Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ATP6V1C2_chr2_10716630_10790110	10782829	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00741.hp2 others(3): Show HG00544.hp1 HG00544.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0002 a0002c0002t0002 a0002c0007t0009 a0001c0001t0002 a0002c0002t0002 a0002c0007t0009	a0001c0001t0002g0017 a0001c0001t0002g0264 a0001c0001t0002g0338 others(3): Show a0001c0001t0002g0017 a0001c0001t0002g0264 a0001c0001t0002g0338 a0002c0002t0002g0311 a0002c0007t0009g0028 a0002c0007t0009g0151	6	354	0.0170	-9	c.119 others(26): Show c.1195-319_1195-311delAAAAAAAAA		ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46510471	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00639.hp1 others(55): Show HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02698.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG04228.hp1 NA18943.hp2 NA18948.hp1 NA18952.hp1 NA18987.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19057.hp1 NA19077.hp2 NA19083.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0049 others(52): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0005g0149 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0006g0018 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0086 a0001c0001t0006g0195 a0001c0001t0007g0108 a0001c0001t0007g0110	58	410	0.1415	-9	c.15 others(20): Show c.1551_*1559delTTTTTTTTT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					1375		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53765451	AACAACAC others(2): Show AACAACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(46): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01169.hp1 HG01243.hp2 HG01433.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG03831.hp1 HG06807.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18994.hp1 NA19000.hp2 NA19012.hp2 NA19055.hp2 NA19064.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0070 others(46): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0006g0200 a0001c0002t0001g0172 a0003c0005t0001g0206	49	286	0.1713	-9	c.117 others(28): Show c.1175+4158_1175+4166delGTGTGTTGT		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13						chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53801216	GTAGATTT others(2): Show GTAGATTTTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02572.hp1 others(21): Show HG02055.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 others(21): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0280 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0085 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261	24	286	0.0839	-9	c.677 others(24): Show c.677+574_677+582delGAAAATCTA		ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	8/13						chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42555130	TATCTATC others(2): Show TATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG01496.hp2 others(1): Show HG01069.hp2 HG01109.hp2 HG01496.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0022 a0001c0001t0001 a0001c0002t0022	a0001c0001t0001g0087 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0002t0022g0001	4	310	0.0129	-9	c.141 others(26): Show c.1413+829_1413+837delTAGATAGAT		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36						chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25531245	TTATATAT others(2): Show TTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01074.hp1 others(39): Show HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01358.hp2 HG01981.hp1 HG02015.hp2 HG02258.hp2 HG02273.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18977.hp2 NA18986.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0012 a0001c0014 a0001c0021	a0001c0001t0002 a0001c0001t0015 a0001c0001t0024 others(33): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 a0001c0001t0054 a0001c0001t0059 a0001c0001t0064 a0001c0001t0066 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0039 a0001c0002t0063 a0001c0002t0070 a0001c0002t0071 a0001c0003t0052 a0001c0005t0044 a0001c0009t0038 a0001c0012t0002 a0001c0014t0034 a0001c0021t0055	a0001c0001t0002g0079 a0001c0001t0015g0016 a0001c0001t0024g0003 others(39): Show a0001c0001t0002g0079 a0001c0001t0015g0016 a0001c0001t0024g0003 a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0054g0103 a0001c0001t0059g0022 a0001c0001t0064g0072 a0001c0001t0066g0092 a0001c0001t0074g0116 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0060 a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0002g0037 a0001c0002t0003g0088 a0001c0002t0003g0120 a0001c0002t0004g0056 a0001c0002t0006g0119 a0001c0002t0009g0042 a0001c0002t0010g0118 a0001c0002t0016g0011 a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0022g0117 a0001c0002t0023g0013 a0001c0002t0028g0014 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0002t0039g0099 a0001c0002t0063g0050 a0001c0002t0070g0068 a0001c0002t0071g0096 a0001c0003t0052g0113 a0001c0005t0044g0018 a0001c0009t0038g0112 a0001c0012t0002g0110 a0001c0014t0034g0064 a0001c0021t0055g0077	42	122	0.3443	-9	c.420 others(24): Show c.420+612_420+620delATATATATG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531272	ATATATAT others(2): Show ATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01070.hp1 others(7): Show HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG02055.hp1 HG02055.hp2 HG02723.hp2 HG02886.hp1 HG03041.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0003t0062 a0001c0007t0001 a0001c0007t0005 a0001c0007t0007	a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0011g0061 others(7): Show a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0003t0062g0024 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0007t0007g0094	10	122	0.0820	-9	c.420 others(24): Show c.420+621_420+629delTTATATATG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25637092	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG02273.hp1 others(7): Show HG00741.hp1 HG02015.hp1 HG02273.hp1 HG02647.hp1 HG03453.hp2 HG03540.hp2 NA18952.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016	a0001c0001t0011 a0001c0001t0059 a0001c0002t0028 others(7): Show a0001c0001t0011 a0001c0001t0059 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0014 a0001c0003t0065 a0001c0016t0045	a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0002t0028g0014 others(7): Show a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0002t0028g0014 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0014g0111 a0001c0003t0065g0033 a0001c0016t0045g0105	10	122	0.0820	-9	c.221 others(30): Show c.2211+47414_2211+47422delAAAAAAAAA		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25837426	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02896.hp1 others(2): Show HG02257.hp2 HG02280.hp2 HG02896.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0026 a0001c0001t0035 others(2): Show a0001c0001t0005 a0001c0001t0026 a0001c0001t0035 a0001c0001t0050 a0001c0005t0012	a0001c0001t0005g0102 a0001c0001t0026g0090 a0001c0001t0035g0043 others(2): Show a0001c0001t0005g0102 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0001t0050g0025 a0001c0005t0012g0020	5	122	0.0410	-9	c.287 others(26): Show c.2877+142_2877+150delACACACACA		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	29/36						chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25882894	AGATGATG others(2): Show AGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG03486.hp2 others(2): Show HG02723.hp2 HG03453.hp2 HG03486.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0030 a0001c0002t0028 a0001c0003t0008 others(2): Show a0001c0001t0030 a0001c0002t0028 a0001c0003t0008 a0001c0003t0052 a0001c0007t0007	a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0003t0008g0010 others(2): Show a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0003t0008g0010 a0001c0003t0052g0113 a0001c0007t0007g0094	5	122	0.0410	-9	c.318 others(30): Show c.3183+20524_3183+20532delATGATGATG		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57653682	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00741.hp1 others(30): Show HG00280.hp1 HG00323.hp1 HG00741.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03831.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0019 a0010c0010 a0001c0001 a0001c0019 a0010c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0019t0031 a0010c0010t0006	a0001c0001t0001g0107 a0001c0001t0006g0023 a0001c0001t0006g0030 others(30): Show a0001c0001t0001g0107 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0082 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0106 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0294 a0001c0001t0015g0156 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0015g0187 a0001c0001t0027g0307 a0001c0001t0027g0310 a0001c0019t0031g0062 a0010c0010t0006g0028	33	314	0.1051	-9	c.301 others(26): Show c.3015+301_3015+309delAAAAAAAAA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	24/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57752217	AATAATAA others(2): Show AATAATAATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02004.hp1 HG03490.hp1 others(1): Show HG01943.hp1 HG02004.hp1 HG03490.hp1 HG04199.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0010c0010t0006	a0001c0001t0001g0014 a0001c0001t0003g0265 a0001c0001t0006g0082 others(1): Show a0001c0001t0001g0014 a0001c0001t0003g0265 a0001c0001t0006g0082 a0010c0010t0006g0028	4	314	0.0127	-9	c.-25 others(28): Show c.-25-20394_-25-20386delCATTATTAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 NA18995.hp2 others(2): Show HG01099.hp2 HG01257.hp2 NA18995.hp2 NA19000.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0021 others(2): Show a0001c0001 a0002c0002 a0002c0021 a0003c0003 a0010c0012	a0001c0001t0002 a0002c0002t0002 a0002c0021t0002 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0021t0002 a0003c0003t0004 a0010c0012t0001	a0001c0001t0002g0072 a0002c0002t0002g0028 a0002c0021t0002g0039 others(2): Show a0001c0001t0002g0072 a0002c0002t0002g0028 a0002c0021t0002g0039 a0003c0003t0004g0082 a0010c0012t0001g0096	5	254	0.0197	-9	c.28+ others(24): Show c.28+8664_28+8672delAAAAAAAAA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51637306	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02647.hp1 others(3): Show HG00741.hp2 HG02109.hp1 HG02647.hp1 HG02809.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 others(1): Show a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0001c0003t0032	a0001c0003t0007g0130 a0001c0003t0010g0112 a0001c0003t0010g0155 others(3): Show a0001c0003t0007g0130 a0001c0003t0010g0112 a0001c0003t0010g0155 a0001c0003t0010g0204 a0001c0003t0022g0131 a0001c0003t0032g0107	6	312	0.0192	-9	c.166 others(28): Show c.1668+2028_1668+2036delTTTTTTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51726889	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02976.hp1 others(3): Show HG00741.hp2 HG02109.hp1 HG02976.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0016 a0001c0003 a0001c0004 a0001c0016	a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 others(3): Show a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0001c0003t0031 a0001c0004t0029 a0001c0016t0010	a0001c0003t0007g0130 a0001c0003t0010g0228 a0001c0003t0022g0131 others(3): Show a0001c0003t0007g0130 a0001c0003t0010g0228 a0001c0003t0022g0131 a0001c0003t0031g0222 a0001c0004t0029g0164 a0001c0016t0010g0061	6	312	0.0192	-9	c.214 others(24): Show c.214-966_214-958delAAAAAAAAA		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	2/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51753454	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01081.hp1 others(44): Show HG00639.hp2 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA19056.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0016 a0001c0018	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(27): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0034 a0001c0001t0036 a0001c0001t0049 a0001c0001t0077 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0032 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0022 a0001c0003t0027 a0001c0003t0031 a0001c0003t0051 a0001c0003t0054 a0001c0003t0060 a0001c0004t0029 a0001c0015t0015 a0001c0016t0010 a0001c0018t0009	a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0007g0267 others(44): Show a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0007g0267 a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0012g0132 a0001c0001t0013g0001 a0001c0001t0013g0060 a0001c0001t0013g0134 a0001c0001t0013g0136 a0001c0001t0024g0007 a0001c0001t0034g0159 a0001c0001t0036g0096 a0001c0001t0049g0310 a0001c0001t0077g0008 a0001c0002t0002g0005 a0001c0002t0007g0006 a0001c0002t0007g0016 a0001c0002t0011g0133 a0001c0002t0016g0150 a0001c0002t0032g0044 a0001c0003t0007g0130 a0001c0003t0010g0155 a0001c0003t0010g0204 a0001c0003t0010g0228 a0001c0003t0012g0085 a0001c0003t0012g0086 a0001c0003t0012g0087 a0001c0003t0012g0156 a0001c0003t0014g0152 a0001c0003t0014g0153 a0001c0003t0014g0157 a0001c0003t0014g0158 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0015g0151 a0001c0003t0022g0131 a0001c0003t0027g0135 a0001c0003t0031g0120 a0001c0003t0031g0222 a0001c0003t0051g0118 a0001c0003t0054g0119 a0001c0003t0060g0088 a0001c0004t0029g0164 a0001c0015t0015g0017 a0001c0016t0010g0061 a0001c0018t0009g0154	47	312	0.1506	-9	c.68+ others(26): Show c.68+14839_68+14847delGTTGTTGTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79348789	CTGGCTAA others(2): Show CTGGCTAACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	-9	c.290 others(26): Show c.2903+598_2903+606delTAACATGGC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249926	AAAAAAAA others(2): Show AAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00741.hp2 others(8): Show HG00408.hp1 HG00621.hp2 HG00741.hp2 HG01109.hp1 HG02148.hp1 HG02886.hp2 NA18948.hp1 NA18948.hp2 NA18994.hp2 NA18997.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0022 a0001c0003t0002 others(2): Show a0001c0002t0002 a0001c0002t0022 a0001c0003t0002 a0002c0001t0001 a0002c0001t0003	a0001c0002t0002g0014 a0001c0002t0002g0130 a0001c0002t0022g0059 others(5): Show a0001c0002t0002g0014 a0001c0002t0002g0130 a0001c0002t0022g0059 a0001c0003t0002g0062 a0002c0001t0001g0001 a0002c0001t0001g0034 a0002c0001t0001g0132 a0002c0001t0003g0158	11	358	0.0307	-9	c.-62 others(16): Show c.-62_-54delGTTTTTTTT		ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding					39		chr5	TogoVar
ATRAID_chr2_27207041_27222157	27220484	ACAAAAAA others(2): Show ACAAAAAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01167.hp1 others(26): Show HG00639.hp1 HG00733.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01346.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0003g0003 others(4): Show a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0003g0003 a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0028	29	302	0.0960	-9	c.35 others(20): Show c.3537_*3545delCAAAAAATT		ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding					3328		chr2	TogoVar
ATRNL1_chr10_115088365_115953999	115177895	GTTTTTTT others(2): Show GTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 NA19240.hp1 HG01081.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0043 a0001c0001t0003 a0001c0001t0015 a0001c0001t0043	a0001c0001t0003g0093 a0001c0001t0015g0064 a0001c0001t0043g0094 a0001c0001t0003g0093 a0001c0001t0015g0064 a0001c0001t0043g0094	3	128	0.0234	-9	c.134 others(28): Show c.1348+6620_1348+6628delGTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115213645	GTCTACAC others(2): Show GTCTACACTA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0033 a0001c0001t0008 a0001c0006t0033	a0001c0001t0008g0014 a0001c0006t0033g0035 a0001c0001t0008g0014 a0001c0006t0033g0035	2	128	0.0156	-9	c.134 others(28): Show c.1349-2048_1349-2040delACACTATCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115291977	GCCATCTG others(2): Show GCCATCTGGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01515.hp2 HG01943.hp1 others(9): Show HG01258.hp1 HG01515.hp2 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG03239.hp2 HG03834.hp2 HG06807.hp2 NA18959.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0029 a0001c0002t0028 a0001c0003t0002 a0001c0006t0009 a0001c0013t0009	a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 others(9): Show a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0029g0075 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0006t0009g0038 a0001c0013t0009g0078	12	128	0.0938	-9	c.241 others(28): Show c.2415+5583_2415+5591delATCTGGTCC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115492586	TTATATAT others(2): Show TTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG02622.hp2 HG00735.hp2 HG00738.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0020g0115 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0020g0115	3	128	0.0234	-9	c.365 others(30): Show c.3654+23269_3654+23277delTATATTATA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(2): Show GATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(18): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG01169.hp1 HG01358.hp1 HG01496.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02976.hp1 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03942.hp1 NA18522.hp2 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA20805.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0017	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0004c0011 a0004c0016 a0007c0015 a0017c0032	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 a0001c0007t0006 a0001c0013t0008 a0004c0011t0004 a0004c0011t0008 a0004c0016t0015 a0007c0015t0004 a0007c0015t0024 a0017c0032t0001	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0010g0025 a0001c0002t0003g0083 a0001c0002t0008g0142 a0001c0002t0017g0079 a0001c0007t0006g0201 a0001c0007t0006g0203 a0001c0013t0008g0171 a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 a0004c0016t0015g0166 a0007c0015t0004g0026 a0007c0015t0024g0137 a0017c0032t0001g0195	21	220	0.0955	-9	c.411 others(28): Show c.411-30522_411-30514delATAATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3602963	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02976.hp1 others(3): Show HG02615.hp1 HG02647.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0011 a0004c0016 a0001c0003 a0004c0011 a0004c0016	a0001c0003t0010 a0001c0003t0035 a0004c0011t0004 others(2): Show a0001c0003t0010 a0001c0003t0035 a0004c0011t0004 a0004c0011t0008 a0004c0016t0015	a0001c0003t0010g0206 a0001c0003t0035g0205 a0004c0011t0004g0165 others(3): Show a0001c0003t0010g0206 a0001c0003t0035g0205 a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 a0004c0016t0015g0166	6	220	0.0273	-9	c.364 others(28): Show c.3644-1118_3644-1110delAAAAAAAAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02280.hp1 others(6): Show HG01496.hp1 HG01891.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02922.hp2 HG03209.hp2 HG03540.hp2 NA18522.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0009	a0001c0002 a0001c0013 a0002c0004 others(5): Show a0001c0002 a0001c0013 a0002c0004 a0004c0011 a0007c0015 a0007c0027 a0008c0030 a0009c0020	a0001c0002t0008 a0001c0013t0008 a0002c0004t0011 others(5): Show a0001c0002t0008 a0001c0013t0008 a0002c0004t0011 a0004c0011t0008 a0007c0015t0024 a0007c0027t0014 a0008c0030t0011 a0009c0020t0014	a0001c0002t0008g0142 a0001c0013t0008g0171 a0002c0004t0011g0152 others(6): Show a0001c0002t0008g0142 a0001c0013t0008g0171 a0002c0004t0011g0152 a0004c0011t0008g0168 a0004c0011t0008g0173 a0007c0015t0024g0137 a0007c0027t0014g0029 a0008c0030t0011g0093 a0009c0020t0014g0209	9	220	0.0409	-9	c.386 others(28): Show c.3864-3355_3864-3347delTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77559449	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18964.hp2 NA19056.hp1 others(1): Show HG02083.hp1 NA18964.hp2 NA19056.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0044 a0002c0002t0001g0061 others(1): Show a0002c0002t0001g0018 a0002c0002t0001g0044 a0002c0002t0001g0061 a0002c0002t0001g0062	4	218	0.0184	-9	c.632 others(26): Show c.6327-612_6327-604delAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02257.hp1 HG02451.hp2 others(10): Show HG00558.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02723.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp2 NA19001.hp1 NA19074.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0003g0084 others(10): Show a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0115 a0001c0001t0003g0138 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0200 a0001c0001t0004g0186 a0001c0001t0017g0183 a0002c0002t0001g0054	13	218	0.0596	-9	c.621 others(28): Show c.6217+4242_6217+4250delTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77634232	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	218	0.0046	-9	c.480 others(26): Show c.4809+353_4809+361delTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	17/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02970.hp2 others(1): Show HG01243.hp1 HG02055.hp1 HG02970.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0005t0005	a0001c0001t0005g0213 a0001c0001t0008g0077 a0001c0001t0021g0078 others(1): Show a0001c0001t0005g0213 a0001c0001t0008g0077 a0001c0001t0021g0078 a0001c0005t0005g0076	4	218	0.0184	-9	c.133 others(26): Show c.133+1012_133+1020delAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77776926	AAACTCTT others(2): Show AAACTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0203 a0006c0008t0003g0203	1	218	0.0046	-9	c.20+ others(24): Show c.20+9047_20+9055delGAAAGAGTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(2): Show CTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG00735.hp2 others(20): Show HG00597.hp2 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01358.hp2 HG01934.hp1 HG02135.hp2 HG02165.hp1 HG02683.hp2 HG02976.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18985.hp2 NA18991.hp1 NA19006.hp1 NA19057.hp2 NA19082.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0090 a0001c0001t0001g0110 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0143 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0182 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196	23	322	0.0714	-9	c.589 others(24): Show c.5898+74_5898+82delATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATXN1_chr6_16294112_16766460	16316865	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02895.hp1 HG02970.hp2 others(2): Show HG00642.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1	a0005 a0009 a0005 a0009	a0005c0006 a0005c0060 a0009c0016 a0005c0006 a0005c0060 a0009c0016	a0005c0006t0003 a0005c0006t0006 a0005c0060t0006 others(1): Show a0005c0006t0003 a0005c0006t0006 a0005c0060t0006 a0009c0016t0001	a0005c0006t0003g0057 a0005c0006t0003g0166 a0005c0006t0006g0010 others(2): Show a0005c0006t0003g0057 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0060t0006g0132 a0009c0016t0001g0034	5	182	0.0275	-9	c.191 others(28): Show c.1917+9520_1917+9528delAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327678	ATGCTGAT others(2): Show ATGCTGATGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(36): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG02004.hp2 HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18944.hp2 NA18955.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19240.hp1 NA20300.hp2	a0002 a0005 a0014 others(1): Show a0002 a0005 a0014 a0026	a0002c0002 a0002c0004 a0005c0006 others(3): Show a0002c0002 a0002c0004 a0005c0006 a0005c0060 a0014c0017 a0026c0061	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0014c0017t0004 a0014c0017t0025 a0026c0061t0036	a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 others(36): Show a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0026c0061t0036g0095	39	182	0.2143	-9	c.624 others(16): Show c.624_632delGCATCAGCA	p.Gln others(13): Show p.Gln208_Gln210del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1524/10557	624/2448	208/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16346721	GCAGCCCT others(2): Show GCAGCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02615.hp1 others(7): Show HG01884.hp2 HG02257.hp1 HG02615.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 NA19240.hp1 NA20300.hp2	a0005 a0007 a0005 a0007	a0005c0006 a0005c0060 a0007c0009 a0005c0006 a0005c0060 a0007c0009	a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 others(2): Show a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0007c0009t0049	a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 others(7): Show a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0007c0009t0049g0005	10	182	0.0550	-9	c.-16 others(30): Show c.-160-18260_-160-18252delTGAGGGCTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16372988	AGTAGAGA others(2): Show AGTAGAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(85): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp2 NA20752.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0018 a0019 a0021 a0023 a0025 a0026 a0027 a0028 a0030 a0031 a0033 a0037 a0038	a0001c0001 a0001c0027 a0001c0028 others(33): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0004c0015 a0004c0023 a0006c0008 a0007c0009 a0008c0012 a0008c0024 a0009c0016 a0010c0010 a0010c0039 a0011c0007 a0012c0011 a0014c0017 a0015c0030 a0015c0055 a0016c0014 a0018c0054 a0019c0026 a0021c0021 a0023c0035 a0025c0062 a0026c0061 a0027c0049 a0028c0053 a0030c0058 a0031c0048 a0033c0044 a0037c0032 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0027t0001 a0001c0028t0015 a0001c0029t0048 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0013 a0003c0003t0021 a0003c0003t0022 a0003c0050t0045 a0004c0015t0001 a0004c0023t0009 a0006c0008t0010 a0006c0008t0011 a0007c0009t0002 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0010c0010t0006 a0010c0039t0001 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0012c0011t0023 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0016c0014t0007 a0018c0054t0001 a0019c0026t0001 a0019c0026t0019 a0021c0021t0004 a0021c0021t0014 a0023c0035t0001 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0030c0058t0018 a0031c0048t0042 a0033c0044t0024 a0037c0032t0002 a0038c0033t0002	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 others(85): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0029t0048g0031 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0003c0003t0001g0039 a0003c0003t0001g0042 a0003c0003t0001g0049 a0003c0003t0001g0109 a0003c0003t0002g0120 a0003c0003t0013g0033 a0003c0003t0021g0003 a0003c0003t0022g0119 a0003c0050t0045g0147 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0023t0009g0110 a0006c0008t0010g0038 a0006c0008t0011g0053 a0007c0009t0002g0126 a0008c0012t0005g0092 a0008c0024t0001g0143 a0009c0016t0001g0034 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0010c0039t0001g0181 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0012c0011t0023g0023 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0016c0014t0007g0155 a0018c0054t0001g0115 a0019c0026t0001g0098 a0019c0026t0019g0001 a0021c0021t0004g0069 a0021c0021t0014g0082 a0023c0035t0001g0064 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0030c0058t0018g0054 a0031c0048t0042g0026 a0033c0044t0024g0048 a0037c0032t0002g0170 a0038c0033t0002g0004	88	182	0.4835	-9	c.-16 others(30): Show c.-160-44527_-160-44519delATTCTCTAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01255.hp2 others(5): Show HG00423.hp1 HG00438.hp1 HG01255.hp2 HG02056.hp2 HG02622.hp1 HG03098.hp2 HG03139.hp1 HG06807.hp1	a0002 a0004 a0006 others(4): Show a0002 a0004 a0006 a0007 a0009 a0013 a0032	a0002c0002 a0004c0015 a0006c0008 others(4): Show a0002c0002 a0004c0015 a0006c0008 a0007c0009 a0009c0025 a0013c0013 a0032c0045	a0002c0002t0008 a0004c0015t0001 a0006c0008t0002 others(5): Show a0002c0002t0008 a0004c0015t0001 a0006c0008t0002 a0006c0008t0011 a0007c0009t0002 a0009c0025t0031 a0013c0013t0016 a0032c0045t0018	a0002c0002t0008g0081 a0004c0015t0001g0157 a0006c0008t0002g0137 others(5): Show a0002c0002t0008g0081 a0004c0015t0001g0157 a0006c0008t0002g0137 a0006c0008t0011g0053 a0007c0009t0002g0126 a0009c0025t0031g0058 a0013c0013t0016g0153 a0032c0045t0018g0059	8	182	0.0440	-9	c.-16 others(30): Show c.-160-73781_-160-73773delAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16480154	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG02132.hp2 others(17): Show HG00408.hp1 HG00423.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02451.hp2 HG02602.hp1 HG03492.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18973.hp2 NA19009.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0011 a0012 a0014 a0020 a0023 a0027 a0031	a0001c0001 a0002c0002 a0002c0004 others(12): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0011c0007 a0012c0011 a0014c0017 a0020c0020 a0023c0034 a0027c0049 a0031c0048	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(12): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0003c0003t0037 a0004c0005t0002 a0004c0015t0001 a0004c0023t0009 a0004c0031t0002 a0011c0007t0002 a0012c0011t0004 a0014c0017t0004 a0020c0020t0032 a0023c0034t0002 a0027c0049t0003 a0031c0048t0042	a0001c0001t0001g0037 a0001c0001t0001g0105 a0002c0002t0002g0089 others(17): Show a0001c0001t0001g0037 a0001c0001t0001g0105 a0002c0002t0002g0089 a0002c0004t0001g0084 a0003c0003t0037g0150 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0160 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0023t0009g0110 a0004c0031t0002g0101 a0011c0007t0002g0040 a0011c0007t0002g0097 a0012c0011t0004g0161 a0014c0017t0004g0171 a0020c0020t0032g0099 a0023c0034t0002g0124 a0027c0049t0003g0149 a0031c0048t0042g0026	20	182	0.1099	-9	c.-16 others(28): Show c.-161+5809_-161+5817delTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714188	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp2 others(38): Show HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01978.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG03098.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18952.hp1 NA18957.hp2 NA18986.hp1 NA19009.hp1 NA19060.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0022 a0023 a0036	a0001c0001 a0001c0028 a0002c0002 others(23): Show a0001c0001 a0001c0028 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0005c0006 a0006c0008 a0006c0043 a0007c0009 a0008c0024 a0009c0016 a0009c0025 a0009c0042 a0012c0011 a0013c0038 a0014c0017 a0015c0055 a0016c0014 a0017c0022 a0018c0056 a0020c0020 a0022c0019 a0023c0034 a0036c0037	a0001c0001t0001 a0001c0001t0029 a0001c0001t0044 others(27): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0044 a0001c0028t0015 a0002c0002t0003 a0002c0002t0008 a0002c0002t0043 a0002c0004t0001 a0003c0003t0022 a0004c0005t0002 a0004c0015t0001 a0005c0006t0003 a0006c0008t0002 a0006c0043t0010 a0007c0009t0002 a0008c0024t0001 a0009c0016t0028 a0009c0025t0031 a0009c0042t0011 a0012c0011t0004 a0013c0038t0034 a0014c0017t0025 a0015c0055t0004 a0016c0014t0027 a0017c0022t0001 a0018c0056t0007 a0020c0020t0026 a0022c0019t0001 a0023c0034t0002 a0036c0037t0001	a0001c0001t0001g0037 a0001c0001t0001g0123 a0001c0001t0001g0158 others(38): Show a0001c0001t0001g0037 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0029g0145 a0001c0001t0044g0118 a0001c0028t0015g0125 a0002c0002t0003g0133 a0002c0002t0008g0063 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0043g0175 a0002c0004t0001g0073 a0002c0004t0001g0174 a0002c0004t0001g0182 a0003c0003t0022g0119 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0015t0001g0176 a0005c0006t0003g0070 a0006c0008t0002g0137 a0006c0043t0010g0128 a0007c0009t0002g0126 a0007c0009t0002g0164 a0008c0024t0001g0143 a0009c0016t0028g0141 a0009c0025t0031g0058 a0009c0042t0011g0047 a0012c0011t0004g0144 a0013c0038t0034g0139 a0014c0017t0025g0142 a0015c0055t0004g0067 a0016c0014t0027g0134 a0017c0022t0001g0104 a0018c0056t0007g0011 a0020c0020t0026g0088 a0022c0019t0001g0127 a0023c0034t0002g0124 a0036c0037t0001g0117	41	182	0.2253	-9	c.-61 others(30): Show c.-615+39036_-615+39044delTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822934	GGCCCCCC others(2): Show GGCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG03098.hp2 others(3): Show HG02451.hp1 HG02630.hp2 HG03098.hp2 NA18522.hp2 NA18961.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0002t0001g0007 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0002t0001g0007 a0001c0002t0001g0019	6	382	0.0157	-9	c.-32 others(18): Show c.-325_-317delGCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					64		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111598969	CTGCTGCT others(2): Show CTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02896.hp1 HG02897.hp2 HG02257.hp1 HG02896.hp1 HG02897.hp2	a0005 a0008 a0005 a0008	a0005c0009 a0008c0023 a0005c0009 a0008c0023	a0005c0009t0001 a0008c0023t0003 a0005c0009t0001 a0008c0023t0003	a0005c0009t0001g0001 a0005c0009t0001g0002 a0008c0023t0003g0119 a0005c0009t0001g0001 a0005c0009t0001g0002 a0008c0023t0003g0119	3	298	0.0101	-9	c.57_ others(14): Show c.57_65delACAGCAGCA	p.Gln others(11): Show p.Gln20_Gln22del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	346/4347	57/3468	19/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92081465	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(149): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0003 a0004 a0006 others(35): Show a0003 a0004 a0006 a0008 a0009 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0054	a0003c0003 a0004c0026 a0006c0005 others(37): Show a0003c0003 a0004c0026 a0006c0005 a0006c0051 a0008c0008 a0009c0009 a0013c0012 a0014c0015 a0015c0014 a0016c0025 a0017c0019 a0018c0024 a0018c0060 a0019c0022 a0020c0021 a0021c0023 a0026c0030 a0027c0039 a0028c0037 a0029c0035 a0030c0032 a0031c0033 a0032c0034 a0033c0036 a0034c0038 a0037c0059 a0038c0058 a0039c0057 a0040c0055 a0041c0054 a0042c0052 a0043c0049 a0044c0047 a0045c0045 a0046c0046 a0047c0048 a0048c0050 a0049c0053 a0050c0056 a0054c0044	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(88): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 a0003c0003t0034 a0003c0003t0064 a0003c0003t0067 a0003c0003t0074 a0003c0003t0077 a0004c0026t0054 a0004c0026t0055 a0004c0026t0056 a0004c0026t0057 a0006c0005t0001 a0006c0005t0002 a0006c0005t0004 a0006c0005t0016 a0006c0005t0060 a0006c0051t0073 a0008c0008t0002 a0008c0008t0009 a0008c0008t0066 a0009c0009t0002 a0009c0009t0004 a0009c0009t0011 a0009c0009t0063 a0009c0009t0072 a0009c0009t0079 a0013c0012t0002 a0013c0012t0009 a0014c0015t0026 a0014c0015t0035 a0014c0015t0036 a0014c0015t0093 a0015c0014t0001 a0015c0014t0002 a0015c0014t0011 a0015c0014t0058 a0015c0014t0059 a0015c0014t0065 a0016c0025t0080 a0016c0025t0081 a0016c0025t0082 a0016c0025t0083 a0017c0019t0013 a0017c0019t0031 a0017c0019t0088 a0018c0024t0002 a0018c0024t0010 a0018c0024t0069 a0018c0060t0009 a0019c0022t0013 a0019c0022t0014 a0019c0022t0031 a0020c0021t0002 a0020c0021t0033 a0020c0021t0061 a0021c0023t0002 a0021c0023t0004 a0021c0023t0033 a0021c0023t0034 a0026c0030t0002 a0026c0030t0011 a0027c0039t0026 a0028c0037t0014 a0029c0035t0013 a0029c0035t0085 a0030c0032t0004 a0031c0033t0009 a0031c0033t0032 a0032c0034t0009 a0032c0034t0032 a0033c0036t0062 a0033c0036t0071 a0034c0038t0002 a0034c0038t0011 a0037c0059t0002 a0038c0058t0070 a0039c0057t0078 a0040c0055t0075 a0041c0054t0076 a0042c0052t0014 a0043c0049t0084 a0044c0047t0087 a0045c0045t0086 a0046c0046t0009 a0047c0048t0009 a0048c0050t0004 a0049c0053t0068 a0050c0056t0011 a0054c0044t0002	a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(145): Show a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0080 a0003c0003t0002g0036 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0066 a0003c0003t0002g0082 a0003c0003t0002g0099 a0003c0003t0002g0100 a0003c0003t0002g0103 a0003c0003t0002g0321 a0003c0003t0002g0322 a0003c0003t0004g0001 a0003c0003t0004g0040 a0003c0003t0004g0074 a0003c0003t0004g0081 a0003c0003t0004g0181 a0003c0003t0011g0318 a0003c0003t0034g0085 a0003c0003t0064g0043 a0003c0003t0067g0106 a0003c0003t0074g0364 a0003c0003t0077g0101 a0004c0026t0054g0017 a0004c0026t0055g0018 a0004c0026t0056g0016 a0004c0026t0057g0386 a0006c0005t0001g0003 a0006c0005t0001g0063 a0006c0005t0001g0069 a0006c0005t0001g0075 a0006c0005t0001g0217 a0006c0005t0002g0065 a0006c0005t0002g0073 a0006c0005t0002g0078 a0006c0005t0004g0002 a0006c0005t0004g0051 a0006c0005t0004g0052 a0006c0005t0004g0057 a0006c0005t0004g0084 a0006c0005t0016g0070 a0006c0005t0060g0088 a0006c0051t0073g0116 a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 a0008c0008t0002g0324 a0008c0008t0002g0325 a0008c0008t0002g0326 a0008c0008t0002g0347 a0008c0008t0009g0030 a0008c0008t0009g0067 a0008c0008t0009g0086 a0008c0008t0009g0087 a0008c0008t0066g0068 a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0004g0033 a0009c0009t0004g0053 a0009c0009t0004g0055 a0009c0009t0004g0059 a0009c0009t0004g0083 a0009c0009t0011g0147 a0009c0009t0063g0281 a0009c0009t0072g0034 a0009c0009t0079g0054 a0013c0012t0002g0037 a0013c0012t0002g0041 a0013c0012t0002g0042 a0013c0012t0002g0045 a0013c0012t0002g0046 a0013c0012t0002g0047 a0013c0012t0002g0049 a0013c0012t0009g0044 a0014c0015t0026g0184 a0014c0015t0035g0186 a0014c0015t0035g0188 a0014c0015t0036g0185 a0014c0015t0036g0187 a0014c0015t0093g0387 a0015c0014t0001g0071 a0015c0014t0002g0060 a0015c0014t0011g0105 a0015c0014t0058g0102 a0015c0014t0059g0210 a0015c0014t0065g0050 a0016c0025t0080g0107 a0016c0025t0081g0110 a0016c0025t0082g0108 a0016c0025t0083g0109 a0017c0019t0013g0156 a0017c0019t0013g0157 a0017c0019t0013g0159 a0017c0019t0031g0154 a0017c0019t0088g0189 a0018c0024t0002g0072 a0018c0024t0002g0092 a0018c0024t0010g0035 a0018c0024t0069g0169 a0018c0060t0009g0160 a0019c0022t0013g0130 a0019c0022t0014g0113 a0019c0022t0014g0115 a0019c0022t0031g0155 a0020c0021t0002g0010 a0020c0021t0002g0163 a0020c0021t0033g0168 a0020c0021t0061g0011 a0021c0023t0002g0079 a0021c0023t0004g0048 a0021c0023t0033g0162 a0021c0023t0034g0122 a0026c0030t0002g0031 a0026c0030t0011g0146 a0026c0030t0011g0148 a0027c0039t0026g0128 a0027c0039t0026g0129 a0028c0037t0014g0111 a0028c0037t0014g0114 a0029c0035t0013g0158 a0029c0035t0085g0195 a0030c0032t0004g0038 a0030c0032t0004g0039 a0031c0033t0009g0166 a0031c0033t0032g0278 a0032c0034t0009g0171 a0032c0034t0032g0279 a0033c0036t0062g0174 a0033c0036t0071g0120 a0034c0038t0002g0165 a0034c0038t0011g0164 a0037c0059t0002g0280 a0038c0058t0070g0172 a0039c0057t0078g0117 a0040c0055t0075g0295 a0041c0054t0076g0153 a0042c0052t0014g0112 a0043c0049t0084g0118 a0044c0047t0087g0191 a0045c0045t0086g0190 a0046c0046t0009g0167 a0047c0048t0009g0170 a0048c0050t0004g0032 a0049c0053t0068g0104 a0050c0056t0011g0317 a0054c0044t0002g0056	152	402	0.3781	-9	c.776 others(24): Show c.776-413_776-405delTTTTTTTTT		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	8/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02165.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG02165.hp1 HG02647.hp1 HG03225.hp1 HG03239.hp1 NA18994.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0002c0002t0022	a0001c0001t0001g0005 a0001c0001t0002g0016 a0001c0001t0004g0124 others(5): Show a0001c0001t0001g0005 a0001c0001t0002g0016 a0001c0001t0004g0124 a0001c0001t0006g0034 a0001c0001t0008g0216 a0001c0001t0012g0028 a0001c0001t0012g0232 a0002c0002t0022g0066	8	252	0.0318	-9	c.151 others(26): Show c.1517+661_1517+669delAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01069.hp2 others(61): Show HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0002c0002t0022 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0059 a0007c0009t0007	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0119 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0119 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0002g0245 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0235 a0001c0001t0004g0084 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0211 a0001c0001t0005g0014 a0001c0001t0005g0182 a0001c0001t0006g0024 a0001c0001t0006g0116 a0001c0001t0006g0197 a0001c0001t0007g0144 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0008g0075 a0001c0001t0008g0216 a0001c0001t0009g0013 a0001c0001t0012g0115 a0001c0001t0012g0122 a0001c0001t0012g0244 a0001c0001t0013g0156 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0014g0166 a0001c0001t0015g0193 a0001c0001t0016g0061 a0001c0001t0016g0139 a0001c0001t0016g0176 a0001c0001t0017g0195 a0001c0001t0017g0213 a0001c0001t0018g0058 a0001c0001t0019g0062 a0001c0001t0019g0178 a0001c0001t0020g0169 a0001c0001t0021g0130 a0001c0001t0021g0184 a0001c0001t0022g0224 a0001c0001t0025g0104 a0001c0001t0025g0240 a0001c0001t0027g0008 a0001c0001t0027g0134 a0001c0001t0033g0040 a0001c0001t0035g0151 a0001c0001t0039g0180 a0001c0001t0044g0110 a0001c0001t0046g0138 a0001c0001t0053g0031 a0001c0001t0055g0252 a0001c0001t0057g0229 a0001c0001t0060g0192 a0002c0002t0022g0066 a0002c0002t0022g0220 a0002c0002t0030g0208 a0002c0002t0032g0226 a0002c0002t0033g0221 a0002c0002t0059g0200 a0007c0009t0007g0096	64	252	0.2540	-9	c.356 others(26): Show c.356-5825_356-5817delTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105685044	GATAATAA others(2): Show GATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00642.hp1 others(34): Show HG00280.hp2 HG00558.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01516.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02895.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03669.hp1 NA18747.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp2 NA19066.hp2 NA19067.hp1 NA19079.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0004t0010 a0002c0002t0032	a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0106 others(34): Show a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0003g0029 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0171 a0001c0001t0004g0023 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0005g0014 a0001c0001t0005g0025 a0001c0001t0006g0067 a0001c0001t0007g0202 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0011g0101 a0001c0001t0011g0152 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0014g0083 a0001c0001t0014g0233 a0001c0001t0023g0183 a0001c0001t0025g0104 a0001c0001t0025g0240 a0001c0001t0050g0155 a0001c0001t0051g0035 a0001c0001t0054g0087 a0001c0001t0056g0210 a0001c0004t0010g0154 a0002c0002t0032g0226	37	252	0.1468	-9	c.356 others(28): Show c.356-19765_356-19757delTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105724573	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02451.hp2 others(5): Show HG01257.hp2 HG01258.hp1 HG02451.hp2 HG02572.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0001c0001t0044	a0001c0001t0001g0205 a0001c0001t0007g0218 a0001c0001t0008g0075 others(5): Show a0001c0001t0001g0205 a0001c0001t0007g0218 a0001c0001t0008g0075 a0001c0001t0018g0058 a0001c0001t0020g0169 a0001c0001t0027g0134 a0001c0001t0031g0172 a0001c0001t0044g0110	8	252	0.0318	-9	c.356 others(28): Show c.356-59294_356-59286delTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105820126	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01167.hp1 others(26): Show HG00558.hp1 HG00673.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01358.hp2 HG01978.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02647.hp1 HG02965.hp2 HG03669.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18970.hp2 NA18989.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19085.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0011 a0001c0001 a0001c0008 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0042 a0001c0001t0047 a0001c0001t0054 a0001c0008t0014 a0005c0011t0008	a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0163 others(26): Show a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0002g0042 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0003g0118 a0001c0001t0003g0171 a0001c0001t0004g0127 a0001c0001t0007g0217 a0001c0001t0008g0216 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0011g0170 a0001c0001t0012g0232 a0001c0001t0014g0123 a0001c0001t0019g0063 a0001c0001t0029g0215 a0001c0001t0042g0161 a0001c0001t0047g0121 a0001c0001t0054g0087 a0001c0008t0014g0165 a0005c0011t0008g0092	29	252	0.1151	-9	c.251 others(28): Show c.251-31427_251-31419delTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105845562	ATATGGAA others(2): Show ATATGGAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02896.hp2 HG01891.hp2 HG02630.hp2 HG02896.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0045 a0002c0002t0030 a0007c0009t0007 a0001c0001t0045 a0002c0002t0030 a0007c0009t0007	a0001c0001t0045g0190 a0002c0002t0030g0208 a0007c0009t0007g0096 a0001c0001t0045g0190 a0002c0002t0030g0208 a0007c0009t0007g0096	3	252	0.0119	-9	c.250 others(28): Show c.250+30241_250+30249delATTTCCATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7_chr3_63858867_64008462	63863797	CGCGGCGG others(2): Show CGCGGCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02602.hp1 HG02895.hp1 HG02897.hp2 NA20129.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0012 a0004c0006t0004 a0001c0001t0001 a0001c0001t0012 a0004c0006t0004	a0001c0001t0001g0073 a0001c0001t0012g0122 a0004c0006t0004g0125 others(2): Show a0001c0001t0001g0073 a0001c0001t0012g0122 a0004c0006t0004g0125 a0004c0006t0004g0136 a0004c0006t0004g0138	5	300	0.0167	-9	c.-47 others(18): Show c.-471_-463delGCGGCGGCG		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding					69		chr3	TogoVar
ATXN7_chr3_63858867_64008462	63863951	GCGCCGCC others(2): Show GCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp2 HG02258.hp2 HG02723.hp2 others(3): Show HG01175.hp2 HG02258.hp2 HG02723.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2	a0010 a0016 a0010 a0016	a0010c0011 a0016c0017 a0010c0011 a0016c0017	a0010c0011t0014 a0016c0017t0029 a0010c0011t0014 a0016c0017t0029	a0010c0011t0014g0019 a0010c0011t0014g0028 a0010c0011t0014g0029 others(3): Show a0010c0011t0014g0019 a0010c0011t0014g0028 a0010c0011t0014g0029 a0010c0011t0014g0030 a0016c0017t0029g0017 a0016c0017t0029g0018	6	300	0.0200	-9	c.-29 others(18): Show c.-299_-291delCGCCGCCGC		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/13				48621	INFO_REALIGN_3_PRIME	chr3	TogoVar

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