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
ABLIM1_chr10_114426112_114663275	114641878	G G	GTTGTTTT others(18): Show GTTGTTTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02717.hp2 others(5): Show HG01109.hp1 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0009 a0010c0014	a0001c0001t0027 a0001c0002t0020 a0001c0002t0033 others(5): Show a0001c0001t0027 a0001c0002t0020 a0001c0002t0033 a0001c0002t0037 a0001c0002t0099 a0002c0005t0092 a0002c0009t0090 a0010c0014t0084	a0001c0001t0027g0158 a0001c0002t0020g0154 a0001c0002t0033g0012 others(5): Show a0001c0001t0027g0158 a0001c0002t0020g0154 a0001c0002t0033g0012 a0001c0002t0037g0009 a0001c0002t0099g0155 a0002c0005t0092g0156 a0002c0009t0090g0010 a0010c0014t0084g0148	8	256	0.0313	25	c.244 others(44): Show c.244+16078_244+16079insAACAAAACAAAACAAAACAAAACAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8139235	A A	AGGGAGGG others(18): Show AGGGAGGGGAGGGGAGGGGAGGGGAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp2 HG03453.hp2 HG01243.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018	a0001c0001t0007g0112 a0001c0001t0016g0111 a0001c0001t0018g0001 a0001c0001t0007g0112 a0001c0001t0016g0111 a0001c0001t0018g0001	3	322	0.0093	25	c.10+ others(42): Show c.10+19444_10+19445insGTCCCCTCCCCTCCCCTCCCCTCCC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABRACL_chr6_139023745_139048302	139033299	G G	GTTTTATT others(18): Show GTTTTATTCTGAACTCCTCCTTATCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	448	0.0022	25	c.-6- others(38): Show c.-6-855_-6-831dupTTTTATTCTGAACTCCTCCTTATCT	ABRACL	ENSG00000146386.8	transcript	ENST00000367660.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
ABR_chr17_998519_1184981	1054557	G G	GCACAAGG others(18): Show GCACAAGGAACCTGAGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 NA19043.hp1 others(1): Show HG02486.hp2 HG03130.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 a0001c0004t0024	a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 others(1): Show a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0004t0024g0041	4	337	0.0119	25	c.156 others(44): Show c.1561+1477_1561+1478insACCCCATCCCCTCAGGTTCCTTGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146607	C C	CACATGAC others(18): Show CACATGACACCACTGCCACCATTGCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show HG02015.hp2 HG02040.hp2 HG02523.hp1 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA18980.hp1 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0078	a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 others(7): Show a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 a0001c0001t0007g0288 a0001c0001t0009g0046 a0001c0001t0013g0043 a0001c0001t0026g0027 a0001c0001t0030g0107 a0001c0001t0033g0327 a0001c0001t0078g0289	10	337	0.0297	25	c.62- others(42): Show c.62-21241_62-21240insAGCAATGGTGGCAGTGGTGTCATGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173193	T T	TCCACCCC others(18): Show TCCACCCCCCGCCCCATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02922.hp2 others(2): Show HG02145.hp2 HG02258.hp2 HG02922.hp2 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0009 a0001c0001t0040 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0040 a0001c0003t0023 a0001c0003t0025	a0001c0001t0008g0007 a0001c0001t0009g0004 a0001c0001t0040g0002 others(2): Show a0001c0001t0008g0007 a0001c0001t0009g0004 a0001c0001t0040g0002 a0001c0003t0023g0005 a0001c0003t0025g0006	5	337	0.0148	25	c.61+ others(40): Show c.61+6473_61+6474insGCTGAGGTGATGGGGCGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34325950	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02132.hp1 HG02451.hp2 others(3): Show HG02004.hp2 HG02132.hp1 HG02451.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0003c0003	a0001c0001t0003 a0001c0004t0009 a0001c0007t0001 others(2): Show a0001c0001t0003 a0001c0004t0009 a0001c0007t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0003g0166 a0001c0001t0003g0180 a0001c0004t0009g0139 others(3): Show a0001c0001t0003g0166 a0001c0001t0003g0180 a0001c0004t0009g0139 a0001c0007t0001g0154 a0003c0003t0001g0137 a0003c0003t0003g0179	6	246	0.0244	25	c.883 others(44): Show c.883+30726_883+30750dupATTTTATTTTATTTTATTTTATTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18989.hp1 HG00423.hp2 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0034 a0002c0002t0004 a0002c0002t0034	a0002c0002t0004g0059 a0002c0002t0034g0115 a0002c0002t0004g0059 a0002c0002t0034g0115	2	186	0.0108	25	c.113 others(46): Show c.1136-12043_1136-12019dupTTTTTTTTTTTTTTTTTTTTTTTT T	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0040 a0001c0004t0005g0040	1	299	0.0033	25	c.507 others(44): Show c.5079+5239_5079+5240insAAAAATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174021	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02155.hp1 HG02109.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0280 a0001c0002t0002g0016 a0001c0002t0001g0280 a0001c0002t0002g0016	2	299	0.0067	25	c.507 others(44): Show c.5079+5238_5079+5239insTATATATATATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0297 a0001c0004t0005g0297	1	364	0.0028	25	c.945 others(42): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045171	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0191 a0003c0004t0006g0191	1	374	0.0027	25	c.900 others(40): Show c.900+687_900+688insATATATATATATATATATTTTTTTT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACADS_chr12_120720826_120745008	120735898	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(44): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02523.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 NA18747.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0013 a0001c0003t0015 a0001c0003t0003 a0001c0003t0013 a0001c0003t0015	a0001c0003t0003g0002 a0001c0003t0003g0021 a0001c0003t0003g0024 others(27): Show a0001c0003t0003g0002 a0001c0003t0003g0021 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0038 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0082 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0146 a0001c0003t0003g0157 a0001c0003t0013g0002 a0001c0003t0015g0021	47	426	0.1103	25	c.211 others(42): Show c.211-1080_211-1056dupAATAAAATAAAATAAAATAAAATAA	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(18): Show GTCTCTGCTCCGTCCCGTGTCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03017.hp1 HG02723.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0193 a0001c0001t0001g0070 a0001c0001t0001g0193	2	295	0.0068	25	c.37 others(36): Show c.3716_*3717insGCAGAGACACGGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCC others(18): Show TCTCTGCCCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA18971.hp2 NA18995.hp1 HG00323.hp1 NA18971.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0129 a0001c0001t0004g0034 a0001c0001t0004g0223 a0001c0001t0002g0129 a0001c0001t0004g0034 a0001c0001t0004g0223	3	295	0.0102	25	c.37 others(36): Show c.3715_*3716insGGCAGAGACACGGGACGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCT others(18): Show TCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	25	c.37 others(36): Show c.3715_*3716insGGCAGAGACACGGGACGGAGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02004.hp1 others(13): Show HG00408.hp2 HG00438.hp2 HG02004.hp1 HG02056.hp2 HG03490.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18959.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18998.hp2 NA19072.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0070 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0155 a0002c0002t0002g0308 a0002c0002t0002g0316	16	386	0.0415	25	c.73- others(38): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	384	0.0026	25	c.375 others(42): Show c.375+2932_375+2933insAAATATATATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	384	0.0026	25	c.375 others(42): Show c.375+2932_375+2933insAAAAAAAAAAATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0212 a0001c0001t0020g0212	1	384	0.0026	25	c.375 others(42): Show c.375+2932_375+2933insAAAAAAAAAAAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228816	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	384	0.0026	25	c.375 others(42): Show c.375+2931_375+2932insTATATATATATATATATATATATAT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TATAGAAT others(18): Show TATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01081.hp2 others(22): Show HG00423.hp1 HG00609.hp2 HG01081.hp2 HG01099.hp1 HG01975.hp2 HG02074.hp1 HG02129.hp2 HG02738.hp1 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18970.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA19002.hp2 NA19004.hp1 NA19055.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0117 a0001c0001t0001g0118 others(21): Show a0001c0001t0001g0050 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0173 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0004t0001g0379 a0002c0002t0001g0003 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0053 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0128 a0002c0002t0001g0317 a0002c0002t0001g0352	25	396	0.0631	25	c.93+ others(40): Show c.93+4078_93+4102dupTCTATTCTATTCTATTCTATTCTAT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER2_chr9_19404009_19457505	19428008	T T	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	358	0.0028	25	c.365 others(42): Show c.365+3215_365+3239dupTCCTTTCCTTTCCTTTCCTTTCCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACHE_chr7_100884994_100900888	100887837	C C	CCAGCCAC others(18): Show CCAGCCACCTGGCCCCGCCCAGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	25	c.23 others(36): Show c.2352_*2376dupTACTCTGGGCGGGGCCAGGTGGCTG	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding		2156		chr7	TogoVar
ACHE_chr7_100884994_100900888	100899697	T T	TATTGAAG others(18): Show TATTGAAGAGTCTCTGAGAAGATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	414	0.0024	25	c.-39 others(36): Show c.-3917_-3916insGATATCTTCTCAGAGACTCTTCAAT	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding		3810		chr7	TogoVar
ACKR3_chr2_236564825_236587354	236575618	T T	TGTGTCTG others(18): Show TGTGTCTGGGGTTGTGCTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01069.hp1 others(62): Show HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01243.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005 a0007c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0003c0005t0001 a0007c0014t0001	a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0051 others(34): Show a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0140 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0069 a0001c0002t0001g0082 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0132 a0001c0002t0002g0063 a0001c0002t0002g0070 a0001c0002t0002g0129 a0001c0002t0006g0102 a0001c0003t0001g0014 a0001c0003t0001g0034 a0001c0003t0001g0090 a0001c0003t0001g0091 a0003c0005t0001g0028 a0007c0014t0001g0078	65	394	0.1650	25	c.-26 others(42): Show c.-26-4794_-26-4770dupGTCTGGGGTTGTGCTGTGTGTGCGT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	382	0.0026	25	c.57+ others(40): Show c.57+1430_57+1454dupAAAAAAAAAAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(18): Show ATTATTATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20129.hp1 HG00639.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0344 a0001c0001t0001g0010 a0001c0001t0001g0344	2	382	0.0052	25	c.850 others(44): Show c.850-12093_850-12092insATTATTATTATTTTTTTTTTTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132349014	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	368	0.0027	25	c.782 others(40): Show c.782-906_782-905insACACACACACACACACACACACACA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9			chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	444	0.0023	25	c.735 others(40): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACR_chr22_50733204_50750339	50748541	A A	AGTGTGCC others(18): Show AGTGTGCCCACCTAGACAACCGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	464	0.0022	25	c.33 others(36): Show c.3334_*3335insGTGTGCCCACCTAGACAACCGAGGG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3203		chr22	TogoVar
ACR_chr22_50733204_50750339	50748705	A A	AGACAACC others(18): Show AGACAACCGAGGGGTGTGCCCACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	464	0.0022	25	c.34 others(36): Show c.3498_*3499insGACAACCGAGGGGTGTGCCCACCTG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3367		chr22	TogoVar
ACR_chr22_50733204_50750339	50748812	A A	ACCGAGGG others(18): Show ACCGAGGGGTGTGCCCACCTAGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA18906.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0070 a0001c0001t0001g0084	2	464	0.0043	25	c.36 others(36): Show c.3605_*3606insCCGAGGGGTGTGCCCACCTAGACAT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3474		chr22	TogoVar
ACR_chr22_50733204_50750339	50748908	A A	AGACAACC others(18): Show AGACAACCGAGGGGTGTGCCCACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01515.hp1 others(10): Show HG00099.hp2 HG00423.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG03490.hp2 NA18942.hp2 NA18967.hp1 NA18989.hp2 NA19011.hp1 NA19088.hp1 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0004 a0003c0003 a0006c0004	a0003c0003t0001 a0006c0004t0001 a0003c0003t0001 a0006c0004t0001	a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0134 others(1): Show a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0134 a0006c0004t0001g0012	13	464	0.0280	25	c.37 others(36): Show c.3701_*3702insGACAACCGAGGGGTGTGCCCACCTG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3570		chr22	TogoVar
ACSL5_chr10_112369116_112433376	112423213	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0282 a0001c0012t0001g0282	1	364	0.0028	25	c.159 others(42): Show c.1593+772_1593+773insTATATATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	364	0.0028	25	c.159 others(42): Show c.1593+778_1593+779insTATATATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	364	0.0028	25	c.159 others(42): Show c.1593+781_1593+782insATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAC others(18): Show ATATATACTATATATAGTATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01257.hp1 others(41): Show HG00673.hp1 HG01256.hp1 HG01257.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02040.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03710.hp2 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18994.hp1 NA19005.hp1 NA19010.hp1 NA19054.hp1 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19081.hp1 NA19088.hp2 NA19091.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0009 a0002c0018 others(3): Show a0002c0003 a0002c0009 a0002c0018 a0002c0019 a0002c0029 a0004c0005	a0002c0003t0005 a0002c0003t0013 a0002c0009t0009 others(4): Show a0002c0003t0005 a0002c0003t0013 a0002c0009t0009 a0002c0018t0005 a0002c0019t0006 a0002c0029t0010 a0004c0005t0006	a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 others(40): Show a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0046 a0002c0003t0005g0050 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0064 a0002c0003t0005g0065 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0069 a0002c0003t0005g0072 a0002c0003t0005g0074 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0085 a0002c0003t0013g0047 a0002c0003t0013g0048 a0002c0003t0013g0079 a0002c0009t0009g0076 a0002c0018t0005g0071 a0002c0018t0005g0075 a0002c0019t0006g0070 a0002c0029t0010g0080 a0004c0005t0006g0040 a0004c0005t0006g0094 a0004c0005t0006g0095 a0004c0005t0006g0096 a0004c0005t0006g0097 a0004c0005t0006g0098 a0004c0005t0006g0099 a0004c0005t0006g0100 a0004c0005t0006g0101 a0004c0005t0006g0102 a0004c0005t0006g0103	44	388	0.1134	25	c.-8- others(40): Show c.-8-1848_-8-1847insGTATATATACTATATATAGTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566718	G G	GTATATAC others(18): Show GTATATACTATATATAGTATATACTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0323 a0001c0002t0004g0323	1	388	0.0026	25	c.-8- others(40): Show c.-8-1890_-8-1866dupTAGTATATACTATATATAGTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431971	A A	ATAATAAT others(18): Show ATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG02148.hp1 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0017 a0003c0003t0003g0017	2	434	0.0046	25	c.130 others(42): Show c.1308+650_1308+651insTAATAATAATAATAATAATAATAAT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213793	T T	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG02280.hp1 others(5): Show HG00438.hp2 HG00558.hp1 HG02280.hp1 HG02559.hp1 HG03139.hp2 HG03540.hp2 HG04184.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0086 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0086 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0016g0121 a0001c0001t0023g0132 a0001c0001t0026g0059	8	290	0.0276	25	c.135 others(44): Show c.1355-3081_1355-3057dupTCTCTTCTCTTCTCTTCTCTTCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(18): Show TCTCTTCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01257.hp1 others(14): Show HG00738.hp1 HG01074.hp1 HG01257.hp1 HG01884.hp2 HG02148.hp1 HG02155.hp2 HG02723.hp2 HG02895.hp2 HG03139.hp1 HG03831.hp1 HG04115.hp1 NA18949.hp2 NA19009.hp2 NA19043.hp1 NA19058.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 a0001c0002t0002 a0001c0016t0002 a0002c0003t0005 a0002c0004t0003	a0001c0001t0003g0094 a0001c0001t0003g0252 a0001c0001t0003g0255 others(14): Show a0001c0001t0003g0094 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0266 a0001c0001t0004g0058 a0001c0001t0004g0082 a0001c0001t0004g0087 a0001c0001t0004g0187 a0001c0001t0004g0191 a0001c0001t0004g0197 a0001c0001t0029g0264 a0001c0002t0002g0009 a0001c0016t0002g0039 a0002c0003t0005g0154 a0002c0004t0003g0229 a0002c0004t0003g0282	17	290	0.0586	25	c.135 others(44): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTCCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(18): Show TCTCTTCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18953.hp2 NA18960.hp2 others(2): Show HG01070.hp1 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0216 others(2): Show a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0216 a0001c0002t0002g0073 a0001c0002t0002g0100	5	290	0.0172	25	c.135 others(44): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTG1_chr17_81504971_81517799	81517303	C C	CCCGGCTC others(18): Show CCCGGCTCAGCCCTGTGCCTGCCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	370	0.0027	25	c.-46 others(36): Show c.-4601_-4577dupCGTGGCAGGCACAGGGCTGAGCCGG	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding		4505		chr17	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(18): Show CAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02622.hp2 others(2): Show HG01891.hp2 HG02559.hp2 HG02622.hp2 HG02970.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0132 a0001c0001t0007g0032 a0001c0002t0002g0219 others(2): Show a0001c0001t0001g0132 a0001c0001t0007g0032 a0001c0002t0002g0219 a0001c0002t0004g0284 a0001c0002t0004g0351	5	416	0.0120	25	c.40 others(36): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03490.hp2 HG03017.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0217 a0001c0001t0001g0143 a0001c0001t0001g0217	2	284	0.0070	25	c.195 others(42): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(18): Show GGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04115.hp1 HG04184.hp2 others(3): Show HG00642.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18952.hp1 NA18983.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0005 a0006c0022 a0001c0001 a0002c0005 a0006c0022	a0001c0001t0001 a0001c0001t0004 a0002c0005t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0005t0004 a0006c0022t0001	a0001c0001t0001g0264 a0001c0001t0001g0318 a0001c0001t0001g0341 others(3): Show a0001c0001t0001g0264 a0001c0001t0001g0318 a0001c0001t0001g0341 a0001c0001t0004g0015 a0002c0005t0004g0305 a0006c0022t0001g0203	6	344	0.0174	25	c.448 others(40): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236758289	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG03579.hp1 HG01243.hp2 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0005 a0001c0004t0002 a0001c0004t0005	a0001c0004t0002g0064 a0001c0004t0005g0056 a0001c0004t0005g0081 a0001c0004t0002g0064 a0001c0004t0005g0056 a0001c0004t0005g0081	3	344	0.0087	25	c.230 others(42): Show c.2301+669_2301+670insTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735670	C C	CGCGGGGC others(18): Show CGCGGGGCGGGGGTTCTGGGGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0288 a0001c0001t0017g0288	1	314	0.0032	25	c.62 others(36): Show c.6238_*6239insGCGGGGCGGGGGTTCTGGGGGCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4082		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735912	C C	CGGGGCGG others(18): Show CGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0037	a0001c0016t0037g0165 a0001c0016t0037g0165	1	314	0.0032	25	c.64 others(36): Show c.6480_*6481insGGGGCGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4324		chr19	TogoVar

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