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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANKRD11_chr16_89262630_89495561	89389703	AGGGAGCA others(40): Show AGGGAGCACCGAGAGAGAAGATCACTGGGGCAAACACCGAGTGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	310	0.0032	-47	c.-60 others(66): Show c.-60+28534_-60+28580delCGCCACACTCGGTGTTTGCCCCAGTG ATCTTCTCTCTCGGTGCTCCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD24_chr19_4177689_4229814	4213244	TCCTTCCT others(40): Show TCCTTCCTTTCCTTCTTTCCTTTCCTTCCTTCCTTCCCTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	356	0.0028	-47	c.119 others(64): Show c.1197+548_1197+594delCTTCCTTTCCTTCTTTCCTTTCCTTCCT TCCTTCCCTCCTTCCTTCC	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD31_chr5_75063297_75241878	75206227	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	334	0.0030	-47	c.403 others(62): Show c.403+137_403+183delATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206231	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00735.hp2 others(18): Show HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01928.hp2 HG02055.hp1 HG02083.hp1 HG02300.hp1 HG03098.hp2 HG03453.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18957.hp1 NA18959.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2	a0002 a0007 a0008 others(1): Show a0002 a0007 a0008 a0017	a0002c0002 a0002c0022 a0007c0007 others(2): Show a0002c0002 a0002c0022 a0007c0007 a0008c0008 a0017c0018	a0002c0002t0001 a0002c0002t0003 a0002c0022t0001 others(3): Show a0002c0002t0001 a0002c0002t0003 a0002c0022t0001 a0007c0007t0001 a0008c0008t0001 a0017c0018t0001	a0002c0002t0001g0001 a0002c0002t0001g0070 a0002c0002t0001g0074 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0070 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0003g0009 a0002c0022t0001g0078 a0007c0007t0001g0148 a0008c0008t0001g0179 a0008c0008t0001g0181 a0017c0018t0001g0326 a0017c0018t0001g0327	21	334	0.0629	-47	c.403 others(62): Show c.403+133_403+179delATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206233	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01071.hp2 others(16): Show HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp1 HG02027.hp2 HG02132.hp2 HG02135.hp2 HG02602.hp2 HG02735.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18960.hp2 NA19055.hp2	a0002 a0008 a0011 a0002 a0008 a0011	a0002c0002 a0008c0008 a0011c0011 a0002c0002 a0008c0008 a0011c0011	a0002c0002t0001 a0002c0002t0008 a0008c0008t0001 others(1): Show a0002c0002t0001 a0002c0002t0008 a0008c0008t0001 a0011c0011t0001	a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 others(16): Show a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0082 a0002c0002t0001g0092 a0002c0002t0008g0083 a0008c0008t0001g0177 a0008c0008t0001g0178 a0011c0011t0001g0031 a0011c0011t0001g0032 a0011c0011t0001g0038	19	334	0.0569	-47	c.403 others(62): Show c.403+131_403+177delATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206235	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG02486.hp1 others(2): Show HG01123.hp2 HG01358.hp1 HG02486.hp1 NA18989.hp2 NA19085.hp2	a0002 a0019 a0028 a0002 a0019 a0028	a0002c0002 a0019c0023 a0028c0020 a0002c0002 a0019c0023 a0028c0020	a0002c0002t0001 a0019c0023t0009 a0028c0020t0001 a0002c0002t0001 a0019c0023t0009 a0028c0020t0001	a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0080 others(2): Show a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0080 a0019c0023t0009g0285 a0028c0020t0001g0090	5	334	0.0150	-47	c.403 others(62): Show c.403+129_403+175delATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD45_chr1_173603336_173674851	173613580	CGCCCCGT others(40): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCACGCCCGGCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18939.hp1 NA18943.hp1 others(4): Show HG03669.hp2 NA18939.hp1 NA18943.hp1 NA18961.hp2 NA18964.hp2 NA19070.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0158 a0001c0001t0005g0001 a0001c0001t0005g0141 others(1): Show a0001c0001t0001g0158 a0001c0001t0005g0001 a0001c0001t0005g0141 a0001c0001t0005g0182	7	342	0.0205	-47	c.731 others(64): Show c.731-3412_731-3366delAGCTGGCCGGGCGTGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGC	ANKRD45	ENSG00000183831.7	transcript	ENST00000333279.3	protein_coding	5/5			chr1	TogoVar
ANXA10_chr4_168087537_168192736	168155863	ATATATCA others(40): Show ATATATCATATATTATATGTTATATATAATATATGATATATCATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	284	0.0035	-47	c.196 others(64): Show c.196-6659_196-6613delCATATATTATATGTTATATATAATATAT GATATATCATATATTATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA3_chr4_78546770_78615447	78548182	GCAGCCAC others(40): Show GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCACCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	330	0.0030	-47	c.-37 others(58): Show c.-3715_-3669delCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCA GCCCCCACCAGGC	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding		3587		chr4	TogoVar
AP3S2_chr15_89825599_89898994	89856762	ACTCAGGA others(40): Show ACTCAGGAGGCTGAGGCATGAGAATTGCTTAAACCCGGGAGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	312	0.0032	-47	c.345 others(66): Show c.345+14666_345+14712delCCTCTGCCTCCCGGGTTTAAGCAATT CTCATGCCTCAGCCTCCTGAG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APBB2_chr4_40805027_41219542	40982194	GGAAAGAA others(40): Show GGAAAGAAAGAAAAGAAAGAAAAGAAAGGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp1 HG03579.hp1 others(1): Show HG00558.hp2 HG02258.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0002c0001t0025 a0001c0003t0001 a0002c0001t0001 a0002c0001t0025	a0001c0003t0001g0185 a0002c0001t0001g0078 a0002c0001t0001g0125 others(1): Show a0001c0003t0001g0185 a0002c0001t0001g0078 a0002c0001t0001g0125 a0002c0001t0025g0020	4	192	0.0208	-47	c.835 others(66): Show c.835+31342_835+31388delTTTCTTTCTTTCTTTCTTTCCTTTCT TTTCTTTCTTTTCTTTCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
ARFGEF3_chr6_138156939_138349663	138345433	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAATTATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0045	1	190	0.0053	-47	c.89 others(58): Show c.8948_*8994delAAAAAAAAAAAAAAAAATTATATATATATATATA TATATATATATAT	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding		771		chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138345435	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAATTATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18957.hp1 NA18968.hp2 others(4): Show HG01109.hp1 NA18957.hp1 NA18968.hp2 NA19002.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0041 a0002c0003 a0002c0041	a0002c0003t0002 a0002c0003t0053 a0002c0041t0002 a0002c0003t0002 a0002c0003t0053 a0002c0041t0002	a0002c0003t0002g0042 a0002c0003t0002g0046 a0002c0003t0002g0052 others(4): Show a0002c0003t0002g0042 a0002c0003t0002g0046 a0002c0003t0002g0052 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0053g0041 a0002c0041t0002g0075	7	190	0.0368	-47	c.89 others(58): Show c.8950_*8996delAAAAAAAAAAAAAAATTATATATATATATATATA TATATATATATAT	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding		773		chr6	TogoVar
ARFGEF3_chr6_138156939_138349663	138345437	AAAAAAAA others(40): Show AAAAAAAAAAAAAATTATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02257.hp1 HG02976.hp1 others(7): Show HG02027.hp1 HG02257.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp2 HG03579.hp2 NA18747.hp1 NA18944.hp1 NA18952.hp2 NA19083.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0005 a0002c0003 a0003c0018 others(1): Show a0001c0005 a0002c0003 a0003c0018 a0006c0020	a0001c0005t0002 a0001c0005t0007 a0002c0003t0002 others(3): Show a0001c0005t0002 a0001c0005t0007 a0002c0003t0002 a0002c0003t0007 a0003c0018t0007 a0006c0020t0007	a0001c0005t0002g0117 a0001c0005t0007g0092 a0002c0003t0002g0030 others(7): Show a0001c0005t0002g0117 a0001c0005t0007g0092 a0002c0003t0002g0030 a0002c0003t0002g0034 a0002c0003t0002g0054 a0002c0003t0002g0060 a0002c0003t0007g0078 a0002c0003t0007g0079 a0003c0018t0007g0100 a0006c0020t0007g0084	10	190	0.0526	-47	c.89 others(58): Show c.8952_*8998delAAAAAAAAAAAAATTATATATATATATATATATA TATATATATATAT	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding		775		chr6	TogoVar
ARHGEF28_chr5_73621196_73946990	73671710	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20300.hp1 HG00735.hp1 NA20300.hp1	a0006 a0037 a0006 a0037	a0006c0030 a0037c0052 a0006c0030 a0037c0052	a0006c0030t0001 a0037c0052t0001 a0006c0030t0001 a0037c0052t0001	a0006c0030t0001g0024 a0037c0052t0001g0025 a0006c0030t0001g0024 a0037c0052t0001g0025	2	188	0.0106	-47	c.-11 others(66): Show c.-11-13129_-11-13083delATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF4_chr2_130831914_131052253	130833375	GAAGGAAA others(40): Show GAAGGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02717.hp2 HG02818.hp1	a0001 a0006 a0001 a0006	a0001c0014 a0006c0005 a0001c0014 a0006c0005	a0001c0014t0001 a0006c0005t0005 a0001c0014t0001 a0006c0005t0005	a0001c0014t0001g0120 a0006c0005t0005g0119 a0001c0014t0001g0120 a0006c0005t0005g0119	2	144	0.0139	-47	c.-35 others(58): Show c.-3578_-3532delAAGGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGA	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding		3538		chr2	TogoVar
ARHGEF7_chr13_111110310_111310732	111169988	CAGGCCCC others(40): Show CAGGCCCCTCTGCAGAGGTGACGCTTTTAGAGATTGGGTGATCAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 HG02895.hp1 others(1): Show HG01109.hp1 HG02886.hp1 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0144 a0001c0001t0002g0011 a0001c0001t0008g0017 others(1): Show a0001c0001t0001g0144 a0001c0001t0002g0011 a0001c0001t0008g0017 a0001c0001t0016g0012	4	274	0.0146	-47	c.252 others(66): Show c.252+16027_252+16073delAGATTGGGTGATCAGAGAAGGCCCCT CTGCAGAGGTGACGCTTTTAG	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARSJ_chr4_113895284_113984647	113947574	AGAAGGGA others(40): Show AGAAGGGAAAGGAAGGAAGGAGAGAGGGAGAGAGAGGGAGGGAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02572.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0129 a0001c0001t0002g0132	2	350	0.0057	-47	c.398 others(66): Show c.398+30816_398+30862delCTTCCTCCCTCCCTCTCTCTCCCTCT CTCCTTCCTTCCTTTCCCTTC	ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1			chr4	TogoVar
ASAP1_chr8_130047104_130448674	130056450	TAGTGGCA others(40): Show TAGTGGCATCCCTGGCCACTAAACTTCCATCTACTAGTTGTTGGTAGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	308	0.0033	-47	c.331 others(66): Show c.3315+1457_3315+1503delGCTACCAACAACTAGTAGATGGAAGT TTAGTGGCCAGGGATGCCACT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	29/29			chr8	TogoVar
ASB16_chr17_44165704_44184084	44181152	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03209.hp2 HG03098.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0105 a0002c0002t0005g0106 a0002c0002t0005g0105 a0002c0002t0005g0106	2	362	0.0055	-47	c.27 others(58): Show c.2763_*2809delGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGGAGGT	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		2069		chr17	TogoVar
ASMTL_chrX_1398139_1457909	1424981	TCCATCTA others(40): Show TCCATCTATCCACCTACCATCCATCCATCCATCCATCCATCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0020 a0021 a0022	a0001c0001 a0001c0008 a0001c0013 others(25): Show a0001c0001 a0001c0008 a0001c0013 a0001c0035 a0002c0004 a0002c0012 a0002c0014 a0002c0015 a0002c0034 a0003c0002 a0003c0005 a0003c0029 a0003c0044 a0005c0027 a0005c0037 a0006c0016 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0014c0025 a0015c0026 a0017c0022 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 others(27): Show a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0035t0001 a0002c0004t0001 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0005t0001 a0003c0029t0001 a0003c0044t0001 a0005c0027t0001 a0005c0037t0001 a0006c0016t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0014c0025t0001 a0015c0026t0001 a0017c0022t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0013t0001g0068 a0001c0013t0001g0164 a0001c0035t0001g0122 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0014t0001g0177 a0002c0015t0001g0001 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0150 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0002g0183 a0003c0002t0003g0100 a0003c0005t0001g0010 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0003c0044t0001g0011 a0005c0027t0001g0175 a0005c0037t0001g0162 a0006c0016t0001g0166 a0006c0016t0001g0169 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0014c0025t0001g0152 a0015c0026t0001g0114 a0017c0022t0001g0017 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	127	185	0.6865	-47	c.106 others(64): Show c.1060+497_1060+543delGAGGAAGGATGGATGGATGGATGGATGG ATGGTAGGTGGATAGATGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	8/12			chrX	TogoVar
ATF2_chr2_175067259_175173203	175108448	GTCCGGGA others(40): Show GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp2 HG03195.hp1 others(3): Show HG02896.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0209	6	224	0.0268	-47	c.828 others(64): Show c.828+3073_828+3119delAGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCACCTCCCTCCCGGA	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25804425	GTGTATGT others(40): Show GTGTATGTGTGGTGTGTGTGTCTGTGTGCATGGTGTGTGTGTGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG01891.hp1 others(20): Show HG00735.hp2 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0014 a0034 a0039 a0043 a0044 a0045 a0046 a0048 a0050	a0001c0001 a0001c0014 a0002c0002 others(17): Show a0001c0001 a0001c0014 a0002c0002 a0003c0064 a0006c0007 a0007c0015 a0007c0016 a0007c0083 a0008c0006 a0009c0045 a0011c0008 a0014c0023 a0034c0059 a0039c0049 a0043c0042 a0044c0043 a0045c0034 a0046c0035 a0048c0039 a0050c0041	a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 others(17): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 a0003c0064t0001 a0006c0007t0001 a0007c0015t0001 a0007c0016t0001 a0007c0083t0001 a0008c0006t0001 a0009c0045t0001 a0011c0008t0001 a0014c0023t0001 a0034c0059t0001 a0039c0049t0001 a0043c0042t0001 a0044c0043t0001 a0045c0034t0001 a0046c0035t0005 a0048c0039t0001 a0050c0041t0001	a0001c0001t0001g0039 a0001c0001t0001g0192 a0001c0014t0001g0069 others(20): Show a0001c0001t0001g0039 a0001c0001t0001g0192 a0001c0014t0001g0069 a0002c0002t0001g0122 a0002c0002t0001g0248 a0003c0064t0001g0241 a0006c0007t0001g0249 a0007c0015t0001g0026 a0007c0016t0001g0250 a0007c0083t0001g0279 a0008c0006t0001g0174 a0008c0006t0001g0242 a0009c0045t0001g0049 a0011c0008t0001g0193 a0014c0023t0001g0043 a0034c0059t0001g0275 a0039c0049t0001g0175 a0043c0042t0001g0042 a0044c0043t0001g0041 a0045c0034t0001g0044 a0046c0035t0005g0216 a0048c0039t0001g0176 a0050c0041t0001g0171	23	300	0.0767	-47	c.450 others(66): Show c.450-23249_450-23203delTACACCACACACACACCATGCACACA GACACACACACCACACATACA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112787074	CGTAGACC others(40): Show CGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGTGTCCTGACGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0049 a0001c0009t0004 a0001c0009t0049	a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0009t0004g0140 a0001c0009t0049g0141	2	254	0.0079	-47	c.162 others(64): Show c.162+1854_162+1900delTGTCCTGACGTGTAGACCCCTGTGGAGA CCTACTTAATTCACACCGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787357	GATGCGTA others(40): Show GATGCGTAGACTCCTGTGGAGACCTACTTAATCCACACCAGTGTCCTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0240 a0001c0001t0021g0240	1	254	0.0039	-47	c.162 others(64): Show c.162+2104_162+2150delCGTAGACTCCTGTGGAGACCTACTTAAT CCACACCAGTGTCCTAATG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112789356	GTGTAGAC others(40): Show GTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGTGTTCTGACA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	254	0.0039	-47	c.162 others(64): Show c.162+4138_162+4184delGTTCTGACATGTAGACCCCTGTGGAGAC CTACTTAATTCACACCGGT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP5F1C_chr10_7783177_7812801	7812105	ATCCCAGC others(40): Show ATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACACGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	420	0.0024	-47	c.44 others(58): Show c.4478_*4524delTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATC GCTTGAACACGGG	ATP5F1C	ENSG00000165629.20	transcript	ENST00000356708.12	protein_coding		4305		chr10	TogoVar
ATP5MGL_chr22_42634803_42645601	42640334	GACCCTGC others(40): Show GACCCTGCGTGGTTCACTTATTTATTTATTTATTTATTTATTTATTTA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	374	0.0027	-47	c.-10 others(55): Show c.-107_-61delTAAATAAATAAATAAATAAATAAATAAATAAGTGAAC CACGCAGGGT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding	1/1	61		chr22	TogoVar
ATP6V0D2_chr8_86093910_86159225	86098211	TATCATTA others(40): Show TATCATTATTATTTTGAGACAGAGTCTCACTCTGTCCTCCAGGCTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	360	0.0028	-47	c.-76 others(56): Show c.-767_-721delATCATTATTATTTTGAGACAGAGTCTCACTCTGTCC TCCAGGCTGGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding		698		chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755710	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	286	0.0035	-47	c.127 others(64): Show c.1277+798_1277+844delAAAAAAAAAAAAATATATATATATATAT ATATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8A2_chr13_25366974_26030851	25531280	GTTATATA others(40): Show GTTATATATGATATATATGTTATATATGATATATATGTTATATATGAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(11): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01243.hp1 HG01496.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0010 others(1): Show a0001c0004 a0001c0006 a0001c0010 a0001c0017	a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 others(10): Show a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0006t0006 a0001c0006t0020 a0001c0006t0043 a0001c0010t0012 a0001c0010t0056 a0001c0017t0036	a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 others(11): Show a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0005g0089 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0017t0036g0019	14	122	0.1148	-47	c.420 others(62): Show c.420+621_420+667delTTATATATGATATATATGTTATATATGATA TATATGTTATATATGAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79246221	AGGAGGGC others(40): Show AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01109.hp1 others(6): Show HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01884.hp1 HG01934.hp2 HG03654.hp1 HG03669.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0037t0003 a0001c0001t0001 a0001c0037t0003	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0059 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0037t0003g0104	9	298	0.0302	-47	c.110 others(66): Show c.1108-7149_1108-7103delACCCTGACTGTGTGGAGGGCACCACC CTACTGACTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AVPI1_chr10_97672424_97692241	97678953	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	446	0.0022	-47	c.287 others(62): Show c.287+619_287+665delACACACACACACACACACACACACACACAC ACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83022848	GCCCACCT others(40): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp2 NA20129.hp1 HG01243.hp2 HG01361.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0160 a0001c0001t0002g0178 a0001c0001t0017g0177 a0001c0001t0002g0160 a0001c0001t0002g0178 a0001c0001t0017g0177	3	266	0.0113	-47	c.298 others(64): Show c.298-8376_298-8330delGCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BABAM2_chr2_27885729_28343901	28315072	GAGGGAAG others(40): Show GAGGGAAGGAAGGAAGGAGAGGAGAGGGGAGAGGAGGGGAAAAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0148 a0001c0001t0002g0001 a0001c0001t0003g0148	2	158	0.0127	-47	c.108 others(68): Show c.1088+16590_1088+16636delAAGGAAGGAGAGGAGAGGGGAGAG GAGGGGAAAAGGGGAAGGGAAGG	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAIAP2_chr17_81030151_81122434	81053959	GGGGTGGG others(40): Show GGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0368 a0001c0001t0003g0368	1	376	0.0027	-47	c.130 others(62): Show c.130+255_130+301delTGGCCCCAAGGGTGGGAGCTGCCTCCTGAG CTGGTAGAACTGTGCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	87967956	GTTGGTCA others(40): Show GTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01934.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG01934.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 others(1): Show a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247	4	352	0.0114	-47	c.-68 others(64): Show c.-68-7087_-68-7041delTCAGGCTGGTCTCGAACTCCCGACCTCA GGTGATCCACCCGCCTTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87996460	AGCTGGGC others(40): Show AGCTGGGCTCTGGTTCTGAGTGTTGCTGGGCCCTCGTCCTGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(179): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(14): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0020 a0001c0023 a0001c0026 a0001c0027 a0001c0032 a0001c0033 a0002c0018 a0002c0019 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0004t0004 a0001c0004t0012 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0008t0001 a0001c0009t0001 a0001c0009t0005 a0001c0010t0007 a0001c0012t0001 a0001c0014t0001 a0001c0014t0019 a0001c0020t0007 a0001c0023t0005 a0001c0026t0004 a0001c0027t0007 a0001c0032t0005 a0001c0033t0001 a0002c0018t0016 a0002c0019t0017 a0002c0019t0018 a0002c0029t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(179): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0007t0005g0088 a0001c0007t0005g0089 a0001c0007t0005g0119 a0001c0007t0005g0282 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273 a0001c0008t0001g0275 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0014t0019g0199 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0023t0005g0289 a0001c0026t0004g0133 a0001c0027t0007g0090 a0001c0032t0005g0107 a0001c0033t0001g0178 a0002c0018t0016g0134 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0029t0001g0173	182	352	0.5171	-47	c.363 others(64): Show c.363-7806_363-7760delGCCCTCGTCCTGGGCGCCGGCTGGGCTC TGGTTCTGAGTGTTGCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87996494	CGTCCTGG others(40): Show CGTCCTGGGCGCCGGCTGGGCTCTGGTTCTGAGTGTTGCTGGTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG03225.hp2 others(2): Show HG01109.hp1 HG02572.hp2 HG03225.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0030 a0001c0007 a0001c0008 a0001c0030	a0001c0007t0005 a0001c0008t0001 a0001c0030t0001 a0001c0007t0005 a0001c0008t0001 a0001c0030t0001	a0001c0007t0005g0108 a0001c0007t0005g0112 a0001c0007t0005g0113 others(2): Show a0001c0007t0005g0108 a0001c0007t0005g0112 a0001c0007t0005g0113 a0001c0008t0001g0165 a0001c0030t0001g0084	5	352	0.0142	-47	c.363 others(64): Show c.363-7759_363-7713delTCCCTGGTCCTGGGCGCCGGCTGGGCTC TGGTTCTGAGTGTTGCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BATF2_chr11_64982945_65001971	64983525	TATTTTAT others(40): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	404	0.0025	-47	c.55 others(58): Show c.5557_*5603delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAAATAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4419		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159325070	ATATATAT others(40): Show ATATATATTATATATATATATATTATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	216	0.0046	-47	c.621 others(64): Show c.6210-163_6210-117delAAATATATATATATATATATATATAATA TATATATATATAATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBS9_chr7_33124564_33611069	33279145	GAGCCTCC others(40): Show GAGCCTCCTGAGTAGCTACAACTATAGGCATATGCCTCCTCCTGTCTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0017 a0002c0002t0011g0017	1	268	0.0037	-47	c.101 others(66): Show c.1016+5225_1016+5271delTCCTCCTGTCTCAGCCTCCTGAGTAG CTACAACTATAGGCATATGCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCL9_chr1_147536501_147631216	147541072	AGAGAGAG others(40): Show AGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01168.hp1 others(25): Show HG00323.hp2 HG00621.hp1 HG01168.hp1 HG01169.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp1 HG03209.hp2 HG03225.hp1 HG03710.hp2 HG03831.hp1 NA18942.hp2 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA19002.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0007t0009 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0118 a0001c0001t0002g0034 a0001c0001t0002g0176 a0001c0001t0004g0001 a0001c0001t0004g0081 a0001c0001t0004g0137 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0005g0005 a0001c0001t0005g0090 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0006g0271 a0001c0001t0007g0149 a0001c0001t0009g0270 a0001c0001t0011g0051 a0001c0001t0023g0208 a0001c0007t0009g0273 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0005g0096	28	316	0.0886	-47	c.-10 others(58): Show c.-1079_-1033delGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGA GAGAGAGAGAGAG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		428		chr1	TogoVar
BLM_chr15_90712346_90821166	90819305	ATCCACGG others(40): Show ATCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	280	0.0036	-47	c.40 others(58): Show c.4027_*4073delTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGG GAAGGTGCCGGGT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3140		chr15	TogoVar
BMAL1_chr11_13272790_13392266	13284224	ATATGTGT others(40): Show ATATGTGTGTGTATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	314	0.0032	-47	c.-26 others(66): Show c.-263+6303_-263+6349delATGTGTGTGTATATATATATATATAT ATATATATATATATATTTTTT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(40): Show GATATTATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0147 a0017c0024t0001g0147	1	424	0.0024	-47	c.116 others(64): Show c.1169-428_1169-382delATATATATATATATATATATATATATAT ATATATATATATATAATAT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BORCS8_chr19_19171906_19197152	19177677	GAAGGAAG others(40): Show GAAGGAAGGAAGGAAGGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	428	0.0047	-47	c.43 others(62): Show c.43-264_*43-218delTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TCCTTCCTTCCTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFA2_chr20_33163159_33186412	33185331	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGAGGGGGGCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(33): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0006 others(1): Show a0001c0001 a0002c0003 a0003c0006 a0005c0008	a0001c0001t0001 a0002c0003t0001 a0003c0006t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0006t0001 a0003c0006t0002 a0005c0008t0001	a0001c0001t0001g0037 a0002c0003t0001g0005 a0002c0003t0001g0006 others(12): Show a0001c0001t0001g0037 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0015 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0003c0006t0001g0025 a0003c0006t0002g0014 a0005c0008t0001g0012	36	378	0.0952	-47	c.41 others(58): Show c.4146_*4192delCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGAGGGGGGCTAA	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3920		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33185356	CGGCTGGC others(40): Show CGGCTGGCCGGGAGGGGGGCTAACCCCCACCTCCCTCCCGGACGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	378	0.0027	-47	c.41 others(58): Show c.4171_*4217delGGCTGGCCGGGAGGGGGGCTAACCCCCACCTCCC TCCCGGACGGGGT	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3945		chr20	TogoVar
BRD1_chr22_49768283_49832873	49802492	ATTCCCCA others(40): Show ATTCCCCAACATCGCAGGGGCCGAGACCAATGCCTCCACTCTCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 NA18995.hp1 HG00140.hp2 HG01515.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0064 a0001c0001t0002g0079 a0001c0001t0005g0151 a0001c0001t0002g0064 a0001c0001t0002g0079 a0001c0001t0005g0151	3	258	0.0116	-47	c.152 others(66): Show c.1524+1665_1524+1711delAGGAAGAGAGTGGAGGCATTGGTCTC GGCCCCTGCGATGTTGGGGAA	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar

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Search Results (Total: 916 hits)