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
ATAD3B_chr1_1466765_1502848	1475648	GCACCAGC others(17): Show GCACCAGCGCTCGCCCTGCACTCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG01884.hp2 HG02572.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0011 a0008c0012t0011	a0008c0012t0011g0188 a0008c0012t0011g0189 a0008c0012t0011g0188 a0008c0012t0011g0189	2	276	0.0073	-24	c.206 others(41): Show c.206-1623_206-1600delCCAGCGCTCGCCCTGCACTCCACA		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATCAY_chr19_3875685_3933082	3879497	AAAAAAAA others(17): Show AAAAAAAAAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02148.hp1 HG02647.hp2 others(2): Show HG02145.hp2 HG02148.hp1 HG02647.hp2 HG02886.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0002g0039 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0002g0039 a0001c0001t0002g0077 a0001c0001t0015g0160	5	384	0.0130	-24	c.-15 others(35): Show c.-1552_-1529delAAAAAAAAAAAGAAAGAAAGAAAG		ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding					1187		chr19	TogoVar
ATE1_chr10_121735424_121933031	121919016	ATAAAATG others(17): Show ATAAAATGGACCAATCAGCACTCTG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03927.hp2 HG03688.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0003g0082 a0001c0001t0001g0083 a0001c0001t0003g0082	2	320	0.0063	-24	c.233 others(41): Show c.233+3309_233+3332delCAGAGTGCTGATTGGTCCATTTTA		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	3/11						chr10	TogoVar
ATE1_chr10_121735424_121933031	121927954	TCGGCCCC others(17): Show TCGGCCCCGCGAACGCTCAGCCGCC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18612.hp1 HG00621.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0002 a0001c0001t0013g0001 a0001c0001t0013g0002	2	320	0.0063	-24	c.-29 others(30): Show c.-29_-6delGGCGGCTGAGCGTTCGCGGGGCCG		ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	1/12				6		chr10	TogoVar
ATF1_chr12_50759101_50826162	50785284	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02109.hp1 HG02109.hp2 others(17): Show HG01071.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 others(4): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0006t0001 a0002c0005t0001	a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0325 others(17): Show a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0325 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0334 a0001c0002t0006g0295 a0001c0002t0006g0301 a0001c0002t0006g0302 a0001c0002t0006g0304 a0001c0002t0006g0306 a0001c0002t0007g0296 a0001c0002t0007g0297 a0001c0002t0013g0303 a0001c0002t0014g0327 a0001c0006t0001g0326 a0002c0005t0001g0333	20	382	0.0524	-24	c.93+ others(39): Show c.93+5078_93+5101delCACACACACACACACACACACACA		ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP2_chr16_10381061_10488638	10470823	GTATATAT others(17): Show GTATATATATATATATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19060.hp1 NA19064.hp1 others(4): Show NA18946.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp2 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0066 a0002c0001t0001g0092 others(3): Show a0002c0001t0001g0001 a0002c0001t0001g0066 a0002c0001t0001g0092 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101	7	376	0.0186	-24	c.135 others(43): Show c.1353-1279_1353-1256delATATATATGTGTGTGTATATATAT		ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP2_chr16_10381061_10488638	10479958	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02818.hp2 others(4): Show HG02258.hp2 HG02615.hp1 HG02818.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA21309.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0003 a0001c0005 a0003c0004 others(1): Show a0001c0003 a0001c0005 a0003c0004 a0009c0021	a0001c0003t0008 a0001c0005t0006 a0001c0005t0016 others(3): Show a0001c0003t0008 a0001c0005t0006 a0001c0005t0016 a0001c0005t0018 a0003c0004t0002 a0009c0021t0002	a0001c0003t0008g0026 a0001c0003t0008g0027 a0001c0005t0006g0028 others(4): Show a0001c0003t0008g0026 a0001c0003t0008g0027 a0001c0005t0006g0028 a0001c0005t0016g0030 a0001c0005t0018g0263 a0003c0004t0002g0163 a0009c0021t0002g0189	7	376	0.0186	-24	c.155 others(41): Show c.1550-901_1550-878delTTTTTTTTTTTTTTTTTTTTTTTT		ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP2_chr16_10381061_10488638	10488560	GAGAGAGA others(17): Show GAGAGAGAAGCAGAGAGACAGGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02451.hp1 others(15): Show HG01243.hp1 HG02145.hp2 HG02451.hp1 HG02630.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0004 a0001c0002 a0001c0005 a0003c0004	a0001c0002t0003 a0001c0005t0006 a0003c0004t0002 a0001c0002t0003 a0001c0005t0006 a0003c0004t0002	a0001c0002t0003g0004 a0001c0002t0003g0283 a0001c0002t0003g0284 others(13): Show a0001c0002t0003g0004 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0306 a0001c0002t0003g0314 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0363 a0001c0005t0006g0005 a0001c0005t0006g0029 a0001c0005t0006g0367 a0001c0005t0006g0368 a0001c0005t0006g0369 a0001c0005t0006g0370 a0001c0005t0006g0371 a0003c0004t0002g0156	18	376	0.0479	-24	c.63 others(35): Show c.6312_*6335delAGAGAGAAGCAGAGAGACAGGCAA		ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding					4923		chr16	TogoVar
ATF7IP_chr12_14360682_14507930	14439840	AATCCATC others(17): Show AATCCATCCATCCATCCATCCATCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01261.hp2 others(4): Show HG00639.hp1 HG00741.hp2 HG01261.hp2 HG02004.hp2 NA18984.hp2 NA19003.hp2 NA19074.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0014 a0002c0002 a0003c0003 a0003c0014	a0002c0002t0001 a0003c0003t0013 a0003c0014t0013 a0002c0002t0001 a0003c0003t0013 a0003c0014t0013	a0002c0002t0001g0301 a0003c0003t0013g0159 a0003c0003t0013g0160 others(4): Show a0002c0002t0001g0301 a0003c0003t0013g0159 a0003c0003t0013g0160 a0003c0003t0013g0161 a0003c0003t0013g0162 a0003c0014t0013g0163 a0003c0014t0013g0164	7	346	0.0202	-24	c.192 others(43): Show c.1929+1598_1929+1621delATCCATCCATCCATCCATCCATCC		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14494284	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	346	0.0029	-24	c.328 others(43): Show c.3281-1920_3281-1897delATATATATATATATATATATATAT		ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7_chr12_53507054_53631382	53539686	CAATGAAT others(17): Show CAATGAATGAATGAATGAATGAATG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	330	0.0030	-24	c.265 others(41): Show c.265-2158_265-2135delCATTCATTCATTCATTCATTCATT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	4/11						chr12	TogoVar
ATG10_chr5_81967023_82261133	82175873	TCACACAC others(17): Show TCACACACACACACGCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01192.hp2 others(5): Show HG00323.hp1 HG00323.hp2 HG01192.hp2 HG01981.hp1 HG02698.hp1 NA18939.hp1 NA18962.hp2 NA18984.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0006 a0005c0005t0010 a0005c0005t0029 a0002c0002t0006 a0005c0005t0010 a0005c0005t0029	a0002c0002t0006g0095 a0005c0005t0010g0001 a0005c0005t0010g0003 others(5): Show a0002c0002t0006g0095 a0005c0005t0010g0001 a0005c0005t0010g0003 a0005c0005t0010g0006 a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0068 a0005c0005t0029g0005	8	226	0.0354	-24	c.356 others(41): Show c.356-2605_356-2582delACGCACACACACACACACACACAC		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG12_chr5_115823200_115846565	115842372	AGGCCCTG others(17): Show AGGCCCTGGAGACTTCCCGGGGCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0076 a0001c0001t0026g0076	1	402	0.0025	-24	c.-84 others(33): Show c.-844_-821delGGGCCCCGGGAAGTCTCCAGGGCC		ATG12	ENSG00000145782.13	transcript	ENST00000509910.2	protein_coding					808		chr5	TogoVar
ATG13_chr11_46612553_46679518	46622076	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp1 HG01169.hp1 others(19): Show HG00099.hp2 HG01123.hp1 HG01169.hp1 HG01258.hp2 HG01981.hp1 HG02004.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 NA18942.hp1 NA19010.hp1 NA19068.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(19): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0207 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0014g0027 a0001c0001t0019g0022	22	218	0.1009	-24	c.-70 others(41): Show c.-70+4215_-70+4238delATATATATATATATATATATATAT		ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG14_chr14_55361391_55416830	55402922	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19083.hp1 NA18963.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	2	366	0.0055	-24	c.222 others(41): Show c.222-5512_222-5489delATATATATATATATATATATTTTT		ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9						chr14	TogoVar
ATG2B_chr14_96274195_96368341	96308233	TATATATA others(17): Show TATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03491.hp1 HG03942.hp2 others(13): Show HG02109.hp2 HG03491.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp2 NA18965.hp2 NA18968.hp1 NA18975.hp2 NA18978.hp2 NA19001.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19064.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0006 a0001c0002 a0001c0005 a0004c0006	a0001c0002t0001 a0001c0002t0060 a0001c0005t0005 others(4): Show a0001c0002t0001 a0001c0002t0060 a0001c0005t0005 a0001c0005t0007 a0001c0005t0038 a0001c0005t0039 a0004c0006t0010	a0001c0002t0001g0308 a0001c0002t0060g0266 a0001c0005t0005g0027 others(13): Show a0001c0002t0001g0308 a0001c0002t0060g0266 a0001c0005t0005g0027 a0001c0005t0005g0045 a0001c0005t0007g0044 a0001c0005t0007g0047 a0001c0005t0007g0049 a0001c0005t0007g0051 a0001c0005t0007g0060 a0001c0005t0007g0065 a0001c0005t0007g0066 a0001c0005t0007g0067 a0001c0005t0007g0102 a0001c0005t0038g0055 a0001c0005t0039g0050 a0004c0006t0010g0336	16	356	0.0449	-24	c.430 others(43): Show c.4303+1196_4303+1219delGTGTGTATATATATATATATATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG4A_chrX_108086778_108159671	108148020	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01975.hp2 HG01978.hp1 others(8): Show HG01361.hp2 HG01975.hp2 HG01978.hp1 HG03098.hp1 HG03831.hp1 NA18975.hp2 NA19010.hp1 NA19077.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0187	11	249	0.0442	-24	c.815 others(41): Show c.815-2099_815-2076delATATATATATATATATATATATAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG7_chr3_11267397_11562665	11372819	CGCGTGTG others(17): Show CGCGTGTGCGTGTGTGTGCGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(7): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02723.hp2 HG02809.hp1 HG03098.hp2 HG03453.hp2 HG06807.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0004 a0001c0001t0006 a0005c0008t0004 a0001c0001t0004 a0001c0001t0006 a0005c0008t0004	a0001c0001t0004g0148 a0001c0001t0004g0265 a0001c0001t0004g0266 others(7): Show a0001c0001t0004g0148 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0273 a0001c0001t0006g0264 a0001c0001t0006g0269 a0001c0001t0006g0272 a0005c0008t0004g0270	10	292	0.0343	-24	c.187 others(43): Show c.1876-7135_1876-7112delCGTGCGTGCGTGTGCGTGTGTGTG		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11462841	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02922.hp2 others(4): Show HG02486.hp1 HG02615.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0259 others(4): Show a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260	7	292	0.0240	-24	c.207 others(45): Show c.2079+35951_2079+35974delATTTATTTATTTATTTATTTATTT		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38325661	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01975.hp1 HG01167.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0203 a0002c0002t0001g0185 a0002c0002t0001g0203	2	236	0.0085	-24	c.364 others(41): Show c.364-6666_364-6643delGTGTGTGTGTGTGTGTGTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38325675	CACACACA others(17): Show CACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02602.hp2 NA18943.hp2 others(3): Show HG02135.hp1 HG02602.hp2 NA18943.hp2 NA18998.hp2 NA19063.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0074 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show a0001c0001t0002g0074 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0141	6	236	0.0254	-24	c.364 others(41): Show c.364-6680_364-6657delACTGGTGTGTGTGTGTGTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38335284	CTTTACAA others(17): Show CTTTACAAAAATGTTCATTAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp2 NA18943.hp2 others(12): Show HG00423.hp1 HG02132.hp2 NA18943.hp2 NA18950.hp1 NA18955.hp1 NA18995.hp2 NA19003.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0037 a0001c0001t0006 a0001c0001t0012 a0001c0001t0037	a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 others(12): Show a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0146 a0001c0001t0012g0133 a0001c0001t0012g0136 a0001c0001t0012g0145 a0001c0001t0037g0132	15	236	0.0636	-24	c.363 others(41): Show c.363+7960_363+7983delACTGCTAATGAACATTTTTGTAAA		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(17): Show ACAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp2 NA18944.hp1 NA18982.hp1 others(1): Show HG00609.hp2 NA18944.hp1 NA18982.hp1 NA18993.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0006 a0014c0018t0001g0062 a0014c0018t0001g0006 a0014c0018t0001g0062	4	414	0.0097	-24	c.148 others(33): Show c.1485_1508delGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln495_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2073/4702	1485/3573	495/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATOSA_chr15_52576321_52684388	52622960	TATAAATA others(17): Show TATAAATAAATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp2 others(59): Show HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG01255.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG03225.hp1 HG03453.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19064.hp1 NA19075.hp2 NA19077.hp1 NA19082.hp1 NA19088.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0011	a0001c0001 a0001c0003 a0004c0005 others(3): Show a0001c0001 a0001c0003 a0004c0005 a0005c0008 a0008c0016 a0011c0017	a0001c0001t0005 a0001c0003t0001 a0004c0005t0001 others(4): Show a0001c0001t0005 a0001c0003t0001 a0004c0005t0001 a0004c0005t0012 a0005c0008t0001 a0008c0016t0001 a0011c0017t0001	a0001c0001t0005g0222 a0001c0003t0001g0001 a0001c0003t0001g0007 others(52): Show a0001c0001t0005g0222 a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0267 a0004c0005t0001g0117 a0004c0005t0001g0118 a0004c0005t0001g0120 a0004c0005t0001g0194 a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0197 a0004c0005t0001g0198 a0004c0005t0001g0245 a0004c0005t0001g0246 a0004c0005t0001g0247 a0004c0005t0001g0248 a0004c0005t0012g0342 a0005c0008t0001g0199 a0005c0008t0001g0208 a0008c0016t0001g0127 a0011c0017t0001g0139	62	362	0.1713	-24	c.17- others(39): Show c.17-9127_17-9104delTTATTTATTTATTTATTTATTTAT		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758701	ACTCATTC others(17): Show ACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03098.hp1 HG03486.hp2 others(1): Show HG02027.hp1 HG03098.hp1 HG03486.hp2 NA18977.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0007c0016 a0002c0002 a0004c0004 a0007c0016	a0002c0002t0001 a0004c0004t0001 a0007c0016t0001 a0002c0002t0001 a0004c0004t0001 a0007c0016t0001	a0002c0002t0001g0217 a0002c0002t0001g0220 a0004c0004t0001g0269 others(1): Show a0002c0002t0001g0217 a0002c0002t0001g0220 a0004c0004t0001g0269 a0007c0016t0001g0250	4	300	0.0133	-24	c.654 others(43): Show c.654+22294_654+22317delGGTGGAGCAGGTGATCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758712	TCACCTGC others(17): Show TCACCTGCTCCACCCTCATTCCGAC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02896.hp1 NA19030.hp1 others(2): Show HG01993.hp1 HG02896.hp1 NA19030.hp1 NA19068.hp2 NA20129.hp1	a0002 a0008 a0026 a0002 a0008 a0026	a0002c0002 a0008c0006 a0026c0044 a0002c0002 a0008c0006 a0026c0044	a0002c0002t0001 a0002c0002t0002 a0008c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0008c0006t0001 a0026c0044t0001	a0002c0002t0001g0019 a0002c0002t0001g0186 a0002c0002t0002g0285 others(2): Show a0002c0002t0001g0019 a0002c0002t0001g0186 a0002c0002t0002g0285 a0008c0006t0001g0204 a0026c0044t0001g0205	5	300	0.0167	-24	c.654 others(43): Show c.654+22283_654+22306delGTCGGAATGAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758837	ACTCATTC others(17): Show ACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03491.hp2 HG02027.hp1 HG03491.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0012 a0002c0002 a0012c0012	a0002c0002t0001 a0012c0012t0001 a0002c0002t0001 a0012c0012t0001	a0002c0002t0001g0220 a0012c0012t0001g0018 a0002c0002t0001g0220 a0012c0012t0001g0018	2	300	0.0067	-24	c.654 others(43): Show c.654+22158_654+22181delGGTGGAGCAGGTGATCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160639554	CTATAGGC others(17): Show CTATAGGCAGCCACTAGAAACGGAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0016 a0002c0003t0010g0016	1	236	0.0042	-24	c.100 others(41): Show c.1000+883_1000+906delTTCCGTTTCTAGTGGCTGCCTATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	10/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160755838	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0189 a0003c0007t0013g0189	1	236	0.0042	-24	c.-33 others(45): Show c.-331+29697_-331+29720delATATATATATATATATATATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160766337	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp2 HG02559.hp1 HG02976.hp1 HG03225.hp1 HG03471.hp2	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0020	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0008c0017 a0011c0019 a0020c0030	a0001c0001t0001 a0001c0002t0007 a0001c0006t0031 others(4): Show a0001c0001t0001 a0001c0002t0007 a0001c0006t0031 a0008c0017t0026 a0008c0017t0040 a0011c0019t0048 a0020c0030t0030	a0001c0001t0001g0228 a0001c0002t0007g0224 a0001c0002t0007g0225 others(5): Show a0001c0001t0001g0228 a0001c0002t0007g0224 a0001c0002t0007g0225 a0001c0006t0031g0194 a0008c0017t0026g0005 a0008c0017t0040g0034 a0011c0019t0048g0113 a0020c0030t0030g0217	8	236	0.0339	-24	c.-33 others(45): Show c.-331+19198_-331+19221delGTGTGTGTGTGTGTGTGTGTGTGT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160783574	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18948.hp1 HG00621.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0029 a0002c0003t0005 a0001c0001t0029 a0002c0003t0005	a0001c0001t0029g0139 a0002c0003t0005g0063 a0001c0001t0029g0139 a0002c0003t0005g0063	2	236	0.0085	-24	c.-33 others(43): Show c.-331+1961_-331+1984delATGTGTGTGTGTGTGTGTGTGTGT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25						chr5	TogoVar
ATP10B_chr5_160558120_160857211	160822983	CATATACA others(17): Show CATATACATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp2 HG01109.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0165 a0001c0001t0008g0168 a0001c0001t0004g0165 a0001c0001t0008g0168	2	236	0.0085	-24	c.-57 others(45): Show c.-576+28934_-576+28957delATATATGTATATATATATGTATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25						chr5	TogoVar
ATP10D_chr4_47480275_47598486	47528493	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	332	0.0030	-24	c.776 others(41): Show c.776+2853_776+2876delGTGTGTGTGTGTGTGTGTGTATAT		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP10D_chr4_47480275_47598486	47528497	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02818.hp2 others(4): Show HG02486.hp1 HG02572.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp2 NA19043.hp1 NA20300.hp1	a0002 a0012 a0002 a0012	a0002c0008 a0012c0013 a0002c0008 a0012c0013	a0002c0008t0001 a0002c0008t0002 a0012c0013t0008 a0002c0008t0001 a0002c0008t0002 a0012c0013t0008	a0002c0008t0001g0022 a0002c0008t0001g0025 a0002c0008t0001g0135 others(4): Show a0002c0008t0001g0022 a0002c0008t0001g0025 a0002c0008t0001g0135 a0002c0008t0002g0319 a0012c0013t0008g0023 a0012c0013t0008g0035 a0012c0013t0008g0137	7	332	0.0211	-24	c.776 others(41): Show c.776+2857_776+2880delGTGTGTGTGTGTGTGTATATATAT		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP12A_chr13_24675408_24717472	24708900	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0171 a0001c0003t0006g0171	1	382	0.0026	-24	c.249 others(41): Show c.2494-424_2494-401delAGAAAGAAAGAAAGAAAGAAAGAA		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A1_chr19_19640198_19668676	19666607	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03710.hp1 HG03710.hp2 others(1): Show HG03209.hp1 HG03710.hp1 HG03710.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0003t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0003t0001g0016	4	380	0.0105	-24	c.-29 others(35): Show c.-2965_-2942delAAAAAAAAAAAAAAAAAAAAAAAA		ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding					2932		chr19	TogoVar
ATP13A3_chr3_194397677_194492002	194491533	ACTCTCAC others(17): Show ACTCTCACCTGGCATGCCCCCTCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02280.hp2 others(5): Show HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02723.hp1 HG02809.hp1 HG03098.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 others(5): Show a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189	8	304	0.0263	-24	c.-50 others(35): Show c.-5080_-5057delATGAGGGGGCATGCCAGGTGAGAG		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding					4532		chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193485271	AAGCAGCA others(17): Show AAGCAGCAGTTACACGTACAGGTAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	302	0.0033	-24	c.739 others(41): Show c.739-1290_739-1267delCTACCTGTACGTGTAACTGCTGCT		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	7/29						chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193541354	TTATCTAT others(17): Show TTATCTATCTGTGATTATCGATCAC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	302	0.0033	-24	c.60+ others(41): Show c.60+13362_60+13385delGTGATCGATAATCACAGATAGATA		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29						chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362750	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02976.hp2 others(10): Show HG01891.hp2 HG02451.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0006 a0001c0007 a0003c0002 others(1): Show a0001c0006 a0001c0007 a0003c0002 a0017c0023	a0001c0006t0001 a0001c0007t0001 a0003c0002t0001 others(1): Show a0001c0006t0001 a0001c0007t0001 a0003c0002t0001 a0017c0023t0001	a0001c0006t0001g0012 a0001c0007t0001g0003 a0001c0007t0001g0175 others(7): Show a0001c0006t0001g0012 a0001c0007t0001g0003 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0178 a0001c0007t0001g0179 a0001c0007t0001g0180 a0003c0002t0001g0173 a0017c0023t0001g0174	13	284	0.0458	-24	c.385 others(39): Show c.385-137_385-114delAGAAAGAAAGAAAGAAAGAAAGAA		ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29						chr3	TogoVar
ATP1A3_chr19_41961582_41999230	41972804	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	282	0.0036	-24	c.226 others(43): Show c.2264-2286_2264-2263delTTCCTTCCTTCCTTCCTTCCTTCC		ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	16/22						chr19	TogoVar
ATP1B2_chr17_7645926_7662770	7660070	CTGGGATT others(17): Show CTGGGATTATAGGCCTGAGCCACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	440	0.0023	-24	c.41 others(35): Show c.4176_*4199delTGGGATTATAGGCCTGAGCCACTG		ATP1B2	ENSG00000129244.9	transcript	ENST00000250111.9	protein_coding					2301		chr17	TogoVar
ATP2A3_chr17_3918873_3969437	3966363	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG04115.hp2 HG04204.hp2 others(2): Show HG03927.hp2 HG04115.hp2 HG04204.hp2 NA19003.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0037 a0001c0001 a0001c0002 a0001c0037	a0001c0001t0001 a0001c0002t0002 a0001c0037t0001 a0001c0001t0001 a0001c0002t0002 a0001c0037t0001	a0001c0001t0001g0139 a0001c0001t0001g0278 a0001c0001t0001g0280 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0002t0002g0279 a0001c0037t0001g0276	5	332	0.0151	-24	c.-20 others(35): Show c.-2096_-2073delAAAAAAAAAAAAAAAAAAAAAAAA		ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding					1927		chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89677965	TATATATA others(17): Show TATATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01433.hp1 others(1): Show HG01081.hp2 HG01192.hp2 HG01433.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0329	4	332	0.0121	-24	c.-22 others(45): Show c.-221-21882_-221-21859delGTGTGTGTGTGTGTGTGTATATAT		ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20						chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10321693	AATCTATC others(17): Show AATCTATCTATCTATCTATCTATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0286 a0001c0001t0010g0286	1	290	0.0035	-24	c.70 others(35): Show c.7097_*7120delAGATAGATAGATAGATAGATAGAT		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding					2329		chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10356074	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02258.hp2 HG02723.hp1 others(4): Show HG01069.hp2 HG02258.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0003 a0001c0002t0006 a0001c0002t0030 others(3): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0030 a0001c0002t0053 a0001c0004t0040 a0001c0006t0011	a0001c0002t0003g0162 a0001c0002t0006g0137 a0001c0002t0006g0212 others(4): Show a0001c0002t0003g0162 a0001c0002t0006g0137 a0001c0002t0006g0212 a0001c0002t0030g0214 a0001c0002t0053g0209 a0001c0004t0040g0282 a0001c0006t0011g0269	7	290	0.0241	-24	c.213 others(43): Show c.2136+2593_2136+2616delTTTTTTTTTTTTTTTTTTTTTTTT		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22						chr3	TogoVar
ATP2B4_chr1_203621832_203749081	203624249	GGAAGGAA others(17): Show GGAAGGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02155.hp1 NA18947.hp1 others(4): Show HG00673.hp2 HG02155.hp1 NA18947.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0037	a0001c0001t0001g0138 a0001c0001t0005g0139 a0001c0001t0006g0106 others(4): Show a0001c0001t0001g0138 a0001c0001t0005g0139 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0111 a0001c0001t0006g0152 a0001c0001t0037g0105	7	318	0.0220	-24	c.-34 others(35): Show c.-3434_-3411delGAAGGAAAGAAAGAAAGAAAGAAA		ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding					2582		chr1	TogoVar
ATP5F1A_chr18_46075248_46103296	46086314	TAGTTAAT others(17): Show TAGTTAATATATTAATACCTTAAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(35): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01255.hp2 HG01433.hp2 HG01516.hp1 HG01975.hp1 HG02040.hp2 HG02145.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18964.hp2 NA18992.hp1 NA18997.hp2 NA19058.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0034 a0001c0001t0036 others(14): Show a0001c0001t0003 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0105 a0001c0001t0107 a0001c0001t0110 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0120 a0001c0007t0003	a0001c0001t0003g0003 a0001c0001t0003g0232 a0001c0001t0003g0235 others(25): Show a0001c0001t0003g0003 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0034g0240 a0001c0001t0034g0258 a0001c0001t0036g0043 a0001c0001t0037g0044 a0001c0001t0040g0272 a0001c0001t0040g0273 a0001c0001t0099g0236 a0001c0001t0100g0248 a0001c0001t0101g0239 a0001c0001t0105g0244 a0001c0001t0107g0241 a0001c0001t0110g0259 a0001c0001t0113g0255 a0001c0001t0114g0242 a0001c0001t0115g0243 a0001c0001t0116g0233 a0001c0001t0120g0247 a0001c0007t0003g0231	38	390	0.0974	-24	c.128 others(39): Show c.1284+49_1285-58delTCTTAAGGTATTAATATATTAACT		ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	9/11						chr18	TogoVar
ATP5F1C_chr10_7783177_7812801	7788136	GGCGCGCT others(17): Show GGCGCGCTGGGGAGCTTCGGCGCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	420	0.0024	-24	c.-71 others(31): Show c.-71_-48delGCGCGCTGGGGAGCTTCGGCGCAT		ATP5F1C	ENSG00000165629.20	transcript	ENST00000356708.12	protein_coding					40		chr10	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	418	0.0024	-24	c.311 others(41): Show c.311+1168_311+1191delATATATATATATATATATATATAT		ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4						chr12	TogoVar

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