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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AHNAK2_chr14_104932253_104983374	104947219	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.823 others(4): Show c.8232G>A	p.Val others(7): Show p.Val2744Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8369/18335	8232/17388	2744/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947225	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.822 others(4): Show c.8226T>C	p.Pro others(7): Show p.Pro2742Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8363/18335	8226/17388	2742/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947251	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.820 others(4): Show c.8200C>T	p.Leu others(7): Show p.Leu2734Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8337/18335	8200/17388	2734/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947252	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.819 others(4): Show c.8199G>A	p.Lys others(7): Show p.Lys2733Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8336/18335	8199/17388	2733/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947276	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.817 others(4): Show c.8175C>T	p.Ala others(7): Show p.Ala2725Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8312/18335	8175/17388	2725/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947288	A A	C C	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.816 others(4): Show c.8163T>G	p.Val others(7): Show p.Val2721Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8300/18335	8163/17388	2721/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947300	T T	C C	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.815 others(4): Show c.8151A>G	p.Pro others(7): Show p.Pro2717Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8288/18335	8151/17388	2717/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947306	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.814 others(4): Show c.8145A>G	p.Lys others(7): Show p.Lys2715Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8282/18335	8145/17388	2715/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947312	A A	G G	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02622.hp2 HG02630.hp2 others(1): Show HG01891.hp2 HG02622.hp2 HG02630.hp2 HG03130.hp1	a0064 a0099 a0133 others(1): Show a0064 a0099 a0133 a0201	a0064c0165 a0099c0061 a0133c0097 others(1): Show a0064c0165 a0099c0061 a0133c0097 a0201c0154	a0064c0165t0001 a0099c0061t0001 a0133c0097t0001 others(1): Show a0064c0165t0001 a0099c0061t0001 a0133c0097t0001 a0201c0154t0001	a0064c0165t0001g0247 a0099c0061t0001g0091 a0133c0097t0001g0116 others(1): Show a0064c0165t0001g0247 a0099c0061t0001g0091 a0133c0097t0001g0116 a0201c0154t0001g0110	4	356	0.0112	c.813 others(4): Show c.8139T>C	p.Asp others(7): Show p.Asp2713Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8276/18335	8139/17388	2713/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947318	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.813 others(4): Show c.8133G>A	p.Gln others(7): Show p.Gln2711Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8270/18335	8133/17388	2711/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947342	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.810 others(4): Show c.8109C>T	p.Ala others(7): Show p.Ala2703Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8246/18335	8109/17388	2703/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947345	A A	G G	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG03130.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0028 a0064	a0028c0019 a0064c0165 a0028c0019 a0064c0165	a0028c0019t0009 a0064c0165t0001 a0028c0019t0009 a0064c0165t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247	3	356	0.0084	c.810 others(4): Show c.8106T>C	p.Ser others(7): Show p.Ser2702Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8243/18335	8106/17388	2702/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947348	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.810 others(4): Show c.8103C>T	p.Pro others(7): Show p.Pro2701Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8240/18335	8103/17388	2701/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947378	A A	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.807 others(4): Show c.8073T>G	p.Leu others(7): Show p.Leu2691Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8210/18335	8073/17388	2691/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947378	A A	G G	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.807 others(4): Show c.8073T>C	p.Leu others(7): Show p.Leu2691Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8210/18335	8073/17388	2691/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947381	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG03130.hp1 HG01891.hp2 HG03130.hp1	a0064 a0099 a0064 a0099	a0064c0165 a0099c0061 a0064c0165 a0099c0061	a0064c0165t0001 a0099c0061t0001 a0064c0165t0001 a0099c0061t0001	a0064c0165t0001g0247 a0099c0061t0001g0091 a0064c0165t0001g0247 a0099c0061t0001g0091	2	356	0.0056	c.807 others(4): Show c.8070C>T	p.Asp others(7): Show p.Asp2690Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8207/18335	8070/17388	2690/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947387	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.806 others(4): Show c.8064A>G	p.Gln others(7): Show p.Gln2688Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8201/18335	8064/17388	2688/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947411	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.804 others(4): Show c.8040C>T	p.Ala others(7): Show p.Ala2680Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8177/18335	8040/17388	2680/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947414	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.803 others(4): Show c.8037A>G	p.Glu others(7): Show p.Glu2679Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8174/18335	8037/17388	2679/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947444	C C	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.800 others(4): Show c.8007G>C	p.Ala others(7): Show p.Ala2669Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8144/18335	8007/17388	2669/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947450	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.800 others(4): Show c.8001C>T	p.Ile others(7): Show p.Ile2667Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8138/18335	8001/17388	2667/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947453	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(88): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(52): Show a0001 a0011 a0021 a0022 a0025 a0026 a0029 a0030 a0031 a0032 a0034 a0052 a0055 a0061 a0062 a0067 a0068 a0071 a0072 a0073 a0085 a0098 a0100 a0101 a0102 a0103 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0157 a0195 a0196 a0203 a0205	a0001c0001 a0001c0003 a0001c0045 others(60): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0052c0208 a0052c0209 a0055c0205 a0061c0166 a0062c0167 a0067c0058 a0068c0169 a0071c0177 a0072c0178 a0073c0171 a0085c0172 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0157c0080 a0195c0243 a0196c0207 a0203c0210 a0205c0245	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(60): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0052c0208t0002 a0052c0209t0002 a0055c0205t0002 a0061c0166t0002 a0062c0167t0002 a0067c0058t0002 a0068c0169t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0085c0172t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0157c0080t0003 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(71): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0052c0208t0002g0231 a0052c0209t0002g0232 a0055c0205t0002g0069 a0061c0166t0002g0293 a0062c0167t0002g0230 a0067c0058t0002g0302 a0068c0169t0002g0071 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0085c0172t0002g0296 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0157c0080t0003g0121 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067	91	356	0.2556	c.799 others(4): Show c.7998C>T	p.Ser others(7): Show p.Ser2666Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8135/18335	7998/17388	2666/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947468	C C	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.798 others(4): Show c.7983G>T	p.Ser others(7): Show p.Ser2661Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8120/18335	7983/17388	2661/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947480	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.797 others(4): Show c.7971A>G	p.Ser others(7): Show p.Ser2657Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8108/18335	7971/17388	2657/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947480	T T	G G	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.797 others(4): Show c.7971A>C	p.Ser others(7): Show p.Ser2657Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8108/18335	7971/17388	2657/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947483	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.796 others(4): Show c.7968A>G	p.Pro others(7): Show p.Pro2656Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8105/18335	7968/17388	2656/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947483	T T	G G	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.796 others(4): Show c.7968A>C	p.Pro others(7): Show p.Pro2656Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8105/18335	7968/17388	2656/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947516	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.793 others(4): Show c.7935T>C	p.Asp others(7): Show p.Asp2645Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8072/18335	7935/17388	2645/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947525	T T	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 NA20129.hp1	a0028 a0069 a0080 others(1): Show a0028 a0069 a0080 a0133	a0028c0019 a0069c0184 a0080c0180 others(1): Show a0028c0019 a0069c0184 a0080c0180 a0133c0097	a0028c0019t0009 a0069c0184t0002 a0080c0180t0002 others(1): Show a0028c0019t0009 a0069c0184t0002 a0080c0180t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0069c0184t0002g0209 others(2): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0069c0184t0002g0209 a0080c0180t0002g0181 a0133c0097t0001g0116	5	356	0.0140	c.792 others(4): Show c.7926A>T	p.Thr others(7): Show p.Thr2642Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8063/18335	7926/17388	2642/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947531	A A	C C	synonymous_variant synonymous_variant	LOW	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0069 a0080 a0069 a0080	a0069c0184 a0080c0180 a0069c0184 a0080c0180	a0069c0184t0002 a0080c0180t0002 a0069c0184t0002 a0080c0180t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0069c0184t0002g0209 a0080c0180t0002g0181	2	356	0.0056	c.792 others(4): Show c.7920T>G	p.Gly others(7): Show p.Gly2640Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8057/18335	7920/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947531	A A	G G	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.792 others(4): Show c.7920T>C	p.Gly others(7): Show p.Gly2640Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8057/18335	7920/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947540	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.791 others(4): Show c.7911C>T	p.Ala others(7): Show p.Ala2637Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8048/18335	7911/17388	2637/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947567	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.788 others(4): Show c.7884G>A	p.Ala others(7): Show p.Ala2628Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8021/18335	7884/17388	2628/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947578	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.787 others(4): Show c.7873C>T	p.Leu others(7): Show p.Leu2625Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8010/18335	7873/17388	2625/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947582	T T	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.786 others(4): Show c.7869A>C	p.Ala others(7): Show p.Ala2623Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8006/18335	7869/17388	2623/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947588	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.786 others(4): Show c.7863G>A	p.Pro others(7): Show p.Pro2621Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8000/18335	7863/17388	2621/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947600	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.785 others(4): Show c.7851C>T	p.Asp others(7): Show p.Asp2617Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7988/18335	7851/17388	2617/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947633	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.781 others(4): Show c.7818T>C	p.Asp others(7): Show p.Asp2606Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7955/18335	7818/17388	2606/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947636	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.781 others(4): Show c.7815C>T	p.Pro others(7): Show p.Pro2605Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7952/18335	7815/17388	2605/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947642	T T	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.780 others(4): Show c.7809A>G	p.Thr others(7): Show p.Thr2603Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7946/18335	7809/17388	2603/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947657	G G	C C	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.779 others(4): Show c.7794C>G	p.Pro others(7): Show p.Pro2598Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7931/18335	7794/17388	2598/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947666	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.778 others(4): Show c.7785G>A	p.Leu others(7): Show p.Leu2595Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7922/18335	7785/17388	2595/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947687	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.776 others(4): Show c.7764C>T	p.Val others(7): Show p.Val2588Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7901/18335	7764/17388	2588/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947690	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.776 others(4): Show c.7761T>C	p.Asp others(7): Show p.Asp2587Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7898/18335	7761/17388	2587/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947693	T T	C C	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.775 others(4): Show c.7758A>G	p.Leu others(7): Show p.Leu2586Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7895/18335	7758/17388	2586/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947711	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.774 others(4): Show c.7740C>T	p.Asp others(7): Show p.Asp2580Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7877/18335	7740/17388	2580/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947720	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.773 others(4): Show c.7731T>C	p.Pro others(7): Show p.Pro2577Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7868/18335	7731/17388	2577/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947771	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.768 others(4): Show c.7680C>T	p.Ala others(7): Show p.Ala2560Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7817/18335	7680/17388	2560/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947780	C C	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.767 others(4): Show c.7671G>C	p.Pro others(7): Show p.Pro2557Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7808/18335	7671/17388	2557/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947780	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG01884.hp2 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0074 a0075 a0076 others(1): Show a0074 a0075 a0076 a0197	a0074c0179 a0075c0164 a0076c0163 others(1): Show a0074c0179 a0075c0164 a0076c0163 a0197c0057	a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 others(1): Show a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0197c0057t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 others(1): Show a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0197c0057t0001g0068	4	356	0.0112	c.767 others(4): Show c.7671G>A	p.Pro others(7): Show p.Pro2557Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7808/18335	7671/17388	2557/5795	chr14	TogoVar

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