Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01070.hp2 others(6): Show HG00597.hp1 HG00733.hp1 HG01070.hp2 HG02602.hp2 NA18962.hp1 NA18974.hp1 NA18983.hp1 NA19074.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0105 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0192	9	296	0.0304	32	c.319 others(49): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGGG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64945607	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0314 a0001c0002t0002g0314	1	338	0.0030	32	c.116 others(49): Show c.1161+884_1161+885insATATATATATATATATATATATATATAT ATAT	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953615	C C	CTTCTTCT others(25): Show CTTCTTCTTCTCCTTCTTCTTAGTTCTTCTTAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG02897.hp2 others(4): Show HG01109.hp1 HG02896.hp2 HG02897.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0007 a0001c0002 a0001c0004 a0004c0007	a0001c0002t0002 a0001c0004t0003 a0004c0007t0003 a0001c0002t0002 a0001c0004t0003 a0004c0007t0003	a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0004t0003g0149 others(4): Show a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0004t0003g0149 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0310 a0004c0007t0003g0034	7	338	0.0207	32	c.148 others(51): Show c.1484-3478_1484-3477insCCTTCTTCTTAGTTCTTCTTAGTTCT TCTTCT	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKH_chr5_14699800_14876778	14792993	T T	TATATATA others(25): Show TATATATATATAAAAAAAAATATATATATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0133 a0001c0001t0047g0133	1	232	0.0043	32	c.97- others(49): Show c.97-23803_97-23802insTTATATATATATATTTTTTTTTATATAT ATAT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKH_chr5_14699800_14876778	14792993	T T	TATATATA others(25): Show TATATATATATAAAAAAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	232	0.0043	32	c.97- others(49): Show c.97-23803_97-23802insTTATATATATATATATTTTTTTATATAT ATAT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKH_chr5_14699800_14876778	14793023	T T	TAAAAATA others(25): Show TAAAAATATATATATAAAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0232 a0001c0004t0025g0232	1	232	0.0043	32	c.97- others(49): Show c.97-23833_97-23832insTTATATATATATATTTTTATATATATAT TTTT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0162 a0001c0003t0002g0162	1	314	0.0032	32	c.486 others(49): Show c.486+2287_486+2288insAAAAAAAAAAAAAATATATATATATATA TATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19043.hp1 NA18966.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0163 a0001c0003t0002g0249 a0001c0003t0002g0163 a0001c0003t0002g0249	2	314	0.0064	32	c.486 others(49): Show c.486+2287_486+2288insAAAAAAAAAAAATATATATATATATATA TATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03453.hp2 others(1): Show HG02572.hp2 HG02922.hp1 HG03453.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0241 a0001c0001t0001g0243 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0272	4	362	0.0111	32	c.691 others(47): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89293383	C C	CAGGGAGG others(25): Show CAGGGAGGAGCTGGGGCAGAGTTGGGGTTGCGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp1 NA20129.hp2 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0124 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0124	3	310	0.0097	32	c.227 others(49): Show c.227-2232_227-2201dupCCGCAACCCCAACTCTGCCCCAGCTCCT CCCT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89384879	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	310	0.0032	32	c.-60 others(51): Show c.-60+33404_-60+33405insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01074.hp1 others(3): Show HG00544.hp2 HG00642.hp1 HG01074.hp1 HG01346.hp2 NA18990.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0025 others(1): Show a0001c0001 a0002c0002 a0003c0025 a0005c0005	a0001c0001t0001 a0002c0002t0002 a0003c0025t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0025t0001 a0005c0005t0001	a0001c0001t0001g0238 a0001c0001t0001g0310 a0002c0002t0002g0227 others(3): Show a0001c0001t0001g0238 a0001c0001t0001g0310 a0002c0002t0002g0227 a0002c0002t0002g0241 a0003c0025t0001g0179 a0005c0005t0001g0174	6	310	0.0194	32	c.-60 others(49): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9157585	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0160 a0002c0002t0032g0160	1	318	0.0031	32	c.-52 others(51): Show c.-52+20621_-52+20622insGTGTGTGTGTGTGTGTGTGTGTATAT ATATAT	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD12_chr18_9131781_9290985	9157585	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0161 a0002c0002t0032g0161	1	318	0.0031	32	c.-52 others(51): Show c.-52+20621_-52+20622insGTGTGTGTGTGTGTGTGTGTGTGTAT ATATAT	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp1 HG00544.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0115 a0001c0002t0002g0058 a0001c0002t0002g0115	2	292	0.0069	32	c.696 others(51): Show c.6962-1474_6962-1473insATATATATATATATATATATATTTTT TTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19066.hp1 HG00642.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0258 a0001c0003t0003g0285 a0001c0003t0003g0258 a0001c0003t0003g0285	2	292	0.0069	32	c.696 others(51): Show c.6962-1474_6962-1473insATATATATATATATATATATATATTT TTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02135.hp1 HG01258.hp2 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0169 a0001c0003t0003g0237 a0001c0002t0002g0169 a0001c0003t0003g0237	2	292	0.0069	32	c.696 others(51): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT TTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0244 a0001c0003t0003g0244	1	292	0.0034	32	c.696 others(51): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086950	A A	ATATATAT others(25): Show ATATATATATATATATATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	292	0.0034	32	c.696 others(51): Show c.6962-1505_6962-1504insGATAGATAGATAGATATATATATATA TATATA	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01256.hp1 others(31): Show HG01106.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01993.hp1 HG02056.hp2 HG02273.hp1 HG02293.hp2 HG02630.hp1 HG02647.hp1 HG03017.hp1 HG03130.hp1 HG03453.hp2 HG03491.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18939.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18977.hp1 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19058.hp2 NA19066.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0005t0002 a0003c0024t0002	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(31): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0269 a0001c0002t0001g0088 a0001c0002t0001g0168 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0002g0125 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0004g0118 a0001c0004t0001g0066 a0001c0005t0002g0133 a0003c0024t0002g0087	34	292	0.1164	32	c.705 others(49): Show c.705-2018_705-1987dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD1_chr10_90907096_90926087	90918983	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG01978.hp1 others(6): Show HG00738.hp1 HG01884.hp2 HG01978.hp1 HG02109.hp1 HG02523.hp1 HG02717.hp2 HG03516.hp2 HG03579.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015	a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0174 others(6): Show a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0004g0090 a0001c0001t0007g0091 a0001c0001t0010g0094 a0001c0001t0015g0093	9	468	0.0192	32	c.346 others(45): Show c.346-12_346-11insATATATATATATATATATATATATATATATAT	ANKRD1	ENSG00000148677.7	transcript	ENST00000371697.4	protein_coding	3/8			chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88822544	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0193 a0001c0001t0057g0193	1	418	0.0024	32	c.39 others(41): Show c.396_*397insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	6/6	396		chr10	TogoVar
ANKRD26_chr10_26999116_27105494	27104818	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA20129.hp1 HG01123.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0094 a0007c0008t0001g0076 a0001c0001t0001g0094 a0007c0008t0001g0076	2	358	0.0056	32	c.-44 others(43): Show c.-4493_-4492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4325		chr10	TogoVar
ANKRD29_chr18_23593926_23667911	23632529	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03486.hp1 HG01167.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0022 a0001c0001t0009g0020 a0001c0001t0009g0022	2	352	0.0057	32	c.429 others(49): Show c.429+1521_429+1522insTATATATATATATATATATATATATATA TATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	5/9			chr18	TogoVar
ANKRD29_chr18_23593926_23667911	23632531	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 NA19043.hp2 HG02109.hp1 HG02723.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0295 a0001c0002t0001g0317 a0001c0002t0008g0315 a0001c0001t0001g0295 a0001c0002t0001g0317 a0001c0002t0008g0315	3	352	0.0085	32	c.429 others(49): Show c.429+1519_429+1520insTATATATATATATATATATATATATATA TATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	5/9			chr18	TogoVar
ANKRD2_chr10_97567779_97588884	97574911	G G	GTCTGCCA others(25): Show GTCTGCCACAGACACACAGTGCTGCCAATAGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02818.hp1 others(4): Show HG01891.hp1 HG02630.hp1 HG02818.hp1 HG03041.hp2 HG03139.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0154	7	442	0.0158	32	c.87+ others(47): Show c.87+2036_87+2037insTCTGCCACAGACACACAGTGCTGCCAATAG TC	ANKRD2	ENSG00000165887.12	transcript	ENST00000370655.6	protein_coding	1/8			chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37167287	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02965.hp1 HG03225.hp1 others(3): Show HG02135.hp2 HG02965.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp2 NA18941.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0008 a0004c0004 a0007c0010 a0002c0008 a0004c0004 a0007c0010	a0002c0008t0001 a0004c0004t0002 a0007c0010t0001 a0002c0008t0001 a0004c0004t0002 a0007c0010t0001	a0002c0008t0001g0217 a0002c0008t0001g0226 a0004c0004t0002g0277 others(3): Show a0002c0008t0001g0217 a0002c0008t0001g0226 a0004c0004t0002g0277 a0004c0004t0002g0283 a0007c0010t0001g0093 a0007c0010t0001g0097	6	286	0.0210	32	c.215 others(49): Show c.2155+607_2155+608insTATATATATATATATATATATATATATA TATA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37232697	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	286	0.0035	32	c.41 others(41): Show c.410_*411insATATATATATATATATATATATATATATATAA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding		131		chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14747257	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	316	0.0032	32	c.-11 others(43): Show c.-1163_-1162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		914		chr18	TogoVar
ANKRD34B_chr5_80551755_80575280	80568925	C C	CACACACA others(25): Show CACACACACACACACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	392	0.0026	32	c.-19 others(47): Show c.-191+34_-191+35insCTCTCTCTCTGTGTGTGTGTGTGTGTGTGT GT	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	2/4			chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95981341	A A	ATATAAAA others(25): Show ATATAAAATATATATTGTATATTATATATAATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp1 HG01258.hp1 others(4): Show HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG02258.hp1 HG03654.hp2	a0002 a0013 a0040 a0002 a0013 a0040	a0002c0013 a0013c0014 a0040c0044 a0002c0013 a0013c0014 a0040c0044	a0002c0013t0001 a0013c0014t0001 a0040c0044t0001 a0002c0013t0001 a0013c0014t0001 a0040c0044t0001	a0002c0013t0001g0182 a0002c0013t0001g0196 a0002c0013t0001g0197 others(4): Show a0002c0013t0001g0182 a0002c0013t0001g0196 a0002c0013t0001g0197 a0013c0014t0001g0195 a0013c0014t0001g0198 a0013c0014t0001g0266 a0040c0044t0001g0199	7	298	0.0235	32	c.594 others(47): Show c.594-588_594-557dupGATTATATATAATATACAATATATATTTTA TA	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	4/87			chr2	TogoVar
ANKRD40CL_chr17_50756030_50772518	50761033	A A	ATTATTTA others(25): Show ATTATTTATTTATTTATTTATTTATTTATTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	456	0.0022	32	c.32 others(41): Show c.329_*330insATAAATAAATAAATAAATAAATAAATAAATAA	ANKRD40CL	ENSG00000167117.10	transcript	ENST00000450727.6	protein_coding	4/4	329		chr17	TogoVar
ANKRD44_chr2_196981662_197315780	197248576	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	114	0.0088	32	c.28- others(49): Show c.28-61471_28-61470insTATATATATATATATATATATATATATA TATA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197305967	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0002t0002g0083 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0002t0002g0083	3	114	0.0263	32	c.27+ others(47): Show c.27+4610_27+4611insTATATATATATATATATATATATATATATA TA	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD54_chr22_37825855_37849334	37845004	T T	TGCTAAGG others(25): Show TGCTAAGGTCATCTGCTTGTTTTCTCATTAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	384	0.0026	32	c.-76 others(41): Show c.-767_-766insGTCTAATGAGAAAACAAGCAGATGACCTTAGC	ANKRD54	ENSG00000100124.15	transcript	ENST00000215941.9	protein_coding		671		chr22	TogoVar
ANKRD55_chr5_56094680_56238330	56112509	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	308	0.0033	32	c.966 others(47): Show c.966-728_966-727insGTTTTTTTTTTTGTTTTTTTTTTTTTTTTT TT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112510	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	308	0.0033	32	c.966 others(47): Show c.966-729_966-728insGTTTTTTTTTTTGTTTTTTTTTTTTTTTTT TT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56112510	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAACACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	308	0.0033	32	c.966 others(47): Show c.966-729_966-728insGTTTTTTTTTTTGTGTTTTTTTTTTTTTTT TT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166153	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTCTTTCTTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0254 a0002c0002t0007g0254	1	308	0.0033	32	c.422 others(49): Show c.422+4540_422+4541insGAAGGAAGGAAGGAAAGAAAGAAGAAAG AAAG	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166153	T T	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	308	0.0033	32	c.422 others(49): Show c.422+4540_422+4541insGAAAGAAGAAAGAAAGAAAGAAAGAAAG AAAG	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACTATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0101 a0003c0008t0005g0101	1	270	0.0037	32	c.417 others(49): Show c.417+2263_417+2264insACACACACACACACACACACACACACAC TATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(25): Show CACACACACACACACACACACTATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0002 a0004c0019t0002	a0004c0019t0002g0207 a0004c0019t0002g0207	1	270	0.0037	32	c.417 others(49): Show c.417+2263_417+2264insACACACACACACACACACACTATATATA TATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99850281	G G	GTCTCTCC others(25): Show GTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	48	0.0208	32	c.135 others(51): Show c.135-24893_135-24892insGAGAGAGAGAGAGAGAGAGAGAGAGG GAGAGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	1/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99874022	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	48	0.0208	32	c.135 others(51): Show c.135-48634_135-48633insATATATATATATATATATATATATAT ATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	1/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095251	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	302	0.0033	32	c.441 others(49): Show c.441+7198_441+7199insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095299	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 NA18612.hp1 others(5): Show HG00609.hp1 HG01109.hp1 NA18612.hp1 NA18939.hp1 NA18952.hp1 NA18962.hp1 NA19065.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0005t0003	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0002t0001g0133 a0001c0003t0001g0118 a0002c0005t0003g0132	8	302	0.0265	32	c.441 others(49): Show c.441+7226_441+7227insGGAAGGAAGGAAGGAAGGAAAGAAAGAA AGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5610723	C C	CATATATA others(25): Show CATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02280.hp2 HG03486.hp2 others(1): Show HG00621.hp1 HG02280.hp2 HG03486.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0002 a0002c0003 a0003c0011 others(1): Show a0001c0002 a0002c0003 a0003c0011 a0012c0022	a0001c0002t0001 a0002c0003t0002 a0003c0011t0001 others(1): Show a0001c0002t0001 a0002c0003t0002 a0003c0011t0001 a0012c0022t0002	a0001c0002t0001g0022 a0002c0003t0002g0155 a0003c0011t0001g0072 others(1): Show a0001c0002t0001g0022 a0002c0003t0002g0155 a0003c0011t0001g0072 a0012c0022t0002g0129	4	162	0.0247	32	c.208 others(51): Show c.2087+1932_2087+1933insATATATATATATATATATATATATGT ATATAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26441106	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	190	0.0053	32	c.47- others(45): Show c.47-783_47-782insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG02647.hp2 others(2): Show HG00140.hp2 HG01952.hp1 HG02647.hp2 HG03471.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0001c0001t0001 a0001c0002t0002 a0001c0004t0003	a0001c0001t0001g0094 a0001c0001t0001g0139 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0002t0002g0181 a0001c0004t0003g0076	5	190	0.0263	32	c.115 others(51): Show c.1154+2184_1154+2185insCATATATATATATATATATATATATA TATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26544251	C C	CACATATA others(25): Show CACATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0178 a0001c0002t0008g0178	1	190	0.0053	32	c.115 others(51): Show c.1154+2184_1154+2185insCATATATATATATATATATATGTATA TATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr11	TogoVar

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