Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ANK3_chr10_60021298_60394875	60200123	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02451.hp2 HG02572.hp2 others(5): Show HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02965.hp2 HG02970.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0019	a0001c0001 a0001c0039 a0001c0047 others(4): Show a0001c0001 a0001c0039 a0001c0047 a0001c0055 a0003c0006 a0008c0014 a0019c0060	a0001c0001t0008 a0001c0001t0042 a0001c0039t0012 others(5): Show a0001c0001t0008 a0001c0001t0042 a0001c0039t0012 a0001c0047t0045 a0001c0055t0015 a0003c0006t0028 a0008c0014t0008 a0019c0060t0043	a0001c0001t0008g0047 a0001c0001t0042g0145 a0001c0039t0012g0034 others(5): Show a0001c0001t0008g0047 a0001c0001t0042g0145 a0001c0039t0012g0034 a0001c0047t0045g0131 a0001c0055t0015g0130 a0003c0006t0028g0010 a0008c0014t0008g0152 a0019c0060t0043g0046	8	190	0.0421	0	c.149 others(6): Show c.1491+6C>T		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	13/43				chr10	TogoVar
ANKAR_chr2_189669670_189751647	189693182	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02897.hp1 HG03139.hp2 others(2): Show HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03209.hp2 NA18522.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0068 a0005c0004t0001g0069 a0005c0004t0001g0070 others(2): Show a0005c0004t0001g0068 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0276 a0005c0004t0001g0277	5	294	0.0170	0	c.130 others(6): Show c.1307+5G>A		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	5/22				chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64915905	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0320 a0001c0002t0002g0320	1	336	0.0030	0	c.138 others(5): Show c.138+5G>A		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	2/14				chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64921914	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp2 HG02145.hp1 others(13): Show HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02451.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 NA18948.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0009c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0003 a0002c0003t0002 a0009c0012t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0238 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0320 a0001c0002t0004g0224 a0001c0002t0004g0246 a0001c0004t0003g0034 a0001c0004t0003g0247 a0001c0004t0003g0305 a0002c0003t0002g0032 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0116 a0009c0012t0001g0239	16	336	0.0476	0	c.268 others(5): Show c.268-7C>T		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	3/14				chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64921923	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0221 a0001c0013t0001g0221	1	336	0.0030	0	c.270 others(3): Show c.270T>C	p.Phe others(5): Show p.Phe90Phe	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	4/15	299/3101	270/1569	90/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64930824	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02280.hp1 HG02970.hp1 HG03579.hp2 others(1): Show HG02280.hp1 HG02970.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0015 a0002c0016 a0001c0009 a0001c0015 a0002c0016	a0001c0009t0003 a0001c0015t0002 a0002c0016t0002 a0001c0009t0003 a0001c0015t0002 a0002c0016t0002	a0001c0009t0003g0177 a0001c0009t0003g0192 a0001c0015t0002g0254 others(1): Show a0001c0009t0003g0177 a0001c0009t0003g0192 a0001c0015t0002g0254 a0002c0016t0002g0256	4	336	0.0119	0	c.573 others(3): Show c.573G>A	p.Glu others(6): Show p.Glu191Glu	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	7/15	602/3101	573/1569	191/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64934241	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp1 HG01261.hp1 others(5): Show HG01168.hp1 HG01169.hp1 HG01261.hp1 HG02735.hp1 HG03491.hp1 NA18953.hp2 NA19010.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0006 a0002c0003t0002 a0001c0001t0001 a0001c0002t0006 a0002c0003t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0006g0015 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0006g0017 a0001c0002t0006g0018 a0001c0002t0006g0022 a0002c0003t0002g0023	8	336	0.0238	0	c.867 others(5): Show c.867+7A>G		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	9/14				chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64943580	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(68): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18951.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18972.hp2 NA18980.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0002c0005 a0002c0006 others(2): Show a0002c0003 a0002c0005 a0002c0006 a0002c0016 a0005c0010	a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0005t0002 a0002c0006t0007 a0002c0016t0002 a0005c0010t0002	a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0011 others(64): Show a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0011 a0002c0003t0002g0023 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0032 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0049 a0002c0003t0002g0083 a0002c0003t0002g0109 a0002c0003t0002g0110 a0002c0003t0002g0112 a0002c0003t0002g0116 a0002c0003t0002g0122 a0002c0003t0002g0144 a0002c0003t0002g0148 a0002c0003t0002g0163 a0002c0003t0002g0165 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0185 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0219 a0002c0003t0002g0229 a0002c0003t0002g0231 a0002c0003t0002g0244 a0002c0003t0002g0250 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0273 a0002c0003t0002g0277 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0290 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0299 a0002c0003t0002g0304 a0002c0003t0002g0306 a0002c0003t0002g0308 a0002c0003t0006g0164 a0002c0005t0002g0007 a0002c0005t0002g0211 a0002c0005t0002g0212 a0002c0005t0002g0214 a0002c0005t0002g0220 a0002c0005t0002g0225 a0002c0006t0007g0005 a0002c0006t0007g0131 a0002c0006t0007g0166 a0002c0016t0002g0256 a0005c0010t0002g0199 a0005c0010t0002g0205	71	336	0.2113	0	c.106 others(4): Show c.1063A>G	p.Lys others(6): Show p.Lys355Glu	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	11/15	1092/3101	1063/1569	355/522	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64949980	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp2 NA19088.hp2 NA18953.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	336	0.0060	0	c.148 others(6): Show c.1483+8C>T		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14				chr15	TogoVar
ANKDD1B_chr5_75606453_75676846	75663395	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00735.hp1 HG01109.hp2 HG01167.hp1 others(25): Show HG00735.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp1	a0006 a0008 a0011 others(4): Show a0006 a0008 a0011 a0016 a0020 a0023 a0025	a0006c0009 a0008c0008 a0011c0012 others(4): Show a0006c0009 a0008c0008 a0011c0012 a0016c0017 a0020c0038 a0023c0033 a0025c0023	a0006c0009t0007 a0008c0008t0004 a0011c0012t0004 others(4): Show a0006c0009t0007 a0008c0008t0004 a0011c0012t0004 a0016c0017t0004 a0020c0038t0004 a0023c0033t0006 a0025c0023t0007	a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 others(23): Show a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 a0006c0009t0007g0207 a0006c0009t0007g0208 a0006c0009t0007g0209 a0006c0009t0007g0210 a0008c0008t0004g0018 a0008c0008t0004g0160 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0004g0165 a0008c0008t0004g0166 a0008c0008t0004g0167 a0008c0008t0004g0168 a0008c0008t0004g0169 a0011c0012t0004g0296 a0011c0012t0004g0297 a0011c0012t0004g0298 a0011c0012t0004g0299 a0011c0012t0004g0300 a0016c0017t0004g0241 a0016c0017t0004g0242 a0020c0038t0004g0244 a0023c0033t0006g0246 a0025c0023t0007g0189	28	370	0.0757	0	c.109 others(4): Show c.1097A>G	p.Gln others(6): Show p.Gln366Arg	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	11/14	1279/2575	1097/1587	366/528	chr5	TogoVar
ANKEF1_chr20_10029987_10063303	10049383	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0057 a0002c0003t0007g0057	1	390	0.0026	0	c.821 others(5): Show c.821-7G>A		ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	6/10				chr20	TogoVar
ANKEF1_chr20_10029987_10063303	10055503	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0024 a0015c0019t0024	a0015c0019t0024g0133 a0015c0019t0024g0133	1	390	0.0026	0	c.217 others(4): Show c.2174T>G	p.Ile others(6): Show p.Ile725Ser	ANKEF1	ENSG00000132623.16	transcript	ENST00000378392.6	protein_coding	11/11	2629/5429	2174/2331	725/776	chr20	TogoVar
ANKFN1_chr17_56148475_56522016	56227957	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0003 a0010c0015t0003	a0010c0015t0003g0008 a0010c0015t0003g0008	1	110	0.0091	0	c.53T others(2): Show c.53T>A	p.Ile others(5): Show p.Ile18Lys	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	3/21	179/9314	53/3441	18/1146	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56442838	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01884.hp2 HG02257.hp1 others(12): Show HG01243.hp1 HG01884.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18906.hp1 NA20129.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0004 a0001c0007 a0003c0003 others(3): Show a0001c0004 a0001c0007 a0003c0003 a0005c0013 a0005c0029 a0010c0015	a0001c0004t0006 a0001c0004t0011 a0001c0004t0015 others(7): Show a0001c0004t0006 a0001c0004t0011 a0001c0004t0015 a0001c0007t0007 a0003c0003t0003 a0003c0003t0012 a0005c0013t0004 a0005c0013t0027 a0005c0029t0021 a0010c0015t0003	a0001c0004t0006g0079 a0001c0004t0011g0065 a0001c0004t0015g0010 others(12): Show a0001c0004t0006g0079 a0001c0004t0011g0065 a0001c0004t0015g0010 a0001c0007t0007g0061 a0003c0003t0003g0001 a0003c0003t0003g0035 a0003c0003t0003g0089 a0003c0003t0003g0109 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0012g0003 a0005c0013t0004g0033 a0005c0013t0027g0047 a0005c0029t0021g0067 a0010c0015t0003g0008	15	110	0.1364	0	c.100 others(6): Show c.1009-5T>C		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	9/20				chr17	TogoVar
ANKFY1_chr17_4158821_4268979	4179713	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02886.hp1 HG02486.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0015 a0001c0001t0001g0017	2	298	0.0067	0	c.239 others(6): Show c.2397+8G>A		ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding	17/24				chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140449212	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0314 a0001c0019t0001g0314	1	320	0.0031	0	c.114 others(4): Show c.1149C>T	p.Gly others(6): Show p.Gly383Gly	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	7/34	1284/8195	1149/7629	383/2542	chr5	TogoVar
ANKH_chr5_14699800_14876778	14713538	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02145.hp2 HG02615.hp1 others(3): Show HG01243.hp2 HG02145.hp2 HG02615.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0001t0025 a0001c0004t0010 others(1): Show a0001c0001t0010 a0001c0001t0025 a0001c0004t0010 a0001c0004t0025	a0001c0001t0010g0055 a0001c0001t0010g0085 a0001c0001t0010g0086 others(3): Show a0001c0001t0010g0055 a0001c0001t0010g0085 a0001c0001t0010g0086 a0001c0001t0025g0206 a0001c0004t0010g0093 a0001c0004t0025g0232	6	230	0.0261	0	c.126 others(6): Show c.1265+6T>C		ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	10/11				chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92398205	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02647.hp1 HG02451.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0169 a0001c0002t0001g0170	2	312	0.0064	0	c.253 others(6): Show c.2533-7G>C		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	19/19				chr7	TogoVar
ANKK1_chr11_113382779_113405416	113394925	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	398	0.0025	0	c.481 others(5): Show c.481-4C>T		ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	2/7				chr11	TogoVar
ANKK1_chr11_113382779_113405416	113396069	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0001 a0019c0029t0001	a0019c0029t0001g0057 a0019c0029t0001g0057	1	398	0.0025	0	c.685 others(3): Show c.685T>A	p.Phe others(6): Show p.Phe229Ile	ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	5/8	791/2553	685/2298	229/765	chr11	TogoVar
ANKK1_chr11_113382779_113405416	113398957	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG03579.hp2 HG02109.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	398	0.0050	0	c.995 others(5): Show c.995-7C>G		ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	7/7				chr11	TogoVar
ANKLE1_chr19_17276901_17292646	17282057	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01884.hp1 HG01884.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0011 a0010c0015t0002g0011	1	404	0.0025	0	c.63G others(2): Show c.63G>A	p.Trp others(3): Show p.Trp21*	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/9	83/2962	63/1848	21/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282208	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0003 a0016c0032t0003	a0016c0032t0003g0005 a0016c0032t0003g0005	1	404	0.0025	0	c.214 others(3): Show c.214C>G	p.Arg others(5): Show p.Arg72Gly	ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/9	234/2962	214/1848	72/615	chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17282649	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0021 a0021c0030t0021	a0021c0030t0021g0029 a0021c0030t0021g0029	1	404	0.0025	0	c.216 others(5): Show c.216-7G>T		ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	2/8				chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17287380	GAGATTGT others(1662): Show GAGATTGTACCATTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCTGTCT CAAACAAACAAACAAAAAAACAAATGCCACATCAACATCAGGACGTTAAC CTTTAGACCCTATATGGTCTAAAAAGGGGAGGCATGAATAATCCACCCCT TGTTTAGCATATCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCC CTGCCCTGTCTATGGAGTAGCCATTCTTTTATTCCTTTAGTTTCTTAATA AATTTGCTTTCACTGTACTCTATGAACTCGCCCTGGATTCTTTCTAGCGT GAGATTGGAGAACCCTCTCTTGGGGTCTGGATCGGGCCTTTCTGGTAACA CTTTGGCAGCTTGGTGCTGTCAAAATGGATGGAGCCTGCCAGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAC AAGGTCAGGAGATTGAGACCGTCCTGGCTAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGACAGGCATGGTTGCAGGCGGCTATAATC CCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTG GAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACA GAGCGAGACTCTGTCTCAAAAAATAAATAAAATAAAATGGATAGAGGCTG CTTTTACCGCCCAGACATGGGACACCCACATGGCGGGTTGGACTGGGGGA TCCTCAGCTGCACTCAGGATATCTACCCAGCTCAAGAGCCAAGTTCACTG CTACCCAGCCGTGAGACCTCTGATCAGTATTTTATCTGCCTGAGCATCAG TTTCCTTGGTTGTACAGTGGAGGCAGTAAAGAGGTCCTACTCCAGGGGAT CATTGTAAGGTCATGTTGGGGCTGGGTGTCACGCTTGTAATCCCAGCACT TTGGGAGGCTGAGGCGGGAGCATAGCATGAGCCCAGGAGTTTGAGACCAG CCTGGGCAACATAGCAAGACTCTATCTCTACGAAAAGTAAAAACATTAGG CGGATCTGGTGGGTGGGCCTGTGGTCCTAGCTGCTTGGGAGCCTGAGGTG GGAAGATTGCTTGAGCCTGGGAGTTGGAGGCTTCAAGGAGCTACCATCAC AGCACTGCACTCCAGCCTGGGCGATATCAAGATCCTGTCTCTTAAAAAAA CTATAAAAATTTAAAAATAAGGTCATGTGAGCAAAGTGTGTGGCTCAGAG CCCAAAGTGTGTGGCAGTGCAGCCCAGGCGAGAACTTGCTGGAGGAAGGG GAGGTGTGGGGGCCCTCAAGGGGCCGCCTGTGTGATGAGGCGTGAGCAGG GCTGGGACCCTCCTCAGGATCATTGTGCAACCCCAGCCTCCCCTGTTGCT TCTGGGAACCTGTTTATCCACTATAAAATGGGATTATTGGCCGGGCTCGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATC ACCTGAGTTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCA TCTCTATTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTA ATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAG GCGGAGGTTGCAGTGAGCCA	G G	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG02922.hp2 HG02258.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	2	404	0.0050	-1669	c.82 others(10): Show c.829_*2497del		ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	9/9				chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132736886	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG02451.hp1 HG02630.hp1 others(4): Show HG01106.hp1 HG02451.hp1 HG02630.hp1 HG02976.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0317 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323	7	348	0.0201	0	c.159 others(6): Show c.1593+7T>A		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	8/12				chr12	TogoVar
ANKMY1_chr2_240474422_240562988	240499953	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	318	0.0031	0	c.280 others(6): Show c.2806+5G>A		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	15/17				chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240509453	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0187 a0001c0027t0001g0187	1	318	0.0031	0	c.228 others(4): Show c.2289T>C	p.Cys others(6): Show p.Cys763Cys	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	12/18	2414/3405	2289/3093	763/1030	chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240512795	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(15): Show a0001 a0003 a0004 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023	a0001c0001 a0001c0006 a0001c0008 others(31): Show a0001c0001 a0001c0006 a0001c0008 a0001c0014 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0038 a0001c0039 a0003c0004 a0003c0010 a0003c0011 a0003c0019 a0003c0036 a0004c0003 a0004c0016 a0007c0009 a0007c0023 a0008c0015 a0009c0020 a0010c0012 a0012c0013 a0013c0017 a0014c0026 a0014c0031 a0015c0021 a0016c0041 a0017c0034 a0018c0025 a0019c0022 a0020c0032 a0022c0033 a0023c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0014t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0001 a0001c0038t0001 a0001c0039t0001 a0003c0004t0001 a0003c0010t0001 a0003c0011t0001 a0003c0019t0001 a0003c0036t0005 a0004c0003t0001 a0004c0016t0001 a0007c0009t0001 a0007c0023t0001 a0008c0015t0001 a0009c0020t0001 a0010c0012t0001 a0012c0013t0001 a0013c0017t0001 a0014c0026t0001 a0014c0031t0001 a0015c0021t0001 a0016c0041t0001 a0017c0034t0004 a0018c0025t0004 a0019c0022t0001 a0020c0032t0001 a0022c0033t0001 a0023c0035t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(184): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0003g0004 a0001c0006t0001g0012 a0001c0006t0001g0116 a0001c0006t0001g0153 a0001c0006t0001g0192 a0001c0006t0001g0212 a0001c0006t0001g0226 a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234 a0001c0006t0001g0274 a0001c0006t0002g0297 a0001c0006t0002g0303 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0101 a0001c0008t0001g0102 a0001c0008t0001g0103 a0001c0008t0001g0105 a0001c0008t0001g0106 a0001c0008t0001g0107 a0001c0008t0001g0284 a0001c0014t0001g0030 a0001c0014t0001g0279 a0001c0027t0001g0187 a0001c0028t0001g0169 a0001c0029t0001g0162 a0001c0030t0001g0249 a0001c0038t0001g0237 a0001c0039t0001g0104 a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0253 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0263 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0273 a0003c0010t0001g0254 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0003c0011t0001g0048 a0003c0011t0001g0049 a0003c0011t0001g0050 a0003c0011t0001g0092 a0003c0019t0001g0051 a0003c0019t0001g0052 a0003c0036t0005g0013 a0004c0003t0001g0006 a0004c0003t0001g0060 a0004c0003t0001g0061 a0004c0003t0001g0070 a0004c0003t0001g0072 a0004c0003t0001g0074 a0004c0003t0001g0075 a0004c0003t0001g0076 a0004c0003t0001g0077 a0004c0003t0001g0078 a0004c0003t0001g0080 a0004c0003t0001g0111 a0004c0003t0001g0281 a0004c0003t0001g0282 a0004c0016t0001g0065 a0004c0016t0001g0073 a0007c0009t0001g0056 a0007c0009t0001g0089 a0007c0023t0001g0054 a0008c0015t0001g0083 a0008c0015t0001g0126 a0009c0020t0001g0024 a0009c0020t0001g0025 a0010c0012t0001g0224 a0010c0012t0001g0225 a0012c0013t0001g0202 a0012c0013t0001g0291 a0013c0017t0001g0114 a0013c0017t0001g0143 a0014c0026t0001g0165 a0014c0031t0001g0172 a0015c0021t0001g0112 a0016c0041t0001g0230 a0017c0034t0004g0014 a0018c0025t0004g0017 a0019c0022t0001g0093 a0020c0032t0001g0218 a0022c0033t0001g0071 a0023c0035t0001g0161	194	318	0.6101	0	c.214 others(6): Show c.2145+7A>G		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	10/17				chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240520362	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19005.hp1 NA19005.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0165 a0014c0026t0001g0165	1	318	0.0031	0	c.200 others(4): Show c.2004G>A	p.Gln others(6): Show p.Gln668Gln	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	9/18	2129/3405	2004/3093	668/1030	chr2	TogoVar
ANKMY2_chr7_16594779_16650754	16602376	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0012 a0008c0015t0012	a0008c0015t0012g0195 a0008c0015t0012g0195	1	400	0.0025	0	c.114 others(6): Show c.1141+4T>C		ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	9/9				chr7	TogoVar
ANKMY2_chr7_16594779_16650754	16636457	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp1 NA18948.hp2 NA18949.hp1 NA18956.hp2 NA18957.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0003 a0001c0007t0007	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0022 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0336 a0001c0001t0002g0159 a0001c0001t0002g0181 a0001c0001t0002g0197 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0359 a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0041 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0005g0360 a0001c0001t0013g0046 a0001c0001t0016g0292 a0001c0002t0001g0019 a0001c0002t0002g0167 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0163 a0001c0003t0004g0166 a0001c0003t0004g0275 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0293 a0001c0003t0004g0298 a0001c0003t0004g0302 a0001c0003t0004g0339 a0001c0003t0005g0162 a0001c0004t0001g0176 a0001c0004t0003g0323 a0001c0004t0003g0369 a0001c0007t0007g0220	78	398	0.1960	1	c.68- others(5): Show c.68-3dupT		ANKMY2	ENSG00000106524.9	transcript	ENST00000306999.7	protein_coding	1/9				chr7	TogoVar
ANKRA2_chr5_73547190_73570639	73552856	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 NA18959.hp2 NA18960.hp2 others(6): Show HG02071.hp1 NA18959.hp2 NA18960.hp2 NA18986.hp1 NA19003.hp2 NA19004.hp1 NA19054.hp2 NA19055.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0009 a0001c0001t0002g0048 a0001c0001t0015g0044 a0001c0001t0002g0009 a0001c0001t0002g0048 a0001c0001t0015g0044	9	390	0.0231	0	c.887 others(5): Show c.887-4C>G		ANKRA2	ENSG00000164331.10	transcript	ENST00000296785.8	protein_coding	8/8				chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89268667	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0001 a0003c0031t0001	a0003c0031t0001g0041 a0003c0031t0001g0041	1	308	0.0032	0	c.780 others(6): Show c.7807-4G>A		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	12/12				chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89290618	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0003 a0034c0052t0003	a0034c0052t0003g0121 a0034c0052t0003g0121	1	308	0.0032	0	c.601 others(5): Show c.601+7A>G		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	6/12				chr16	TogoVar
ANKRD13A_chr12_109994430_110044763	109999792	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19054.hp2 NA19074.hp2 NA19088.hp2 NA19054.hp2 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	3	272	0.0110	0	c.96+ others(4): Show c.96+8G>A		ANKRD13A	ENSG00000076513.17	transcript	ENST00000261739.9	protein_coding	1/14				chr12	TogoVar
ANKRD13D_chr11_67284303_67307484	67301145	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0136 a0004c0016t0001g0136	1	332	0.0030	0	c.122 others(4): Show c.1229T>A	p.Ile others(6): Show p.Ile410Asn	ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/15	1387/2128	1229/1818	410/605	chr11	TogoVar
ANKRD13D_chr11_67284303_67307484	67301151	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0136 a0004c0016t0001g0136	1	332	0.0030	0	c.123 others(6): Show c.1231+4A>G		ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/14				chr11	TogoVar
ANKRD13D_chr11_67284303_67307484	67301153	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0136 a0004c0016t0001g0136	1	332	0.0030	0	c.123 others(6): Show c.1231+6A>G		ANKRD13D	ENSG00000172932.16	transcript	ENST00000511455.7	protein_coding	11/14				chr11	TogoVar
ANKRD16_chr10_5856616_5894893	5862698	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(58): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18612.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA19001.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19068.hp1 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0013 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0003t0001 a0002c0003t0003 a0002c0003t0019 a0002c0013t0001 a0003c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0252 others(50): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0310 a0001c0001t0007g0216 a0001c0010t0001g0225 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0089 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0002t0007g0071 a0002c0002t0007g0092 a0002c0002t0013g0013 a0002c0002t0013g0091 a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0093 a0002c0003t0001g0235 a0002c0003t0003g0080 a0002c0003t0019g0348 a0002c0003t0019g0349 a0002c0013t0001g0088 a0003c0004t0001g0038	61	390	0.1564	0	c.34 others(5): Show c.34-7T>C		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	7/7				chr10	TogoVar
ANKRD16_chr10_5856616_5894893	5883966	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0258 a0004c0005t0006g0258	1	390	0.0026	0	c.687 others(5): Show c.687+3A>G		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	4/7				chr10	TogoVar
ANKRD16_chr10_5856616_5894893	5889036	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	390	0.0026	0	c.314 others(5): Show c.314+5G>A		ANKRD16	ENSG00000134461.16	transcript	ENST00000380094.10	protein_coding	1/7				chr10	TogoVar
ANKRD17_chr4_73068376_73263798	73124906	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	290	0.0034	0	c.349 others(6): Show c.3492+7T>C		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	18/33				chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73144838	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01515.hp1 HG02895.hp1 others(4): Show HG01256.hp2 HG01515.hp1 HG02895.hp1 HG02895.hp2 NA19002.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0003 a0001c0007t0001 a0001c0001t0001 a0001c0003t0003 a0001c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0003t0003g0255 a0001c0007t0001g0023	7	290	0.0241	-1	c.187 others(7): Show c.1870-7delT		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	10/33				chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73156171	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	290	0.0034	0	c.705 others(5): Show c.705-5A>C		ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33				chr4	TogoVar
ANKRD18A_chr9_38566364_38625596	38572059	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0002 a0034c0033t0002	a0034c0033t0002g0207 a0034c0033t0002g0207	1	400	0.0025	0	c.296 others(4): Show c.2965G>T	p.Val others(6): Show p.Val989Phe	ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	16/16	3276/3971	2965/2979	989/992	chr9	TogoVar
ANKRD18A_chr9_38566364_38625596	38578156	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01243.hp2 HG02451.hp1 others(18): Show HG01109.hp1 HG01243.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0017 a0020	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0017c0021 a0020c0018	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0003c0003t0017 a0006c0006t0003 a0006c0006t0020 a0017c0021t0003 a0020c0018t0001 a0020c0018t0003	a0001c0001t0001g0195 a0001c0001t0001g0268 a0001c0001t0001g0346 others(17): Show a0001c0001t0001g0195 a0001c0001t0001g0268 a0001c0001t0001g0346 a0001c0001t0003g0282 a0001c0001t0003g0319 a0001c0001t0003g0353 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0003g0142 a0002c0002t0003g0160 a0002c0002t0003g0163 a0002c0002t0006g0115 a0003c0003t0017g0310 a0006c0006t0003g0316 a0006c0006t0020g0366 a0017c0021t0003g0019 a0020c0018t0001g0321 a0020c0018t0003g0301	21	400	0.0525	0	c.224 others(6): Show c.2248-8T>C		ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	12/15				chr9	TogoVar
ANKRD18A_chr9_38566364_38625596	38620072	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03098.hp2 HG06807.hp1 HG03041.hp1 HG03098.hp2 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0018 a0003c0003t0011 a0003c0003t0018	a0003c0003t0011g0358 a0003c0003t0011g0360 a0003c0003t0018g0359 a0003c0003t0011g0358 a0003c0003t0011g0360 a0003c0003t0018g0359	3	400	0.0075	0	c.206 others(5): Show c.206+8G>C		ANKRD18A	ENSG00000180071.21	transcript	ENST00000399703.6	protein_coding	1/15				chr9	TogoVar
ANKRD18B_chr9_33519251_33578013	33524699	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02451.hp2 HG02572.hp2 others(1): Show HG01255.hp2 HG02451.hp2 HG02572.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0015 a0002c0003 a0002c0015	a0002c0003t0002 a0002c0015t0002 a0002c0003t0002 a0002c0015t0002	a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 others(1): Show a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0015t0002g0038	4	372	0.0108	0	c.206 others(5): Show c.206+4G>A		ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	1/18				chr9	TogoVar
ANKRD18B_chr9_33519251_33578013	33524700	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG02451.hp2 HG02572.hp2 others(1): Show HG01255.hp2 HG02451.hp2 HG02572.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0015 a0002c0003 a0002c0015	a0002c0003t0002 a0002c0015t0002 a0002c0003t0002 a0002c0015t0002	a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 others(1): Show a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0015t0002g0038	4	372	0.0108	0	c.206 others(5): Show c.206+5C>A		ANKRD18B	ENSG00000230453.11	transcript	ENST00000684830.1	protein_coding	1/18				chr9	TogoVar

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