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
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(8): Show AAAAGGAAAGGAAACG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp2 others(32): Show HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01261.hp1 HG01361.hp2 HG01978.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG03927.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0010 a0011 a0013 a0014 a0017 a0020	a0001c0001 a0001c0027 a0002c0002 others(14): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0008c0012 a0010c0010 a0010c0039 a0011c0007 a0013c0013 a0014c0017 a0017c0022 a0020c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0027t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0043 a0002c0004t0001 a0003c0003t0001 a0004c0005t0002 a0004c0015t0001 a0004c0023t0009 a0004c0031t0002 a0008c0012t0005 a0010c0010t0006 a0010c0039t0001 a0011c0007t0002 a0013c0013t0005 a0013c0013t0016 a0014c0017t0025 a0017c0022t0001 a0020c0020t0026	a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0178 others(32): Show a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0001t0029g0145 a0001c0027t0001g0107 a0002c0002t0002g0089 a0002c0002t0008g0063 a0002c0002t0008g0138 a0002c0002t0016g0111 a0002c0002t0043g0175 a0002c0004t0001g0073 a0002c0004t0001g0084 a0002c0004t0001g0093 a0003c0003t0001g0049 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0023t0009g0110 a0004c0031t0002g0101 a0008c0012t0005g0091 a0008c0012t0005g0168 a0010c0010t0006g0113 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0169 a0013c0013t0005g0036 a0013c0013t0016g0153 a0014c0017t0025g0142 a0017c0022t0001g0104 a0017c0022t0001g0146 a0020c0020t0026g0088	35	182	0.1923	15	c.-36 others(36): Show c.-361+23328_-361+23329insCGTTTCCTTTCCTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(8): Show AAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02630.hp2 HG00642.hp2 HG02630.hp2	a0007 a0009 a0007 a0009	a0007c0009 a0009c0016 a0007c0009 a0009c0016	a0007c0009t0002 a0009c0016t0001 a0007c0009t0002 a0009c0016t0001	a0007c0009t0002g0028 a0009c0016t0001g0034 a0007c0009t0002g0028 a0009c0016t0001g0034	2	182	0.0110	15	c.-36 others(36): Show c.-361+23328_-361+23329insCCTTTCCTTTCCTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(8): Show AAGGAAAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp2 NA18522.hp2 HG02630.hp1 HG03453.hp2 NA18522.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0042 a0002c0002 a0002c0004 a0009c0042	a0002c0002t0010 a0002c0004t0001 a0009c0042t0011 a0002c0002t0010 a0002c0004t0001 a0009c0042t0011	a0002c0002t0010g0015 a0002c0004t0001g0182 a0009c0042t0011g0047 a0002c0002t0010g0015 a0002c0004t0001g0182 a0009c0042t0011g0047	3	182	0.0165	15	c.-36 others(36): Show c.-361+23326_-361+23327insCTCCTCTCCTTTCCT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16704459	G G	GAAGTAAG others(8): Show GAAGTAAGCCATAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(19): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01978.hp1 HG02004.hp1 HG02155.hp2 HG02523.hp1 HG02698.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18957.hp2 NA18986.hp1 NA18993.hp2 NA19007.hp2 NA19060.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0011 a0015 a0028 a0036	a0001c0001 a0002c0002 a0002c0004 others(8): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0008c0012 a0008c0024 a0011c0007 a0015c0030 a0028c0053 a0036c0037	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(13): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0003c0003t0021 a0004c0005t0002 a0008c0012t0005 a0008c0024t0001 a0011c0007t0002 a0015c0030t0004 a0015c0030t0014 a0028c0053t0004 a0036c0037t0001	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0178 others(19): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0178 a0002c0002t0002g0090 a0002c0002t0008g0063 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0080 a0002c0004t0001g0174 a0003c0003t0021g0003 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0177 a0008c0012t0005g0092 a0008c0024t0001g0143 a0011c0007t0002g0172 a0015c0030t0004g0032 a0015c0030t0014g0102 a0028c0053t0004g0065 a0036c0037t0001g0117	22	182	0.1209	15	c.-61 others(36): Show c.-614-46559_-614-46558insAATTATGGCTTACTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAAAAAT others(8): Show AAAAAAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	298	0.0034	15	c.348 others(30): Show c.348+553_348+554insAAAAAAAAATTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576085	A A	AATAACAT others(8): Show AATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0003t0001g0192 a0001c0001t0001g0008 a0001c0003t0001g0192	2	298	0.0067	15	c.252 others(34): Show c.252-20181_252-20167dupGTTATGTTATGTTAT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(8): Show TAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01433.hp1 others(13): Show HG00544.hp2 HG00597.hp1 HG01433.hp1 HG01884.hp2 HG02165.hp1 HG02273.hp1 HG04115.hp1 NA18612.hp2 NA18981.hp1 NA19000.hp1 NA19007.hp2 NA19058.hp2 NA19066.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0002c0016 others(1): Show a0001c0001 a0002c0002 a0002c0016 a0017c0024	a0001c0001t0004 a0002c0002t0001 a0002c0016t0001 others(1): Show a0001c0001t0004 a0002c0002t0001 a0002c0016t0001 a0017c0024t0001	a0001c0001t0004g0283 a0002c0002t0001g0013 a0002c0002t0001g0035 others(13): Show a0001c0001t0004g0283 a0002c0002t0001g0013 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0079 a0002c0016t0001g0057 a0017c0024t0001g0120	16	298	0.0537	15	c.252 others(34): Show c.252-20219_252-20218insGTGTGATGTTATGTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18981.hp1 NA18991.hp1 others(1): Show HG02027.hp1 NA18981.hp1 NA18991.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0071 others(1): Show a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0071 a0002c0002t0003g0034	4	298	0.0134	15	c.251 others(32): Show c.251+9778_251+9792dupTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	298	0.0034	15	c.251 others(32): Show c.251+5987_251+6001dupTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG02040.hp1 HG02165.hp1 others(21): Show HG00408.hp2 HG02040.hp1 HG02165.hp1 HG02738.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA19009.hp2 NA19055.hp2 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 others(1): Show a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 a0004c0004t0118	a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 others(20): Show a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 a0004c0004t0005g0095 a0004c0004t0005g0096 a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0301 a0004c0004t0005g0302 a0004c0004t0005g0303 a0004c0004t0005g0304 a0004c0004t0005g0305 a0004c0004t0005g0306 a0004c0004t0005g0308 a0004c0004t0005g0309 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0005g0312 a0004c0004t0022g0006 a0004c0004t0022g0298 a0004c0004t0022g0307 a0004c0004t0117g0392 a0004c0004t0118g0090	24	402	0.0597	15	c.901 others(22): Show c.901_915dupCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln301_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071020	C C	CTGCTGCT others(8): Show CTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02559.hp1 HG02896.hp1 others(1): Show HG02257.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0054 a0004c0026t0055 a0004c0026t0056 others(1): Show a0004c0026t0054 a0004c0026t0055 a0004c0026t0056 a0004c0026t0057	a0004c0026t0054g0017 a0004c0026t0055g0018 a0004c0026t0056g0016 others(1): Show a0004c0026t0054g0017 a0004c0026t0055g0018 a0004c0026t0056g0016 a0004c0026t0057g0386	4	402	0.0100	15	c.891 others(22): Show c.891_905dupACAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln298_Gln302dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	935/6884	905/1086	302/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92100200	A A	AATTATGT others(8): Show AATTATGTAATGCATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0002 a0013c0012t0002	a0013c0012t0002g0037 a0013c0012t0002g0037	1	402	0.0025	15	c.25- others(30): Show c.25-3377_25-3363dupGATGCATTACATAAT		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	1/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01978.hp2 others(7): Show HG00735.hp2 HG01109.hp2 HG01978.hp2 HG02129.hp2 HG02145.hp2 HG03490.hp2 HG03688.hp2 NA18971.hp2 NA19000.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0062 a0001c0001t0063 a0001c0004t0010	a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0003g0004 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0003g0004 a0001c0001t0003g0030 a0001c0001t0010g0093 a0001c0001t0012g0052 a0001c0001t0019g0230 a0001c0001t0062g0007 a0001c0001t0063g0041 a0001c0004t0010g0154	10	252	0.0397	15	c.151 others(34): Show c.1517+1045_1517+1059dupAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	252	0.0040	15	c.356 others(32): Show c.356-5831_356-5817dupTTTTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG01517.hp1 others(6): Show HG01099.hp2 HG01516.hp2 HG01517.hp1 HG03579.hp2 HG03831.hp1 HG04199.hp1 NA18948.hp2 NA19005.hp2 NA19074.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0010 a0001c0001 a0001c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0058 a0001c0001t0061 a0001c0008t0014 a0006c0010t0031	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0053 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0053 a0001c0001t0002g0245 a0001c0001t0009g0141 a0001c0001t0058g0018 a0001c0001t0061g0036 a0001c0008t0014g0165 a0006c0010t0031g0204	9	252	0.0357	15	c.355 others(34): Show c.355+60836_355+60837insTATATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01167.hp2 others(19): Show HG00673.hp1 HG00673.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02723.hp1 HG03041.hp2 HG03491.hp2 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA18994.hp2 NA18995.hp1 NA19066.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0174 others(19): Show a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0174 a0001c0001t0002g0002 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0118 a0001c0001t0003g0235 a0001c0001t0004g0039 a0001c0001t0004g0219 a0001c0001t0005g0126 a0001c0001t0007g0218 a0001c0001t0009g0054 a0001c0001t0009g0097 a0001c0001t0010g0032 a0001c0001t0010g0091 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0014g0123 a0001c0001t0016g0176 a0001c0001t0024g0077 a0001c0006t0001g0112	22	252	0.0873	15	c.355 others(34): Show c.355+56841_355+56855dupCTTTTCTTTTCTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105771201	G G	GATAATAA others(8): Show GATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18957.hp1 HG02132.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0029 a0001c0001t0001g0106 a0001c0001t0003g0029	2	252	0.0079	15	c.355 others(34): Show c.355+17388_355+17402dupTATTATTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790654	C C	CTATCATC others(8): Show CTATCATCTATCTACT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19068.hp1 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0050 a0001c0001t0005g0248 a0001c0001t0003g0050 a0001c0001t0005g0248	2	252	0.0079	15	c.251 others(32): Show c.251-1947_251-1946insAGTAGATAGATGATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01981.hp1 NA19091.hp2 HG01952.hp2 HG01981.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	3	408	0.0074	15	c.-14 others(26): Show c.-1443_-1442insTTTTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63863797	C C	CGCGGCGG others(8): Show CGCGGCGGCGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0145 a0002c0002t0050g0145	1	300	0.0033	15	c.-47 others(24): Show c.-472_-471insGCGGCGGCGGCGGCG		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding					69		chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCAG others(8): Show GGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18946.hp1 NA18946.hp1	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0003 a0028c0019t0003	a0028c0019t0003g0166 a0028c0019t0003g0166	1	300	0.0033	15	c.104 others(22): Show c.104_118dupAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln35_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912714	A A	AGCAGCAG others(8): Show AGCAGCAGCAGCAGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0026 a0026	a0026c0020 a0026c0020	a0026c0020t0060 a0026c0020t0060	a0026c0020t0060g0009 a0026c0020t0060g0009	1	300	0.0033	15	c.118 others(22): Show c.118_119insAGCAGCAGCAGCCGC	p.Gln others(26): Show p.Gln39_Pro40insGlnGlnGlnGlnPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69730019	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0017 a0002c0002t0036g0017	1	76	0.0132	15	c.309 others(36): Show c.309+130057_309+130058insTTTTTTTTTTTTTTA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	69850398	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0017 a0001c0008t0017	a0001c0008t0017g0046 a0001c0008t0017g0046	1	76	0.0132	15	c.310 others(34): Show c.310-48865_310-48851dupAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03139.hp2 others(1): Show HG02622.hp1 HG03041.hp1 HG03139.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 a0001c0001 a0001c0005 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0005t0030 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0005t0030 a0002c0010t0033	a0001c0001t0005g0012 a0001c0001t0009g0006 a0001c0005t0030g0013 others(1): Show a0001c0001t0005g0012 a0001c0001t0009g0006 a0001c0005t0030g0013 a0002c0010t0033g0014	4	76	0.0526	15	c.310 others(34): Show c.310-26440_310-26426dupTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003172	T T	TTATATGA others(8): Show TTATATGAATATATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	15	c.522 others(36): Show c.522+103748_522+103762dupTATATATGAATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003210	A A	ATATATTA others(8): Show ATATATTATATATGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 NA19240.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0001t0006 a0001c0004t0012 a0001c0004t0013	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025	3	76	0.0395	15	c.522 others(36): Show c.522+103726_522+103727insGTATATTATATATGA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003405	A A	ATATATAT others(8): Show ATATATATGAATATGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00280.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0001g0071 a0001c0001t0003g0068	2	76	0.0263	15	c.522 others(36): Show c.522+103936_522+103950dupGTTATATATGAATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(8): Show TCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18612.hp2 HG03225.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0036 a0001c0001t0001 a0002c0002t0036	a0001c0001t0001g0033 a0002c0002t0036g0017 a0001c0001t0001g0033 a0002c0002t0036g0017	2	76	0.0263	15	c.523 others(36): Show c.523-106781_523-106767dupTCTCCTCTCCTCTCC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG02615.hp2 others(7): Show HG00099.hp2 HG01081.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG03017.hp2 HG03139.hp2 HG03704.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0002c0002t0024 a0002c0002t0026 a0002c0010t0033	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 others(7): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0032g0016 a0001c0001t0035g0019 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0010t0033g0014	10	76	0.1316	15	c.523 others(34): Show c.523-64576_523-64575insTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	76	0.0132	15	c.661 others(34): Show c.661-95589_661-95588insCACACACACACACAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 HG03540.hp1 others(1): Show HG01884.hp2 HG02886.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0010 a0001c0003t0027 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0027 a0001c0008t0017	a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0003t0027g0009 others(1): Show a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0003t0027g0009 a0001c0008t0017g0046	4	76	0.0526	15	c.691 others(36): Show c.691-119321_691-119307dupAAAAAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18988.hp1 HG04184.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0180 a0001c0001t0002g0071 a0001c0001t0002g0180	2	266	0.0075	15	c.517 others(30): Show c.517-759_517-745dupTTTTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	372	0.0027	15	c.-20 others(30): Show c.-20+432_-20+446dupAAAAAAAAAAAAAAA		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19						chr12	TogoVar
AVL9_chr7_32490489_32593726	32503406	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0087 a0001c0004t0087	a0001c0004t0087g0324 a0001c0004t0087g0324	1	330	0.0030	15	c.93+ others(30): Show c.93+7604_93+7605insCACACACACACACAC		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15						chr7	TogoVar
AVL9_chr7_32490489_32593726	32545364	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0315 a0001c0001t0110g0315	1	330	0.0030	15	c.300 others(30): Show c.300+596_300+610dupTTTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0120 a0001c0008t0120	a0001c0008t0120g0054 a0001c0008t0120g0054	1	330	0.0030	15	c.462 others(30): Show c.462+187_462+201dupTTTTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03710.hp2 HG03704.hp1 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0012 a0002c0003t0002 a0002c0003t0012	a0002c0003t0002g0117 a0002c0003t0012g0116 a0002c0003t0002g0117 a0002c0003t0012g0116	2	330	0.0061	15	c.135 others(32): Show c.1351-396_1351-382dupAAAAAAAAAAAAAAA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579615	T T	TATATATT others(8): Show TATATATTATATTATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0068 a0001c0002t0011g0068	1	330	0.0030	15	c.168 others(32): Show c.1689-598_1689-597insTATATTATAATATAT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97679000	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	446	0.0022	15	c.287 others(30): Show c.287+618_287+619insCACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAC others(8): Show AAAAAAACAAAAAACT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01106.hp2 others(14): Show HG00609.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01433.hp2 HG01934.hp2 HG01952.hp1 HG02165.hp2 HG02602.hp2 HG03942.hp2 NA18943.hp2 NA18979.hp1 NA19003.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA20805.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0020 a0004c0005 a0002c0001 a0002c0020 a0004c0005	a0002c0001t0001 a0002c0020t0001 a0004c0005t0001 a0002c0001t0001 a0002c0020t0001 a0004c0005t0001	a0002c0001t0001g0105 a0002c0001t0001g0219 a0002c0001t0001g0222 others(14): Show a0002c0001t0001g0105 a0002c0001t0001g0219 a0002c0001t0001g0222 a0002c0001t0001g0249 a0002c0001t0001g0253 a0002c0001t0001g0260 a0002c0020t0001g0320 a0004c0005t0001g0298 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0310	17	356	0.0478	15	c.209 others(34): Show c.2091+2920_2091+2921insAAAACAAAAAACTAA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	283017	G G	GGTGTCGT others(8): Show GGTGTCGTCTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0208 a0001c0003t0004g0208	1	378	0.0027	15	c.51 others(26): Show c.5104_*5105insAGAAAGAGACGACAC		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					4422		chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	402	0.0025	15	c.106 others(32): Show c.1060-339_1060-325dupTTTTTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0159 a0001c0001t0054g0159	1	314	0.0032	15	c.41 others(24): Show c.411_*425dupTTTTTTTTTTTTTTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20				426	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	823450	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG04184.hp1 HG02818.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0006 a0001c0004t0001g0046 a0001c0002t0001g0006 a0001c0004t0001g0046	2	391	0.0051	15	c.-43 others(26): Show c.-4397_-4396insAAAAAAAAAAAAAAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4386		chr19	TogoVar
AZU1_chr19_822837_837018	833275	T T	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18986.hp2 NA18981.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	391	0.0051	15	c.13 others(26): Show c.1398_*1399insAAGAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1258		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	391	0.0026	15	c.14 others(26): Show c.1401_*1402insAAGAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1261		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAATAAGA others(8): Show TAATAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	15	c.14 others(26): Show c.1401_*1402insAATAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1261		chr19	TogoVar
AZU1_chr19_822837_837018	833278	T T	TAATAATA others(8): Show TAATAATAATAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0002 a0009c0012t0001g0002	1	391	0.0026	15	c.14 others(26): Show c.1401_*1402insAATAATAATAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1261		chr19	TogoVar
B2M_chr15_44706517_44723145	44721693	A A	ACACCACC others(8): Show ACACCACCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(266): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0004g0011 a0001c0001t0006g0001	269	385	0.6987	15	c.41 others(26): Show c.4101_*4102insCACCACCACCACCAC		B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding					3549		chr15	TogoVar

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