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
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(11): Show GATAATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0012 a0001c0001t0013	a0001c0001t0012g0208 a0001c0001t0013g0136 a0001c0001t0012g0208 a0001c0001t0013g0136	2	220	0.0091	-18	c.411 others(37): Show c.411-30531_411-30514delATAATAATAATAATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00673.hp2 others(25): Show HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG01074.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG02015.hp2 HG02165.hp1 HG02300.hp2 HG03490.hp1 HG03710.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18985.hp2 NA18994.hp2 NA19063.hp1 NA19075.hp1 NA19081.hp2	a0001 a0014 a0016 others(1): Show a0001 a0014 a0016 a0017	a0001c0001 a0014c0026 a0016c0028 others(1): Show a0001c0001 a0014c0026 a0016c0028 a0017c0032	a0001c0001t0001 a0001c0001t0002 a0014c0026t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0014c0026t0001 a0016c0028t0001 a0017c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0002g0065 a0014c0026t0001g0032 a0016c0028t0001g0074 a0017c0032t0001g0195	28	220	0.1273	-18	c.386 others(37): Show c.3864-3364_3864-3347delTTTTTTTTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77559449	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp1 HG01069.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0001 a0001c0001t0003 a0001c0012t0001	a0001c0001t0003g0112 a0001c0012t0001g0111 a0001c0001t0003g0112 a0001c0012t0001g0111	2	218	0.0092	-18	c.632 others(35): Show c.6327-621_6327-604delAAAAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	218	0.0046	-18	c.621 others(37): Show c.6217+4233_6217+4250delTTTTTTTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01943.hp1 HG01243.hp1 HG01255.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0014 a0001c0001 a0001c0012 a0001c0014	a0001c0001t0008 a0001c0012t0001 a0001c0014t0012 a0001c0001t0008 a0001c0012t0001 a0001c0014t0012	a0001c0001t0008g0077 a0001c0012t0001g0111 a0001c0014t0012g0003 a0001c0001t0008g0077 a0001c0012t0001g0111 a0001c0014t0012g0003	3	218	0.0138	-18	c.513 others(37): Show c.5135-5514_5135-5497delATATATATATATATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716128	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG01099.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0022 a0002c0002t0006g0207 a0002c0002t0001g0022 a0002c0002t0006g0207	2	218	0.0092	-18	c.133 others(34): Show c.133+985_133+1002delCAAAAAAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716319	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	218	0.0046	-18	c.133 others(33): Show c.133+794_133+811delATATATATATATATTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01884.hp2 HG02071.hp2 others(2): Show HG00423.hp1 HG01884.hp2 HG02071.hp2 HG02258.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0001 a0001c0001t0006 a0001c0001t0018	a0001c0001t0001g0068 a0001c0001t0001g0161 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0161 a0001c0001t0001g0193 a0001c0001t0006g0117 a0001c0001t0018g0118	5	316	0.0158	-18	c.117 others(39): Show c.1173+12870_1173+12887delTTTTTTTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16439355	GGGGGGCG others(11): Show GGGGGGCGGGGCCGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	182	0.0055	-18	c.-16 others(39): Show c.-161+46599_-161+46616delGCCCCCGGCCCCGCCCCC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484947	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	182	0.0055	-18	c.-16 others(37): Show c.-161+1007_-161+1024delCACACACACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0002 a0011c0007t0002	a0011c0007t0002g0172 a0011c0007t0002g0172	1	182	0.0055	-18	c.-61 others(39): Show c.-614-29774_-614-29757delGTGTGTGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2_chr12_111447214_111604315	111464324	GGTGTGTG others(11): Show GGTGTGTGTGTTTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0006 a0007 others(5): Show a0003 a0006 a0007 a0008 a0012 a0013 a0018 a0019	a0003c0004 a0003c0006 a0003c0007 others(8): Show a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0008c0023 a0012c0022 a0013c0021 a0018c0028 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(10): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0018c0028t0005 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(36): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0018c0028t0005g0208 a0019c0027t0003g0207	39	298	0.1309	-18	c.289 others(35): Show c.2896+320_2896+337delACACACAAACACACACAC		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483188	AACACATA others(11): Show AACACATACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0138	1	298	0.0034	-18	c.252 others(37): Show c.2524+2059_2524+2076delGTGTGTGTGTGTATGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111584377	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0087 a0003c0004t0005g0087	1	298	0.0034	-18	c.251 others(37): Show c.251+14389_251+14406delTTTTTTTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3L_chrX_13313647_13325053	13319623	AATGCCGA others(11): Show AATGCCGAGCTTCTGATAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	2	317	0.0063	-18	c.294 others(25): Show c.294_311delATATCAGAAGCTCGGCAT	p.Glu others(18): Show p.Glu98_Ile104delinsAsp	ATXN3L	ENSG00000123594.7	transcript	ENST00000380622.5	protein_coding	1/1	430/1407	294/1068	98/355			chrX	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	252	0.0040	-18	c.151 others(35): Show c.1517+658_1517+675delAAAAAAAAAAAATATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619526	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02165.hp2 NA20300.hp1 HG01978.hp1 HG02165.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018	a0001c0001t0002g0173 a0001c0001t0013g0251 a0001c0001t0018g0094 a0001c0001t0002g0173 a0001c0001t0013g0251 a0001c0001t0018g0094	3	252	0.0119	-18	c.151 others(35): Show c.1517+656_1517+673delAAAAAAAAAAAAAATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp1 HG01358.hp1 others(2): Show HG01168.hp1 HG01243.hp1 HG01358.hp1 HG02280.hp1 NA18962.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0037 a0003c0003t0020	a0001c0001t0001g0119 a0001c0001t0002g0160 a0001c0001t0015g0193 others(2): Show a0001c0001t0001g0119 a0001c0001t0002g0160 a0001c0001t0015g0193 a0001c0001t0037g0065 a0003c0003t0020g0199	5	252	0.0198	-18	c.151 others(35): Show c.1517+654_1517+671delAAAAAAAAAAAAAAAATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	252	0.0040	-18	c.151 others(35): Show c.1517+652_1517+669delAAAAAAAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641212	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01346.hp2 others(16): Show HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp1 HG02155.hp2 HG02647.hp2 HG03831.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp2 NA18957.hp1 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0011 a0001c0001 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0042 a0001c0001t0051 a0001c0001t0058 a0001c0007t0038 a0005c0011t0008	a0001c0001t0001g0044 a0001c0001t0001g0201 a0001c0001t0002g0048 others(16): Show a0001c0001t0001g0044 a0001c0001t0001g0201 a0001c0001t0002g0048 a0001c0001t0002g0153 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0100 a0001c0001t0005g0126 a0001c0001t0012g0122 a0001c0001t0018g0094 a0001c0001t0020g0169 a0001c0001t0042g0161 a0001c0001t0051g0035 a0001c0001t0058g0018 a0001c0007t0038g0158 a0005c0011t0008g0092	19	252	0.0754	-18	c.862 others(35): Show c.862+1608_862+1625delAAAAAAAAAAAAAAAAGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105853557	AAACAAAC others(11): Show AAACAAACAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0208 a0002c0002t0030g0208	1	252	0.0040	-18	c.250 others(37): Show c.250+22237_250+22254delGTTTTTTGTTTGTTTGTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860130	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG03098.hp2 others(3): Show HG02723.hp1 HG02723.hp2 HG03098.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 a0002c0002t0022 a0002c0002t0030	a0001c0001t0001g0214 a0001c0001t0004g0211 a0001c0001t0004g0219 others(3): Show a0001c0001t0001g0214 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0040g0207 a0002c0002t0022g0220 a0002c0002t0030g0212	6	252	0.0238	-18	c.250 others(37): Show c.250+15664_250+15681delGTATATATATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533847	AAAAAAAA others(11): Show AAAAAAAAAAAATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(12): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02280.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0020 others(2): Show a0001c0002t0004 a0001c0002t0013 a0001c0002t0020 a0001c0002t0023 a0001c0002t0035	a0001c0002t0004g0000 a0001c0002t0013g0000 a0001c0002t0020g0000 others(2): Show a0001c0002t0004g0000 a0001c0002t0013g0000 a0001c0002t0020g0000 a0001c0002t0023g0000 a0001c0002t0035g0000	15	408	0.0368	-18	c.-42 others(29): Show c.-4265_-4248delAAAAAAAAAAATAAAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3987		chr12	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18612.hp1 HG03704.hp1 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0024 a0001c0001t0002 a0002c0002t0024	a0001c0001t0002g0052 a0002c0002t0024g0059 a0001c0001t0002g0052 a0002c0002t0024g0059	2	76	0.0263	-18	c.310 others(37): Show c.310-22758_310-22741delATATATATATATATATAT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG01934.hp2 others(7): Show HG01243.hp2 HG01433.hp1 HG01934.hp2 HG02257.hp2 HG02258.hp2 HG02647.hp1 HG03225.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006 a0005c0011t0007	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0006g0010 a0001c0001t0019g0075 a0001c0001t0023g0072 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027 a0005c0011t0007g0004	10	76	0.1316	-18	c.522 others(37): Show c.522+47092_522+47109delACACACACACACACACAC		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303439	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	76	0.0132	-18	c.661 others(39): Show c.661-132295_661-132278delCACACACACACACACACA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03579.hp1 HG00280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0068 a0001c0001t0034g0018 a0001c0001t0003g0068 a0001c0001t0034g0018	2	76	0.0263	-18	c.661 others(37): Show c.661-58395_661-58378delTATATATATATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG04199.hp1 HG03239.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0035 a0003c0006t0003g0034 a0001c0001t0003g0035 a0003c0006t0003g0034	2	76	0.0263	-18	c.54 others(29): Show c.5450_*5467delTTTTTTTTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding					2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33873418	TCACTGGT others(11): Show TCACTGGTCACACTGAGGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG02145.hp2 others(9): Show HG01069.hp2 HG01192.hp2 HG02145.hp2 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG03195.hp1 HG03471.hp1 NA18957.hp2 NA18968.hp1 NA18979.hp2 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0005 a0001c0001 a0003c0003 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0003 a0007c0005t0007	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0199 others(9): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0117 a0001c0001t0005g0146 a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0014 a0007c0005t0007g0264	12	266	0.0451	-18	c.517 others(35): Show c.517-2406_517-2389delTCCTCAGTGTGACCAGTG		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(11): Show CACACAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(29): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01256.hp1 HG01256.hp2 HG01496.hp2 HG02056.hp1 HG02109.hp2 HG02300.hp2 HG02735.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp1 HG03710.hp2 HG03942.hp2 NA18977.hp2 NA18980.hp1 NA18993.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19081.hp1 NA19082.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0200 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0108 a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0005g0124 a0002c0002t0001g0058 a0002c0002t0001g0239 a0002c0002t0001g0243 a0003c0003t0003g0007	32	266	0.1203	-18	c.446 others(37): Show c.446-57543_446-57526delCTCTCTCTCTCTCTGTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933522	CACAGAGA others(11): Show CACAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01346.hp2 HG00408.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0047 a0001c0001t0001g0070	2	266	0.0075	-18	c.446 others(37): Show c.446-57545_446-57528delCTCTCTCTCTCTCTCTGT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02647.hp2 others(5): Show HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 NA20300.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0005 a0001c0001 a0004c0004 a0007c0005	a0001c0001t0001 a0001c0001t0006 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0004c0004t0001 a0007c0005t0007	a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0006g0123 a0001c0001t0006g0126 a0004c0004t0001g0019 a0007c0005t0007g0265	8	266	0.0301	-18	c.446 others(37): Show c.446-57547_446-57530delCTCTCTCTCTCTCTCTCT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01070.hp1 others(4): Show HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01169.hp1 HG01433.hp1 HG02015.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0068 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0133 a0002c0002t0001g0077 a0003c0003t0003g0001 a0003c0003t0003g0012	7	266	0.0263	-18	c.445 others(37): Show c.445+40095_445+40112delTTTTTTTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18986.hp1 HG03491.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0143 a0002c0002t0002g0107 a0001c0001t0002g0143 a0002c0002t0002g0107	2	446	0.0045	-18	c.287 others(33): Show c.287+721_287+738delACACACACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPR2_chrX_153899673_153912166	153901423	GCACACGC others(11): Show GCACACGCACACACCCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01891.hp1 others(30): Show HG01243.hp1 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0007t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0004t0002g0001 a0001c0007t0001g0003 a0003c0006t0001g0001	33	322	0.1025	-18	c.-35 others(29): Show c.-3520_-3503delCACACGCACACACCCTCA		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding					3249		chrX	TogoVar
AVPR2_chrX_153899673_153912166	153901467	ACACACCC others(11): Show ACACACCCTCACACACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	322	0.0031	-18	c.-34 others(29): Show c.-3476_-3459delCACACCCTCACACACGCG		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding					3205		chrX	TogoVar
AVPR2_chrX_153899673_153912166	153901656	ACACACCC others(11): Show ACACACCCTCACACACTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-18	c.-32 others(29): Show c.-3287_-3270delCACACCCTCACACACTCT		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding					3016		chrX	TogoVar
AVP_chr20_3077556_3089724	3088824	CTTTGTTT others(11): Show CTTTGTTTTTGTTTTTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	468	0.0021	-18	c.-41 others(29): Show c.-4168_-4151delAACAAAAACAAAAACAAA		AVP	ENSG00000101200.5	transcript	ENST00000380293.3	protein_coding					4101		chr20	TogoVar
AWAT1_chrX_70229655_70245659	70239158	CCTGAGTG others(11): Show CCTGAGTGGCCATCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG02559.hp2 others(8): Show HG00323.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG03041.hp2 HG03486.hp2 HG06807.hp2 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068	11	315	0.0349	-18	c.633 others(33): Show c.633-572_633-555delGTGGCCATCCCTTTCTGA		AWAT1	ENSG00000204195.4	transcript	ENST00000374521.4	protein_coding	5/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19088.hp1 HG02040.hp1 NA19088.hp1	a0002 a0016 a0002 a0016	a0002c0001 a0016c0026 a0002c0001 a0016c0026	a0002c0001t0001 a0016c0026t0001 a0002c0001t0001 a0016c0026t0001	a0002c0001t0001g0332 a0016c0026t0001g0348 a0002c0001t0001g0332 a0016c0026t0001g0348	2	356	0.0056	-18	c.123 others(37): Show c.1231-8139_1231-8122delTTTTTTTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179439576	TCTGCACA others(11): Show TCTGCACAGGGAAAACATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(73): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0014 a0024	a0001c0002 a0001c0006 a0001c0011 others(6): Show a0001c0002 a0001c0006 a0001c0011 a0001c0021 a0002c0001 a0002c0019 a0012c0014 a0014c0025 a0024c0024	a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 others(6): Show a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0001c0021t0001 a0002c0001t0001 a0002c0019t0001 a0012c0014t0001 a0014c0025t0001 a0024c0024t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(73): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0212 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0006t0001g0137 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0119 a0001c0011t0001g0157 a0001c0021t0001g0130 a0001c0021t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0156 a0002c0019t0001g0044 a0002c0019t0001g0113 a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 a0014c0025t0001g0092 a0024c0024t0001g0145	76	356	0.2135	-18	c.156 others(37): Show c.1564-5384_1564-5367delGAAAACATACTGCACAGG		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	15/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488708	GTCTCTCT others(11): Show GTCTCTCTCTCTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00733.hp2 others(48): Show HG00280.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp1 HG01167.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 NA18906.hp2 NA18945.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0009 a0010 a0018 a0019 a0021	a0001c0006 a0003c0004 a0006c0010 others(5): Show a0001c0006 a0003c0004 a0006c0010 a0009c0013 a0010c0017 a0018c0033 a0019c0031 a0021c0032	a0001c0006t0001 a0003c0004t0001 a0006c0010t0001 others(5): Show a0001c0006t0001 a0003c0004t0001 a0006c0010t0001 a0009c0013t0001 a0010c0017t0001 a0018c0033t0001 a0019c0031t0001 a0021c0032t0001	a0001c0006t0001g0247 a0003c0004t0001g0003 a0003c0004t0001g0005 others(48): Show a0001c0006t0001g0247 a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0016 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0038 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0042 a0003c0004t0001g0043 a0003c0004t0001g0099 a0003c0004t0001g0311 a0003c0004t0001g0317 a0003c0004t0001g0318 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0019 a0006c0010t0001g0039 a0009c0013t0001g0095 a0009c0013t0001g0096 a0010c0017t0001g0204 a0010c0017t0001g0205 a0010c0017t0001g0296 a0018c0033t0001g0319 a0019c0031t0001g0015 a0021c0032t0001g0007	51	356	0.1433	-18	c.209 others(37): Show c.2092-2810_2092-2793delCTCTCTCTCTCTTTCTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	282903	TCCCCTGC others(11): Show TCCCCTGCTGCCCCTGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0076 a0001c0003t0013g0076	1	378	0.0027	-18	c.52 others(29): Show c.5201_*5218delCAGCAGGGGCAGCAGGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					4536		chr16	TogoVar
AXIN1_chr16_282440_357723	304258	CAGCACGA others(11): Show CAGCACGACACCGACGCGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG01891.hp2 HG02486.hp1 HG02717.hp1 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0004t0001g0193	5	378	0.0132	-18	c.125 others(33): Show c.1254+28_1254+45delCCGCGTCGGTGTCGTGCT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	5/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65564088	TCACACAC others(11): Show TCACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 NA18906.hp1 NA20300.hp1 HG02818.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0274 a0001c0002t0005g0287 a0001c0002t0005g0288 a0001c0002t0004g0274 a0001c0002t0005g0287 a0001c0002t0005g0288	3	402	0.0075	-18	c.-27 others(29): Show c.-2773_-2756delTGTGTGTGTGTGTGTGTG		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding					2441		chr17	TogoVar
AXL_chr19_41214223_41266766	41220242	CTCCCCCC others(11): Show CTCCCCCCACCACCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0138 a0008c0014t0001g0138	1	314	0.0032	-18	c.86- others(31): Show c.86-392_86-375delCCCCCCACCACCACCCTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN1_chr8_102821308_102869163	102822170	TCACACAC others(11): Show TCACACACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02647.hp2 others(9): Show HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0002 a0001c0001t0002 a0003c0006t0002	a0001c0001t0002g0016 a0001c0001t0002g0219 a0001c0001t0002g0220 others(7): Show a0001c0001t0002g0016 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0003c0006t0002g0222	12	380	0.0316	-18	c.63 others(29): Show c.6379_*6396delTGTGTGTGTGTGTGTGTG		AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding					4137		chr8	TogoVar
AZU1_chr19_822837_837018	833243	GATAATAA others(11): Show GATAATAATAATAATAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	391	0.0026	-18	c.13 others(29): Show c.1367_*1384delATAATAATAATAATAATA		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1226		chr19	TogoVar
AZU1_chr19_822837_837018	833263	TAATAATA others(11): Show TAATAATAATAATAATAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	391	0.0026	-18	c.13 others(29): Show c.1387_*1404delAATAATAATAATAATAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1246		chr19	TogoVar
AZU1_chr19_822837_837018	833266	TAATAATA others(11): Show TAATAATAATAATAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	391	0.0026	-18	c.13 others(29): Show c.1390_*1407delAATAATAATAATAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1249		chr19	TogoVar

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