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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
ANKRD66_chr6_46741933_46764506	46744355	C C	CTCTTCCT others(18): Show CTCTTCCTCTTCCTCTTCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	402	0.0025	25	c.-27 others(36): Show c.-2732_-2731insTCTTCCTCTTCCTCTTCTTTCTTCT		ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding					2577		chr6	TogoVar
ANKS1B_chr12_98738974_99989936	98967631	A A	AGAGGGGA others(18): Show AGAGGGGAGGGGAGGGAAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG02258.hp1 others(13): Show HG01081.hp1 HG01257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03579.hp2 HG04228.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0002t0018 a0001c0002t0026 a0001c0003t0004 a0001c0003t0015 a0001c0003t0016 a0001c0007t0007 a0002c0009t0008	a0001c0001t0001g0007 a0001c0001t0003g0020 a0001c0001t0005g0005 others(13): Show a0001c0001t0001g0007 a0001c0001t0003g0020 a0001c0001t0005g0005 a0001c0001t0007g0021 a0001c0001t0011g0002 a0001c0001t0013g0027 a0001c0001t0019g0014 a0001c0001t0024g0048 a0001c0001t0025g0046 a0001c0002t0018g0037 a0001c0002t0026g0047 a0001c0003t0004g0023 a0001c0003t0015g0015 a0001c0003t0016g0036 a0001c0007t0007g0042 a0002c0009t0008g0026	16	48	0.3333	25	c.277 others(46): Show c.2778+85525_2778+85526insCCCTCCCCTTCCCTCCCCTCCCCT C		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	17/26						chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99667353	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0040 a0002c0005t0002g0040	1	48	0.0208	25	c.112 others(46): Show c.1129-12168_1129-12144dupCTTTTCTTTTCTTTTCTTTTCTTT T		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	8/26						chr12	TogoVar
ANO2_chr12_5557655_5950259	5562500	A A	AAGGAGAG others(18): Show AAGGAGAGGAGAGGAGAGGAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG01109.hp2 others(14): Show HG00621.hp2 HG00738.hp1 HG01109.hp2 HG01433.hp2 HG02080.hp2 HG02129.hp1 HG03017.hp2 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18960.hp1 NA18991.hp2 NA19084.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0004c0008 a0004c0009 a0010c0023	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0006t0002 a0004c0008t0001 a0004c0009t0001 a0010c0023t0001	a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0084 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0022 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0092 a0002c0003t0002g0124 a0002c0006t0002g0125 a0002c0006t0002g0128 a0004c0008t0001g0066 a0004c0009t0001g0067 a0010c0023t0001g0122	17	162	0.1049	25	c.77 others(34): Show c.774_*798dupCTCCTCTCCTCTCCTCTCCTCTCCT		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding					154		chr12	TogoVar
ANO2_chr12_5557655_5950259	5902810	A A	AGGGAGGG others(18): Show AGGGAGGGGAGGGGAGAGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	162	0.0062	25	c.534 others(44): Show c.534+18229_534+18230insCTCCCCTCCTCTCCCCTCCCCTCCC		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24						chr12	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CACATATA others(18): Show CACATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0142 a0001c0002t0011g0142	1	190	0.0053	25	c.115 others(44): Show c.1154+2184_1154+2185insCATATATATAATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26586503	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp2 NA19240.hp2 HG04199.hp1 HG04228.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0010 a0001c0006t0010 a0001c0007t0003 a0001c0005t0010 a0001c0006t0010 a0001c0007t0003	a0001c0005t0010g0008 a0001c0006t0010g0073 a0001c0007t0003g0061 a0001c0005t0010g0008 a0001c0006t0010g0073 a0001c0007t0003g0061	3	190	0.0158	25	c.144 others(46): Show c.1448-11844_1448-11843insTTTTTTTTTTTTTTTTTTTTTTTT T		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO6_chr12_45211095_45437349	45255818	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	234	0.0043	25	c.70+ others(42): Show c.70+39447_70+39448insTTTTTTTTTTTTTTTTTTTTTTTTT		ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45336399	C C	CTTATTTA others(18): Show CTTATTTATGTTAATACTACATTAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02809.hp2 others(3): Show HG02572.hp1 HG02647.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03471.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0003 a0006c0016 a0011c0009 a0001c0003 a0006c0016 a0011c0009	a0001c0003t0001 a0001c0003t0005 a0006c0016t0005 others(1): Show a0001c0003t0001 a0001c0003t0005 a0006c0016t0005 a0011c0009t0005	a0001c0003t0001g0011 a0001c0003t0001g0015 a0001c0003t0005g0010 others(3): Show a0001c0003t0001g0011 a0001c0003t0001g0015 a0001c0003t0005g0010 a0001c0003t0005g0032 a0006c0016t0005g0014 a0011c0009t0005g0012	6	234	0.0256	25	c.279 others(42): Show c.279+4987_279+5011dupTAATACTACATTAAATTATTTATGT		ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
ANTXR1_chr2_69008179_69254327	69219422	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	206	0.0049	25	c.143 others(46): Show c.1435-25803_1435-25802insACACACACACACACACACACACAC A		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17						chr2	TogoVar
ANTXR2_chr4_79896146_80078229	80015853	C C	CAGGAAAG others(18): Show CAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0124 a0001c0001t0029g0124	1	268	0.0037	25	c.945 others(42): Show c.945+3020_945+3044dupTTCCTTTCCTTTCCTTTCCTTTCCT		ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	11/16						chr4	TogoVar
ANXA4_chr2_69737134_69832112	69794522	A A	ATTATGTT others(18): Show ATTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	346	0.0029	25	c.97+ others(40): Show c.97+6411_97+6435dupGTTATGTTATGTTATGTTATGTTAT		ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
AOAH_chr7_36507941_36729494	36517206	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0041 a0012c0019t0001g0041	1	306	0.0033	25	c.160 others(44): Show c.1600-3827_1600-3826insAGAAAGAAAGAAAGAAAGAAAGAAA		AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20						chr7	TogoVar
AOAH_chr7_36507941_36729494	36679544	T T	TTATACAT others(18): Show TTATACATTATTATATGTATAATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(220): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0003 a0001c0007 others(19): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0012 a0001c0018 a0001c0021 a0001c0023 a0002c0002 a0002c0004 a0003c0008 a0003c0013 a0004c0005 a0005c0006 a0006c0010 a0007c0022 a0008c0015 a0009c0017 a0010c0025 a0011c0020 a0012c0019 a0013c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0012t0001 a0001c0012t0006 a0001c0018t0001 a0001c0021t0001 a0001c0023t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0003c0008t0001 a0003c0008t0002 a0003c0008t0007 a0003c0013t0002 a0004c0005t0001 a0005c0006t0004 a0006c0010t0001 a0006c0010t0002 a0007c0022t0001 a0008c0015t0001 a0008c0015t0002 a0009c0017t0001 a0010c0025t0010 a0011c0020t0001 a0012c0019t0001 a0013c0024t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(220): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0145 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0003g0024 a0001c0001t0003g0045 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0005g0001 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0264 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0269 a0001c0003t0001g0276 a0001c0003t0001g0289 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0002g0263 a0001c0003t0002g0275 a0001c0003t0002g0300 a0001c0003t0003g0292 a0001c0007t0001g0016 a0001c0007t0001g0029 a0001c0007t0001g0157 a0001c0007t0003g0143 a0001c0009t0001g0099 a0001c0012t0001g0256 a0001c0012t0001g0257 a0001c0012t0006g0002 a0001c0018t0001g0021 a0001c0021t0001g0052 a0001c0023t0002g0112 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0002g0167 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0189 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0216 a0002c0002t0002g0225 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0243 a0002c0004t0001g0205 a0002c0004t0001g0213 a0002c0004t0001g0217 a0002c0004t0001g0219 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0223 a0002c0004t0001g0224 a0002c0004t0001g0226 a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0232 a0003c0008t0001g0040 a0003c0008t0001g0047 a0003c0008t0001g0136 a0003c0008t0002g0032 a0003c0008t0007g0009 a0003c0013t0002g0268 a0004c0005t0001g0023 a0005c0006t0004g0003 a0005c0006t0004g0004 a0005c0006t0004g0005 a0005c0006t0004g0006 a0005c0006t0004g0007 a0005c0006t0004g0008 a0006c0010t0001g0206 a0006c0010t0001g0229 a0006c0010t0001g0233 a0006c0010t0002g0204 a0006c0010t0002g0215 a0007c0022t0001g0046 a0008c0015t0001g0290 a0008c0015t0002g0305 a0009c0017t0001g0074 a0010c0025t0010g0250 a0011c0020t0001g0097 a0012c0019t0001g0041 a0013c0024t0001g0186	223	306	0.7288	25	c.224 others(42): Show c.224-5560_224-5536dupCATATTATACATATAATAATGTATA		AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20						chr7	TogoVar
AOC2_chr17_42839580_42855707	42848065	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	290	0.0035	25	c.158 others(43): Show c.1589-1019_1589-995dupTTTTTTTTTTTTTTTTTTTTTTTTT		AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848065	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	25	c.-32 others(36): Show c.-3279_-3278insTTTTTTTTTTTTTTTTTTTTTTTTT		AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding					3133		chr17	TogoVar
AOPEP_chr9_94721699_95092159	95091767	A A	AATAAAAA others(18): Show AATAAAAAAAAAAAAAATAAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	182	0.0055	25	c.50 others(36): Show c.5090_*5091insATAAAAAAAAAAAAAATAAAAAATT		AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding					4609		chr9	TogoVar
AOX1_chr2_200581014_200676495	200588726	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	370	0.0027	25	c.45+ others(40): Show c.45+2594_45+2595insTTTTTTTTTTTTTTTTTTTTTTTTT		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00673.hp2 others(7): Show HG00597.hp2 HG00673.hp1 HG00673.hp2 HG02132.hp2 HG02300.hp2 HG04115.hp1 NA18957.hp2 NA18979.hp2 NA18989.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0267 a0001c0001t0001g0310 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0358 a0001c0001t0002g0316 a0002c0002t0002g0138	10	370	0.0270	25	c.317 others(42): Show c.3171+229_3171+230insAAAAAAAAAAATATATATATATATA		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1B1_chr22_29322680_29393570	29349589	C C	CTGGGCAA others(18): Show CTGGGCAACAGAGTGGTGTGCAGAGG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	378	0.0027	25	c.127 others(42): Show c.1272-207_1272-206insCCTCTGCACACCACTCTGTTGCCCA		AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	10/22						chr22	TogoVar
AP1G1_chr16_71724000_71813834	71758579	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAACTAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0282 a0001c0001t0013g0282	1	320	0.0031	25	c.108 others(42): Show c.1088+228_1088+229insTTTTTTTTTAGTTTTTTTTTTTTTT		AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	11/22						chr16	TogoVar
AP1M1_chr19_16192911_16250906	16197975	T T	TCGCTGCC others(18): Show TCGCTGCCGCCGCCACCGCCCTCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(149): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18997.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(80): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0004t0121	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0006g0001 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0008g0228 a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0014g0035 a0001c0001t0014g0036 a0001c0001t0014g0039 a0001c0001t0014g0061 a0001c0001t0018g0038 a0001c0001t0018g0072 a0001c0001t0018g0081 a0001c0001t0019g0046 a0001c0001t0019g0068 a0001c0001t0019g0086 a0001c0001t0020g0278 a0001c0001t0020g0279 a0001c0001t0020g0280 a0001c0001t0029g0017 a0001c0001t0029g0018 a0001c0001t0030g0019 a0001c0001t0030g0020 a0001c0001t0031g0247 a0001c0001t0031g0258 a0001c0001t0032g0273 a0001c0001t0032g0283 a0001c0001t0033g0264 a0001c0001t0033g0276 a0001c0001t0034g0048 a0001c0001t0034g0050 a0001c0001t0035g0030 a0001c0001t0035g0049 a0001c0001t0036g0277 a0001c0001t0036g0281 a0001c0001t0037g0233 a0001c0001t0037g0234 a0001c0001t0038g0004 a0001c0001t0039g0041 a0001c0001t0039g0084 a0001c0001t0040g0052 a0001c0001t0040g0058 a0001c0001t0115g0224 a0001c0001t0116g0251 a0001c0001t0117g0244 a0001c0001t0118g0282 a0001c0001t0119g0271 a0001c0001t0120g0270 a0001c0001t0122g0274 a0001c0001t0123g0259 a0001c0001t0124g0011 a0001c0001t0125g0013 a0001c0001t0126g0014 a0001c0001t0127g0012 a0001c0001t0128g0238 a0001c0001t0129g0232 a0001c0001t0130g0225 a0001c0001t0131g0236 a0001c0001t0132g0230 a0001c0001t0133g0235 a0001c0001t0134g0243 a0001c0001t0135g0272 a0001c0001t0136g0250 a0001c0001t0137g0248 a0001c0001t0138g0242 a0001c0001t0139g0275 a0001c0001t0140g0245 a0001c0001t0141g0267 a0001c0001t0142g0266 a0001c0001t0143g0265 a0001c0001t0144g0269 a0001c0001t0145g0268 a0001c0001t0146g0255 a0001c0001t0147g0240 a0001c0001t0148g0254 a0001c0001t0149g0231 a0001c0001t0150g0015 a0001c0001t0151g0227 a0001c0001t0152g0079 a0001c0001t0153g0033 a0001c0001t0154g0066 a0001c0001t0155g0056 a0001c0001t0156g0047 a0001c0001t0157g0292 a0001c0001t0158g0063 a0001c0001t0159g0222 a0001c0001t0160g0220 a0001c0001t0161g0045 a0001c0001t0162g0051 a0001c0001t0163g0031 a0001c0001t0164g0293 a0001c0001t0165g0032 a0001c0001t0166g0286 a0001c0001t0167g0023 a0001c0001t0168g0221 a0001c0001t0169g0223 a0001c0001t0170g0057 a0001c0001t0171g0034 a0001c0001t0172g0055 a0001c0001t0173g0054 a0001c0001t0174g0080 a0001c0001t0175g0083 a0001c0001t0176g0053 a0001c0004t0121g0249	152	308	0.4935	25	c.-43 others(32): Show c.-43_-19dupCCGCCACCGCCCTCGGCCGCTGCCG		AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	1/12				18	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16198008	G G	GCCGCCAC others(18): Show GCCGCCACCGCCCTCGGCCGCTGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0067 a0001c0001t0114g0067	1	308	0.0033	25	c.-19 others(32): Show c.-19_-18insCCGCCACCGCCCTCGGCCGCTGCCA		AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	1/12				18		chr19	TogoVar
AP1M1_chr19_16192911_16250906	16208814	A A	ATTGGCTT others(18): Show ATTGGCTTTTGGAAATTGTGAAGATT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	308	0.0033	25	c.399 others(40): Show c.399-213_399-189dupGGCTTTTGGAAATTGTGAAGATTTT		AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(11): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 NA18944.hp2 NA18945.hp2 NA18974.hp1 NA18975.hp1 NA18998.hp2 NA19009.hp1 NA19009.hp2 NA19067.hp1 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0012 a0001c0006t0002 a0001c0002t0002 a0001c0002t0012 a0001c0006t0002	a0001c0002t0002g0009 a0001c0002t0002g0019 a0001c0002t0002g0089 others(11): Show a0001c0002t0002g0009 a0001c0002t0002g0019 a0001c0002t0002g0089 a0001c0002t0002g0105 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0150 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0272 a0001c0002t0012g0341 a0001c0006t0002g0109	14	394	0.0355	25	c.25 others(36): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTT		AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding					2123		chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp2 NA18990.hp1 others(2): Show HG00544.hp2 HG02155.hp2 NA18990.hp1 NA19010.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0003g0054 others(2): Show a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0003g0054 a0001c0001t0004g0203 a0001c0001t0008g0196	5	318	0.0157	25	c.427 others(42): Show c.427-6280_427-6279insTATATATATATATATATATATATAT		AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5						chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(18): Show GGAAGAAAAGAAAAGAAAAGAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01261.hp2 HG02015.hp2 others(11): Show HG00673.hp1 HG01261.hp2 HG02015.hp2 HG02071.hp2 NA18953.hp1 NA18954.hp2 NA18965.hp2 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18994.hp2 NA19009.hp1 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0049 a0001c0001t0006 a0001c0001t0049	a0001c0001t0006g0023 a0001c0001t0006g0026 a0001c0001t0006g0072 others(11): Show a0001c0001t0006g0023 a0001c0001t0006g0026 a0001c0001t0006g0072 a0001c0001t0006g0078 a0001c0001t0006g0103 a0001c0001t0006g0235 a0001c0001t0006g0251 a0001c0001t0006g0272 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0301 a0001c0001t0006g0317 a0001c0001t0006g0329 a0001c0001t0049g0255	14	340	0.0412	25	c.23 others(36): Show c.2376_*2377insTCTTTTCTTTTCTTTTCTTTTCTTC		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5				2376		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223775014	T T	TTCAGAAA others(18): Show TTCAGAAATAACAGGACAAGAGTCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(252): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0003t0021 a0001c0003t0034 a0002c0002t0002 a0005c0005t0046	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0032 others(251): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0209 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0263 a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0330 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0092 a0001c0001t0003g0184 a0001c0001t0003g0198 a0001c0001t0003g0224 a0001c0001t0003g0270 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0312 a0001c0001t0005g0064 a0001c0001t0005g0067 a0001c0001t0005g0083 a0001c0001t0005g0088 a0001c0001t0005g0199 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0266 a0001c0001t0005g0283 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0324 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0007g0061 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0008g0176 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0223 a0001c0001t0008g0230 a0001c0001t0008g0233 a0001c0001t0008g0243 a0001c0001t0011g0022 a0001c0001t0011g0036 a0001c0001t0011g0200 a0001c0001t0011g0214 a0001c0001t0011g0228 a0001c0001t0011g0238 a0001c0001t0012g0099 a0001c0001t0012g0106 a0001c0001t0012g0180 a0001c0001t0012g0182 a0001c0001t0012g0207 a0001c0001t0013g0142 a0001c0001t0013g0143 a0001c0001t0013g0165 a0001c0001t0013g0231 a0001c0001t0014g0015 a0001c0001t0014g0030 a0001c0001t0014g0033 a0001c0001t0014g0307 a0001c0001t0015g0069 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0217 a0001c0001t0016g0045 a0001c0001t0016g0047 a0001c0001t0016g0089 a0001c0001t0016g0288 a0001c0001t0017g0096 a0001c0001t0017g0185 a0001c0001t0017g0210 a0001c0001t0017g0212 a0001c0001t0018g0068 a0001c0001t0018g0104 a0001c0001t0018g0149 a0001c0001t0019g0086 a0001c0001t0019g0139 a0001c0001t0019g0265 a0001c0001t0021g0323 a0001c0001t0021g0336 a0001c0001t0025g0048 a0001c0001t0025g0079 a0001c0001t0026g0241 a0001c0001t0026g0319 a0001c0001t0027g0332 a0001c0001t0027g0335 a0001c0001t0028g0117 a0001c0001t0028g0178 a0001c0001t0029g0303 a0001c0001t0032g0216 a0001c0001t0032g0225 a0001c0001t0033g0093 a0001c0001t0035g0025 a0001c0001t0036g0311 a0001c0001t0037g0105 a0001c0001t0038g0278 a0001c0001t0039g0090 a0001c0001t0040g0236 a0001c0001t0041g0260 a0001c0001t0042g0152 a0001c0001t0043g0259 a0001c0001t0044g0150 a0001c0001t0045g0227 a0001c0001t0051g0256 a0001c0001t0052g0254 a0001c0001t0054g0005 a0001c0001t0055g0172 a0001c0001t0056g0003 a0001c0001t0057g0118 a0001c0001t0058g0100 a0001c0001t0059g0082 a0001c0001t0060g0190 a0001c0001t0067g0221 a0001c0001t0069g0059 a0001c0001t0071g0338 a0001c0001t0072g0339 a0001c0003t0021g0320 a0001c0003t0034g0164 a0002c0002t0002g0171 a0002c0002t0002g0291 a0002c0002t0002g0292 a0005c0005t0046g0065	255	340	0.7500	25	c.291 others(40): Show c.291+886_291+887insCTGACTCTTGTCCTGTTATTTCTGA		AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	3/4						chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19002.hp2 HG00621.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0003 a0001c0002t0002 a0001c0005t0003	a0001c0002t0002g0249 a0001c0005t0003g0140 a0001c0002t0002g0249 a0001c0005t0003g0140	2	268	0.0075	25	c.67+ others(40): Show c.67+9537_67+9538insTTTTTTTTTTTTTTTTTTTTTTTTT		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	993808	C C	CACCCGCG others(18): Show CACCCGCGCGCTGCTCCTGTCCACCT	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0262 a0004c0014t0001g0262	1	268	0.0037	25	c.160 others(34): Show c.1608_1632dupCCGCGCGCTGCTCCTGTCCACCTAC	p.Ile others(5): Show p.Ile545fs	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	13/22	1785/4587	1633/2820	545/939		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02165.hp2 HG03453.hp1 others(7): Show HG01993.hp1 HG02165.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp1 NA18959.hp2 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0121 a0001c0001t0001g0152 a0001c0001t0001g0268 a0001c0001t0001g0313 a0001c0001t0002g0021 a0001c0001t0002g0260	10	424	0.0236	25	c.50 others(36): Show c.5019_*5020insCTCTTCTCTTCTCTTCTCTTCTCTT		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding					4739		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46839286	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	424	0.0024	25	c.267 others(40): Show c.267+154_267+178dupTTTTTTTTTTTTTTTTTTTTTTTTT		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4						chr19	TogoVar
AP3B1_chr5_77997326_78299698	78279907	A A	AATATATA others(18): Show AATATATATATATGACTTAAATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02723.hp1 HG02683.hp2 HG02723.hp1	a0001 a0007 a0001 a0007	a0001c0006 a0007c0014 a0001c0006 a0007c0014	a0001c0006t0001 a0007c0014t0002 a0001c0006t0001 a0007c0014t0002	a0001c0006t0001g0223 a0007c0014t0002g0196 a0001c0006t0001g0223 a0007c0014t0002g0196	2	226	0.0089	25	c.129 others(44): Show c.129-12313_129-12312insATATATTTAAGTCATATATATATAT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26						chr5	TogoVar
AP3M1_chr10_74115255_74155828	74149267	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0215 a0001c0001t0019g0215	1	334	0.0030	25	c.-4+ others(40): Show c.-4+1463_-4+1487dupAAAAAAAAAAAAAAAAAAAAAAAAA		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8						chr10	TogoVar
AP3S1_chr5_115836935_115919081	115848152	C C	CTTTAGCA others(18): Show CTTTAGCAAAGTTGTTTTCAATTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG01496.hp1 others(12): Show HG00735.hp1 HG01358.hp1 HG01496.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03579.hp1 HG04115.hp1 HG06807.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0210 others(12): Show a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0005g0216	15	378	0.0397	25	c.69+ others(40): Show c.69+6047_69+6071dupTTTAGCAAAGTTGTTTTCAATTTTA		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0357 a0001c0001t0005g0338 a0001c0001t0004g0357 a0001c0001t0005g0338	2	392	0.0051	25	c.185 others(44): Show c.1851+4098_1851+4122dupAAAAAAAAAAAAAAAAAAAAAAAAA		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	346	0.0029	25	c.-71 others(44): Show c.-71-16697_-71-16696insAAAAAAAAATATATATATATATATA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0229 a0001c0001t0049g0229	1	346	0.0029	25	c.306 others(42): Show c.306+2914_306+2938dupTTTTTTTTTTTTTTTTTTTTTTTTT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0026 a0004c0005t0026	a0004c0005t0026g0098 a0004c0005t0026g0098	1	280	0.0036	25	c.11 others(38): Show c.11834_*11835insTTTTTTTTTTTTTTTTTTTTTTTTT		AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding					1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	412	0.0024	25	c.73 others(36): Show c.7382_*7383insTATATATATATATATTTTTTTTTTT		AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding					2842		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4779378	C C	CATATAAC others(18): Show CATATAACATGATTATTATATATCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02723.hp1 others(1): Show HG01109.hp1 HG02055.hp2 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0002 a0001c0001t0006 a0001c0025t0006 a0001c0001t0002 a0001c0001t0006 a0001c0025t0006	a0001c0001t0002g0009 a0001c0001t0006g0009 a0001c0025t0006g0009 a0001c0001t0002g0009 a0001c0001t0006g0009 a0001c0025t0006g0009	4	340	0.0118	25	c.42- others(40): Show c.42-1784_42-1760dupTATTATATATCATATATAACATGAT		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4789432	G G	GCCCCCCA others(18): Show GCCCCCCATCTCCCCCATTGCTGCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	340	0.0029	25	c.170 others(42): Show c.1708-396_1708-372dupCCCATCTCCCCCATTGCTGCTTCCC		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	366	0.0027	25	c.526 others(42): Show c.526+4008_526+4009insAAATATATATATATATATATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	366	0.0027	25	c.526 others(42): Show c.526+4008_526+4009insATATATATATATATATATATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	366	0.0027	25	c.526 others(42): Show c.526+4007_526+4008insTATATATATATATATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26						chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	366	0.0027	25	c.956 others(40): Show c.956-274_956-273insATATATATATATATATATATATATT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTCC others(18): Show CTCCCTCCCTCCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0035 a0002c0014t0035	a0002c0014t0035g0191 a0002c0014t0035g0191	1	204	0.0049	25	c.951 others(42): Show c.951+1778_951+1779insCTCCCTCCCTTCCTTCCTTCCTTCC		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG03540.hp1 HG02572.hp2 HG03471.hp2 HG03540.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0002 a0001c0001t0001 a0007c0007t0002	a0001c0001t0001g0104 a0001c0001t0001g0240 a0007c0007t0002g0309 a0001c0001t0001g0104 a0001c0001t0001g0240 a0007c0007t0002g0309	3	358	0.0084	25	c.813 others(42): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAAAAAA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG06807.hp1 HG02074.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0139 a0001c0001t0008g0336 a0001c0001t0001g0139 a0001c0001t0008g0336	2	358	0.0056	25	c.814 others(42): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTTTTTT		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02148.hp1 others(4): Show HG00735.hp1 HG01433.hp1 HG02148.hp1 HG02451.hp2 HG03041.hp2 NA18960.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0002 a0001c0001t0001 a0001c0001t0002 a0004c0005t0002	a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0077 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0002g0268 a0004c0005t0002g0298	7	358	0.0196	25	c.814 others(42): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTTTTT		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)