Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGAAGG others(96): Show TAGGAAGGTAGGAAGGTAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGAAAGAGAAAGAAAGAGAG AGAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0006 a0003c0003t0003g0006	1	350	0.0029	103	c.126 others(120): Show c.1268-871_1268-870insCTCTCTCTCTTTCTTTCTCTTTCCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTACCTTCCTACCTTCCT		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298233	A A	AAGGTAGG others(96): Show AAGGTAGGAAGGTAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGAAAGAGAAAGAAAGAGAG AGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 HG01175.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0024 a0003c0003t0003g0039 a0003c0003t0003g0024 a0003c0003t0003g0039	2	350	0.0057	103	c.126 others(120): Show c.1268-875_1268-874insCTCTCTCTCTTTCTTTCTCTTTCCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTACCTTCCTACCT		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298236	G G	GTAGGAAG others(96): Show GTAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGAAAGAGAAAGAAAGAGA GAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0008	a0006c0009t0008g0164 a0006c0009t0008g0164	1	350	0.0029	103	c.126 others(120): Show c.1268-878_1268-877insTCTCTCTCTTTCTTTCTCTTTCCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTA		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298236	G G	GTAGGAAG others(96): Show GTAGGAAGGTAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGAAAGAGAAAGAAAGAGA GAGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0018 a0003c0003t0003g0018	1	350	0.0029	103	c.126 others(120): Show c.1268-878_1268-877insTCTCTCTCTTTCTTTCTCTTTCCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTACCTTCCTA		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298241	A A	AAGGTAGG others(96): Show AAGGTAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGAAAGAGAAAGAAAGAGAG AGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	350	0.0029	103	c.126 others(120): Show c.1268-883_1268-882insCTCTCTCTCTTTCTTTCTCTTTCCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTACCT		ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38						chr17	TogoVar
ABCC4_chr13_95014835_95306451	95126815	C C	CAAAATAT others(96): Show CAAAATATATATATTTATATATATTTAAGTACACCAAATATATATATTTA TATATATTTAAGTACACCAAATATATATATTTATATATATTTAAGTACAC CAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0003 a0002c0061t0003	a0002c0061t0003g0055 a0002c0061t0003g0055	1	248	0.0040	103	c.245 others(124): Show c.2456-10815_2456-10814insTTTGGTGTACTTAAATATATATAA ATATATATATTTGGTGTACTTAAATATATATAAATATATATATTTGGTGT ACTTAAATATATATAAATATATATATTTT		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30						chr13	TogoVar
ABHD13_chr13_108213392_108239243	108215430	C C	CCCCCCAC others(96): Show CCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCTCCCAACCCCC CACCCCCCCGCCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCCCACCT CCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	390	0.0026	103	c.-32 others(114): Show c.-3250_-3249insCCCCCACCTCCCAACCCCCCACCCCCCCCGCCCC CACCTCCCAACCCCCCACCCCCCCGCCCCCCACCTCCCAACCCCCCACCC CCCCCGCCCCCACCTCCCA		ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding					2961		chr13	TogoVar
ABR_chr17_998519_1184981	1009567	T T	TCCCCCGT others(96): Show TCCCCCGTTACCTTTTCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGCC ACTCCCCGTTACCTTTTCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGC CACT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	337	0.0030	103	c.234 others(120): Show c.2342+111_2342+112insAGTGGCCCCAACCCCACCTCCTCAGTCC CTCCTCGTGAAAAGGTAACGGGGAGTGGCCCCAACCCCACCTCCTCAGTC CCTCCTCGTGAAAAGGTAACGGGGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22						chr17	TogoVar
ACSBG1_chr15_78162468_78239565	78226793	T T	TATATATA others(96): Show TATATATATAATATATATAATATATATATATATAATATATATAATATATA TAATATATATATATATATAATATATATAATATATATAATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0019 a0002c0010t0019	a0002c0010t0019g0340 a0002c0010t0019g0340	1	350	0.0029	103	c.131 others(120): Show c.131+7577_131+7578insTATATATATATATATATTATATATATTA TATATATTATATATATATATATATTATATATATTATATATATTATATATA TATATATTATATATATTATATATAT		ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100058248	T T	TCCTATCC others(96): Show TCCTATCCCGGCTCTAACCCTCCTATCCCAGCTCTTAACACCCCTATCCC GGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAA CACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02970.hp2 HG03098.hp1 others(5): Show HG00735.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0021 others(4): Show a0001c0005 a0001c0007 a0001c0021 a0002c0001 a0002c0055 a0002c0066 a0002c0071	a0001c0005t0009 a0001c0007t0023 a0001c0021t0016 others(5): Show a0001c0005t0009 a0001c0007t0023 a0001c0021t0016 a0002c0001t0016 a0002c0001t0024 a0002c0055t0014 a0002c0066t0006 a0002c0071t0025	a0001c0005t0009g0015 a0001c0007t0023g0215 a0001c0021t0016g0113 others(5): Show a0001c0005t0009g0015 a0001c0007t0023g0215 a0001c0021t0016g0113 a0002c0001t0016g0205 a0002c0001t0024g0175 a0002c0055t0014g0002 a0002c0066t0006g0176 a0002c0071t0025g0162	8	228	0.0351	103	c.213 others(122): Show c.2138-4195_2138-4194insGGTGTTAGAGCCGGGATAGGGGTGTT AAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCTG GGATAGGAGGGTTAGAGCCGGGATAGG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100225837	G G	GCCATTCA others(96): Show GCCATTCAGTCCTTACAGCAGTCACGGCCTCTGCGCCATTCAGTCCTTAC AGCAGTCACGGTCTCTGTGCCATTCAGTCCTTATAGCAGTCACAGCCTCT GTGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0069 a0002c0052t0069	a0002c0052t0069g0076 a0002c0052t0069g0076	1	228	0.0044	103	c.107 others(124): Show c.1076-26415_1076-26414insGCACAGAGGCTGTGACTGCTATAA GGACTGAATGGCACAGAGACCGTGACTGCTGTAAGGACTGAATGGCGCAG AGGCCGTGACTGCTGTAAGGACTGAATGG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179337905	A A	ATGAGCCT others(96): Show ATGAGCCTCACAGCAGGCCTGGGTGAGGACCTGGCCTTCACCTCCCAGCT GACTCTGCACGAGGGCCTGCATTCACTCACTCACCCACCCAGGTGTGGCC CCTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0061 a0002c0031t0001g0061	1	276	0.0036	103	c.534 others(120): Show c.534+5861_534+5862insCAGGGGCCACACCTGGGTGGGTGAGTGA GTGAATGCAGGCCCTCGTGCAGAGTCAGCTGGGAGGTGAAGGCCAGGTCC TCACCCAGGCCTGCTGTGAGGCTCA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456052	A A	ATATATTT others(96): Show ATATATTTTATATATAGTATATATACTGTATATACTTTATATATAGTATA TATACTGTATATACTTTATATATAGTATATATACTGTATATACTATATAT ATTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0007 a0001c0006t0005g0007	1	182	0.0055	103	c.505 others(122): Show c.505-41082_505-41081insAAATATATATAGTATATACAGTATAT ATACTATATATAAAGTATATACAGTATATATACTATATATAAAGTATATA CAGTATATATACTATATATAAAATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456054	A A	ATATTTTA others(96): Show ATATTTTATATATAGTATATATACTGTATATACTTTATATATAGTATATA TACTGTATATACTTTATATATAGTATATATACTGTATATACTATATATAT TTTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0018 a0005c0018t0018	a0005c0018t0018g0031 a0005c0018t0018g0031	1	182	0.0055	103	c.505 others(122): Show c.505-41084_505-41083insCAAAATATATATAGTATATACAGTAT ATATACTATATATAAAGTATATACAGTATATATACTATATATAAAGTATA TACAGTATATATACTATATATAAAATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADGRD1_chr12_130948907_131146469	131046610	T T	TGCTCCTC others(96): Show TGCTCCTCCCTGGTCAGTGTCCTCCCTGGTCAGGGTCCTCCCTGGTCAGC GCTCCCTCCCTGGTCAGTGTCCTCTCTCCCTGGTCAGTGTCCTCCCTGGT CAGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0054 a0001c0005t0014g0054	1	242	0.0041	103	c.147 others(124): Show c.1474-30189_1474-30188insTCCTCCCTGGTCAGTGTCCTCCCT GGTCAGGGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCTCT CCCTGGTCAGTGTCCTCCCTGGTCAGCGC		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(96): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	218	0.0046	103	c.32- others(116): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA		ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20						chr19	TogoVar
ADGRG6_chr6_142297007_142451261	142318103	T T	TATATATA others(96): Show TATATATATTATATATTTATATTTATATATTATATATTTATATAATATAT ATTTATATAATATATATTTATATATTATATATTTATATATTATATATTTA TATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG00408.hp2 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0002 a0001c0002t0003 a0002c0003t0002	a0001c0002t0003g0087 a0002c0003t0002g0174 a0001c0002t0003g0087 a0002c0003t0002g0174	2	260	0.0077	103	c.103 others(120): Show c.103+8475_103+8476insTATATTTATATATTATATATTTATATAA TATATATTTATATAATATATATTTATATATTATATATTTATATATTATAT ATTTATATAATATATATTATATATT		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142318279	A A	ATATATAT others(96): Show ATATATATTTATATATTATATATATTTATATTATATATTTATATATTATA TATATTTATATTATATATTTATATTATATATTTATATATTATATATATTT ATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02723.hp2 others(3): Show HG01891.hp2 HG02451.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0009g0053 others(3): Show a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0009g0053 a0001c0001t0010g0061 a0001c0001t0011g0081 a0001c0001t0011g0082	6	260	0.0231	103	c.103 others(120): Show c.103+8708_103+8709insTATATATTTATATATTATATATATTTAT ATTATATATTTATATATTATATATATTTATATTATATATTTATATATTAT ATATATTTATATTATATATTTATAT		ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61848034	A A	ATATATAT others(96): Show ATATATATTATAAAATATATTATATATAATATATAATATATTATATATAA TATAAAATATATTATATATAATATAAAATATATTATATATAATATAAAAT ATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0028 a0001c0017t0028	a0001c0017t0028g0019 a0001c0017t0028g0019	1	58	0.0172	103	c.148 others(124): Show c.1480+34152_1480+34153insTATAAAATATATTATATATAATAT ATAATATATTATATATAATATAAAATATATTATATATAATATAAAATATA TTATATATAATATAAAATATATTATATAT		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
AK7_chr14_96387128_96494427	96415744	A A	AATTAAAT others(96): Show AATTAAATTAATTTAATACATTAATTAATTAAATTAATTTAATACATTAA TTAATTAAATTAATTTAATACATTAATTAATTAAATTAATTTAATACATT AATT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02976.hp1 others(2): Show HG02717.hp2 HG02723.hp1 HG02976.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0313 a0001c0001t0002g0163 a0001c0001t0002g0285 others(2): Show a0001c0001t0001g0313 a0001c0001t0002g0163 a0001c0001t0002g0285 a0001c0001t0002g0305 a0001c0001t0002g0312	5	316	0.0158	103	c.499 others(120): Show c.499-5077_499-5076insTTAAATTAATTTAATACATTAATTAATT AAATTAATTTAATACATTAATTAATTAAATTAATTTAATACATTAATTAA TTAAATTAATTTAATACATTAATTA		AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(96): Show TATATATATATGTATGTATATATATATATATATATATGTGTGTGTATATA TATGTATACATATATATATGTGTGTGTATATATATGTATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG02071.hp1 others(4): Show HG00544.hp1 HG00558.hp1 HG02071.hp1 NA18948.hp1 NA18980.hp2 NA18982.hp1 NA19054.hp1	a0002 a0012 a0002 a0012	a0002c0001 a0012c0015 a0002c0001 a0012c0015	a0002c0001t0002 a0002c0001t0037 a0012c0015t0017 a0002c0001t0002 a0002c0001t0037 a0012c0015t0017	a0002c0001t0002g0014 a0002c0001t0002g0041 a0002c0001t0002g0054 others(4): Show a0002c0001t0002g0014 a0002c0001t0002g0041 a0002c0001t0002g0054 a0002c0001t0002g0241 a0002c0001t0002g0277 a0002c0001t0037g0033 a0012c0015t0017g0242	7	314	0.0223	103	c.416 others(124): Show c.4162-25661_4162-25660insATATATATATGTATGTATATATAT ATATATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGT GTATATATATGTATATATATATATATATA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36						chr15	TogoVar
AMY1C_chr1_103744898_103763692	103744936	C C	CAAGTCAG others(96): Show CAAGTCAGCAACAAATGCTGGCCTATTATTTGAGCCAATTCGTAGAGGCA GTCCAAACCTAGGGATGAAATTTTGAAGAAGTACACAGGTTACTTCAGGA GCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	340	0.0029	103	c.-51 others(114): Show c.-5177_-5176insAAGTCAGCAACAAATGCTGGCCTATTATTTGAGC CAATTCGTAGAGGCAGTCCAAACCTAGGGATGAAATTTTGAAGAAGTACA CAGGTTACTTCAGGAGCTT		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding					4961		chr1	TogoVar
ANKRD36_chr2_97108153_97269521	97269444	T T	TGGGGTAT others(96): Show TGGGGTATCGCCCAGTGAGGGACCTCCCAACCGGGGCCTCCGGCCACCCC CGCCTTTATTCTGGGACTGACAGAGATTTGAATTCTCCCTGGCATGGAGG TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	212	0.0047	103	c.51 others(114): Show c.5122_*5123insGGGGTATCGCCCAGTGAGGGACCTCCCAACCGGG GCCTCCGGCCACCCCCGCCTTTATTCTGGGACTGACAGAGATTTGAATTC TCCCTGGCATGGAGGTCTC		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding					4924		chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97269509	A A	ACTGACAG others(96): Show ACTGACAGAGATTTGAATTCTCCCTGGCATGGAGGTCTCGGGGTCTGGCC CAGTGAGCGACCTCCCAACTGGGGTCTCTGGCCACCCCTGCCAGTGTTCT GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	212	0.0047	103	c.51 others(114): Show c.5187_*5188insCTGACAGAGATTTGAATTCTCCCTGGCATGGAGG TCTCGGGGTCTGGCCCAGTGAGCGACCTCCCAACTGGGGTCTCTGGCCAC CCCTGCCAGTGTTCTGGGG		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding					4989		chr2	TogoVar
ANKRD62_chr18_12088843_12134764	12094540	G G	GGGGCGTT others(96): Show GGGGCGTTGGATGTTGGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGG ACTGTGGTAGGAAGTGGAGTTGGGTGGGGGTTGGAAGGGGTGAAGGACTG TGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(151): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0012 a0013	a0002c0003 a0002c0012 a0002c0015 others(6): Show a0002c0003 a0002c0012 a0002c0015 a0003c0004 a0004c0005 a0005c0006 a0005c0019 a0012c0017 a0013c0016	a0002c0003t0002 a0002c0003t0016 a0002c0003t0019 others(21): Show a0002c0003t0002 a0002c0003t0016 a0002c0003t0019 a0002c0003t0020 a0002c0003t0022 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0039 a0002c0003t0040 a0002c0012t0016 a0002c0015t0002 a0003c0004t0003 a0003c0004t0006 a0003c0004t0013 a0004c0005t0003 a0004c0005t0006 a0005c0006t0006 a0005c0006t0021 a0005c0006t0038 a0005c0019t0006 a0012c0017t0003 a0013c0016t0002	a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0010 others(87): Show a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0014 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0100 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0176 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0016g0037 a0002c0003t0019g0168 a0002c0003t0019g0172 a0002c0003t0019g0173 a0002c0003t0020g0010 a0002c0003t0020g0174 a0002c0003t0022g0013 a0002c0003t0022g0175 a0002c0003t0032g0096 a0002c0003t0033g0171 a0002c0003t0034g0010 a0002c0003t0035g0037 a0002c0003t0039g0013 a0002c0003t0040g0013 a0002c0012t0016g0041 a0002c0015t0002g0191 a0003c0004t0003g0001 a0003c0004t0003g0009 a0003c0004t0003g0018 a0003c0004t0003g0028 a0003c0004t0003g0036 a0003c0004t0003g0039 a0003c0004t0003g0042 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0084 a0003c0004t0003g0087 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0006g0040 a0003c0004t0013g0078 a0003c0004t0013g0079 a0004c0005t0003g0001 a0004c0005t0003g0088 a0004c0005t0003g0092 a0004c0005t0006g0001 a0004c0005t0006g0089 a0005c0006t0006g0038 a0005c0006t0006g0085 a0005c0006t0006g0086 a0005c0006t0021g0083 a0005c0006t0021g0097 a0005c0006t0021g0098 a0005c0006t0038g0077 a0005c0019t0006g0038 a0012c0017t0003g0018 a0013c0016t0002g0058	154	392	0.3929	103	c.218 others(118): Show c.218+308_218+309insCGTTGGATGTTGGGGGGACTGTGGTGGGGG TAGAGTTGGGTGGGGGACTGTGGTAGGAAGTGGAGTTGGGTGGGGGTTGG AAGGGGTGAAGGACTGTGGTGGG		ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD62_chr18_12088843_12134764	12094621	T T	TTGGGGTG others(96): Show TTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGGTGG GGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGGGT TGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0038 a0005c0006t0038	a0005c0006t0038g0077 a0005c0006t0038g0077	1	392	0.0026	103	c.218 others(118): Show c.218+437_218+438insGGTAGAGTTGGGTGGGGGACTGTATTAGGA GGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGA TGGGGTGGGGGACTGTGGTGGGG		ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD62_chr18_12088843_12134764	12094621	T T	TTGGGGTG others(96): Show TTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGGACTGTGGTG GGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGGGT TGGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0006 a0005c0018t0006	a0005c0018t0006g0101 a0005c0018t0006g0101	1	392	0.0026	103	c.218 others(118): Show c.218+425_218+426insGACTGTGGTGGGGGTAGAGTTGGGTGGGGG ACTGTATTAGGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGG TGGGGGGTGGGATGGGGTGGGGG		ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
AP3S2_chr15_89825599_89898994	89854856	G G	GCCCCCCC others(96): Show GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	312	0.0032	103	c.345 others(122): Show c.345+16618_345+16619insGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGG		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
API5_chr11_43306996_43349529	43335212	C C	CCCTCACC others(96): Show CCCTCACCACCACTCCCTGCCACCAACAAATACATTAGAATTCTTGCCTG ATTTCTGTCTCTGCAGGATCTCTTCCACATTCCTCCTTCTTATAAGAGCA CAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	384	0.0026	103	c.127 others(115): Show c.1279-65_1316dupCCTCACCACCACTCCCTGCCACCAACAAATACA TTAGAATTCTTGCCTGATTTCTGTCTCTGCAGGATCTCTTCCACATTCCT CCTTCTTATAAGAGCACAGT	p.Thr others(5): Show p.Thr440fs	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/14	1449/3726	1317/1575	439/524		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116818369	A A	AATATATA others(96): Show AATATATATATGAATATATATGAATATATATATGAATATATATATGAATA TATATGAATATATATATGAATATATATGAATATATATATGAATTATATAT GAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	103	c.24 others(114): Show c.2497_*2498insATTCATATATAATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATAT		APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding					2330		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818483	T T	TATATATG others(96): Show TATATATGAATATATATATGAATTATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATTATATATGAATATATATATG AATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	462	0.0043	103	c.23 others(114): Show c.2383_*2384insTATTCATATATATATTCATATATAATTCATATAT ATATTCATATATATTCATATATATATTCATATATATATTCATATATAATT CATATATATATTCATATAT		APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding					2216		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144531269	G G	GGACTGGA others(96): Show GGACTGGACACAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	246	0.0041	103	c.298 others(120): Show c.2981-399_2981-398insACTCCCCACCTGCTGCTTGCTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTT TCTGCCGTGCCTGCTGTGTCCAGTC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCA others(96): Show CAGGTGCATCCTGGAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATGGGT AGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp2 others(14): Show HG00140.hp1 HG00558.hp1 HG00597.hp2 HG01175.hp2 HG01884.hp1 HG02165.hp2 HG02818.hp2 NA18942.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18982.hp1 NA18994.hp1 NA19002.hp2 NA19057.hp1 NA19070.hp2 NA19087.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0005 a0001c0006 others(9): Show a0001c0002 a0001c0005 a0001c0006 a0001c0018 a0001c0042 a0001c0118 a0002c0033 a0002c0073 a0002c0079 a0002c0125 a0002c0149 a0007c0053	a0001c0002t0001 a0001c0002t0026 a0001c0002t0049 others(12): Show a0001c0002t0001 a0001c0002t0026 a0001c0002t0049 a0001c0005t0001 a0001c0006t0001 a0001c0018t0008 a0001c0018t0025 a0001c0042t0038 a0001c0118t0008 a0002c0033t0002 a0002c0073t0001 a0002c0079t0056 a0002c0125t0064 a0002c0149t0055 a0007c0053t0001	a0001c0002t0001g0064 a0001c0002t0001g0198 a0001c0002t0001g0259 others(14): Show a0001c0002t0001g0064 a0001c0002t0001g0198 a0001c0002t0001g0259 a0001c0002t0026g0192 a0001c0002t0049g0021 a0001c0005t0001g0325 a0001c0006t0001g0264 a0001c0018t0008g0295 a0001c0018t0025g0296 a0001c0042t0038g0155 a0001c0118t0008g0294 a0002c0033t0002g0006 a0002c0073t0001g0062 a0002c0079t0056g0043 a0002c0125t0064g0310 a0002c0149t0055g0009 a0007c0053t0001g0016	17	363	0.0468	103	c.352 others(122): Show c.3521-1637_3521-1636insATCCTGGAAGGAGGTGCACTCTCACT GTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCAC TGTTTTTCTGGATGGGTAGCTAGGTGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCT others(96): Show CAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGATGGGT AGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0010 a0001c0045t0010	a0001c0045t0010g0187 a0001c0045t0010g0187	1	363	0.0028	103	c.352 others(122): Show c.3521-1541_3521-1540insTAGGTGCTCCCTGAAAGGAGGTGCAC TCTCACTGTTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCA CTCTCACTGTTTCTCTGGATGGGTAGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955106	C C	CAGGTGCT others(96): Show CAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATGGGT AGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG01074.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0220 a0001c0003t0003g0161 a0001c0003t0001g0220 a0001c0003t0003g0161	2	363	0.0055	103	c.352 others(122): Show c.3521-1636_3521-1635insTCCTGAAAGGAGGTGCACTCTCACTG TTCCTCTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACT GTTTTTCTGGATGGGTAGCTAGGTGCT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1955395	C C	CTGTTCCT others(96): Show CTGTTCCTCTGGAGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTC ACAGTTTCTCTGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTC ACTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19011.hp1 HG03491.hp2 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0035 a0005c0088 a0001c0035 a0005c0088	a0001c0035t0001 a0005c0088t0003 a0001c0035t0001 a0005c0088t0003	a0001c0035t0001g0045 a0005c0088t0003g0024 a0001c0035t0001g0045 a0005c0088t0003g0024	2	363	0.0055	103	c.352 others(122): Show c.3521-1350_3521-1349insCCTCTGGAGGATAGCCAGGTGCATCC TGGAAGGAGGCACACTCTCACAGTTTCTCTGGATGGGTAGCTAGGTGCTC CCTGAAAGGAGGTGCACTCACTGTGTT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7450840	G G	GAGATGTT others(96): Show GAGATGTTAATACAGGATCTTGCTTTCTGTTTCCATTTCCGAGATGTTAA TGTGGATCTTGCTTTCCATTTCCGAGATGTTAATACGGGACCTTGCTGTC CCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01070.hp1 others(21): Show HG00099.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG03688.hp2 NA18939.hp2 NA18983.hp1 NA18998.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp1 NA19079.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0002 a0002c0006 a0003c0003 others(3): Show a0001c0002 a0002c0006 a0003c0003 a0004c0011 a0004c0015 a0012c0028	a0001c0002t0002 a0001c0002t0003 a0002c0006t0003 others(5): Show a0001c0002t0002 a0001c0002t0003 a0002c0006t0003 a0002c0006t0007 a0003c0003t0001 a0004c0011t0003 a0004c0015t0003 a0012c0028t0018	a0001c0002t0002g0129 a0001c0002t0003g0041 a0001c0002t0003g0075 others(21): Show a0001c0002t0002g0129 a0001c0002t0003g0041 a0001c0002t0003g0075 a0001c0002t0003g0079 a0001c0002t0003g0085 a0001c0002t0003g0106 a0001c0002t0003g0121 a0001c0002t0003g0128 a0001c0002t0003g0131 a0001c0002t0003g0135 a0001c0002t0003g0158 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0003g0249 a0001c0002t0003g0280 a0002c0006t0003g0232 a0002c0006t0007g0273 a0002c0006t0007g0274 a0002c0006t0007g0275 a0003c0003t0001g0177 a0004c0011t0003g0141 a0004c0015t0003g0123 a0004c0015t0003g0124 a0012c0028t0018g0045	24	298	0.0805	103	c.173 others(120): Show c.1738-299_1738-298insACAGGATCTTGCTTTCTGTTTCCATTTC CGAGATGTTAATGTGGATCTTGCTTTCCATTTCCGAGATGTTAATACGGG ACCTTGCTGTCCCCAAGATGTTAAT		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049164	G G	GGGGGGCA others(96): Show GGGGGGCAGAGGGGAACATATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	308	0.0033	103	c.55 others(114): Show c.5566_*5567insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCA TATGTTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2939		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049332	G G	GGGCAGAG others(96): Show GGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGG GGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACA TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	308	0.0033	103	c.53 others(114): Show c.5398_*5399insTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCC CTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCC CCATGTGTTCCCCTCTGCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2771		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049373	G G	GGGGCAGA others(96): Show GGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACA TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	308	0.0033	103	c.53 others(114): Show c.5357_*5358insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CATGTGTTCTCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2730		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGGGGAAC others(96): Show GGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACA CATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGG CAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	308	0.0033	103	c.52 others(114): Show c.5246_*5247insTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGGGGAAC others(96): Show GGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACA CATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGG CAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	308	0.0033	103	c.52 others(114): Show c.5246_*5247insTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATGT GTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTC TGCCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049537	G G	GGGGGCAG others(96): Show GGGGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGA GGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	308	0.0033	103	c.51 others(114): Show c.5193_*5194insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2566		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049578	G G	GGAGGGCA others(96): Show GGAGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	308	0.0033	103	c.51 others(114): Show c.5152_*5153insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCA TGTGTTCTCCTCTGCCCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2525		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049580	G G	GGGGCAGA others(96): Show GGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACA TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	308	0.0033	103	c.51 others(114): Show c.5150_*5151insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CATGTGTTCTCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2523		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(96): Show AGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGC AGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	308	0.0033	103	c.49 others(114): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGGGGAAC others(96): Show GGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACA CATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGG CAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01074.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0208 a0001c0001t0002g0148 a0001c0001t0002g0208	2	308	0.0065	103	c.48 others(114): Show c.4853_*4854insTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049994	G G	GGGGCAGA others(96): Show GGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAG GAGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACA TGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0118 a0002c0002t0003g0118	1	308	0.0033	103	c.47 others(114): Show c.4736_*4737insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCTCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCC CATGTGTTCTCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2109		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050025	G G	GGAACACA others(96): Show GGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACAT GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	308	0.0033	103	c.47 others(114): Show c.4705_*4706insTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCTCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2078		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050129	G G	GGAACACA others(96): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAG AGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0305 a0002c0002t0006g0305	1	308	0.0033	103	c.46 others(114): Show c.4601_*4602insTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1974		chr8	TogoVar

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Search Results (Total: 10000 hits)