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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79086435	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0190 a0002c0005t0001g0190	1	298	0.0034	11	c.120 others(30): Show c.120-10031_120-10021dupAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79137440	G G	GATAGGCC others(4): Show GATAGGCCTTGC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	298	0.0034	11	c.668 others(28): Show c.668-6361_668-6351dupATAGGCCTTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79144868	A A	ACATAGTG others(4): Show ACATAGTGATGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0142 a0001c0003t0003g0142	1	298	0.0034	11	c.726 others(28): Show c.726+1008_726+1009insCATAGTGATGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157396	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	298	0.0034	11	c.778 others(28): Show c.778+2859_778+2869dupAAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157405	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(55): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01975.hp1 HG02015.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18990.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19070.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0002c0005 a0002c0032 others(3): Show a0002c0002 a0002c0005 a0002c0032 a0002c0033 a0007c0031 a0008c0030	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(9): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0032t0005 a0002c0033t0002 a0007c0031t0002 a0008c0030t0001	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 others(55): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0181 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0213 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0211 a0002c0005t0004g0184 a0002c0032t0005g0195 a0002c0033t0002g0214 a0007c0031t0002g0251 a0008c0030t0001g0254	58	298	0.1946	11	c.778 others(28): Show c.778+2860_778+2861insCAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157405	A A	AAAAAAAC others(4): Show AAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	298	0.0034	11	c.778 others(28): Show c.778+2856_778+2857insCAAACAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157406	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18950.hp1 HG02135.hp2 NA18950.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0035 a0002c0002 a0011c0035	a0002c0002t0002 a0011c0035t0002 a0002c0002t0002 a0011c0035t0002	a0002c0002t0002g0234 a0011c0035t0002g0201 a0002c0002t0002g0234 a0011c0035t0002g0201	2	298	0.0067	11	c.778 others(28): Show c.778+2861_778+2862insCAAAAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157408	A A	AAAAAAAA others(4): Show AAAAAAAACAAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0192	1	298	0.0034	11	c.778 others(28): Show c.778+2860_778+2861insCAACAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157409	A A	AAAAAAAC others(4): Show AAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp1 NA18612.hp1 others(1): Show HG00741.hp1 HG02055.hp1 NA18612.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002	a0002c0002t0002g0188 a0002c0002t0002g0239 a0002c0005t0001g0190 others(1): Show a0002c0002t0002g0188 a0002c0002t0002g0239 a0002c0005t0001g0190 a0002c0005t0002g0207	4	298	0.0134	11	c.778 others(28): Show c.778+2860_778+2861insCAAACAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157410	A A	AAAAAACA others(4): Show AAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	298	0.0034	11	c.778 others(28): Show c.778+2860_778+2861insCAAAACAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(4): Show CACACACAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	298	0.0034	11	c.330 others(28): Show c.3307+789_3307+790insCACACAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46654528	T T	TTTATTTT others(4): Show TTTATTTTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02040.hp2 HG02258.hp2 others(3): Show HG01884.hp2 HG02040.hp2 HG02258.hp2 HG02922.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0017g0142	6	412	0.0146	11	c.490 others(26): Show c.490-662_490-661insTAATAAAATAA	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	4/8			chr1	TogoVar
ATPAF2_chr17_18013021_18044168	18019186	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03516.hp1 NA19090.hp2 HG02027.hp2 HG03516.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0225 a0001c0001t0001g0267 a0001c0001t0001g0063 a0001c0001t0001g0225 a0001c0001t0001g0267	3	328	0.0092	11	c.733 others(26): Show c.733-501_733-500insTGTGTGTGTGT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249897	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0184 a0001c0003t0019g0184	1	358	0.0028	11	c.-25 others(18): Show c.-25_-24insTTTTTTTTTTT	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		10		chr5	TogoVar
ATRAID_chr2_27207041_27222157	27211966	C C	CCCCGCCC others(4): Show CCCCGCCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(59): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18955.hp2 NA18968.hp1 NA18982.hp1 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19012.hp2 NA19043.hp2 NA19084.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0005 others(1): Show a0001c0001 a0003c0003 a0004c0005 a0006c0007	a0001c0001t0002 a0001c0001t0005 a0003c0003t0004 others(2): Show a0001c0001t0002 a0001c0001t0005 a0003c0003t0004 a0004c0005t0002 a0006c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0027 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0005g0002 a0003c0003t0004g0004 a0004c0005t0002g0002 a0006c0007t0002g0002	62	302	0.2053	11	c.-40 others(20): Show c.-403_-402insCCCGCCCCCTG	ATRAID	ENSG00000138085.18	transcript	ENST00000380171.9	protein_coding		74		chr2	TogoVar
ATRNL1_chr10_115088365_115953999	115223927	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0127	1	128	0.0078	11	c.153 others(30): Show c.1532+8048_1532+8049insTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0038 a0001c0001t0003 a0001c0003t0038	a0001c0001t0003g0061 a0001c0003t0038g0106 a0001c0001t0003g0061 a0001c0003t0038g0106	2	128	0.0156	11	c.153 others(30): Show c.1532+8050_1532+8051insATATTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01123.hp2 others(10): Show HG00738.hp1 HG00741.hp1 HG01123.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG02015.hp2 HG02615.hp1 HG02895.hp2 NA18522.hp2 NA18995.hp1 NA19011.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0041	a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0050 others(10): Show a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0004g0040 a0001c0002t0004g0056 a0001c0002t0004g0067 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0003t0041g0047	13	128	0.1016	11	c.153 others(30): Show c.1532+8050_1532+8051insATTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG02896.hp2 others(2): Show HG01081.hp2 HG02258.hp1 HG02896.hp2 HG03195.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0014 a0001c0001t0042 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0042 a0001c0002t0004 a0001c0003t0037	a0001c0001t0003g0093 a0001c0001t0014g0001 a0001c0001t0042g0095 others(2): Show a0001c0001t0003g0093 a0001c0001t0014g0001 a0001c0001t0042g0095 a0001c0002t0004g0039 a0001c0003t0037g0121	5	128	0.0391	11	c.153 others(30): Show c.1532+8059_1532+8069dupTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	128	0.0078	11	c.317 others(32): Show c.3176-13220_3176-13210dupTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0002 a0001c0005t0007g0002	1	128	0.0078	11	c.326 others(30): Show c.3269+8514_3269+8524dupTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115561680	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	128	0.0078	11	c.379 others(32): Show c.3795+12153_3795+12154insTGGTGTGTGTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738126	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02976.hp1 HG01891.hp1 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0005t0018 a0001c0001t0002 a0001c0001t0008 a0001c0005t0018	a0001c0001t0002g0111 a0001c0001t0008g0023 a0001c0005t0018g0003 a0001c0001t0002g0111 a0001c0001t0008g0023 a0001c0005t0018g0003	3	128	0.0234	11	c.390 others(32): Show c.3903+10791_3903+10801dupTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02723.hp2 others(3): Show HG02145.hp1 HG02630.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0008 a0001c0001t0017 a0001c0001t0043 others(3): Show a0001c0001t0008 a0001c0001t0017 a0001c0001t0043 a0001c0002t0001 a0001c0006t0013 a0001c0007t0030	a0001c0001t0008g0014 a0001c0001t0017g0028 a0001c0001t0043g0094 others(3): Show a0001c0001t0008g0014 a0001c0001t0017g0028 a0001c0001t0043g0094 a0001c0002t0001g0103 a0001c0006t0013g0029 a0001c0007t0030g0008	6	128	0.0469	11	c.390 others(32): Show c.3904-45831_3904-45830insCACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	128	0.0078	11	c.401 others(30): Show c.4018+8449_4018+8459dupAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG01943.hp1 others(4): Show HG01081.hp1 HG01361.hp1 HG01943.hp1 HG03239.hp2 NA18522.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0009 a0001c0002t0005 a0001c0003t0002 others(3): Show a0001c0001t0009 a0001c0002t0005 a0001c0003t0002 a0001c0003t0004 a0001c0003t0041 a0001c0013t0009	a0001c0001t0009g0122 a0001c0002t0005g0043 a0001c0002t0005g0057 others(4): Show a0001c0001t0009g0122 a0001c0002t0005g0043 a0001c0002t0005g0057 a0001c0003t0002g0081 a0001c0003t0004g0042 a0001c0003t0041g0047 a0001c0013t0009g0078	7	128	0.0547	11	c.401 others(32): Show c.4018+20846_4018+20856dupTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115879305	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01071.hp1 others(38): Show HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG06807.hp1 NA18957.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA19240.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0002c0004 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0048 a0001c0002t0004 a0001c0002t0005 a0001c0002t0028 a0001c0003t0004 a0001c0003t0037 a0001c0005t0007 a0001c0005t0021 a0001c0006t0009 a0001c0013t0009 a0002c0004t0007 a0002c0004t0012 a0002c0014t0009	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0105 others(38): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0002g0017 a0001c0001t0002g0111 a0001c0001t0003g0066 a0001c0001t0008g0014 a0001c0001t0009g0122 a0001c0001t0014g0001 a0001c0001t0015g0064 a0001c0001t0016g0031 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0001t0025g0021 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0001t0048g0107 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0028g0076 a0001c0003t0004g0042 a0001c0003t0037g0121 a0001c0005t0007g0004 a0001c0005t0021g0007 a0001c0006t0009g0038 a0001c0013t0009g0078 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0014t0009g0072	41	128	0.3203	11	c.401 others(32): Show c.4018+31324_4018+31325insAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0013 a0001c0013t0008 a0001c0001t0013 a0001c0013t0008	a0001c0001t0013g0136 a0001c0013t0008g0171 a0001c0001t0013g0136 a0001c0013t0008g0171	2	220	0.0091	11	c.410 others(30): Show c.410+14112_410+14122dupTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0151 a0002c0004t0011g0151	1	220	0.0046	11	c.411 others(30): Show c.411-23145_411-23144insATATATTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3541076	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 NA18952.hp2 others(1): Show HG01074.hp1 HG01433.hp1 NA18952.hp2 NA19075.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0007 a0003c0008 a0003c0018 others(1): Show a0001c0007 a0003c0008 a0003c0018 a0017c0032	a0001c0007t0006 a0003c0008t0005 a0003c0018t0007 others(1): Show a0001c0007t0006 a0003c0008t0005 a0003c0018t0007 a0017c0032t0001	a0001c0007t0006g0203 a0003c0008t0005g0198 a0003c0018t0007g0200 others(1): Show a0001c0007t0006g0203 a0003c0008t0005g0198 a0003c0018t0007g0200 a0017c0032t0001g0195	4	220	0.0182	11	c.608 others(26): Show c.608+750_608+760dupTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554990	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0216 a0001c0003t0002g0217	2	220	0.0091	11	c.111 others(30): Show c.1113-4383_1113-4373dupTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp1 HG02080.hp1 others(6): Show HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG03540.hp1 NA18947.hp2 NA18977.hp1 NA18995.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0020 a0002c0002t0001 a0002c0002t0002 a0002c0002t0015	a0001c0001t0020g0180 a0002c0002t0001g0039 a0002c0002t0001g0059 others(6): Show a0001c0001t0020g0180 a0002c0002t0001g0039 a0002c0002t0001g0059 a0002c0002t0001g0209 a0002c0002t0002g0007 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0206 a0002c0002t0015g0043	9	218	0.0413	11	c.621 others(30): Show c.6217+4240_6217+4250dupTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	218	0.0046	11	c.455 others(28): Show c.4557+886_4557+896dupTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19001.hp1 NA18992.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0054 a0002c0002t0002g0032 a0002c0002t0001g0054 a0002c0002t0002g0032	2	218	0.0092	11	c.380 others(30): Show c.3809+5058_3809+5059insATATATATTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02723.hp2 others(1): Show HG01167.hp1 HG02451.hp2 HG02723.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0087 a0001c0001t0003g0115 a0001c0001t0003g0137 others(1): Show a0001c0001t0001g0087 a0001c0001t0003g0115 a0001c0001t0003g0137 a0002c0002t0001g0204	4	218	0.0184	11	c.380 others(30): Show c.3809+5058_3809+5059insATATATATATT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19066.hp1 NA18952.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0092 a0001c0001t0002g0100	2	218	0.0092	11	c.133 others(28): Show c.133+1010_133+1020dupAAAAAAAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02572.hp2 HG02717.hp1 others(1): Show HG01123.hp2 HG02572.hp2 HG02717.hp1 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0006 a0012c0021 a0001c0006 a0012c0021	a0001c0006t0001 a0012c0021t0001 a0001c0006t0001 a0012c0021t0001	a0001c0006t0001g0006 a0001c0006t0001g0009 a0001c0006t0001g0018 others(1): Show a0001c0006t0001g0006 a0001c0006t0001g0009 a0001c0006t0001g0018 a0012c0021t0001g0320	4	322	0.0124	11	c.765 others(30): Show c.7656-1215_7656-1205dupAAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	322	0.0031	11	c.394 others(30): Show c.3946-4681_3946-4680insATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA21309.hp2 HG00738.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0207 a0001c0006t0001g0010 a0001c0004t0001g0207 a0001c0006t0001g0010	2	322	0.0062	11	c.394 others(30): Show c.3946-4681_3946-4680insAAATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18971.hp2 HG02647.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0098 a0001c0004t0001g0203 a0001c0001t0001g0098 a0001c0004t0001g0203	2	322	0.0062	11	c.394 others(30): Show c.3946-4681_3946-4680insAAAAAAATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp2 HG03017.hp1 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0153 a0001c0004t0001g0025 a0001c0004t0001g0153	2	322	0.0062	11	c.394 others(30): Show c.3946-4681_3946-4680insAAAAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	322	0.0031	11	c.394 others(30): Show c.3946-4691_3946-4681dupAAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0015	1	322	0.0031	11	c.394 others(30): Show c.3946-4682_3946-4681insTATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG02040.hp2 others(9): Show HG00438.hp2 HG00597.hp1 HG02040.hp2 HG02886.hp1 NA18950.hp1 NA18963.hp2 NA18977.hp1 NA18982.hp1 NA19060.hp1 NA19070.hp2 NA19240.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0011c0019t0001 a0001c0001t0001 a0011c0019t0001	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0142 a0011c0019t0001g0064	12	322	0.0373	11	c.335 others(30): Show c.3358-1706_3358-1696dupTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG01496.hp1 others(4): Show HG00642.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG02451.hp2 HG03139.hp1 HG03139.hp2	a0001 a0006 a0024 others(2): Show a0001 a0006 a0024 a0031 a0032	a0001c0001 a0001c0029 a0006c0008 others(3): Show a0001c0001 a0001c0029 a0006c0008 a0024c0018 a0031c0048 a0032c0045	a0001c0001t0020 a0001c0001t0030 a0001c0029t0039 others(4): Show a0001c0001t0020 a0001c0001t0030 a0001c0029t0039 a0006c0008t0046 a0024c0018t0012 a0031c0048t0042 a0032c0045t0018	a0001c0001t0020g0002 a0001c0001t0030g0021 a0001c0029t0039g0041 others(4): Show a0001c0001t0020g0002 a0001c0001t0030g0021 a0001c0029t0039g0041 a0006c0008t0046g0062 a0024c0018t0012g0148 a0031c0048t0042g0026 a0032c0045t0018g0059	7	182	0.0385	11	c.191 others(30): Show c.1917+9518_1917+9528dupAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16365398	G G	GAACTCCT others(4): Show GAACTCCTACCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02896.hp2 HG00735.hp1 HG02622.hp2 HG02896.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0029 a0003c0051 a0013c0038 a0001c0029 a0003c0051 a0013c0038	a0001c0029t0048 a0003c0051t0010 a0013c0038t0034 a0001c0029t0048 a0003c0051t0010 a0013c0038t0034	a0001c0029t0048g0031 a0003c0051t0010g0173 a0013c0038t0034g0139 a0001c0029t0048g0031 a0003c0051t0010g0173 a0013c0038t0034g0139	3	182	0.0165	11	c.-16 others(32): Show c.-160-36929_-160-36928insAGGTAGGAGTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16390680	T T	TACACACA others(4): Show TACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0043 a0006c0043	a0006c0043t0010 a0006c0043t0010	a0006c0043t0010g0128 a0006c0043t0010g0128	1	182	0.0055	11	c.-16 others(32): Show c.-160-62211_-160-62210insTGTGTGTGTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG01169.hp2 others(3): Show HG00423.hp2 HG01074.hp1 HG01169.hp2 HG02280.hp1 HG02895.hp1 NA18522.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0010 a0021 a0033	a0001c0001 a0002c0002 a0005c0006 others(3): Show a0001c0001 a0002c0002 a0005c0006 a0010c0010 a0021c0021 a0033c0044	a0001c0001t0001 a0002c0002t0010 a0005c0006t0003 others(3): Show a0001c0001t0001 a0002c0002t0010 a0005c0006t0003 a0010c0010t0006 a0021c0021t0014 a0033c0044t0024	a0001c0001t0001g0105 a0002c0002t0010g0015 a0005c0006t0003g0057 others(3): Show a0001c0001t0001g0105 a0002c0002t0010g0015 a0005c0006t0003g0057 a0010c0010t0006g0113 a0021c0021t0014g0082 a0033c0044t0024g0048	6	182	0.0330	11	c.-61 others(32): Show c.-614-24313_-614-24303dupAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG04115.hp2 NA18973.hp2 HG03688.hp1 HG04115.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0074	3	382	0.0079	11	c.-32 others(20): Show c.-325_-324insCCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111493418	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03225.hp2 HG01943.hp2 HG03225.hp2	a0006 a0019 a0006 a0019	a0006c0010 a0019c0027 a0006c0010 a0019c0027	a0006c0010t0003 a0019c0027t0003 a0006c0010t0003 a0019c0027t0003	a0006c0010t0003g0112 a0019c0027t0003g0207 a0006c0010t0003g0112 a0019c0027t0003g0207	2	298	0.0067	11	c.193 others(30): Show c.1936-4649_1936-4639dupTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	14/24			chr12	TogoVar

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