29): Show c.1517+658_1517+669delAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105628792	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01175.hp2 others(32): Show HG00741.hp1 HG01074.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0011 a0001c0001 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0042 a0001c0001t0050 a0002c0002t0016 a0002c0002t0017 a0002c0002t0026 a0005c0011t0001	a0001c0001t0001g0155 a0001c0001t0002g0082 a0001c0001t0002g0108 others(32): Show a0001c0001t0001g0155 a0001c0001t0002g0082 a0001c0001t0002g0108 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0006g0206 a0001c0001t0007g0024 a0001c0001t0007g0067 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0167 a0001c0001t0007g0196 a0001c0001t0008g0058 a0001c0001t0008g0229 a0001c0001t0010g0228 a0001c0001t0014g0069 a0001c0001t0014g0139 a0001c0001t0015g0113 a0001c0001t0016g0224 a0001c0001t0020g0250 a0001c0001t0023g0008 a0001c0001t0025g0215 a0001c0001t0042g0121 a0001c0001t0050g0252 a0002c0002t0016g0066 a0002c0002t0016g0200 a0002c0002t0016g0220 a0002c0002t0017g0149 a0002c0002t0017g0221 a0002c0002t0017g0226 a0002c0002t0026g0208 a0002c0002t0026g0212 a0005c0011t0001g0092	35	116	0.3017	-12	c.120 others(31): Show c.1203-4537_1203-4526delATTTATTTATTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	7/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105645810	CACAAACA others(5): Show CACAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	88	0.0114	-12	c.579 others(29): Show c.579-2701_579-2690delTTGTTTGTTTGT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662019	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01255.hp2 others(9): Show HG00741.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02559.hp2 HG02630.hp2 HG03098.hp1 NA18522.hp1 NA18522.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0034 a0001c0001t0048 a0006c0009t0001	a0001c0001t0002g0225 a0001c0001t0004g0135 a0001c0001t0004g0211 others(9): Show a0001c0001t0002g0225 a0001c0001t0004g0135 a0001c0001t0004g0211 a0001c0001t0007g0196 a0001c0001t0008g0062 a0001c0001t0008g0229 a0001c0001t0012g0122 a0001c0001t0018g0168 a0001c0001t0022g0189 a0001c0001t0034g0180 a0001c0001t0048g0031 a0006c0009t0001g0096	12	236	0.0508	-12	c.578 others(29): Show c.578+3035_578+3046delGGAAAGAAAGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662023	TTTCTTTC others(5): Show TTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 HG01516.hp2 others(17): Show HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02027.hp1 HG02155.hp2 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03579.hp2 NA18948.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0040 a0001c0001t0046 a0007c0010t0027	a0001c0001t0001g0100 a0001c0001t0001g0202 a0001c0001t0001g0217 others(17): Show a0001c0001t0001g0100 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0243 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0003g0021 a0001c0001t0003g0056 a0001c0001t0003g0166 a0001c0001t0003g0177 a0001c0001t0005g0184 a0001c0001t0009g0055 a0001c0001t0009g0141 a0001c0001t0015g0194 a0001c0001t0015g0213 a0001c0001t0019g0183 a0001c0001t0029g0068 a0001c0001t0040g0110 a0001c0001t0046g0035 a0007c0010t0027g0204	20	221	0.0905	-12	c.578 others(29): Show c.578+3031_578+3042delGGAAGGAAAGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	54	0.0185	-12	c.356 others(29): Show c.356-5828_356-5817delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105685044	GATAATAA others(5): Show GATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG02083.hp1 HG00673.hp2 HG02055.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016	a0001c0001t0002g0173 a0001c0001t0010g0091 a0001c0001t0016g0224 a0001c0001t0002g0173 a0001c0001t0010g0091 a0001c0001t0016g0224	3	43	0.0698	-12	c.356 others(31): Show c.356-19768_356-19757delTATTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692416	TCCTTCCT others(5): Show TCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02818.hp1 others(2): Show HG02572.hp1 HG02723.hp2 HG02818.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0001t0041 a0002c0002t0016	a0001c0001t0002g0181 a0001c0001t0004g0135 a0001c0001t0029g0068 others(2): Show a0001c0001t0002g0181 a0001c0001t0004g0135 a0001c0001t0029g0068 a0001c0001t0041g0138 a0002c0002t0016g0220	5	250	0.0200	-12	c.356 others(31): Show c.356-27140_356-27129delGAGGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02559.hp2 others(3): Show HG01257.hp2 HG01258.hp1 HG02559.hp2 HG02895.hp2 NA18957.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0027	a0001c0001t0001g0029 a0001c0001t0001g0155 a0001c0001t0003g0053 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0155 a0001c0001t0003g0053 a0001c0001t0007g0196 a0001c0001t0018g0168 a0001c0001t0027g0171	6	21	0.2857	-12	c.356 others(31): Show c.356-51389_356-51378delTGTGTGTGTGTG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	20	0.0500	-12	c.356 others(31): Show c.356-57284_356-57273delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105724573	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02135.hp1 NA18995.hp2 others(1): Show HG01261.hp1 HG02135.hp1 NA18995.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0049	a0001c0001t0002g0108 a0001c0001t0011g0143 a0001c0001t0019g0247 others(1): Show a0001c0001t0002g0108 a0001c0001t0011g0143 a0001c0001t0019g0247 a0001c0001t0049g0087	4	52	0.0769	-12	c.356 others(31): Show c.356-59297_356-59286delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729301	GAATAAAT others(5): Show GAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03130.hp1 others(2): Show HG02630.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0024 a0002c0002t0026 a0006c0009t0001	a0001c0001t0004g0219 a0001c0001t0014g0069 a0001c0001t0024g0114 others(2): Show a0001c0001t0004g0219 a0001c0001t0014g0069 a0001c0001t0024g0114 a0002c0002t0026g0212 a0006c0009t0001g0096	5	87	0.0575	-12	c.355 others(31): Show c.355+59291_355+59302delTATTTATTTATT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105737528	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp2 others(71): Show HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG03209.hp2 HG03239.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA18989.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0050 a0001c0001t0053 a0001c0008t0005 a0002c0002t0016	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 others(71): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0002g0185 a0001c0001t0002g0214 a0001c0001t0003g0010 a0001c0001t0003g0053 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0172 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0130 a0001c0001t0005g0165 a0001c0001t0006g0025 a0001c0001t0006g0158 a0001c0001t0006g0248 a0001c0001t0007g0001 a0001c0001t0007g0022 a0001c0001t0007g0034 a0001c0001t0008g0058 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0094 a0001c0001t0008g0178 a0001c0001t0008g0229 a0001c0001t0009g0013 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0011g0012 a0001c0001t0011g0151 a0001c0001t0011g0169 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0013g0019 a0001c0001t0014g0061 a0001c0001t0014g0139 a0001c0001t0015g0113 a0001c0001t0015g0213 a0001c0001t0016g0224 a0001c0001t0018g0168 a0001c0001t0025g0215 a0001c0001t0027g0171 a0001c0001t0028g0041 a0001c0001t0029g0068 a0001c0001t0036g0190 a0001c0001t0037g0195 a0001c0001t0038g0160 a0001c0001t0039g0105 a0001c0001t0041g0138 a0001c0001t0044g0148 a0001c0001t0050g0252 a0001c0001t0053g0018 a0001c0008t0005g0164 a0002c0002t0016g0220	74	97	0.7629	-12	c.355 others(31): Show c.355+51064_355+51075delACACACACACAC		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790606	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01516.hp1 others(15): Show HG00323.hp1 HG01099.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02895.hp1 HG03041.hp1 HG03516.hp1 HG03579.hp2 HG03942.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0036 a0001c0001t0044 a0002c0002t0016 a0007c0010t0027	a0001c0001t0001g0070 a0001c0001t0001g0202 a0001c0001t0001g0223 others(15): Show a0001c0001t0001g0070 a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0201 a0001c0001t0004g0203 a0001c0001t0005g0233 a0001c0001t0006g0182 a0001c0001t0010g0051 a0001c0001t0012g0064 a0001c0001t0014g0061 a0001c0001t0021g0104 a0001c0001t0036g0190 a0001c0001t0044g0148 a0002c0002t0016g0200 a0007c0010t0027g0204	18	146	0.1233	-12	c.251 others(29): Show c.251-1910_251-1899delGATAGATAGATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860136	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01358.hp2 others(3): Show HG00741.hp2 HG01261.hp2 HG01358.hp2 HG01943.hp1 HG01952.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0042	a0001c0001t0004g0123 a0001c0001t0008g0062 a0001c0001t0008g0063 others(3): Show a0001c0001t0004g0123 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0012g0115 a0001c0001t0014g0061 a0001c0001t0042g0121	6	250	0.0240	-12	c.250 others(31): Show c.250+15664_250+15675delGTATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533872	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0000 a0001c0001t0053g0000	1	385	0.0026	-12	c.-42 others(23): Show c.-4240_-4229delAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3962		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03195.hp2 HG01070.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0000 a0001c0002t0005g0000	2	3	0.6667	-12	c.-14 others(23): Show c.-1442_-1431delTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7L3_chr17_44186805_44204884	44190349	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02965.hp1 others(8): Show HG02451.hp1 HG02647.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0018 a0001c0001t0006g0010 a0001c0001t0006g0088 a0001c0001t0001g0018 a0001c0001t0006g0010 a0001c0001t0006g0088	11	199	0.0553	-12	c.39 others(23): Show c.3902_*3913delTTTTTTTTTTTT		ATXN7L3	ENSG00000087152.16	transcript	ENST00000587097.6	protein_coding					1455		chr17	TogoVar
ATXN7_chr3_63858867_64008462	63863797	CGCGGCGG others(5): Show CGCGGCGGCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0031 a0002c0030t0031	a0002c0030t0031g0035 a0002c0030t0031g0035	1	285	0.0035	-12	c.-47 others(21): Show c.-471_-460delGCGGCGGCGGCG		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding					69		chr3	TogoVar
ATXN7_chr3_63858867_64008462	63865894	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0147 a0001c0001t0041g0147	1	106	0.0094	-12	c.-11 others(31): Show c.-111+1756_-111+1767delAAAAAAAAAAAA		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63952835	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0185 a0003c0004t0016g0185	1	66	0.0152	-12	c.499 others(27): Show c.499+372_499+383delTTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63998369	TGTATACA others(5): Show TGTATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG06807.hp1 HG01243.hp1 HG03486.hp2 HG06807.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0035 a0002c0002 a0018c0035	a0002c0002t0019 a0002c0002t0033 a0018c0035t0019 a0002c0002t0019 a0002c0002t0033 a0018c0035t0019	a0002c0002t0019g0015 a0002c0002t0033g0013 a0018c0035t0019g0014 a0002c0002t0019g0015 a0002c0002t0033g0013 a0018c0035t0019g0014	3	298	0.0101	-12	c.266 others(31): Show c.2662-1068_2662-1057delGTATACACACAC		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91297554	AAGGGAGG others(5): Show AAGGGAGGACCTC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0313 a0001c0002t0004g0313	1	356	0.0028	-12	c.598 others(27): Show c.598+418_598+429delGAGGTCCTCCCT		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9						chr9	TogoVar
AUNIP_chr1_25829006_25864457	25860896	TTATGTGT others(5): Show TTATGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	335	0.0030	-12	c.-15 others(23): Show c.-1551_-1540delCACACACACATA		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					1440		chr1	TogoVar
AUNIP_chr1_25829006_25864457	25860898	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01074.hp2 others(55): Show HG00642.hp2 HG00673.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01943.hp1 HG01978.hp1 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG02572.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp1 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19072.hp2 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0004g0010 a0001c0001t0004g0205 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0007g0009 a0001c0001t0007g0145 a0001c0001t0008g0140 a0001c0001t0013g0040 a0001c0001t0016g0147 a0006c0008t0001g0139	58	130	0.4462	-12	c.-15 others(23): Show c.-1553_-1542delCACACACACACA		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					1442		chr1	TogoVar

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