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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACOXL_chr2_110727573_111123548	110846641	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02451.hp1 others(6): Show HG01167.hp1 HG01243.hp1 HG02451.hp1 HG02818.hp1 HG02897.hp2 HG03239.hp1 HG03831.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0005c0007 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0004c0005t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0005t0002 a0005c0007t0001 a0006c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0113 a0002c0002t0001g0019 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0113 a0002c0002t0001g0019 a0002c0002t0001g0061 a0002c0002t0001g0103 a0002c0002t0001g0114 a0004c0005t0002g0022 a0005c0007t0001g0062 a0006c0006t0001g0001	9	150	0.0600	20	c.788 others(37): Show c.788+5251_788+5270dupCACACACACACACACACACA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP2_chr11_47234302_47253814	47245857	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18959.hp2 NA19091.hp2 HG03225.hp1 NA18959.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064	3	358	0.0084	20	c.298 others(33): Show c.298-43_298-24dupACACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	3/10			chr11	TogoVar
ACP2_chr11_47234302_47253814	47253134	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp2 others(46): Show HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG01070.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG02004.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02738.hp1 HG02818.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18949.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19082.hp1 NA19089.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0005 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0003 a0002c0002t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0062 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0005g0063 a0001c0003t0003g0008 a0001c0003t0003g0024 a0001c0003t0003g0057 a0002c0002t0001g0085 a0002c0008t0001g0082	49	358	0.1369	20	c.-43 others(31): Show c.-4346_-4345insACACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		4321		chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG02258.hp2 others(5): Show HG01106.hp2 HG01175.hp1 HG02258.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 others(3): Show a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 a0001c0002t0003 a0001c0002t0004 a0001c0003t0032	a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0019g0228 others(5): Show a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0019g0228 a0001c0001t0035g0159 a0001c0002t0003g0065 a0001c0002t0004g0063 a0001c0002t0004g0066 a0001c0003t0032g0064	8	368	0.0217	20	c.121 others(37): Show c.121-2667_121-2648dupACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132347844	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02486.hp1 others(7): Show HG01243.hp2 HG02055.hp2 HG02486.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018	a0001c0002t0003g0131 a0001c0002t0003g0144 a0001c0002t0004g0085 others(7): Show a0001c0002t0003g0131 a0001c0002t0003g0144 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0130 a0001c0002t0004g0171 a0001c0002t0004g0174 a0001c0002t0004g0176 a0001c0002t0018g0062 a0001c0002t0018g0188	10	368	0.0272	20	c.782 others(37): Show c.782-2067_782-2048dupACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp2 others(25): Show HG00099.hp2 HG00280.hp2 HG00735.hp2 HG00741.hp1 HG01167.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01978.hp2 HG02148.hp2 HG02486.hp1 HG02683.hp2 HG02698.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 NA18953.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0003t0006 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0003t0006 a0001c0003t0031	a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0004g0130 others(20): Show a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0004g0130 a0001c0002t0004g0171 a0001c0002t0004g0174 a0001c0002t0004g0176 a0001c0002t0004g0178 a0001c0003t0006g0008 a0001c0003t0006g0016 a0001c0003t0006g0017 a0001c0003t0006g0018 a0001c0003t0006g0045 a0001c0003t0006g0069 a0001c0003t0006g0070 a0001c0003t0006g0071 a0001c0003t0006g0072 a0001c0003t0006g0073 a0001c0003t0006g0075 a0001c0003t0006g0077 a0001c0003t0006g0078 a0001c0003t0006g0232 a0001c0003t0006g0268 a0001c0003t0031g0076	28	368	0.0761	20	c.782 others(35): Show c.782-906_782-905insACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132355471	C C	CTTATTTT others(13): Show CTTATTTTATTTTATCTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(114): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18972.hp1 NA18978.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19030.hp1 NA19057.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0006 a0001c0002 a0001c0003 a0003c0006	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 others(9): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0018 a0001c0002t0023 a0001c0002t0033 a0001c0002t0034 a0001c0003t0006 a0001c0003t0031 a0001c0003t0032 a0003c0006t0003 a0003c0006t0011	a0001c0002t0003g0011 a0001c0002t0003g0039 a0001c0002t0003g0051 others(107): Show a0001c0002t0003g0011 a0001c0002t0003g0039 a0001c0002t0003g0051 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0065 a0001c0002t0003g0090 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0100 a0001c0002t0003g0107 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0121 a0001c0002t0003g0131 a0001c0002t0003g0140 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0198 a0001c0002t0003g0243 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0258 a0001c0002t0003g0266 a0001c0002t0003g0278 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0004g0011 a0001c0002t0004g0015 a0001c0002t0004g0038 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0060 a0001c0002t0004g0063 a0001c0002t0004g0066 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0092 a0001c0002t0004g0108 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0130 a0001c0002t0004g0139 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0168 a0001c0002t0004g0171 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0178 a0001c0002t0004g0257 a0001c0002t0004g0303 a0001c0002t0011g0043 a0001c0002t0011g0052 a0001c0002t0011g0089 a0001c0002t0011g0099 a0001c0002t0011g0101 a0001c0002t0011g0256 a0001c0002t0011g0279 a0001c0002t0011g0288 a0001c0002t0018g0062 a0001c0002t0018g0143 a0001c0002t0018g0188 a0001c0002t0023g0067 a0001c0002t0023g0068 a0001c0002t0033g0106 a0001c0002t0034g0096 a0001c0003t0006g0008 a0001c0003t0006g0016 a0001c0003t0006g0017 a0001c0003t0006g0018 a0001c0003t0006g0045 a0001c0003t0006g0069 a0001c0003t0006g0070 a0001c0003t0006g0071 a0001c0003t0006g0072 a0001c0003t0006g0073 a0001c0003t0006g0075 a0001c0003t0006g0077 a0001c0003t0006g0078 a0001c0003t0006g0088 a0001c0003t0006g0103 a0001c0003t0006g0104 a0001c0003t0006g0112 a0001c0003t0006g0114 a0001c0003t0006g0232 a0001c0003t0006g0268 a0001c0003t0006g0272 a0001c0003t0031g0076 a0001c0003t0032g0064 a0003c0006t0003g0207 a0003c0006t0011g0249	117	368	0.3179	20	c.969 others(37): Show c.969-1200_969-1181dupCTTATTTTATTTTATTTTAT	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01943.hp1 HG02165.hp1 others(3): Show HG01358.hp1 HG01943.hp1 HG02165.hp1 HG02293.hp1 HG03927.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0016 a0001c0001t0001g0067	6	444	0.0135	20	c.735 others(35): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39102715	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01978.hp1 HG02165.hp1 others(8): Show HG00733.hp2 HG01978.hp1 HG02165.hp1 HG02559.hp1 NA18950.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA19067.hp2 NA19072.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0003t0003 a0001c0003t0006 others(2): Show a0001c0001t0006 a0001c0003t0003 a0001c0003t0006 a0001c0003t0019 a0001c0004t0004	a0001c0001t0006g0092 a0001c0003t0003g0233 a0001c0003t0003g0259 others(8): Show a0001c0001t0006g0092 a0001c0003t0003g0233 a0001c0003t0003g0259 a0001c0003t0003g0270 a0001c0003t0003g0280 a0001c0003t0003g0298 a0001c0003t0006g0393 a0001c0003t0006g0395 a0001c0003t0006g0396 a0001c0003t0019g0005 a0001c0004t0004g0067	11	402	0.0274	20	c.111 others(39): Show c.1113+1212_1113+1231dupTTCTTTCTTTCTTTCTTTCT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01099.hp2 others(24): Show HG00609.hp2 HG00639.hp1 HG01099.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01993.hp1 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02698.hp2 HG02965.hp2 HG03704.hp2 NA18940.hp2 NA18952.hp1 NA18971.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19075.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0015 a0001c0001t0002g0005 a0001c0001t0002g0092 others(2): Show a0001c0001t0001g0015 a0001c0001t0002g0005 a0001c0001t0002g0092 a0001c0001t0002g0113 a0001c0001t0006g0091	27	426	0.0634	20	c.53- others(33): Show c.53-701_53-682dupTATATATATATATATATATA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG06807.hp2 others(3): Show HG02965.hp2 HG02970.hp1 HG06807.hp2 NA18995.hp1 NA19010.hp1 NA19011.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0009 others(1): Show a0001c0001 a0002c0003 a0002c0009 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 a0003c0004t0009	a0001c0001t0001g0296 a0001c0001t0001g0297 a0002c0003t0001g0131 others(3): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0002c0003t0001g0131 a0002c0003t0001g0166 a0002c0009t0001g0012 a0003c0004t0009g0115	6	350	0.0171	20	c.132 others(37): Show c.132-7623_132-7622insTCCTTTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78235958	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0193 a0001c0001t0008g0193	1	350	0.0029	20	c.-14 others(31): Show c.-1477_-1458dupGTGTGTGTGTGTGTGTGTGT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		1394		chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	262	0.0038	20	c.738 others(35): Show c.738+297_738+316dupGTGTGTGTGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(13): Show TTGTGTGTGTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0002 a0011c0009t0002	a0011c0009t0002g0147 a0011c0009t0002g0147	1	262	0.0038	20	c.738 others(35): Show c.738+274_738+275insTTGTGTGTGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6190812	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0061 a0015c0025t0001g0061	1	262	0.0038	20	c.35 others(35): Show c.35+141_*35+160dupACACACACACACACACACAC	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6197813	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTGTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	262	0.0038	20	c.51 others(31): Show c.5181_*5182insTTTTTTTTTTTTTGTTTTTT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding		4723		chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6197813	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18973.hp2 HG01433.hp1 NA18973.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0133 a0003c0005t0001g0243 a0003c0005t0001g0133 a0003c0005t0001g0243	2	262	0.0076	20	c.51 others(31): Show c.5181_*5182insTTTTTTTTTTTTTTTTTTTT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding		4723		chr19	TogoVar
ACSF3_chr16_89088852_89161233	89142486	T T	TCTGCAGA others(13): Show TCTGCAGAGACACAGCCACGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0035 a0005c0017t0035	a0005c0017t0035g0359 a0005c0017t0035g0359	1	368	0.0027	20	c.136 others(39): Show c.1367-2769_1367-2750dupCAGCCACGCCTGCAGAGACA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	364	0.0028	20	c.159 others(37): Show c.1593+781_1593+782insAATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20627869	C C	CATACATA others(13): Show CATACATATATACATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19088.hp2 NA18988.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0157 a0001c0001t0002g0158	2	318	0.0063	20	c.130 others(37): Show c.1300-554_1300-553insATATATATGTATATATGTAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20664147	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp2 HG01109.hp2 others(16): Show HG00408.hp2 HG01099.hp2 HG01109.hp2 HG02055.hp2 HG02074.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02886.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03669.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp2 NA19043.hp1 NA19055.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0007c0011	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0007c0011t0002	a0001c0001t0002g0167 a0001c0001t0002g0200 a0001c0001t0002g0201 others(16): Show a0001c0001t0002g0167 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0002t0001g0046 a0001c0002t0001g0192 a0001c0003t0001g0115 a0001c0003t0001g0121 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0007t0001g0005 a0001c0007t0001g0069 a0007c0011t0002g0229	19	318	0.0598	20	c.913 others(37): Show c.913-2294_913-2275dupAATAAATAAATAAATAAATA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	6/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20678011	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02056.hp2 others(32): Show HG01099.hp1 HG01884.hp1 HG02056.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 NA18939.hp2 NA18950.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18988.hp1 NA19054.hp1 NA19064.hp1 NA19070.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0004 a0004c0014	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001 a0004c0014t0002	a0001c0001t0002g0025 a0001c0001t0002g0102 a0001c0001t0002g0153 others(32): Show a0001c0001t0002g0025 a0001c0001t0002g0102 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0262 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0286 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0002t0001g0173 a0001c0002t0001g0214 a0001c0005t0001g0248 a0001c0005t0001g0282 a0001c0007t0001g0067 a0001c0007t0001g0069 a0002c0004t0001g0270 a0002c0004t0001g0288 a0004c0014t0002g0068	35	318	0.1101	20	c.611 others(37): Show c.611+4225_611+4244dupATTTATTTATTTATTTATTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(13): Show AAATAATATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0103 a0003c0003t0003g0103	1	434	0.0023	20	c.130 others(37): Show c.1308+626_1308+627insTAATATAATAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS1_chr20_25001237_25063139	25037001	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01106.hp2 others(9): Show HG00642.hp2 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02148.hp2 HG02630.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0004c0008	a0001c0003t0003 a0001c0007t0001 a0001c0007t0006 others(2): Show a0001c0003t0003 a0001c0007t0001 a0001c0007t0006 a0001c0010t0003 a0004c0008t0001	a0001c0003t0003g0005 a0001c0003t0003g0008 a0001c0003t0003g0086 others(7): Show a0001c0003t0003g0005 a0001c0003t0003g0008 a0001c0003t0003g0086 a0001c0003t0003g0093 a0001c0003t0003g0132 a0001c0007t0001g0083 a0001c0007t0006g0204 a0001c0010t0003g0073 a0004c0008t0001g0029 a0004c0008t0001g0030	12	244	0.0492	20	c.432 others(37): Show c.432-6044_432-6043insCCTTCCTTCCTTCCTTCCTT	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	2/13			chr20	TogoVar
ACSS2_chr20_34871612_34932959	34877909	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01106.hp2 others(15): Show HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01258.hp1 HG01993.hp1 HG02486.hp1 HG03017.hp2 HG04115.hp1 NA18940.hp2 NA18967.hp2 NA18972.hp1 NA18993.hp1 NA19077.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0154 a0001c0001t0001g0156 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0014t0001g0155	18	312	0.0577	20	c.178 others(37): Show c.178+1101_178+1120dupATAGATAGATAGATAGATAG	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18954.hp2 NA18966.hp2 others(3): Show HG02080.hp1 NA18954.hp2 NA18966.hp2 NA18978.hp2 NA18993.hp2 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0007 a0001c0002 a0009c0007	a0001c0002t0001 a0009c0007t0001 a0001c0002t0001 a0009c0007t0001	a0001c0002t0001g0021 a0001c0002t0001g0050 a0001c0002t0001g0055 others(3): Show a0001c0002t0001g0021 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0082 a0001c0002t0001g0104 a0009c0007t0001g0124	6	312	0.0192	20	c.375 others(39): Show c.375-13646_375-13627dupCCTTCCTTCCTTCCTTCCTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81107511	C C	CACACATA others(13): Show CACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	290	0.0035	20	c.312 others(37): Show c.312-2048_312-2047insCACATATATATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213702	T T	TCTCCCCT others(13): Show TCTCCCCTCCGCTCCCCTCCG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	290	0.0035	20	c.135 others(39): Show c.1355-3175_1355-3156dupCCCTCCGCTCCCCTCCGCTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213737	C C	CCTCCGCT others(13): Show CCTCCGCTCGGCTCCTCTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	290	0.0035	20	c.135 others(39): Show c.1355-3155_1355-3136dupGGCTCCTCTCCTCTCCGCTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213793	T T	TTTCTCTT others(13): Show TTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00741.hp2 others(13): Show HG00099.hp2 HG00609.hp1 HG00741.hp2 HG01346.hp1 HG01361.hp1 HG01928.hp1 HG02895.hp1 HG02970.hp2 HG04204.hp1 NA18957.hp1 NA18966.hp2 NA18973.hp1 NA18995.hp2 NA19007.hp1 NA19011.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0015 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0031 a0002c0004t0001	a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0069 others(13): Show a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0196 a0001c0001t0001g0226 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0286 a0001c0001t0015g0043 a0001c0001t0031g0248 a0002c0004t0001g0283	16	290	0.0552	20	c.135 others(39): Show c.1355-3076_1355-3057dupTCTCTTCTCTTCTCTTCTCT	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(13): Show TCTCTTCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01106.hp1 others(20): Show HG00099.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01993.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02809.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03669.hp1 NA18939.hp1 NA18994.hp2 NA19007.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0004 a0004c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0002t0002 a0001c0005t0005 a0001c0008t0002 a0002c0003t0005 a0002c0004t0003 a0004c0012t0002	a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0258 others(20): Show a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0004g0034 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0122 a0001c0001t0027g0084 a0001c0002t0002g0138 a0001c0005t0005g0222 a0001c0008t0002g0133 a0001c0008t0002g0134 a0002c0003t0005g0157 a0002c0003t0005g0279 a0002c0004t0003g0230 a0004c0012t0002g0066	23	290	0.0793	20	c.135 others(39): Show c.1355-3057_1355-3056insTCTCTTCTCTCCTCTCCTCT	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(13): Show TCTCTTCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18969.hp2 NA18994.hp1 others(1): Show HG02451.hp2 NA18969.hp2 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0211 a0001c0001t0003g0217 a0001c0002t0002g0070 others(1): Show a0001c0001t0003g0211 a0001c0001t0003g0217 a0001c0002t0002g0070 a0001c0002t0002g0227	4	290	0.0138	20	c.135 others(39): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213851	C C	CTCTCCTC others(13): Show CTCTCCTCTCCTCTCTTCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	290	0.0035	20	c.135 others(39): Show c.1355-3046_1355-3045insCTCTCCTCTCTTCTCTTCTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213896	T T	TTTTCCTT others(13): Show TTTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01952.hp1 HG02257.hp1 others(5): Show HG01106.hp2 HG01952.hp1 HG02257.hp1 HG03492.hp1 NA18943.hp2 NA18972.hp2 NA19054.hp2 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0002 a0004c0012t0002 a0001c0002t0002 a0004c0012t0002	a0001c0002t0002g0036 a0001c0002t0002g0078 a0001c0002t0002g0079 others(5): Show a0001c0002t0002g0036 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0180 a0001c0002t0002g0203 a0004c0012t0002g0066	8	290	0.0276	20	c.135 others(39): Show c.1355-3005_1355-3004insTTTCCTTCCTTCCTTCCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG02027.hp1 others(12): Show HG00099.hp2 HG01346.hp1 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02647.hp2 HG03139.hp2 HG03492.hp2 HG03831.hp2 NA18966.hp2 NA18970.hp2 NA18981.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 a0001c0011t0006	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0196 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0008g0076 a0001c0001t0023g0132 a0001c0011t0006g0140	15	290	0.0517	20	c.135 others(39): Show c.1355-2913_1355-2894dupTTTCTTTCTTTCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTB_chr7_5522148_5535601	5525613	A A	ATGAATGA others(13): Show ATGAATGAATGGATGAATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG01258.hp1 HG00738.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	3	370	0.0081	20	c.21 others(31): Show c.2134_*2135insCTCATTCATCCATTCATTCA	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding		1534		chr7	TogoVar
ACTG2_chr2_73888008_73924865	73906462	T T	TAATAAAT others(13): Show TAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02965.hp2 HG00735.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0004 a0001c0002t0006g0004	2	416	0.0048	20	c.256 others(37): Show c.256-2209_256-2208insTAAATAAATAAATAAATAAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(13): Show CAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02896.hp2 others(2): Show HG00639.hp2 HG02451.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0002t0001 a0001c0003t0004	a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0003t0004g0031 others(1): Show a0001c0002t0001g0017 a0001c0002t0001g0091 a0001c0003t0004g0031 a0001c0003t0004g0065	5	416	0.0120	20	c.40 others(31): Show c.4066_*4067insAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179579455	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18980.hp2 NA19001.hp1 HG02809.hp2 NA18980.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095	3	380	0.0079	20	c.769 others(37): Show c.769-1169_769-1150dupCACACACACACACACACACA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL8_chr1_17750333_17832063	17802415	C C	CCGTGCGT others(13): Show CCGTGCGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	366	0.0027	20	c.-24 others(39): Show c.-24-20570_-24-20569insCGTGCGTGTGTGTGTGTGTG	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2			chr1	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG01891.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02976.hp1 HG03130.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	7	356	0.0197	20	c.25 others(31): Show c.2597_*2598insCTCTCTCTCTCTCTCTCTCT	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	284	0.0035	20	c.195 others(37): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	344	0.0029	20	c.876 others(33): Show c.876+83_876+84insTATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0095 a0001c0013t0023g0095	1	344	0.0029	20	c.876 others(35): Show c.876+104_876+105insATATATATATATATATGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38642969	A A	ACAGGTTC others(13): Show ACAGGTTCTCACTTTGTCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0069 a0001c0002t0050g0069	1	314	0.0032	20	c.-47 others(31): Show c.-4777_-4776insCAGGTTCTCACTTTGTCACC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4679		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38673477	A A	ATATATAT others(13): Show ATATATATATTCATATATATT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	314	0.0032	20	c.162 others(39): Show c.162+25580_162+25599dupTCATATATATTTATATATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38673528	C C	CATATATA others(13): Show CATATATACTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	314	0.0032	20	c.162 others(39): Show c.162+25649_162+25668dupCTTATATATATTTATATATA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735772	C C	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	314	0.0032	20	c.63 others(31): Show c.6340_*6341insGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4184		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735793	G G	GGGGCGGG others(13): Show GGGGCGGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01081.hp1 HG00323.hp1 HG00741.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0177 a0001c0003t0003g0191 a0001c0003t0003g0213 a0001c0003t0003g0177 a0001c0003t0003g0191 a0001c0003t0003g0213	3	314	0.0096	20	c.63 others(31): Show c.6361_*6362insGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4205		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735842	C C	CGGGGCGG others(13): Show CGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03139.hp1 NA18959.hp2 HG00323.hp1 HG03139.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0049 a0001c0003t0003 a0001c0001t0002 a0001c0001t0049 a0001c0003t0003	a0001c0001t0002g0162 a0001c0001t0049g0076 a0001c0003t0003g0191 a0001c0001t0002g0162 a0001c0001t0049g0076 a0001c0003t0003g0191	3	314	0.0096	20	c.64 others(31): Show c.6410_*6411insGGGGCGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4254		chr19	TogoVar

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