Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	104950257	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	354	0.0141	c.519 others(4): Show c.5194C>T	p.Pro others(7): Show p.Pro1732Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5331/18335	5194/17388	1732/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950260	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0086 a0094 a0096	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0094c0139 a0096c0121	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171	9	354	0.0254	c.519 others(4): Show c.5191C>G	p.Leu others(7): Show p.Leu1731Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5328/18335	5191/17388	1731/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950262	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.518 others(4): Show c.5189C>A	p.Pro others(7): Show p.Pro1730His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5326/18335	5189/17388	1730/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950271	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.518 others(4): Show c.5180C>T	p.Pro others(7): Show p.Pro1727Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5317/18335	5180/17388	1727/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950284	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02486.hp2 others(13): Show HG01167.hp2 HG01884.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18522.hp1 NA20129.hp1 NA20300.hp2	a0008 a0016 a0034 others(9): Show a0008 a0016 a0034 a0046 a0054 a0068 a0075 a0084 a0086 a0094 a0096 a0116	a0008c0010 a0016c0113 a0034c0031 others(9): Show a0008c0010 a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0068c0127 a0075c0063 a0084c0054 a0086c0099 a0094c0139 a0096c0121 a0116c0055	a0008c0010t0003 a0016c0113t0002 a0034c0031t0002 others(9): Show a0008c0010t0003 a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0068c0127t0002 a0075c0063t0001 a0084c0054t0003 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0116c0055t0003	a0008c0010t0003g0013 a0008c0010t0003g0131 a0008c0010t0003g0138 others(12): Show a0008c0010t0003g0013 a0008c0010t0003g0131 a0008c0010t0003g0138 a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0068c0127t0002g0145 a0075c0063t0001g0111 a0084c0054t0003g0149 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0116c0055t0003g0148	16	354	0.0452	c.516 others(4): Show c.5167A>G	p.Asn others(7): Show p.Asn1723Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5304/18335	5167/17388	1723/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950287	C C	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	0.0028	c.516 others(4): Show c.5164G>T	p.Val others(7): Show p.Val1722Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5301/18335	5164/17388	1722/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950302	C C	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	0.0028	c.514 others(4): Show c.5149G>C	p.Val others(7): Show p.Val1717Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5286/18335	5149/17388	1717/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950305	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.514 others(4): Show c.5146G>A	p.Glu others(7): Show p.Glu1716Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5283/18335	5146/17388	1716/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950308	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.514 others(4): Show c.5143C>G	p.Leu others(7): Show p.Leu1715Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5280/18335	5143/17388	1715/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950309	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.514 others(4): Show c.5142C>A	p.Asp others(7): Show p.Asp1714Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5279/18335	5142/17388	1714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950311	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.514 others(4): Show c.5140G>C	p.Asp others(7): Show p.Asp1714His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5277/18335	5140/17388	1714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950314	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	0.0028	c.513 others(4): Show c.5137G>A	p.Ala others(7): Show p.Ala1713Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5274/18335	5137/17388	1713/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950319	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.513 others(4): Show c.5132C>T	p.Pro others(7): Show p.Pro1711Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5269/18335	5132/17388	1711/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950323	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02074.hp2 others(8): Show HG01167.hp2 HG01884.hp1 HG02074.hp2 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03688.hp1 HG03942.hp1 NA20129.hp1	a0001 a0016 a0034 others(7): Show a0001 a0016 a0034 a0046 a0054 a0075 a0086 a0089 a0094 a0096	a0001c0064 a0016c0113 a0034c0031 others(7): Show a0001c0064 a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0089c0146 a0094c0139 a0096c0121	a0001c0064t0001 a0016c0113t0002 a0034c0031t0002 others(7): Show a0001c0064t0001 a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0089c0146t0003 a0094c0139t0002 a0096c0121t0002	a0001c0064t0001g0191 a0016c0113t0002g0175 a0034c0031t0002g0169 others(8): Show a0001c0064t0001g0191 a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0089c0146t0003g0140 a0094c0139t0002g0207 a0096c0121t0002g0171	11	354	0.0311	c.512 others(4): Show c.5128T>C	p.Ser others(7): Show p.Ser1710Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5265/18335	5128/17388	1710/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950329	T T	C C	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0089 a0089	a0089c0146 a0089c0146	a0089c0146t0003 a0089c0146t0003	a0089c0146t0003g0140 a0089c0146t0003g0140	1	354	0.0028	c.512 others(4): Show c.5122A>G	p.Ile others(7): Show p.Ile1708Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5259/18335	5122/17388	1708/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950335	G G	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.511 others(4): Show c.5116C>A	p.Leu others(7): Show p.Leu1706Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5253/18335	5116/17388	1706/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950338	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00609.hp2 HG00621.hp1 others(30): Show HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp2 HG01256.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG03704.hp2 HG04184.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18963.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19055.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19091.hp1	a0001 a0007 a0011 others(3): Show a0001 a0007 a0011 a0051 a0095 a0103	a0001c0002 a0007c0008 a0011c0089 others(3): Show a0001c0002 a0007c0008 a0011c0089 a0051c0074 a0095c0056 a0103c0059	a0001c0002t0001 a0007c0008t0001 a0007c0008t0014 others(4): Show a0001c0002t0001 a0007c0008t0001 a0007c0008t0014 a0011c0089t0001 a0051c0074t0001 a0095c0056t0001 a0103c0059t0001	a0001c0002t0001g0001 a0001c0002t0001g0122 a0001c0002t0001g0150 others(13): Show a0001c0002t0001g0001 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0230 a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 a0007c0008t0014g0192 a0011c0089t0001g0160 a0051c0074t0001g0190 a0095c0056t0001g0172 a0103c0059t0001g0199	33	354	0.0932	c.511 others(4): Show c.5113G>C	p.Asp others(7): Show p.Asp1705His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5250/18335	5113/17388	1705/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950344	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(7): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG04228.hp2 NA19012.hp1 NA20129.hp1	a0016 a0032 a0034 others(5): Show a0016 a0032 a0034 a0035 a0036 a0046 a0054 a0075	a0016c0113 a0032c0021 a0034c0031 others(5): Show a0016c0113 a0032c0021 a0034c0031 a0035c0035 a0036c0029 a0046c0102 a0054c0097 a0075c0063	a0016c0113t0002 a0032c0021t0009 a0034c0031t0002 others(5): Show a0016c0113t0002 a0032c0021t0009 a0034c0031t0002 a0035c0035t0002 a0036c0029t0001 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001	a0016c0113t0002g0175 a0032c0021t0009g0058 a0032c0021t0009g0059 others(7): Show a0016c0113t0002g0175 a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0035c0035t0002g0075 a0036c0029t0001g0043 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111	10	354	0.0282	c.510 others(4): Show c.5107A>G	p.Thr others(7): Show p.Thr1703Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5244/18335	5107/17388	1703/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950368	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.508 others(4): Show c.5083C>T	p.Pro others(7): Show p.Pro1695Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5220/18335	5083/17388	1695/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950371	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.508 others(4): Show c.5080C>T	p.Leu others(7): Show p.Leu1694Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5217/18335	5080/17388	1694/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950376	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0075 a0094 a0075 a0094	a0075c0063 a0094c0139 a0075c0063 a0094c0139	a0075c0063t0001 a0094c0139t0002 a0075c0063t0001 a0094c0139t0002	a0075c0063t0001g0111 a0094c0139t0002g0207 a0075c0063t0001g0111 a0094c0139t0002g0207	2	354	0.0056	c.507 others(4): Show c.5075T>G	p.Val others(7): Show p.Val1692Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5212/18335	5075/17388	1692/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950377	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03130.hp1 HG03942.hp1 others(2): Show HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0086 a0096 a0022 a0086 a0096	a0022c0020 a0086c0099 a0096c0121 a0022c0020 a0086c0099 a0096c0121	a0022c0020t0002 a0086c0099t0001 a0096c0121t0002 a0022c0020t0002 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171 a0022c0020t0002g0015 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.507 others(4): Show c.5074G>A	p.Val others(7): Show p.Val1692Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5211/18335	5074/17388	1692/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950386	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0088 a0088	a0088c0104 a0088c0104	a0088c0104t0002 a0088c0104t0002	a0088c0104t0002g0215 a0088c0104t0002g0215	1	354	0.0028	c.506 others(4): Show c.5065G>A	p.Glu others(7): Show p.Glu1689Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5202/18335	5065/17388	1689/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950388	A A	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0088 a0088	a0088c0104 a0088c0104	a0088c0104t0002 a0088c0104t0002	a0088c0104t0002g0215 a0088c0104t0002g0215	1	354	0.0028	c.506 others(4): Show c.5063T>C	p.Val others(7): Show p.Val1688Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5200/18335	5063/17388	1688/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950394	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03688.hp1 HG03209.hp1 HG03688.hp1	a0088 a0094 a0088 a0094	a0088c0104 a0094c0139 a0088c0104 a0094c0139	a0088c0104t0002 a0094c0139t0002 a0088c0104t0002 a0094c0139t0002	a0088c0104t0002g0215 a0094c0139t0002g0207 a0088c0104t0002g0215 a0094c0139t0002g0207	2	354	0.0056	c.505 others(4): Show c.5057C>T	p.Pro others(7): Show p.Pro1686Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5194/18335	5057/17388	1686/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950397	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01071.hp1 HG01081.hp1 others(12): Show HG00099.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0002 a0016 a0022 others(8): Show a0002 a0016 a0022 a0023 a0026 a0034 a0046 a0054 a0075 a0086 a0096	a0002c0005 a0016c0113 a0022c0020 others(9): Show a0002c0005 a0016c0113 a0022c0020 a0023c0016 a0026c0128 a0026c0129 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0096c0121	a0002c0005t0002 a0016c0113t0002 a0022c0020t0002 others(9): Show a0002c0005t0002 a0016c0113t0002 a0022c0020t0002 a0023c0016t0001 a0026c0128t0002 a0026c0129t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0096c0121t0002	a0002c0005t0002g0004 a0016c0113t0002g0175 a0022c0020t0002g0015 others(10): Show a0002c0005t0002g0004 a0016c0113t0002g0175 a0022c0020t0002g0015 a0023c0016t0001g0024 a0026c0128t0002g0204 a0026c0129t0002g0205 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0096c0121t0002g0171	15	354	0.0424	c.505 others(4): Show c.5054A>C	p.Glu others(7): Show p.Glu1685Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5191/18335	5054/17388	1685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950398	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.505 others(4): Show c.5053G>C	p.Glu others(7): Show p.Glu1685Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5190/18335	5053/17388	1685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950404	C C	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.504 others(4): Show c.5047G>C	p.Val others(7): Show p.Val1683Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5184/18335	5047/17388	1683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950415	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 NA19043.hp2 HG00099.hp2 NA19043.hp2	a0002 a0112 a0002 a0112	a0002c0005 a0112c0132 a0002c0005 a0112c0132	a0002c0005t0002 a0112c0132t0015 a0002c0005t0002 a0112c0132t0015	a0002c0005t0002g0004 a0112c0132t0015g0258 a0002c0005t0002g0004 a0112c0132t0015g0258	2	354	0.0056	c.503 others(4): Show c.5036C>A	p.Ala others(7): Show p.Ala1679Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5173/18335	5036/17388	1679/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950418	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.503 others(4): Show c.5033A>C	p.Glu others(7): Show p.Glu1678Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5170/18335	5033/17388	1678/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950420	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 NA19043.hp2 HG00099.hp2 NA19043.hp2	a0002 a0112 a0002 a0112	a0002c0005 a0112c0132 a0002c0005 a0112c0132	a0002c0005t0002 a0112c0132t0015 a0002c0005t0002 a0112c0132t0015	a0002c0005t0002g0004 a0112c0132t0015g0258 a0002c0005t0002g0004 a0112c0132t0015g0258	2	350	0.0057	c.503 others(4): Show c.5031C>G	p.Ile others(7): Show p.Ile1677Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5168/18335	5031/17388	1677/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950426	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0088 a0088	a0088c0104 a0088c0104	a0088c0104t0002 a0088c0104t0002	a0088c0104t0002g0215 a0088c0104t0002g0215	1	354	0.0028	c.502 others(4): Show c.5025G>C	p.Lys others(7): Show p.Lys1675Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5162/18335	5025/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950427	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0002 a0041c0053t0002	a0041c0053t0002g0147 a0041c0053t0002g0147	1	354	0.0028	c.502 others(4): Show c.5024A>G	p.Lys others(7): Show p.Lys1675Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5161/18335	5024/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950428	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02056.hp2 HG02630.hp1 others(1): Show HG01496.hp1 HG02056.hp2 HG02630.hp1 NA18941.hp1	a0030 a0052 a0074 a0030 a0052 a0074	a0030c0028 a0052c0049 a0074c0103 a0030c0028 a0052c0049 a0074c0103	a0030c0028t0001 a0052c0049t0001 a0074c0103t0002 a0030c0028t0001 a0052c0049t0001 a0074c0103t0002	a0030c0028t0001g0027 a0052c0049t0001g0114 a0074c0103t0002g0080 a0030c0028t0001g0027 a0052c0049t0001g0114 a0074c0103t0002g0080	4	354	0.0113	c.502 others(4): Show c.5023A>G	p.Lys others(7): Show p.Lys1675Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5160/18335	5023/17388	1675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950439	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	0.0028	c.501 others(4): Show c.5012C>T	p.Ser others(7): Show p.Ser1671Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5149/18335	5012/17388	1671/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950462	G G	C C	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 NA18522.hp1	a0008 a0079 a0008 a0079	a0008c0010 a0079c0043 a0008c0010 a0079c0043	a0008c0010t0003 a0079c0043t0001 a0008c0010t0003 a0079c0043t0001	a0008c0010t0003g0013 a0008c0010t0003g0131 a0008c0010t0003g0138 others(1): Show a0008c0010t0003g0013 a0008c0010t0003g0131 a0008c0010t0003g0138 a0079c0043t0001g0074	5	354	0.0141	c.498 others(4): Show c.4989C>G	p.Phe others(7): Show p.Phe1663Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5126/18335	4989/17388	1663/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950471	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.498 others(4): Show c.4980G>T	p.Met others(7): Show p.Met1660Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5117/18335	4980/17388	1660/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950481	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.497 others(4): Show c.4970A>G	p.Lys others(7): Show p.Lys1657Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5107/18335	4970/17388	1657/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950494	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0075 a0086	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216	7	354	0.0198	c.495 others(4): Show c.4957G>A	p.Ala others(7): Show p.Ala1653Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5094/18335	4957/17388	1653/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950500	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	353	0.0142	c.495 others(4): Show c.4951G>T	p.Val others(7): Show p.Val1651Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5088/18335	4951/17388	1651/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950500	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	349	0.0029	c.495 others(4): Show c.4951G>A	p.Val others(7): Show p.Val1651Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5088/18335	4951/17388	1651/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950502	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	336	0.0030	c.494 others(4): Show c.4949C>G	p.Ala others(7): Show p.Ala1650Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5086/18335	4949/17388	1650/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950502	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp2 HG01169.hp1 others(15): Show HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG02056.hp1 HG02630.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp2 NA18954.hp1 NA19012.hp2 NA20129.hp1	a0001 a0012 a0014 others(10): Show a0001 a0012 a0014 a0016 a0022 a0034 a0046 a0054 a0075 a0086 a0089 a0096 a0099	a0001c0040 a0012c0108 a0014c0041 others(10): Show a0001c0040 a0012c0108 a0014c0041 a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0086c0099 a0089c0146 a0096c0121 a0099c0145	a0001c0040t0001 a0012c0108t0003 a0014c0041t0003 others(10): Show a0001c0040t0001 a0012c0108t0003 a0014c0041t0003 a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0086c0099t0001 a0089c0146t0003 a0096c0121t0002 a0099c0145t0003	a0001c0040t0001g0029 a0012c0108t0003g0081 a0014c0041t0003g0030 others(11): Show a0001c0040t0001g0029 a0012c0108t0003g0081 a0014c0041t0003g0030 a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0086c0099t0001g0216 a0089c0146t0003g0140 a0096c0121t0002g0171 a0099c0145t0003g0139	18	353	0.0510	c.494 others(4): Show c.4949C>A	p.Ala others(7): Show p.Ala1650Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5086/18335	4949/17388	1650/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950509	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.494 others(4): Show c.4942G>A	p.Asp others(7): Show p.Asp1648Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5079/18335	4942/17388	1648/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950515	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.493 others(4): Show c.4936C>G	p.Leu others(7): Show p.Leu1646Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5073/18335	4936/17388	1646/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950518	A A	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.493 others(4): Show c.4933T>A	p.Ser others(7): Show p.Ser1645Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5070/18335	4933/17388	1645/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950520	A A	T T	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	354	0.0028	c.493 others(4): Show c.4931T>A	p.Leu others(7): Show p.Leu1644Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5068/18335	4931/17388	1644/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950521	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	354	0.0141	c.493 others(4): Show c.4930C>A	p.Leu others(7): Show p.Leu1644Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5067/18335	4930/17388	1644/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950526	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG03017.hp2 others(2): Show HG01167.hp2 HG01884.hp1 HG03017.hp2 HG03195.hp2 NA20129.hp1	a0016 a0034 a0046 others(1): Show a0016 a0034 a0046 a0054	a0016c0113 a0034c0031 a0046c0102 others(1): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(1): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(2): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247	5	354	0.0141	c.492 others(4): Show c.4925G>A	p.Gly others(7): Show p.Gly1642Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5062/18335	4925/17388	1642/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950528	C C	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG03942.hp1 NA18954.hp1 others(1): Show HG02056.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0022 a0096 a0022 a0096	a0022c0020 a0096c0121 a0022c0020 a0096c0121	a0022c0020t0002 a0096c0121t0002 a0022c0020t0002 a0096c0121t0002	a0022c0020t0002g0015 a0096c0121t0002g0171 a0022c0020t0002g0015 a0096c0121t0002g0171	4	354	0.0113	c.492 others(4): Show c.4923G>C	p.Glu others(7): Show p.Glu1641Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5060/18335	4923/17388	1641/5795	chr14	TogoVar

Search by Variant

Search

Search Results