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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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
ASCC1_chr10_72091032_72221276	72108064	CTTTTTCT others(14): Show CTTTTTCTTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	216	0.0046	-21	c.958 others(40): Show c.958-10635_958-10615delAAAAAAAAAGAAAAAGAAAAA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	9/9						chr10	TogoVar
ASCC1_chr10_72091032_72221276	72216354	GGCGTAGT others(14): Show GGCGTAGTTTCCTGGGGACCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	216	0.0046	-21	c.-20 others(30): Show c.-202_-182delTGGGTCCCCAGGAAACTACGC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					79		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218160	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	216	0.0046	-21	c.-20 others(32): Show c.-2008_-1988delATATATATATATATATTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1885		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218162	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG04184.hp2 HG01081.hp2 HG01167.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0002g0100 a0001c0001t0001g0028 a0001c0001t0001g0213 a0001c0001t0002g0100	3	216	0.0139	-21	c.-20 others(32): Show c.-2010_-1990delATATATATATATATATATTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1887		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218164	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	216	0.0046	-21	c.-20 others(32): Show c.-2012_-1992delATATATATATATATATATATT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1889		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218166	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03540.hp1 HG02486.hp1 HG03540.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0007 a0001c0001t0001 a0009c0009t0007	a0001c0001t0001g0148 a0009c0009t0007g0160 a0001c0001t0001g0148 a0009c0009t0007g0160	2	216	0.0093	-21	c.-20 others(32): Show c.-2014_-1994delATATATATATATATATATATA		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1891		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100723881	TATATATA others(14): Show TATATATATATATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0199 a0003c0004t0004g0199	1	314	0.0032	-21	c.190 others(40): Show c.1902+1637_1902+1657delTATAAATATATATATATATAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCL5_chr1_201108943_201132184	201128035	AGGAGGCC others(14): Show AGGAGGCCTGTGCTGGGAGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	-21	c.-14 others(32): Show c.-1478_-1458delCAGCTCCCAGCACAGGCCTCC		ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding					852		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	182	0.0055	-21	c.421 others(38): Show c.421-8540_421-8520delTTTTTTTTTTTTTTTTTTTTT		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27						chr1	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03540.hp2 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0184 a0001c0001t0007g0185	2	258	0.0078	-21	c.103 others(40): Show c.103+10054_103+10074delTTTTTTTTTTTTTTTTTTTTT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02630.hp2 others(3): Show HG02257.hp2 HG02622.hp1 HG02630.hp2 HG03579.hp2 HG06807.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0038 a0001c0005t0040	a0001c0001t0006g0247 a0001c0001t0008g0327 a0001c0001t0010g0353 others(3): Show a0001c0001t0006g0247 a0001c0001t0008g0327 a0001c0001t0010g0353 a0001c0001t0021g0337 a0001c0001t0038g0338 a0001c0005t0040g0314	6	370	0.0162	-21	c.491 others(38): Show c.491+5772_491+5792delTTTTTTTTTTTTTTTTTTTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375459	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0289 a0001c0001t0014g0289	1	370	0.0027	-21	c.492 others(40): Show c.492-13673_492-13653delATATATATATATATATATATA		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6						chr11	TogoVar
ASTN1_chr1_176856067_177169712	177024886	CCTTCTTC others(14): Show CCTTCTTCCTCACAGACACCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02615.hp1 others(7): Show HG02109.hp1 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0005t0004	a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0013 others(7): Show a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0013 a0001c0002t0002g0032 a0001c0002t0007g0020 a0001c0002t0007g0069 a0001c0002t0007g0075 a0001c0002t0007g0082 a0001c0005t0004g0072 a0001c0005t0004g0085	10	112	0.0893	-21	c.112 others(38): Show c.1121-175_1121-155delATGGTGTCTGTGAGGAAGAAG		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	5/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116589626	CCTTAAAC others(14): Show CCTTAAACAGATTACAGTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01258.hp1 others(6): Show HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG03471.hp1 NA18906.hp1 NA19011.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0016	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002 a0001c0003t0002 a0001c0003t0006 a0003c0016t0004	a0001c0001t0002g0040 a0001c0001t0006g0079 a0001c0001t0015g0045 others(6): Show a0001c0001t0002g0040 a0001c0001t0006g0079 a0001c0001t0015g0045 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0003t0002g0044 a0001c0003t0006g0017 a0003c0016t0004g0027	9	102	0.0882	-21	c.335 others(42): Show c.3355+28677_3355+28697delAAACACTGTAATCTGTTTAAG		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060325	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG02698.hp1 others(2): Show HG00099.hp1 HG01256.hp2 HG02698.hp1 NA19065.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003 a0001c0009t0004	a0001c0001t0003g0063 a0001c0001t0008g0008 a0001c0002t0002g0023 others(2): Show a0001c0001t0003g0063 a0001c0001t0008g0008 a0001c0002t0002g0023 a0001c0002t0003g0041 a0001c0009t0004g0032	5	102	0.0490	-21	c.127 others(42): Show c.1277-20381_1277-20361delCTCTCTTTCTTTCTTTCTTTC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060485	GAATGAAA others(14): Show GAATGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02615.hp2 HG02698.hp1 others(3): Show HG01515.hp2 HG02615.hp2 HG02698.hp1 HG03041.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0002c0004t0002 a0003c0016t0004	a0001c0001t0001g0095 a0001c0001t0002g0051 a0001c0001t0006g0016 others(3): Show a0001c0001t0001g0095 a0001c0001t0002g0051 a0001c0001t0006g0016 a0001c0002t0003g0041 a0002c0004t0002g0005 a0003c0016t0004g0027	6	102	0.0588	-21	c.127 others(42): Show c.1277-20541_1277-20521delTCTTTCTTTCTTTCTTTCATT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117144660	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01258.hp2 others(15): Show HG00639.hp2 HG01169.hp2 HG01258.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG02559.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG04199.hp1 HG04199.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19065.hp1 NA19066.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0022 a0001c0025 a0002c0004 a0003c0019 a0005c0015 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0007 a0001c0005t0005 a0001c0022t0001 a0001c0025t0001 a0002c0004t0002 a0003c0019t0002 a0005c0015t0003 a0006c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0002g0070 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0002g0070 a0001c0001t0011g0002 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0003g0022 a0001c0002t0004g0043 a0001c0002t0004g0092 a0001c0003t0007g0074 a0001c0005t0005g0084 a0001c0022t0001g0020 a0001c0025t0001g0080 a0002c0004t0002g0005 a0003c0019t0002g0025 a0005c0015t0003g0019 a0006c0020t0001g0039	18	102	0.1765	-21	c.101 others(40): Show c.1016-3203_1016-3183delAAAAAAAAAAAAAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32376240	TATTTTAT others(14): Show TATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02451.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0016 a0003c0004t0003g0096 a0003c0004t0003g0016 a0003c0004t0003g0096	2	282	0.0071	-21	c.252 others(38): Show c.252+7128_252+7148delATTTTATTTTAATTTTATTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32379161	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01074.hp2 others(11): Show HG00140.hp1 HG00642.hp1 HG01074.hp2 HG01169.hp2 HG01243.hp2 HG02300.hp2 HG02486.hp2 HG02698.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03688.hp1 NA19003.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0013 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0008t0001 a0001c0008t0004 a0002c0003t0001	a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0083 others(11): Show a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0013g0089 a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0052 a0001c0008t0001g0053 a0001c0008t0004g0044 a0002c0003t0001g0060	14	282	0.0497	-21	c.252 others(40): Show c.252+10059_252+10079delTTTTTTTTTTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33578458	CCCGCCGC others(14): Show CCCGCCGCCGCCGCCGCCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0174 a0003c0003t0031g0174	1	220	0.0046	-21	c.-15 others(30): Show c.-153_-133delGCCGCCGCCGCCGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				133	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33713229	GTTTTTTT others(14): Show GTTTTTTTTGTTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 NA19043.hp2 others(1): Show HG01496.hp1 HG02486.hp1 NA19043.hp2 NA20300.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0002 a0001c0001t0047 a0001c0001t0075 others(1): Show a0001c0001t0002 a0001c0001t0047 a0001c0001t0075 a0014c0019t0058	a0001c0001t0002g0068 a0001c0001t0047g0190 a0001c0001t0075g0184 others(1): Show a0001c0001t0002g0068 a0001c0001t0047g0190 a0001c0001t0075g0184 a0014c0019t0058g0002	4	220	0.0182	-21	c.880 others(40): Show c.880-18730_880-18710delGTTTTGTTTTGTTTTTTTTTT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD2B_chr2_23743664_23932123	23745406	AAGGAAGG others(14): Show AAGGAAGGAAGGAAGGAAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	246	0.0041	-21	c.66 others(32): Show c.6619_*6639delCCCTTTCCTTCCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3257		chr2	TogoVar
ATAD5_chr17_30826966_30900869	30891888	GTTGCCCA others(14): Show GTTGCCCAGGATGGTCTCGAAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0200 a0001c0001t0007g0200	1	286	0.0035	-21	c.425 others(38): Show c.4259-696_4259-676delTGCCCAGGATGGTCTCGAACT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879508	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	384	0.0026	-21	c.-15 others(32): Show c.-1541_-1521delGAAAGAAAGAAAGAAAGAAAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding					1176		chr19	TogoVar
ATE1_chr10_121735424_121933031	121786202	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02559.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0017 a0001c0002t0002g0018	2	320	0.0063	-21	c.137 others(40): Show c.1378+3946_1378+3966delAAAAAAAAAAAAAAAAAAAAA		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	11/11						chr10	TogoVar
ATE1_chr10_121735424_121933031	121851090	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0126 a0001c0002t0006g0126	1	320	0.0031	-21	c.976 others(38): Show c.976-9848_976-9828delTTTTTTTTTTTTTTTTTTTTT		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11						chr10	TogoVar
ATF7IP2_chr16_10381061_10488638	10479958	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18991.hp2 NA19063.hp2 HG02523.hp2 NA18991.hp2 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0008 a0002c0001t0001g0041 a0002c0001t0002g0142 a0002c0001t0001g0008 a0002c0001t0001g0041 a0002c0001t0002g0142	3	376	0.0080	-21	c.155 others(38): Show c.1550-898_1550-878delTTTTTTTTTTTTTTTTTTTTT		ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATG12_chr5_115823200_115846565	115844949	CTAACTCT others(14): Show CTAACTCTTTGCTAAATGCATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02486.hp2 others(8): Show HG01496.hp2 HG01891.hp1 HG02486.hp2 HG02559.hp2 HG02818.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0004c0004t0015	a0001c0001t0006g0032 a0001c0001t0008g0033 a0001c0001t0016g0062 others(6): Show a0001c0001t0006g0032 a0001c0001t0008g0033 a0001c0001t0016g0062 a0001c0001t0016g0066 a0001c0001t0025g0067 a0001c0001t0029g0063 a0001c0001t0032g0055 a0001c0001t0033g0065 a0004c0004t0015g0052	11	402	0.0274	-21	c.-34 others(32): Show c.-3418_-3398delAATGCATTTAGCAAAGAGTTA		ATG12	ENSG00000145782.13	transcript	ENST00000509910.2	protein_coding					3385		chr5	TogoVar
ATG14_chr14_55361391_55416830	55402927	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03225.hp1 HG02071.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0162 a0001c0001t0003g0325 a0001c0001t0002g0162 a0001c0001t0003g0325	2	366	0.0055	-21	c.222 others(38): Show c.222-5514_222-5494delATATATATATATATATATATA		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG14_chr14_55361391_55416830	55407625	TCTGCTAC others(14): Show TCTGCTACCTGCTGCTGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	366	0.0027	-21	c.221 others(38): Show c.221+3956_221+3976delCCCAGCAGCAGCAGGTAGCAG		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG3_chr3_112527510_112566962	112536920	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG03130.hp2 others(2): Show HG02486.hp1 HG02723.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057	5	376	0.0133	-21	c.667 others(36): Show c.667-339_667-319delTTTTTTTTTTTTTTTTTTTTT		ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	9/11						chr3	TogoVar
ATG4D_chr19_10538904_10558418	10548003	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG04184.hp1 NA18946.hp1 others(7): Show HG02809.hp1 HG04184.hp1 NA18946.hp1 NA18968.hp1 NA18970.hp1 NA18981.hp2 NA18995.hp1 NA19002.hp2 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0003t0003g0008 others(2): Show a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0003t0003g0008 a0001c0003t0003g0057 a0001c0003t0003g0058	10	406	0.0246	-21	c.835 others(36): Show c.835+775_835+795delTTTTTTTTTTTTTTTTTTTTT		ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG7_chr3_11267397_11562665	11519539	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02257.hp1 others(15): Show HG01943.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0019 a0001c0002t0007 others(5): Show a0001c0001t0006 a0001c0001t0019 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0035 a0001c0002t0037 a0001c0002t0042	a0001c0001t0006g0152 a0001c0001t0006g0182 a0001c0001t0019g0130 others(15): Show a0001c0001t0006g0152 a0001c0001t0006g0182 a0001c0001t0019g0130 a0001c0001t0019g0194 a0001c0002t0007g0098 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0176 a0001c0002t0007g0177 a0001c0002t0007g0178 a0001c0002t0013g0133 a0001c0002t0013g0151 a0001c0002t0013g0252 a0001c0002t0014g0181 a0001c0002t0035g0271 a0001c0002t0037g0171 a0001c0002t0042g0170	18	292	0.0616	-21	c.208 others(42): Show c.2080-35254_2080-35234delTTTTTTTTTTTTTTTTTTTTT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38377363	TCTCCGCC others(14): Show TCTCCGCCTGTATCTCCTCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01496.hp2 others(13): Show HG00140.hp1 HG01099.hp1 HG01496.hp2 HG02258.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0013 a0001c0003t0014 a0001c0003t0016 a0001c0003t0025 a0002c0002t0032 a0003c0004t0003 a0005c0009t0020	a0001c0001t0001g0094 a0001c0001t0004g0064 a0001c0003t0003g0008 others(13): Show a0001c0001t0001g0094 a0001c0001t0004g0064 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0004g0131 a0001c0003t0013g0003 a0001c0003t0014g0001 a0001c0003t0014g0002 a0001c0003t0016g0007 a0001c0003t0025g0014 a0002c0002t0032g0190 a0003c0004t0003g0039 a0005c0009t0020g0005	16	236	0.0678	-21	c.-12 others(30): Show c.-124_-104delGGCGAGGAGATACAGGCGGAG		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding					91		chr2	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00733.hp2 HG01081.hp1 others(15): Show HG00323.hp1 HG00733.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG02027.hp2 HG02056.hp1 HG02602.hp1 HG03139.hp2 HG03688.hp1 HG04228.hp2 NA18973.hp1 NA19063.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0009 a0030 a0009 a0030	a0009c0007 a0030c0050 a0009c0007 a0030c0050	a0009c0007t0001 a0009c0007t0007 a0030c0050t0007 a0009c0007t0001 a0009c0007t0007 a0030c0050t0007	a0009c0007t0001g0001 a0009c0007t0001g0013 a0009c0007t0001g0043 others(8): Show a0009c0007t0001g0001 a0009c0007t0001g0013 a0009c0007t0001g0043 a0009c0007t0001g0066 a0009c0007t0001g0067 a0009c0007t0001g0077 a0009c0007t0001g0082 a0009c0007t0001g0100 a0009c0007t0001g0106 a0009c0007t0007g0001 a0030c0050t0007g0001	18	414	0.0435	-21	c.148 others(30): Show c.1488_1508delGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln496_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2076/4702	1488/3573	496/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP10A_chr15_25673712_25868327	25847609	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0038 a0038	a0038c0050 a0038c0050	a0038c0050t0001 a0038c0050t0001	a0038c0050t0001g0054 a0038c0050t0001g0054	1	300	0.0033	-21	c.449 others(40): Show c.449+15018_449+15038delAAAAAAAAAAAAAAAAAAAAA		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160755837	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0043 a0002c0013t0043	a0002c0013t0043g0181 a0002c0013t0043g0181	1	236	0.0042	-21	c.-33 others(42): Show c.-331+29701_-331+29721delATATATATATATATATATATT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP11A_chr13_112685038_112892168	112802425	CCACCCAG others(14): Show CCACCCAGATAGTCAACCCATT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0046 a0001c0011t0046	a0001c0011t0046g0011 a0001c0011t0046g0011	1	254	0.0039	-21	c.163 others(38): Show c.163-2511_163-2491delTCACCCAGATAGTCAACCCAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139742873	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19080.hp1 NA18982.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0193 a0001c0001t0002g0180 a0001c0001t0002g0193	2	234	0.0086	-21	c.303 others(38): Show c.3030+665_3030+685delATATATATATATATATATTTT		ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	26/29						chrX	TogoVar
ATP12A_chr13_24675408_24717472	24709521	GGGCCTGC others(14): Show GGGCCTGCCCCGAGAATTCACT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0054 a0013c0025t0001g0054	1	382	0.0026	-21	c.261 others(36): Show c.2617+37_2617+57delCCTGCCCCGAGAATTCACTGG		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A1_chr19_19640198_19668676	19666606	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0059 a0001c0006t0001g0059	1	380	0.0026	-21	c.-29 others(32): Show c.-2961_-2941delAAAAAAAAAAAAAAAAAAAAC		ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding					2931		chr19	TogoVar
ATP13A1_chr19_19640198_19668676	19666607	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01099.hp2 others(28): Show HG00099.hp2 HG01070.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01496.hp2 HG01517.hp2 HG01975.hp2 HG01993.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0012 a0002c0005 others(1): Show a0001c0001 a0001c0012 a0002c0005 a0005c0014	a0001c0001t0001 a0001c0012t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0002c0005t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0012t0001g0080 a0001c0012t0001g0081 a0002c0005t0001g0014 a0005c0014t0001g0149	31	380	0.0816	-21	c.-29 others(32): Show c.-2962_-2942delAAAAAAAAAAAAAAAAAAAAA		ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding					2932		chr19	TogoVar
ATP13A4_chr3_193393967_193559895	193418121	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01261.hp2 others(7): Show HG00423.hp1 HG00423.hp2 HG01261.hp2 HG01928.hp2 HG02027.hp1 HG02083.hp1 HG02559.hp2 NA18940.hp1 NA18951.hp1 NA19009.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 a0002c0003t0001 a0003c0005t0001 a0003c0005t0003	a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0001g0193 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0001g0193 a0001c0001t0001g0249 a0001c0001t0009g0246 a0001c0004t0001g0269 a0002c0003t0001g0075 a0002c0003t0001g0131 a0003c0005t0001g0280 a0003c0005t0003g0291	10	302	0.0331	-21	c.284 others(40): Show c.2843-3392_2843-3372delTTTTTTTTTTTTTTTTTTTTT		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	25/29						chr3	TogoVar
ATP1B2_chr17_7645926_7662770	7648567	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0006 a0001c0001t0034g0006	1	440	0.0023	-21	c.-29 others(32): Show c.-2951_-2931delAAAAAAAAAAAAAAAAAAAAA		ATP1B2	ENSG00000129244.9	transcript	ENST00000250111.9	protein_coding					2358		chr17	TogoVar
ATP1B3_chr3_141871643_141931549	141890285	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02738.hp1 HG03710.hp2 HG02698.hp1 HG02738.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0002g0146 a0001c0001t0002g0325 a0001c0001t0001g0144 a0001c0001t0002g0146 a0001c0001t0002g0325	3	408	0.0074	-21	c.110 others(40): Show c.110-13320_110-13300delTTTTTTTTTTTTTTTTTTTTT		ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2A3_chr17_3918873_3969437	3966363	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0007 a0002c0024t0007	a0002c0024t0007g0043 a0002c0024t0007g0043	1	332	0.0030	-21	c.-20 others(32): Show c.-2093_-2073delAAAAAAAAAAAAAAAAAAAAA		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding					1927		chr17	TogoVar
ATP2B3_chrX_153512642_153587929	153551601	GCTTAGAG others(14): Show GCTTAGAGATGATGAAAATTTT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0017 a0001c0001t0051g0017	1	267	0.0038	-21	c.182 others(40): Show c.1823+1339_1823+1359delTAGAGATGATGAAAATTTTCT		ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding	12/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203674637	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02572.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0149 a0001c0006t0002g0317 a0001c0001t0001g0149 a0001c0006t0002g0317	2	318	0.0063	-21	c.-46 others(40): Show c.-464-8090_-464-8070delTTTTTTTTTTTTTTTTTTTTT		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130936243	CCTTGGGG others(14): Show CCTTGGGGAAGATTTGGGCAAT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19074.hp1 NA19066.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	382	0.0052	-21	c.325 others(38): Show c.325-1169_325-1149delGGCAATCTTGGGGAAGATTTG		ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	5/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP5F1A_chr18_46075248_46103296	46092180	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(68): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18947.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA19057.hp1 NA19058.hp2 NA19078.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 others(30): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0002t0010 a0001c0002t0032 a0001c0002t0119 a0001c0002t0121 a0001c0007t0003	a0001c0001t0003g0003 a0001c0001t0003g0047 a0001c0001t0003g0232 others(48): Show a0001c0001t0003g0003 a0001c0001t0003g0047 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0014g0020 a0001c0001t0014g0046 a0001c0001t0024g0019 a0001c0001t0033g0039 a0001c0001t0034g0240 a0001c0001t0034g0258 a0001c0001t0035g0045 a0001c0001t0036g0043 a0001c0001t0037g0044 a0001c0001t0040g0272 a0001c0001t0040g0273 a0001c0001t0099g0236 a0001c0001t0100g0248 a0001c0001t0101g0239 a0001c0001t0102g0198 a0001c0001t0105g0244 a0001c0001t0106g0230 a0001c0001t0107g0241 a0001c0001t0108g0245 a0001c0001t0109g0252 a0001c0001t0110g0259 a0001c0001t0111g0254 a0001c0001t0112g0256 a0001c0001t0113g0255 a0001c0001t0114g0242 a0001c0001t0115g0243 a0001c0001t0116g0233 a0001c0001t0120g0247 a0001c0001t0122g0207 a0001c0001t0123g0251 a0001c0002t0010g0041 a0001c0002t0010g0042 a0001c0002t0010g0203 a0001c0002t0010g0214 a0001c0002t0032g0212 a0001c0002t0032g0215 a0001c0002t0119g0213 a0001c0002t0121g0202 a0001c0007t0003g0231	71	390	0.1821	-21	c.140 others(36): Show c.140-350_140-330delATTATTATTATTATTATTATT		ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11						chr18	TogoVar

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