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
ATP8B1_chr18_57641426_57808315	57680585	A A	AGAAACAA others(8): Show AGAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	314	0.0032	15	c.163 others(34): Show c.1630+3450_1630+3451insGTTTTGTTTTGTTTC		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713199	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0313 a0001c0001t0025g0313	1	314	0.0032	15	c.182 others(32): Show c.182-6613_182-6612insAAAGAAAGAAAGAAA		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57726237	A A	AAAAACAA others(8): Show AAAAACAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19090.hp2 NA19000.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0067 a0001c0001t0008g0060 a0001c0001t0001g0067 a0001c0001t0008g0060	2	314	0.0064	15	c.181 others(32): Show c.181+5389_181+5390insGTTTGTTTTTGTTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57752207	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02965.hp2 HG02976.hp2 others(4): Show HG01346.hp1 HG02965.hp2 HG02976.hp2 HG03239.hp1 HG03471.hp2 NA18939.hp2 NA18980.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0002c0002t0014 a0003c0003t0042	a0001c0001t0001g0098 a0001c0001t0013g0268 a0001c0001t0020g0193 others(4): Show a0001c0001t0001g0098 a0001c0001t0013g0268 a0001c0001t0020g0193 a0001c0001t0021g0002 a0002c0002t0014g0229 a0002c0002t0014g0266 a0003c0003t0042g0182	7	314	0.0223	15	c.-25 others(34): Show c.-25-20390_-25-20376dupATTATTATTATTATT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57759155	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	314	0.0032	15	c.-25 others(34): Show c.-25-27338_-25-27324dupTTTTTTTTTTTTTTT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57761112	T T	TATAAAAT others(8): Show TATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0040 a0001c0001t0016g0040	1	314	0.0032	15	c.-25 others(34): Show c.-25-29295_-25-29281dupTTTATTTTATTTTAT		ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27						chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154335129	C C	CCAGCTTG others(8): Show CCAGCTTGTGAAGGCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0128	1	382	0.0026	15	c.837 others(30): Show c.837+539_837+553dupCAGCTTGTGAAGGCT		ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	11/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP8B4_chr15_49853238_50124233	50007091	A A	AACAAGGG others(8): Show AACAAGGGAGTTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(129): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18953.hp2 NA18955.hp2 NA18963.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp2 NA18983.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19083.hp1 NA19084.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0017	a0001c0001 a0001c0014 a0002c0002 others(13): Show a0001c0001 a0001c0014 a0002c0002 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0007c0007 a0008c0008 a0009c0009 a0010c0012 a0011c0011 a0014c0016 a0015c0015 a0016c0017 a0017c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0005 a0004c0004t0009 a0004c0004t0011 a0004c0004t0018 a0004c0010t0005 a0005c0005t0001 a0007c0007t0001 a0008c0008t0005 a0008c0008t0009 a0009c0009t0001 a0009c0009t0024 a0010c0012t0001 a0011c0011t0002 a0014c0016t0001 a0015c0015t0027 a0016c0017t0001 a0017c0018t0004	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(128): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0238 a0001c0001t0001g0253 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0003g0105 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0244 a0001c0001t0004g0074 a0001c0001t0006g0156 a0001c0001t0010g0092 a0001c0001t0013g0102 a0001c0001t0015g0012 a0001c0001t0016g0031 a0001c0001t0019g0035 a0001c0001t0020g0024 a0001c0001t0022g0087 a0001c0001t0025g0239 a0001c0001t0026g0233 a0001c0001t0029g0250 a0001c0001t0030g0150 a0001c0001t0031g0241 a0001c0014t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0252 a0002c0002t0002g0009 a0002c0002t0002g0058 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0003g0119 a0002c0002t0003g0129 a0002c0002t0003g0214 a0002c0002t0006g0104 a0002c0002t0006g0146 a0002c0002t0008g0133 a0002c0002t0010g0093 a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0224 a0003c0003t0002g0004 a0003c0003t0002g0036 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0234 a0003c0003t0003g0246 a0003c0003t0004g0082 a0004c0004t0005g0248 a0004c0004t0005g0249 a0004c0004t0009g0091 a0004c0004t0009g0097 a0004c0004t0011g0022 a0004c0004t0011g0063 a0004c0004t0018g0018 a0004c0010t0005g0098 a0004c0010t0005g0152 a0005c0005t0001g0094 a0007c0007t0001g0240 a0007c0007t0001g0242 a0007c0007t0001g0243 a0008c0008t0005g0100 a0008c0008t0009g0178 a0009c0009t0001g0187 a0009c0009t0024g0186 a0010c0012t0001g0096 a0011c0011t0002g0053 a0014c0016t0001g0212 a0015c0015t0027g0154 a0016c0017t0001g0095 a0017c0018t0004g0080	132	254	0.5197	15	c.435 others(32): Show c.435+3753_435+3754insAGGGAACTCCCTTGT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	7/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(8): Show GATATATATCATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0033	1	254	0.0039	15	c.29- others(32): Show c.29-11787_29-11786insATATATGATATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(8): Show GATATATATCATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	254	0.0039	15	c.29- others(32): Show c.29-11787_29-11786insAAATATGATATATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50104888	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	254	0.0039	15	c.28+ others(30): Show c.28+2050_28+2051insTGTGTGTGTGTGTGT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50114103	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	254	0.0039	15	c.-43 others(32): Show c.-43+5005_-43+5019dupAAAAAAAAAAAAAAA		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	1/27						chr15	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19091.hp1 HG01106.hp2 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0004 a0001c0008t0004 a0001c0004t0004 a0001c0008t0004	a0001c0004t0004g0311 a0001c0008t0004g0306 a0001c0004t0004g0311 a0001c0008t0004g0306	2	312	0.0064	15	c.150 others(34): Show c.1507-3237_1507-3223dupTTTTTTTTTTTTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0014 a0001c0005t0008 a0001c0003t0014 a0001c0005t0008	a0001c0003t0014g0157 a0001c0005t0008g0114 a0001c0003t0014g0157 a0001c0005t0008g0114	2	312	0.0064	15	c.129 others(34): Show c.1294-1753_1294-1739dupCCCCCCCCCCCCCCC		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGTGGGG others(8): Show CGGTGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	312	0.0032	15	c.129 others(34): Show c.1294-1739_1294-1738insCCCCCCCGCCCCACC		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51682577	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	312	0.0032	15	c.800 others(32): Show c.800-6384_800-6370dupAAAAAAAAAAAAAAA		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27						chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp1 NA20300.hp1 HG02055.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0039 a0001c0003t0014 a0001c0001t0013 a0001c0001t0039 a0001c0003t0014	a0001c0001t0013g0136 a0001c0001t0039g0122 a0001c0003t0014g0126 a0001c0001t0013g0136 a0001c0001t0039g0122 a0001c0003t0014g0126	3	312	0.0096	15	c.68+ others(30): Show c.68+2659_68+2660insTTTTTTTTTTTTTTT		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27						chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071398	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01106.hp1 others(25): Show HG00280.hp1 HG00673.hp2 HG01106.hp1 HG01358.hp1 HG01496.hp1 HG02015.hp2 HG02040.hp2 HG02145.hp1 HG02559.hp2 HG02738.hp1 HG03098.hp1 HG03540.hp1 HG03927.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19086.hp1 NA19088.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015 a0015c0027	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0004t0003 a0001c0004t0004 a0001c0015t0001 a0015c0027t0003	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 others(25): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0015t0001g0130 a0001c0015t0001g0132 a0015c0027t0003g0139	28	298	0.0940	15	c.119 others(32): Show c.119+1869_119+1870insTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29						chr18	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	15	c.119 others(32): Show c.119+1884_119+1885insTTTTTTTTTTTTTTT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79157396	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0221 a0006c0012t0003g0221	1	298	0.0034	15	c.778 others(32): Show c.778+2855_778+2869dupAAAAAAAAAAAAAAA		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79234589	G G	GTGCTTGC others(8): Show GTGCTTGCTGTGGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(7): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG02735.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0024 a0004c0008 others(1): Show a0001c0001 a0001c0024 a0004c0008 a0004c0036	a0001c0001t0001 a0001c0024t0004 a0004c0008t0001 others(1): Show a0001c0001t0001 a0001c0024t0004 a0004c0008t0001 a0004c0036t0001	a0001c0001t0001g0118 a0001c0024t0004g0058 a0004c0008t0001g0001 others(6): Show a0001c0001t0001g0118 a0001c0024t0004g0058 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271	10	298	0.0336	15	c.110 others(36): Show c.1108-18763_1108-18749dupCCTGCTTGCTGTGGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRIP_chr3_48441737_48472645	48449413	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG01109.hp1 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0027 a0001c0003t0007g0027	2	360	0.0056	15	c.248 others(30): Show c.248-617_248-603dupAAAAAAAAAAAAAAA		ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATRIP_chr3_48441737_48472645	48468267	T T	TGAAAACA others(8): Show TGAAAACACTGCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	360	0.0028	15	c.27 others(26): Show c.2713_*2714insGAAAACACTGCAGGG		ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding					623		chr3	TogoVar
ATRNL1_chr10_115088365_115953999	115189380	T T	TATTCCAG others(8): Show TATTCCAGAAGAAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	128	0.0078	15	c.134 others(36): Show c.1348+18092_1348+18106dupCCAGAAGAAGGCATT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0024 a0001c0001t0024g0024	1	128	0.0078	15	c.153 others(34): Show c.1532+8050_1532+8051insATATATATATATTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115225475	T T	TTAATATA others(8): Show TTAATATAATATAATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01123.hp2 others(24): Show HG00639.hp2 HG00735.hp2 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp2 HG02132.hp1 HG02300.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG06807.hp2 NA18957.hp1 NA18994.hp1 NA19003.hp2 NA19030.hp2 NA19070.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0013 a0001c0015 a0002c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0026 a0001c0001t0042 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0005t0007 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0013t0009 a0001c0015t0034 a0002c0004t0006 a0002c0008t0011	a0001c0001t0001g0124 a0001c0001t0002g0080 a0001c0001t0002g0113 others(24): Show a0001c0001t0001g0124 a0001c0001t0002g0080 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0008g0079 a0001c0001t0026g0010 a0001c0001t0042g0095 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0004g0039 a0001c0002t0004g0054 a0001c0002t0004g0058 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0046 a0001c0002t0005g0057 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0013t0009g0078 a0001c0015t0034g0110 a0002c0004t0006g0084 a0002c0008t0011g0073	27	128	0.2109	15	c.153 others(34): Show c.1532+9612_1532+9626dupAATATAATATAATAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115351742	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01515.hp2 others(13): Show HG00738.hp1 HG01071.hp2 HG01515.hp2 HG01952.hp2 HG02132.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02895.hp2 HG03139.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0005 a0001c0003t0031 a0002c0014t0009	a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 others(13): Show a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0008g0079 a0001c0001t0019g0020 a0001c0001t0022g0032 a0001c0001t0024g0024 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0005g0043 a0001c0003t0031g0016 a0002c0014t0009g0072	16	128	0.1250	15	c.317 others(36): Show c.3175+17339_3175+17353dupTGTTTTGTTTTGTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0047 a0001c0003t0041g0047	1	128	0.0078	15	c.317 others(36): Show c.3176-13224_3176-13210dupTTTTTTTTTTTTTTT		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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 NA19240.hp1 HG02809.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0015 a0001c0003t0038 a0001c0001t0015 a0001c0003t0015 a0001c0003t0038	a0001c0001t0015g0064 a0001c0003t0015g0108 a0001c0003t0038g0106 a0001c0001t0015g0064 a0001c0003t0015g0108 a0001c0003t0038g0106	3	128	0.0234	15	c.326 others(34): Show c.3269+8510_3269+8524dupTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG02572.hp1 others(6): Show HG00639.hp2 HG02280.hp2 HG02572.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0042 a0001c0001t0048 a0001c0005t0007 a0001c0005t0032	a0001c0001t0001g0085 a0001c0001t0008g0023 a0001c0001t0014g0001 others(6): Show a0001c0001t0001g0085 a0001c0001t0008g0023 a0001c0001t0014g0001 a0001c0001t0042g0095 a0001c0001t0048g0107 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0032g0005	9	128	0.0703	15	c.379 others(36): Show c.3795+83358_3795+83372dupATTTTATTTTATTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738125	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	128	0.0078	15	c.390 others(36): Show c.3903+10770_3903+10771insTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28						chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp2 NA18522.hp2 HG00738.hp1 HG01952.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0041 a0001c0002t0001 a0001c0003t0041	a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0003t0041g0047 a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0003t0041g0047	3	128	0.0234	15	c.390 others(36): Show c.3903+10801_3903+10802insTTTTTTTTTTTTCTT		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(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0033 a0001c0001t0010g0034	2	128	0.0156	15	c.390 others(36): Show c.3904-45831_3904-45830insCACACACACACACAC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28						chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp1 HG01109.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0014 a0001c0007t0027 a0001c0003t0014 a0001c0007t0027	a0001c0003t0014g0089 a0001c0007t0027g0006 a0001c0003t0014g0089 a0001c0007t0027g0006	2	128	0.0156	15	c.401 others(36): Show c.4018+20842_4018+20856dupTTTTTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02451.hp2 HG02965.hp1 HG02970.hp2 HG03471.hp1	a0005 a0011 a0005 a0011	a0005c0009 a0011c0022 a0005c0009 a0011c0022	a0005c0009t0004 a0011c0022t0004 a0005c0009t0004 a0011c0022t0004	a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 others(1): Show a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	4	220	0.0182	15	c.411 others(34): Show c.411-23145_411-23144insATATTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02965.hp1 others(3): Show HG01884.hp2 HG02451.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0004 a0005c0009 a0011c0022 a0002c0004 a0005c0009 a0011c0022	a0002c0004t0004 a0005c0009t0004 a0011c0022t0004 a0002c0004t0004 a0005c0009t0004 a0011c0022t0004	a0002c0004t0004g0153 a0002c0004t0004g0154 a0005c0009t0004g0006 others(3): Show a0002c0004t0004g0153 a0002c0004t0004g0154 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	6	220	0.0273	15	c.411 others(34): Show c.411-16233_411-16232insAAAAAAAAAAAAAAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02572.hp1 NA18961.hp1 HG00140.hp1 HG02572.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0075 a0002c0002t0001g0029 a0002c0002t0001g0034 a0001c0001t0005g0075 a0002c0002t0001g0029 a0002c0002t0001g0034	3	218	0.0138	15	c.621 others(34): Show c.6217+4236_6217+4250dupTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18952.hp1 NA18973.hp1 others(1): Show NA18747.hp1 NA18952.hp1 NA18973.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0092 a0001c0001t0002g0128 a0001c0001t0002g0131 others(1): Show a0001c0001t0002g0092 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0004g0185	4	218	0.0184	15	c.455 others(32): Show c.4557+882_4557+896dupTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	218	0.0046	15	c.133 others(32): Show c.133+1006_133+1020dupAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18962.hp1 NA19082.hp2 others(1): Show HG01070.hp1 NA18962.hp1 NA19082.hp2 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0181 a0003c0003t0001g0185 a0003c0003t0001g0195 others(1): Show a0003c0003t0001g0181 a0003c0003t0001g0185 a0003c0003t0001g0195 a0003c0003t0001g0196	4	322	0.0124	15	c.394 others(34): Show c.3946-4681_3946-4680insAAATATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0172	1	322	0.0031	15	c.394 others(34): Show c.3946-4681_3946-4680insAAAAATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02818.hp1 HG03540.hp2 others(4): Show HG01516.hp2 HG02818.hp1 HG03540.hp2 NA18999.hp2 NA19062.hp2 NA19077.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107	7	322	0.0217	15	c.335 others(34): Show c.3358-1710_3358-1696dupTTTTTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01071.hp1 others(30): Show HG00140.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp1 HG01433.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03831.hp2 NA18961.hp1 NA18978.hp1 NA18998.hp2 NA19057.hp1 NA19058.hp1 NA19081.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0003c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 others(30): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0213 a0001c0001t0001g0296 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0003g0124 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0010g0103 a0001c0001t0016g0301 a0003c0002t0001g0063	33	316	0.1044	15	c.895 others(32): Show c.895-3845_895-3831dupATTATTATTATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	G G	GATTCTAT others(8): Show GATTCTATTCTATTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp2 others(5): Show HG00621.hp1 HG00621.hp2 HG00673.hp2 HG02897.hp1 HG02897.hp2 NA18612.hp2 NA18954.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0142 a0001c0001t0001g0144 others(5): Show a0001c0001t0001g0088 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0269	8	316	0.0253	15	c.117 others(36): Show c.1174-11549_1174-11535dupATTCTATTCTATTCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(8): Show ATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01433.hp2 HG03239.hp1 others(2): Show HG01168.hp2 HG01433.hp2 HG03239.hp1 NA18949.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 others(2): Show a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0116	5	316	0.0158	15	c.117 others(36): Show c.1174-11535_1174-11534insATTGTTTTCTATTCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	A A	AAATAGAA others(8): Show AAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01891.hp1 others(8): Show HG00408.hp2 HG00558.hp2 HG01891.hp1 HG02280.hp1 HG02280.hp2 HG03209.hp2 HG03490.hp1 HG04204.hp1 NA18970.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0005g0070	11	316	0.0348	15	c.123 others(36): Show c.1237+12216_1237+12230dupAATAGAATAGAATAG		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp2 HG03130.hp2 others(2): Show HG01255.hp1 HG02602.hp2 HG03130.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0007 a0009 a0016 others(1): Show a0007 a0009 a0016 a0029	a0007c0059 a0009c0016 a0016c0014 others(1): Show a0007c0059 a0009c0016 a0016c0014 a0029c0057	a0007c0059t0012 a0009c0016t0007 a0009c0016t0028 others(2): Show a0007c0059t0012 a0009c0016t0007 a0009c0016t0028 a0016c0014t0007 a0029c0057t0001	a0007c0059t0012g0030 a0009c0016t0007g0151 a0009c0016t0028g0141 others(2): Show a0007c0059t0012g0030 a0009c0016t0007g0151 a0009c0016t0028g0141 a0016c0014t0007g0155 a0029c0057t0001g0016	5	182	0.0275	15	c.191 others(34): Show c.1917+9514_1917+9528dupAAAAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(8): Show ATGCTGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp1 HG03492.hp1 NA18993.hp1 others(1): Show HG01978.hp1 HG03492.hp1 NA18993.hp1 NA19240.hp2	a0023 a0035 a0036 a0023 a0035 a0036	a0023c0034 a0023c0035 a0035c0036 others(1): Show a0023c0034 a0023c0035 a0035c0036 a0036c0037	a0023c0034t0002 a0023c0035t0001 a0035c0036t0007 others(1): Show a0023c0034t0002 a0023c0035t0001 a0035c0036t0007 a0036c0037t0001	a0023c0034t0002g0124 a0023c0035t0001g0064 a0035c0036t0007g0019 others(1): Show a0023c0034t0002g0124 a0023c0035t0001g0064 a0035c0036t0007g0019 a0036c0037t0001g0117	4	182	0.0220	15	c.612 others(22): Show c.612_626dupGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln204_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0073 a0002c0004t0001g0073	1	182	0.0055	15	c.-16 others(36): Show c.-160-66815_-160-66801dupTTTTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01168.hp2 others(4): Show HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01496.hp2 HG02735.hp1 HG03225.hp2 HG03834.hp1	a0001 a0011 a0012 others(2): Show a0001 a0011 a0012 a0015 a0033	a0001c0001 a0011c0007 a0012c0011 others(3): Show a0001c0001 a0011c0007 a0012c0011 a0015c0030 a0015c0055 a0033c0044	a0001c0001t0001 a0001c0001t0002 a0011c0007t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0011c0007t0002 a0012c0011t0004 a0015c0030t0014 a0015c0055t0004 a0033c0044t0024	a0001c0001t0001g0083 a0001c0001t0002g0077 a0011c0007t0002g0162 others(4): Show a0001c0001t0001g0083 a0001c0001t0002g0077 a0011c0007t0002g0162 a0012c0011t0004g0144 a0015c0030t0014g0102 a0015c0055t0004g0067 a0033c0044t0024g0048	7	182	0.0385	15	c.-16 others(36): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar

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