Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
ALDH16A1_chr19_49448225_49476050	49452302	CAGATCTA others(20): Show CAGATCTAGACCCGCCAGGTCTAGATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02922.hp2 NA18957.hp1 HG00741.hp2 HG02922.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0086 a0001c0005t0002g0146 a0001c0001t0001g0001 a0001c0001t0001g0086 a0001c0005t0002g0146	3	342	0.0088	-27	c.-10 others(38): Show c.-1029_-1003delAGATCTAGACCCGCCAGGTCTAGATCT		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding					922		chr19	TogoVar
ALDH1A1_chr9_72895671_72958053	72908536	AAAGAAAG others(20): Show AAAGAAAGAAAAGAAAGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG04204.hp1 NA19091.hp2 others(1): Show HG01975.hp2 HG04204.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0005g0289 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0005g0289 a0001c0002t0001g0211	4	306	0.0131	-27	c.135 others(46): Show c.1358+1039_1358+1065delCTTTCTTTCTTCTTTCTTTTCTTTCT T		ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12						chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908540	AAAGAAAA others(20): Show AAAGAAAAGAAAGAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03831.hp1 NA18964.hp1 others(4): Show HG01168.hp2 HG03831.hp1 NA18964.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0002t0001g0059 a0001c0002t0001g0261	7	306	0.0229	-27	c.135 others(46): Show c.1358+1035_1358+1061delCTTTCTTTCTTTCTTCTTTCTTTTCT T		ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12						chr9	TogoVar
ALDH1L1_chr3_126098570_126185586	126158082	CCTGGTGC others(20): Show CCTGGTGCCCTCTCTGTCCCTGCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0133 a0010c0012t0001g0133	1	338	0.0030	-27	c.362 others(42): Show c.362+296_362+322delAAGGCGCAGGGACAGAGAGGGCACCAG		ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	3/22						chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105059267	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00642.hp2 others(35): Show HG00597.hp1 HG00639.hp1 HG00642.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG02055.hp1 HG02083.hp1 HG02165.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG03098.hp2 HG03491.hp2 HG03688.hp1 HG03710.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18953.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18994.hp2 NA19003.hp2 NA19030.hp1 NA19057.hp2 NA19074.hp2 NA19078.hp1 NA19083.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0003t0006 a0006c0009t0001	a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 others(35): Show a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0003g0203 a0001c0001t0003g0347 a0001c0001t0003g0381 a0001c0001t0004g0379 a0001c0001t0004g0383 a0001c0001t0006g0031 a0001c0001t0006g0160 a0001c0001t0006g0217 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0353 a0001c0001t0006g0354 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0346 a0001c0002t0002g0373 a0001c0002t0010g0352 a0001c0002t0016g0125 a0001c0002t0021g0374 a0001c0003t0006g0376 a0001c0003t0006g0377 a0001c0003t0006g0378 a0001c0003t0006g0380 a0001c0003t0006g0382 a0001c0003t0006g0384 a0006c0009t0001g0231 a0006c0009t0001g0232	38	386	0.0985	-27	c.114 others(46): Show c.1140-1074_1140-1048delATTATTATTATTATTATTATTATTAT T		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	9/22						chr12	TogoVar
ALOX5_chr10_45369216_45451117	45416817	GGATGGAT others(20): Show GGATGGATGGATGGATGACAGATAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG03098.hp1 others(2): Show HG01192.hp1 HG01243.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0002c0005t0003 a0001c0001t0001 a0001c0004t0001 a0002c0005t0003	a0001c0001t0001g0165 a0001c0004t0001g0037 a0001c0004t0001g0038 others(2): Show a0001c0001t0001g0165 a0001c0004t0001g0037 a0001c0004t0001g0038 a0002c0005t0003g0039 a0002c0005t0003g0040	5	345	0.0145	-27	c.554 others(44): Show c.554+4520_554+4546delGACAGATAGTGAGATGGATGGATGGAT		ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107938	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18943.hp2 HG02976.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0351 a0001c0002t0001g0210 a0001c0001t0005g0351 a0001c0002t0001g0210	2	422	0.0047	-27	c.168 others(44): Show c.1684+503_1684+529delCTTCCTTTCTTTCTTTCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107951	AAGAAAGA others(20): Show AAGAAAGAAAGGAAGGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03834.hp1 HG02040.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0117 a0001c0002t0001g0120 a0001c0001t0001g0117 a0001c0002t0001g0120	2	422	0.0047	-27	c.168 others(44): Show c.1684+490_1684+516delCTCTCTCTCTCTCCTTCCTTTCTTTCT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALPK2_chr18_58476247_58634091	58550851	AACATACA others(20): Show AACATACAACCCCATCCCCACCTCCATC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18945.hp2 NA19005.hp2 HG02015.hp1 NA18945.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0185 a0002c0002t0001g0232 a0002c0002t0004g0121 a0002c0002t0001g0185 a0002c0002t0001g0232 a0002c0002t0004g0121	3	320	0.0094	-27	c.196 others(48): Show c.1963-12654_1963-12628delGATGGAGGTGGGGATGGGGTTGTA TGT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
AMIGO1_chr1_109499178_109514727	109511252	AAAAAAAG others(20): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02572.hp2 HG02886.hp1 others(1): Show HG01346.hp1 HG02572.hp2 HG02886.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	4	400	0.0100	-27	c.-19 others(38): Show c.-1947_-1921delCTTTCTTTCTTTCTTTCTTTCTTTTTT		AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding					1526		chr1	TogoVar
AMOT_chrX_112769877_112845831	112779389	GCTGGAGC others(20): Show GCTGGAGCAGCAGCAGCAGCAACAGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 HG01069.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0005 a0003c0006t0001g0192 a0003c0006t0001g0005 a0003c0006t0001g0192	3	270	0.0111	-27	c.273 others(36): Show c.2738_2764delTTGCTGTTGCTGCTGCTGCTGCTCCAG	p.Val others(13): Show p.Val913_Pro921del	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	13/14	3432/7613	2738/3255	913/1084			chrX	TogoVar
AMPH_chr7_38378704_38636373	38610299	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0134 a0002c0008t0002g0134	1	288	0.0035	-27	c.69+ others(44): Show c.69+20957_69+20983delCTTTTCTTTTCTTTTCTTTTCTTTTCT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
ANGPT1_chr8_107244482_107502918	107370376	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0251 a0001c0001t0018g0251	1	292	0.0034	-27	c.298 others(46): Show c.298-23306_298-23280delTTTCTTTCTTTCTTTCTTTCTTTCTT T		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505212	TATATATA others(20): Show TATATATATATTCTTATGTATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp1 others(49): Show HG00099.hp2 HG00438.hp1 HG00639.hp1 HG00735.hp1 HG01167.hp1 HG01261.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 NA18522.hp2 NA18950.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18997.hp2 NA19043.hp1 NA19055.hp1 NA19070.hp1 NA19079.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0025 a0001c0034 a0006c0027	a0001c0001t0054 a0001c0002t0070 a0001c0002t0071 others(29): Show a0001c0001t0054 a0001c0002t0070 a0001c0002t0071 a0001c0002t0076 a0001c0003t0075 a0001c0006t0003 a0001c0006t0005 a0001c0006t0009 a0001c0006t0024 a0001c0006t0032 a0001c0006t0052 a0001c0006t0053 a0001c0006t0077 a0001c0009t0057 a0001c0009t0073 a0001c0010t0006 a0001c0010t0016 a0001c0010t0064 a0001c0011t0017 a0001c0011t0033 a0001c0013t0059 a0001c0014t0003 a0001c0014t0005 a0001c0015t0030 a0001c0015t0038 a0001c0015t0065 a0001c0016t0028 a0001c0016t0068 a0001c0019t0044 a0001c0025t0028 a0001c0034t0058 a0006c0027t0026	a0001c0001t0054g0178 a0001c0002t0070g0296 a0001c0002t0071g0284 others(49): Show a0001c0001t0054g0178 a0001c0002t0070g0296 a0001c0002t0071g0284 a0001c0002t0076g0332 a0001c0003t0075g0326 a0001c0006t0003g0053 a0001c0006t0003g0065 a0001c0006t0003g0104 a0001c0006t0003g0127 a0001c0006t0003g0135 a0001c0006t0003g0200 a0001c0006t0003g0220 a0001c0006t0003g0221 a0001c0006t0003g0227 a0001c0006t0005g0253 a0001c0006t0005g0265 a0001c0006t0005g0277 a0001c0006t0009g0015 a0001c0006t0009g0024 a0001c0006t0009g0029 a0001c0006t0024g0174 a0001c0006t0024g0218 a0001c0006t0032g0023 a0001c0006t0052g0128 a0001c0006t0053g0156 a0001c0006t0077g0335 a0001c0009t0057g0280 a0001c0009t0073g0328 a0001c0010t0006g0302 a0001c0010t0006g0316 a0001c0010t0016g0050 a0001c0010t0016g0051 a0001c0010t0016g0064 a0001c0010t0064g0310 a0001c0011t0017g0098 a0001c0011t0017g0126 a0001c0011t0017g0190 a0001c0011t0033g0008 a0001c0013t0059g0291 a0001c0014t0003g0177 a0001c0014t0005g0278 a0001c0014t0005g0279 a0001c0014t0005g0288 a0001c0015t0030g0007 a0001c0015t0038g0229 a0001c0015t0065g0293 a0001c0016t0028g0250 a0001c0016t0068g0248 a0001c0019t0044g0077 a0001c0025t0028g0286 a0001c0034t0058g0318 a0006c0027t0026g0290	52	336	0.1548	-27	c.132 others(46): Show c.1328-1978_1328-1952delTCTATATATACATAAGAATATATATA T		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505949	ATGTATAT others(20): Show ATGTATATATAAAAACATACATATTCTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	336	0.0030	-27	c.132 others(46): Show c.1328-2715_1328-2689delAAGAATATGTATGTTTTTATATATAC A		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8						chr8	TogoVar
ANK3_chr10_60021298_60394875	60226490	CATATACT others(20): Show CATATACTATAGTATATATACATAGTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp2 HG02258.hp1 others(7): Show HG00408.hp1 HG02080.hp2 HG02258.hp1 HG02486.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 NA18964.hp2 NA18999.hp2 NA19240.hp1	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0001c0016 a0001c0035 others(6): Show a0001c0001 a0001c0016 a0001c0035 a0001c0036 a0001c0037 a0001c0041 a0001c0043 a0003c0009 a0023c0042	a0001c0001t0002 a0001c0016t0002 a0001c0035t0002 others(7): Show a0001c0001t0002 a0001c0016t0002 a0001c0035t0002 a0001c0036t0001 a0001c0037t0002 a0001c0041t0004 a0001c0043t0015 a0003c0009t0004 a0003c0009t0052 a0023c0042t0002	a0001c0001t0002g0135 a0001c0016t0002g0182 a0001c0035t0002g0066 others(7): Show a0001c0001t0002g0135 a0001c0016t0002g0182 a0001c0035t0002g0066 a0001c0036t0001g0123 a0001c0037t0002g0122 a0001c0041t0004g0184 a0001c0043t0015g0187 a0003c0009t0004g0186 a0003c0009t0052g0185 a0023c0042t0002g0069	10	192	0.0521	-27	c.897 others(44): Show c.897+8171_897+8197delATACTATGTATATATACTATAGTATAT		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43						chr10	TogoVar
ANKFY1_chr17_4158821_4268979	4160168	TCAGCTCC others(20): Show TCAGCTCCGTACCCCTATATCCACGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	300	0.0033	-27	c.75 others(38): Show c.7584_*7610delGGTCGTGGATATAGGGGTACGGAGCTG		ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding					3652		chr17	TogoVar
ANKMY1_chr2_240474422_240562988	240547528	GAAATAGA others(20): Show GAAATAGAGACACAAAAAACCCTTCAAA	G G	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	320	0.0031	-27	c.480 others(44): Show c.480+5359_480+5385delTTTGAAGGGTTTTTTGTGTCTCTATTT		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	4/17						chr2	TogoVar
ANKRD11_chr16_89262630_89495561	89299508	GTGGGGTC others(20): Show GTGGGGTCTGTGCCCTGTGTGGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02723.hp1 others(1): Show HG00639.hp2 HG02451.hp1 HG02723.hp1 HG03486.hp2	a0003 a0010 a0003 a0010	a0003c0017 a0010c0029 a0010c0037 a0003c0017 a0010c0029 a0010c0037	a0003c0017t0003 a0010c0029t0001 a0010c0037t0001 a0003c0017t0003 a0010c0029t0001 a0010c0037t0001	a0003c0017t0003g0028 a0003c0017t0003g0199 a0010c0029t0001g0136 others(1): Show a0003c0017t0003g0028 a0003c0017t0003g0199 a0010c0029t0001g0136 a0010c0037t0001g0141	4	310	0.0129	-27	c.226 others(44): Show c.226+5671_226+5697delAGCACCCCACACAGGGCACAGACCCCA		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89299867	TGTGGGGT others(20): Show TGTGGGGTCTGTACCCTGTGTGGGGTGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	310	0.0032	-27	c.226 others(44): Show c.226+5312_226+5338delGCACCCCACACAGGGTACAGACCCCAC		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12						chr16	TogoVar
ANKRD13C_chr1_70253999_70359722	70339812	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02735.hp2 others(1): Show HG02622.hp2 HG02723.hp1 HG02735.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0003g0306 others(1): Show a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0003g0306 a0001c0001t0005g0252	4	352	0.0114	-27	c.431 others(44): Show c.431-3740_431-3714delTAATAATAATAATAATAATAATAATAA		ANKRD13C	ENSG00000118454.13	transcript	ENST00000370944.9	protein_coding	1/12						chr1	TogoVar
ANKRD17_chr4_73068376_73263798	73086931	TATATATA others(20): Show TATATATATATATATATATATATCTGTA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18992.hp1 NA18998.hp1 others(1): Show NA18964.hp2 NA18992.hp1 NA18998.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0002 a0001c0016t0002 a0001c0002t0002 a0001c0016t0002	a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0109 others(1): Show a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0016t0002g0114	4	292	0.0137	-27	c.696 others(46): Show c.6962-1512_6962-1486delTACAGATATATATATATATATATATA T		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33						chr4	TogoVar
ANKRD24_chr19_4177689_4229814	4192941	ATAAATAA others(20): Show ATAAATAAATAAAAATAAAAAATGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0308 a0003c0003t0002g0308	1	356	0.0028	-27	c.36+ others(42): Show c.36+6485_36+6511delTAAATAAAAATAAAAAATGAGAGTAAA		ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4228709	CTGTCGTC others(20): Show CTGTCGTCTCCCTGTCTCTCTATCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(64): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp2 NA18522.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA18982.hp1 NA18987.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0015 a0023 a0026 a0027 a0028 a0034	a0001c0002 a0002c0001 a0003c0003 others(12): Show a0001c0002 a0002c0001 a0003c0003 a0003c0009 a0003c0015 a0004c0005 a0006c0007 a0008c0008 a0010c0013 a0015c0025 a0023c0044 a0026c0047 a0027c0050 a0028c0051 a0034c0034	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(21): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0009t0001 a0003c0009t0002 a0003c0015t0001 a0003c0015t0002 a0004c0005t0001 a0006c0007t0001 a0008c0008t0001 a0008c0008t0002 a0008c0008t0004 a0010c0013t0001 a0015c0025t0001 a0015c0025t0002 a0023c0044t0001 a0026c0047t0001 a0027c0050t0001 a0028c0051t0001 a0034c0034t0001	a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0242 others(64): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0002g0271 a0002c0001t0001g0054 a0002c0001t0002g0281 a0003c0003t0001g0055 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0073 a0003c0003t0001g0076 a0003c0003t0001g0081 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0103 a0003c0003t0001g0111 a0003c0003t0001g0120 a0003c0003t0001g0129 a0003c0003t0001g0134 a0003c0003t0001g0146 a0003c0003t0001g0163 a0003c0003t0001g0167 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0194 a0003c0003t0001g0203 a0003c0003t0001g0214 a0003c0003t0001g0218 a0003c0003t0001g0227 a0003c0003t0001g0233 a0003c0003t0001g0245 a0003c0003t0002g0094 a0003c0003t0002g0265 a0003c0003t0002g0268 a0003c0003t0002g0284 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0317 a0003c0003t0002g0328 a0003c0003t0002g0330 a0003c0003t0002g0335 a0003c0003t0002g0345 a0003c0003t0004g0253 a0003c0009t0001g0014 a0003c0009t0002g0277 a0003c0009t0002g0320 a0003c0009t0002g0344 a0003c0009t0002g0347 a0003c0009t0002g0348 a0003c0015t0001g0008 a0003c0015t0001g0152 a0003c0015t0001g0195 a0003c0015t0002g0299 a0004c0005t0001g0240 a0006c0007t0001g0102 a0008c0008t0001g0130 a0008c0008t0002g0262 a0008c0008t0004g0252 a0010c0013t0001g0109 a0010c0013t0001g0115 a0015c0025t0001g0107 a0015c0025t0002g0235 a0023c0044t0001g0112 a0026c0047t0001g0182 a0027c0050t0001g0161 a0028c0051t0001g0145 a0034c0034t0001g0110	67	356	0.1882	-27	c.42 others(38): Show c.4205_*4231delTGTCGTCTCCCTGTCTCTCTATCTCTT		ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding					3896		chr19	TogoVar
ANKRD28_chr3_15662236_15802979	15767700	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp1 others(84): Show HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp1 HG02683.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0044 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0044 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0022 a0001c0002t0038 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0045 a0001c0002t0047 a0001c0002t0049 a0002c0006t0001	a0001c0001t0001g0166 a0001c0001t0044g0178 a0001c0002t0001g0112 others(84): Show a0001c0001t0001g0166 a0001c0001t0044g0178 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0007g0174 a0001c0002t0007g0175 a0001c0002t0007g0176 a0001c0002t0007g0177 a0001c0002t0007g0179 a0001c0002t0007g0182 a0001c0002t0007g0184 a0001c0002t0011g0235 a0001c0002t0022g0002 a0001c0002t0038g0106 a0001c0002t0040g0108 a0001c0002t0041g0169 a0001c0002t0043g0122 a0001c0002t0045g0161 a0001c0002t0047g0189 a0001c0002t0049g0229 a0002c0006t0001g0135 a0002c0006t0001g0203	87	340	0.2559	-27	c.202 others(44): Show c.202-1415_202-1389delTTTTTTTTTTTTTTTTTTTTTTTTTTT		ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	2/27						chr3	TogoVar
ANKRD30B_chr18_14743172_14859667	14859640	AGGCGCTC others(20): Show AGGCGCTCTTCACTTCCCAGAGGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	316	0.0032	-27	c.54 others(38): Show c.5483_*5509delGGCGCTCTTCACTTCCCAGAGGGGGTG		ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding					4974		chr18	TogoVar
ANKRD40_chr17_50688198_50712914	50709399	ACCATGTT others(20): Show ACCATGTTGGCCAGTCTGGTCTCCAGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-27	c.-17 others(38): Show c.-1772_-1746delAGCTGGAGACCAGACTGGCCAACATGG		ANKRD40	ENSG00000154945.7	transcript	ENST00000285243.7	protein_coding					1486		chr17	TogoVar
ANKUB1_chr3_149756100_149797554	149766817	AAGCAGCA others(20): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG01243.hp1 others(20): Show HG00099.hp2 HG01169.hp1 HG01243.hp1 HG02280.hp2 HG02647.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03834.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp1 NA18984.hp1 NA19030.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0003 a0001c0007 a0002c0002 others(4): Show a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0004c0008 a0004c0018 a0013c0023	a0001c0003t0004 a0001c0003t0006 a0001c0007t0001 others(10): Show a0001c0003t0004 a0001c0003t0006 a0001c0007t0001 a0001c0007t0004 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0007 a0002c0005t0008 a0004c0008t0001 a0004c0008t0004 a0004c0018t0001 a0013c0023t0004	a0001c0003t0004g0261 a0001c0003t0006g0304 a0001c0007t0001g0246 others(18): Show a0001c0003t0004g0261 a0001c0003t0006g0304 a0001c0007t0001g0246 a0001c0007t0004g0250 a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0002g0286 a0002c0002t0002g0299 a0002c0002t0002g0308 a0002c0005t0001g0028 a0002c0005t0001g0187 a0002c0005t0001g0263 a0002c0005t0007g0039 a0002c0005t0008g0309 a0004c0008t0001g0129 a0004c0008t0004g0128 a0004c0008t0004g0164 a0004c0008t0004g0170 a0004c0008t0004g0209 a0004c0018t0001g0257 a0013c0023t0004g0176	23	372	0.0618	-27	c.150 others(44): Show c.1505+313_1505+339delGCTGCTGCTGCTGCTGCTGCTGCTGCT		ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/5						chr3	TogoVar
ANO2_chr12_5557655_5950259	5868848	GCGGCTCT others(20): Show GCGGCTCTGCAAACAGCACCAGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(16): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0006c0012t0001 a0006c0012t0002	a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0053 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0106 a0001c0001t0002g0140 a0001c0001t0002g0149 a0001c0001t0003g0004 a0001c0005t0001g0003 a0001c0005t0001g0070 a0001c0005t0002g0134 a0001c0005t0002g0148 a0001c0005t0006g0130 a0001c0005t0006g0131 a0002c0003t0002g0155 a0002c0003t0003g0107 a0002c0003t0007g0142 a0006c0012t0001g0056 a0006c0012t0002g0146	19	162	0.1173	-27	c.535 others(46): Show c.535-14734_535-14708delTCCTCTCTGGTGCTGTTTGCAGAGCC G		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24						chr12	TogoVar
ANO3_chr11_26327130_26668289	26365969	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02922.hp2 HG02965.hp1 others(2): Show HG00738.hp2 HG02922.hp2 HG02965.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0008 a0001c0006 a0001c0007 a0001c0008	a0001c0006t0006 a0001c0007t0001 a0001c0008t0009 a0001c0006t0006 a0001c0007t0001 a0001c0008t0009	a0001c0006t0006g0065 a0001c0007t0001g0011 a0001c0008t0009g0151 others(2): Show a0001c0006t0006g0065 a0001c0007t0001g0011 a0001c0008t0009g0151 a0001c0008t0009g0171 a0001c0008t0009g0172	5	190	0.0263	-27	c.46+ others(44): Show c.46+33649_46+33675delATATATATATATATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26						chr11	TogoVar
ANO3_chr11_26327130_26668289	26365971	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01168.hp1 others(10): Show HG00738.hp1 HG01070.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG02083.hp2 HG03239.hp1 NA18990.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0016	a0001c0001t0001 a0001c0002t0008 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0002t0008 a0001c0003t0002 a0001c0004t0003 a0001c0005t0005 a0001c0006t0010 a0001c0006t0012 a0002c0016t0004	a0001c0001t0001g0040 a0001c0002t0008g0178 a0001c0003t0002g0036 others(10): Show a0001c0001t0001g0040 a0001c0002t0008g0178 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0004t0003g0017 a0001c0004t0003g0124 a0001c0004t0003g0166 a0001c0004t0003g0168 a0001c0004t0003g0189 a0001c0005t0005g0170 a0001c0006t0010g0179 a0001c0006t0012g0180 a0002c0016t0004g0053	13	190	0.0684	-27	c.46+ others(44): Show c.46+33651_46+33677delATATATATATATATATATATATATATA		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26						chr11	TogoVar
ANO3_chr11_26327130_26668289	26556374	CTCAATAC others(20): Show CTCAATACCCAGTATGAACCTCAGACTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00639.hp2 others(34): Show HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 NA18612.hp1 NA18747.hp1 NA18955.hp2 NA18963.hp2 NA19084.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(3): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0015	a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 others(9): Show a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0021 a0001c0005t0005 a0001c0005t0006 a0001c0005t0026 a0001c0006t0006 a0001c0007t0001 a0001c0007t0003 a0001c0009t0004 a0001c0015t0001	a0001c0003t0002g0003 a0001c0003t0002g0044 a0001c0003t0002g0045 others(34): Show a0001c0003t0002g0003 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0055 a0001c0003t0002g0057 a0001c0003t0002g0106 a0001c0003t0002g0158 a0001c0003t0002g0174 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0007g0186 a0001c0003t0008g0010 a0001c0003t0008g0074 a0001c0003t0008g0111 a0001c0003t0008g0156 a0001c0003t0008g0159 a0001c0003t0021g0007 a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0019 a0001c0005t0005g0034 a0001c0005t0005g0041 a0001c0005t0005g0170 a0001c0005t0006g0085 a0001c0005t0006g0109 a0001c0005t0006g0144 a0001c0005t0026g0161 a0001c0006t0006g0135 a0001c0007t0001g0026 a0001c0007t0001g0190 a0001c0007t0003g0061 a0001c0007t0003g0148 a0001c0009t0004g0035 a0001c0009t0004g0038 a0001c0015t0001g0163	37	190	0.1947	-27	c.138 others(46): Show c.1386+3031_1386+3057delCAATACCCAGTATGAACCTCAGACTG T		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO9_chr11_412938_447011	433541	ACCTCAGA others(20): Show ACCTCAGAACCCTCCCCCCTCTATTCCG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18971.hp1 NA20805.hp2 HG01981.hp1 NA18971.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123	3	286	0.0105	-27	c.205 others(41): Show c.205-109_205-83delCGGAATAGAGGGGGGAGGGTTCTGAGG		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	3/22						chr11	TogoVar
ANTXR2_chr4_79896146_80078229	79934192	AATAGGAT others(20): Show AATAGGATGACAGGAATTGTCAAGAATG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	268	0.0037	-27	c.142 others(48): Show c.1429-26752_1429-26726delCATTCTTGACAATTCCTGTCATCC TAT		ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16						chr4	TogoVar
ANXA2_chr15_60342151_60402986	60366816	GTCGGCCA others(20): Show GTCGGCCAGCCGCCCCGTCCGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	334	0.0030	-27	c.149 others(44): Show c.149-2320_149-2294delTCCCTCCCGGACGGGGCGGCTGGCCGA		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12						chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399010	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGTTTCTTGCAGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	334	0.0030	-27	c.-11 others(38): Show c.-1106_-1080delGTGCTGCAAGAAACTCTCTCTCTCTCT		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding					1025		chr15	TogoVar
ANXA8L1_chr10_46370776_46396778	46373113	CATAAGCA others(20): Show CATAAGCAGGCATTTTCCAGAAAAAAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	390	0.0026	-27	c.-27 others(38): Show c.-2738_-2712delATAAGCAGGCATTTTCCAGAAAAAAGG		ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding					2662		chr10	TogoVar
AOPEP_chr9_94721699_95092159	94743193	AGAAGAAG others(20): Show AGAAGAAGAGGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp2 HG01258.hp1 others(10): Show HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01978.hp2 HG02486.hp1 HG03491.hp1 HG03492.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA19079.hp1 NA19085.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(10): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0009c0010t0001g0144 a0009c0010t0001g0145	13	182	0.0714	-27	c.-13 others(48): Show c.-135-16447_-135-16421delGGAAGAAGAGGAAGAAGAGGAAGA AGA		AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr9	TogoVar
AP4E1_chr15_50903683_51010895	50990635	CTCAGCGT others(20): Show CTCAGCGTCAGTGCTGGCATTACAGGTG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18946.hp2 NA18978.hp1 NA18942.hp2 NA18946.hp2 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0052 a0002c0002t0002g0070 a0002c0002t0002g0013 a0002c0002t0002g0052 a0002c0002t0002g0070	3	392	0.0077	-27	c.209 others(46): Show c.2091-2733_2091-2707delCAGCGTCAGTGCTGGCATTACAGGTG T		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40982360	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0035 a0002c0001t0002g0035	1	192	0.0052	-27	c.835 others(46): Show c.835+31196_835+31222delCCTTCCTTCCTTCCTTCCTTCCTTCC T		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	AAGGAGGA others(20): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02486.hp1 others(4): Show HG01891.hp2 HG02258.hp2 HG02486.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0009 a0002c0001t0003 a0002c0001t0024 others(4): Show a0001c0003t0009 a0002c0001t0003 a0002c0001t0024 a0002c0001t0033 a0002c0001t0056 a0002c0001t0060 a0002c0005t0023	a0001c0003t0009g0162 a0002c0001t0003g0027 a0002c0001t0024g0013 others(4): Show a0001c0003t0009g0162 a0002c0001t0003g0027 a0002c0001t0024g0013 a0002c0001t0033g0014 a0002c0001t0056g0157 a0002c0001t0060g0158 a0002c0005t0023g0165	7	192	0.0365	-27	c.-41 others(48): Show c.-416-16792_-416-16766delCCTCCTCCTCCTCCTCCTCCTCCT CCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17						chr4	TogoVar
APC_chr5_112732885_112851239	112768430	TATTCAGT others(20): Show TATTCAGTAACTACTAGATTCAGTAAAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	294	0.0034	-27	c.422 others(44): Show c.422+1041_422+1067delATTCAGTAACTACTAGATTCAGTAAAA		APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	4/15						chr5	TogoVar
APOBR_chr16_28489643_28503964	28495952	TCTCAGGC others(20): Show TCTCAGGCGGGGAGGAGGCTGAGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02486.hp1 HG02572.hp2 others(2): Show HG02055.hp2 HG02486.hp1 HG02572.hp2 NA18906.hp2 NA20129.hp2	a0019 a0020 a0039 others(1): Show a0019 a0020 a0039 a0040	a0019c0019 a0020c0026 a0039c0027 others(1): Show a0019c0019 a0020c0026 a0039c0027 a0040c0028	a0019c0019t0001 a0020c0026t0001 a0039c0027t0002 others(1): Show a0019c0019t0001 a0020c0026t0001 a0039c0027t0002 a0040c0028t0002	a0019c0019t0001g0001 a0020c0026t0001g0001 a0039c0027t0002g0001 others(1): Show a0019c0019t0001g0001 a0020c0026t0001g0001 a0039c0027t0002g0001 a0040c0028t0002g0001	5	406	0.0123	-27	c.933 others(34): Show c.933_959delGACAGCCTCAGGCGGGGAGGAGGCTGA	p.Thr others(13): Show p.Thr312_Glu320del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	972/3792	933/3294	311/1097		INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28495974	GACAGCCT others(20): Show GACAGCCTCAGGCGGGGAGGAGGCTGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18961.hp2 NA18962.hp1 NA18963.hp1 others(13): Show NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18973.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19070.hp2 NA19082.hp1 NA19086.hp2 NA19091.hp1	a0006 a0016 a0020 others(1): Show a0006 a0016 a0020 a0022	a0006c0008 a0006c0030 a0016c0022 others(2): Show a0006c0008 a0006c0030 a0016c0022 a0020c0029 a0022c0059	a0006c0008t0002 a0006c0030t0002 a0016c0022t0001 others(2): Show a0006c0008t0002 a0006c0030t0002 a0016c0022t0001 a0020c0029t0001 a0022c0059t0001	a0006c0008t0002g0001 a0006c0030t0002g0001 a0016c0022t0001g0001 others(3): Show a0006c0008t0002g0001 a0006c0030t0002g0001 a0016c0022t0001g0001 a0016c0022t0001g0003 a0020c0029t0001g0001 a0022c0059t0001g0001	16	406	0.0394	-27	c.957 others(34): Show c.957_983delTGAAACAGCCTCAGGCGGGGAGGAGGC	p.Glu others(13): Show p.Glu320_Ala328del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	996/3792	957/3294	319/1097		INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28496076	TGGGACAG others(20): Show TGGGACAGCCTCAGGAGGGGAGGAGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp2 NA18961.hp2 NA18967.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18987.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0009 others(10): Show a0002 a0003 a0009 a0014 a0015 a0016 a0017 a0024 a0025 a0026 a0027 a0028 a0041	a0002c0002 a0002c0047 a0002c0049 others(15): Show a0002c0002 a0002c0047 a0002c0049 a0002c0051 a0003c0004 a0009c0014 a0009c0020 a0014c0015 a0015c0016 a0016c0022 a0017c0032 a0017c0061 a0024c0052 a0025c0050 a0026c0048 a0027c0053 a0028c0054 a0041c0046	a0002c0002t0001 a0002c0002t0004 a0002c0047t0001 others(16): Show a0002c0002t0001 a0002c0002t0004 a0002c0047t0001 a0002c0049t0001 a0002c0051t0001 a0003c0004t0002 a0009c0014t0002 a0009c0020t0001 a0014c0015t0001 a0015c0016t0001 a0016c0022t0001 a0017c0032t0001 a0017c0061t0002 a0024c0052t0001 a0025c0050t0001 a0026c0048t0001 a0027c0053t0001 a0028c0054t0001 a0041c0046t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0004g0001 others(18): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0004g0001 a0002c0047t0001g0001 a0002c0049t0001g0001 a0002c0051t0001g0001 a0003c0004t0002g0001 a0009c0014t0002g0001 a0009c0020t0001g0001 a0014c0015t0001g0001 a0015c0016t0001g0001 a0016c0022t0001g0001 a0016c0022t0001g0003 a0017c0032t0001g0001 a0017c0061t0002g0001 a0024c0052t0001g0001 a0025c0050t0001g0001 a0026c0048t0001g0001 a0027c0053t0001g0001 a0028c0054t0001g0001 a0041c0046t0001g0001	108	406	0.2660	-27	c.108 others(36): Show c.1083_1109delGGAGGCCGGGACAGCCTCAGGAGGGGA	p.Glu others(13): Show p.Glu361_Gly369del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1122/3792	1083/3294	361/1097		INFO_REALIGN_3_PRIME	chr16	TogoVar
APOO_chrX_23828353_23912938	23829570	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	269	0.0037	-27	c.40 others(38): Show c.4045_*4071delATATATATATATATATATATATATTTT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3782		chrX	TogoVar
ARAP2_chr4_36061004_36249514	36156435	GAAAGAAA others(20): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03942.hp2 NA20805.hp1 HG02683.hp1 HG03942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0127 a0001c0002t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0127 a0001c0002t0001g0044	3	278	0.0108	-27	c.275 others(46): Show c.2752+2268_2752+2294delTCTTTCTTTCTTTCTTTCTCTTTCTT T		ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	15/32						chr4	TogoVar
ARFGEF1_chr8_67192658_67348781	67236364	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	208	0.0048	-27	c.328 others(46): Show c.3289+1952_3289+1978delATATATATATATATATATATATATAT T		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	22/38						chr8	TogoVar
ARFGEF3_chr6_138156939_138349663	138345437	AAAAAAAA others(20): Show AAAAAAAAAAAAAATTATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0052 a0002c0011t0052	a0002c0011t0052g0112 a0002c0011t0052g0112	1	190	0.0053	-27	c.89 others(38): Show c.8952_*8978delAAAAAAAAAAAAATTATATATATATAT		ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding					775		chr6	TogoVar
ARFIP2_chr11_6471519_6486331	6481370	CACGTCGC others(20): Show CACGTCGCAGATTATAAGGGCGGAGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	-27	c.-20 others(36): Show c.-209_-183delCAGCTCCGCCCTTATAATCTGCGACGT		ARFIP2	ENSG00000132254.13	transcript	ENST00000396777.8	protein_coding					40		chr11	TogoVar

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Search Results (Total: 3848 hits)