Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ABCC6_chr16_16144565_16228494	16198126	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(93): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0008 a0009 a0012 a0013 a0014 a0015 a0020 a0030 a0044	a0001c0004 a0001c0006 a0001c0023 others(24): Show a0001c0004 a0001c0006 a0001c0023 a0001c0026 a0001c0028 a0001c0049 a0001c0052 a0001c0072 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0003c0007 a0003c0021 a0003c0071 a0005c0048 a0008c0011 a0009c0042 a0009c0045 a0012c0050 a0013c0025 a0014c0018 a0015c0019 a0020c0027 a0030c0046 a0044c0044	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(27): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0009 a0001c0023t0001 a0001c0026t0001 a0001c0028t0001 a0001c0049t0001 a0001c0052t0001 a0001c0072t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0005c0048t0001 a0008c0011t0003 a0009c0042t0001 a0009c0045t0001 a0012c0050t0001 a0013c0025t0001 a0014c0018t0001 a0015c0019t0001 a0020c0027t0007 a0030c0046t0001 a0044c0044t0001	a0001c0004t0001g0006 a0001c0004t0001g0034 a0001c0004t0001g0037 others(93): Show a0001c0004t0001g0006 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0065 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0163 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0220 a0001c0004t0001g0263 a0001c0004t0002g0105 a0001c0004t0002g0134 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0006t0001g0190 a0001c0006t0001g0276 a0001c0006t0001g0277 a0001c0006t0001g0278 a0001c0006t0001g0286 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0329 a0001c0006t0001g0330 a0001c0006t0002g0246 a0001c0006t0009g0285 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0026t0001g0096 a0001c0026t0001g0272 a0001c0028t0001g0279 a0001c0028t0001g0295 a0001c0049t0001g0352 a0001c0052t0001g0283 a0001c0072t0001g0356 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0153 a0002c0024t0001g0155 a0002c0051t0001g0353 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0101 a0003c0007t0001g0102 a0003c0007t0001g0104 a0003c0007t0001g0109 a0003c0007t0001g0110 a0003c0007t0001g0210 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0005c0048t0001g0063 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0008c0011t0003g0061 a0008c0011t0003g0062 a0008c0011t0003g0091 a0009c0042t0001g0099 a0009c0045t0001g0106 a0012c0050t0001g0040 a0013c0025t0001g0007 a0013c0025t0001g0008 a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252 a0015c0019t0001g0122 a0015c0019t0001g0125 a0015c0019t0001g0126 a0020c0027t0007g0293 a0020c0027t0007g0294 a0030c0046t0001g0304 a0044c0044t0001g0302	96	356	0.2697	c.123 others(4): Show c.1233T>C	p.Asn others(6): Show p.Asn411Asn	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	10/31	1293/5140	1233/4512	411/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16198144	C C	T T	synonymous_variant synonymous_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0236 a0001c0043t0001g0236	1	356	0.0028	c.121 others(4): Show c.1215G>A	p.Ala others(6): Show p.Ala405Ala	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	10/31	1275/5140	1215/4512	405/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16202100	T T	C C	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02976.hp2 HG03579.hp2 others(3): Show HG02451.hp2 HG02976.hp2 HG03579.hp2 HG04204.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0027	a0001c0033 a0001c0072 a0002c0074 others(2): Show a0001c0033 a0001c0072 a0002c0074 a0003c0071 a0027c0073	a0001c0033t0001 a0001c0033t0002 a0001c0072t0001 others(3): Show a0001c0033t0001 a0001c0033t0002 a0001c0072t0001 a0002c0074t0001 a0003c0071t0001 a0027c0073t0001	a0001c0033t0001g0070 a0001c0033t0002g0196 a0001c0072t0001g0356 others(3): Show a0001c0033t0001g0070 a0001c0033t0002g0196 a0001c0072t0001g0356 a0002c0074t0001g0186 a0003c0071t0001g0035 a0027c0073t0001g0016	6	356	0.0169	c.107 others(4): Show c.1077A>G	p.Ser others(6): Show p.Ser359Ser	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	9/31	1137/5140	1077/4512	359/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16203415	C C	A A	synonymous_variant synonymous_variant	LOW	HG02897.hp1 HG03453.hp2 NA20129.hp1 HG02897.hp1 HG03453.hp2 NA20129.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0055 a0012c0020t0001g0056 a0012c0020t0001g0057 a0012c0020t0001g0055 a0012c0020t0001g0056 a0012c0020t0001g0057	3	356	0.0084	c.993 others(3): Show c.993G>T	p.Leu others(6): Show p.Leu331Leu	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	8/31	1053/5140	993/4512	331/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16212202	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG01361.hp2 HG01516.hp2 others(2): Show HG00280.hp2 HG01361.hp2 HG01516.hp2 HG03490.hp1 HG03492.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0023 a0002c0022 a0009c0042 a0001c0023 a0002c0022 a0009c0042	a0001c0023t0001 a0002c0022t0001 a0009c0042t0001 a0001c0023t0001 a0002c0022t0001 a0009c0042t0001	a0001c0023t0001g0066 a0001c0023t0001g0100 a0002c0022t0001g0095 others(2): Show a0001c0023t0001g0066 a0001c0023t0001g0100 a0002c0022t0001g0095 a0002c0022t0001g0345 a0009c0042t0001g0099	5	356	0.0140	c.645 others(3): Show c.645G>A	p.Thr others(6): Show p.Thr215Thr	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	6/31	705/5140	645/4512	215/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16221678	G G	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0021t0001g0011 a0003c0021t0001g0012	2	356	0.0056	c.190 others(3): Show c.190C>A	p.Arg others(5): Show p.Arg64Arg	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	2/31	250/5140	190/4512	64/1503	chr16	TogoVar
ABCC8_chr11_17387885_17481845	17393009	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG02109.hp2 HG02258.hp2 HG03195.hp2 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0035 a0001c0071 a0001c0076 others(1): Show a0001c0035 a0001c0071 a0001c0076 a0015c0055	a0001c0035t0002 a0001c0071t0001 a0001c0076t0002 others(1): Show a0001c0035t0002 a0001c0071t0001 a0001c0076t0002 a0015c0055t0001	a0001c0035t0002g0013 a0001c0071t0001g0071 a0001c0076t0002g0007 others(1): Show a0001c0035t0002g0013 a0001c0071t0001g0071 a0001c0076t0002g0007 a0015c0055t0001g0078	4	328	0.0122	c.472 others(4): Show c.4728C>T	p.Phe others(7): Show p.Phe1576Phe	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	39/39	4797/4921	4728/4746	1576/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17393081	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0166 a0001c0046t0001g0166	1	328	0.0030	c.465 others(4): Show c.4656G>A	p.Lys others(7): Show p.Lys1552Lys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	39/39	4725/4921	4656/4746	1552/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17394269	G G	T T	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG02451.hp2 HG00639.hp1 HG02451.hp2	a0001 a0001	a0001c0061 a0001c0077 a0001c0061 a0001c0077	a0001c0061t0001 a0001c0077t0001 a0001c0061t0001 a0001c0077t0001	a0001c0061t0001g0311 a0001c0077t0001g0313 a0001c0061t0001g0311 a0001c0077t0001g0313	2	328	0.0061	c.454 others(4): Show c.4542C>A	p.Ala others(7): Show p.Ala1514Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	37/39	4611/4921	4542/4746	1514/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17395910	G G	C C	synonymous_variant synonymous_variant	LOW	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0001 a0002c0064t0001	a0002c0064t0001g0315 a0002c0064t0001g0315	1	328	0.0030	c.414 others(4): Show c.4140C>G	p.Thr others(7): Show p.Thr1380Thr	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	34/39	4209/4921	4140/4746	1380/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17396919	C C	T T	synonymous_variant synonymous_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0116 a0001c0051t0001g0116	1	328	0.0030	c.411 others(4): Show c.4116G>A	p.Gln others(7): Show p.Gln1372Gln	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	33/39	4185/4921	4116/4746	1372/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17397732	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(129): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18971.hp2 NA18986.hp2 NA18987.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0007 a0008 a0010 a0011 a0013 a0015	a0001c0004 a0001c0006 a0001c0008 others(36): Show a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0031 a0001c0035 a0001c0043 a0001c0046 a0001c0049 a0001c0053 a0001c0058 a0001c0059 a0001c0061 a0001c0062 a0001c0065 a0001c0068 a0001c0070 a0001c0071 a0001c0076 a0001c0077 a0001c0079 a0001c0081 a0002c0045 a0005c0048 a0007c0067 a0008c0072 a0010c0056 a0011c0057 a0013c0066 a0015c0055	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(42): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0010t0002 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0021t0001 a0001c0021t0003 a0001c0022t0001 a0001c0025t0001 a0001c0026t0001 a0001c0026t0004 a0001c0031t0001 a0001c0035t0002 a0001c0043t0001 a0001c0046t0001 a0001c0049t0001 a0001c0053t0001 a0001c0058t0001 a0001c0059t0001 a0001c0061t0001 a0001c0062t0001 a0001c0065t0001 a0001c0068t0001 a0001c0070t0002 a0001c0071t0001 a0001c0076t0002 a0001c0077t0001 a0001c0079t0001 a0001c0081t0001 a0002c0045t0001 a0005c0048t0001 a0007c0067t0001 a0008c0072t0001 a0010c0056t0002 a0011c0057t0001 a0013c0066t0001 a0015c0055t0001	a0001c0004t0001g0144 a0001c0004t0001g0178 a0001c0004t0001g0187 others(127): Show a0001c0004t0001g0144 a0001c0004t0001g0178 a0001c0004t0001g0187 a0001c0004t0001g0216 a0001c0004t0001g0223 a0001c0004t0001g0227 a0001c0004t0001g0232 a0001c0004t0001g0250 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0001g0269 a0001c0004t0001g0270 a0001c0004t0001g0293 a0001c0004t0001g0296 a0001c0004t0002g0012 a0001c0006t0001g0044 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0006t0001g0107 a0001c0006t0001g0278 a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0041 a0001c0008t0001g0042 a0001c0008t0001g0047 a0001c0008t0001g0081 a0001c0008t0001g0140 a0001c0008t0001g0157 a0001c0008t0001g0165 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0150 a0001c0009t0001g0201 a0001c0009t0001g0251 a0001c0009t0001g0268 a0001c0009t0001g0289 a0001c0009t0001g0290 a0001c0009t0001g0291 a0001c0009t0003g0015 a0001c0010t0001g0049 a0001c0010t0001g0135 a0001c0010t0001g0136 a0001c0010t0001g0142 a0001c0010t0001g0143 a0001c0010t0001g0191 a0001c0010t0001g0192 a0001c0010t0001g0194 a0001c0010t0001g0203 a0001c0010t0001g0298 a0001c0010t0002g0005 a0001c0014t0001g0032 a0001c0014t0001g0084 a0001c0014t0001g0168 a0001c0014t0001g0170 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0014t0002g0006 a0001c0014t0002g0009 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0017t0001g0003 a0001c0017t0001g0051 a0001c0017t0001g0070 a0001c0017t0001g0179 a0001c0017t0001g0186 a0001c0019t0001g0122 a0001c0019t0001g0280 a0001c0019t0001g0284 a0001c0019t0001g0304 a0001c0019t0001g0321 a0001c0021t0001g0138 a0001c0021t0001g0220 a0001c0021t0001g0231 a0001c0021t0003g0014 a0001c0022t0001g0072 a0001c0022t0001g0292 a0001c0022t0001g0294 a0001c0022t0001g0297 a0001c0025t0001g0055 a0001c0025t0001g0056 a0001c0025t0001g0075 a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 a0001c0031t0001g0241 a0001c0031t0001g0244 a0001c0035t0002g0013 a0001c0043t0001g0093 a0001c0046t0001g0166 a0001c0049t0001g0141 a0001c0053t0001g0158 a0001c0058t0001g0046 a0001c0059t0001g0206 a0001c0061t0001g0311 a0001c0062t0001g0261 a0001c0065t0001g0288 a0001c0068t0001g0048 a0001c0070t0002g0008 a0001c0071t0001g0071 a0001c0076t0002g0007 a0001c0077t0001g0313 a0001c0079t0001g0016 a0001c0081t0001g0017 a0002c0045t0001g0086 a0005c0048t0001g0169 a0007c0067t0001g0295 a0008c0072t0001g0053 a0010c0056t0002g0010 a0011c0057t0001g0089 a0013c0066t0001g0174 a0015c0055t0001g0078	132	328	0.4024	c.381 others(4): Show c.3819G>A	p.Arg others(7): Show p.Arg1273Arg	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	31/39	3888/4921	3819/4746	1273/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17402699	G G	A A	synonymous_variant synonymous_variant	LOW	HG01070.hp2 HG01255.hp2 HG01258.hp1 others(6): Show HG01070.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02293.hp1 HG02300.hp2	a0001 a0001	a0001c0019 a0001c0031 a0001c0059 others(1): Show a0001c0019 a0001c0031 a0001c0059 a0001c0062	a0001c0019t0001 a0001c0031t0001 a0001c0059t0001 others(1): Show a0001c0019t0001 a0001c0031t0001 a0001c0059t0001 a0001c0062t0001	a0001c0019t0001g0122 a0001c0019t0001g0280 a0001c0019t0001g0284 others(6): Show a0001c0019t0001g0122 a0001c0019t0001g0280 a0001c0019t0001g0284 a0001c0019t0001g0304 a0001c0019t0001g0321 a0001c0031t0001g0241 a0001c0031t0001g0244 a0001c0059t0001g0206 a0001c0062t0001g0261	9	328	0.0274	c.361 others(4): Show c.3612C>T	p.Ala others(7): Show p.Ala1204Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	29/39	3681/4921	3612/4746	1204/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17404634	G G	A A	synonymous_variant synonymous_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0158 a0001c0053t0001g0158	1	328	0.0030	c.343 others(4): Show c.3435C>T	p.Ser others(7): Show p.Ser1145Ser	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	28/39	3504/4921	3435/4746	1145/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17407011	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0001 a0002c0060t0001	a0002c0060t0001g0209 a0002c0060t0001g0209	1	328	0.0030	c.303 others(4): Show c.3039G>A	p.Ser others(7): Show p.Ser1013Ser	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	25/39	3108/4921	3039/4746	1013/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17407050	G G	A A	synonymous_variant synonymous_variant	LOW	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0112 a0002c0047t0001g0112	1	328	0.0030	c.300 others(4): Show c.3000C>T	p.Cys others(7): Show p.Cys1000Cys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	25/39	3069/4921	3000/4746	1000/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17407092	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02451.hp1 NA18522.hp2 HG02280.hp2 HG02451.hp1 NA18522.hp2	a0001 a0001	a0001c0065 a0001c0068 a0001c0081 a0001c0065 a0001c0068 a0001c0081	a0001c0065t0001 a0001c0068t0001 a0001c0081t0001 a0001c0065t0001 a0001c0068t0001 a0001c0081t0001	a0001c0065t0001g0288 a0001c0068t0001g0048 a0001c0081t0001g0017 a0001c0065t0001g0288 a0001c0068t0001g0048 a0001c0081t0001g0017	3	328	0.0091	c.295 others(4): Show c.2958G>A	p.Ser others(6): Show p.Ser986Ser	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	25/39	3027/4921	2958/4746	986/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17410600	G G	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0002 a0001c0070t0002	a0001c0070t0002g0008 a0001c0070t0002g0008	1	328	0.0030	c.261 others(4): Show c.2610C>T	p.Ala others(6): Show p.Ala870Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	22/39	2679/4921	2610/4746	870/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17412684	G G	A A	synonymous_variant synonymous_variant	LOW	HG03195.hp2 NA19240.hp1 HG03195.hp2 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0071 a0015c0055 a0001c0071 a0015c0055	a0001c0071t0001 a0015c0055t0001 a0001c0071t0001 a0015c0055t0001	a0001c0071t0001g0071 a0015c0055t0001g0078 a0001c0071t0001g0071 a0015c0055t0001g0078	2	328	0.0061	c.253 others(4): Show c.2538C>T	p.His others(6): Show p.His846His	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	21/39	2607/4921	2538/4746	846/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17412737	G G	A A	synonymous_variant synonymous_variant	LOW	HG00423.hp1 HG00621.hp1 HG00642.hp1 others(40): Show HG00423.hp1 HG00621.hp1 HG00642.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp2 NA18967.hp2 NA18987.hp1 NA19030.hp2 NA19043.hp2 NA19067.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0010	a0001c0014 a0001c0015 a0001c0017 others(10): Show a0001c0014 a0001c0015 a0001c0017 a0001c0022 a0001c0024 a0001c0075 a0002c0018 a0002c0054 a0003c0032 a0003c0063 a0005c0048 a0007c0067 a0010c0056	a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 others(11): Show a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0017t0001 a0001c0022t0001 a0001c0024t0001 a0001c0075t0001 a0002c0018t0001 a0002c0054t0001 a0003c0032t0001 a0003c0063t0001 a0005c0048t0001 a0007c0067t0001 a0010c0056t0002	a0001c0014t0001g0032 a0001c0014t0001g0084 a0001c0014t0001g0168 others(39): Show a0001c0014t0001g0032 a0001c0014t0001g0084 a0001c0014t0001g0168 a0001c0014t0001g0170 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0014t0002g0006 a0001c0014t0002g0009 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0017t0001g0003 a0001c0017t0001g0051 a0001c0017t0001g0070 a0001c0017t0001g0179 a0001c0017t0001g0186 a0001c0022t0001g0072 a0001c0022t0001g0292 a0001c0022t0001g0294 a0001c0022t0001g0297 a0001c0024t0001g0153 a0001c0024t0001g0154 a0001c0024t0001g0264 a0001c0075t0001g0034 a0002c0018t0001g0188 a0002c0018t0001g0190 a0002c0018t0001g0193 a0002c0018t0001g0196 a0002c0018t0001g0198 a0002c0018t0001g0200 a0002c0054t0001g0132 a0003c0032t0001g0195 a0003c0032t0001g0199 a0003c0063t0001g0052 a0005c0048t0001g0169 a0007c0067t0001g0295 a0010c0056t0002g0010	43	328	0.1311	c.248 others(4): Show c.2485C>T	p.Leu others(6): Show p.Leu829Leu	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	21/39	2554/4921	2485/4746	829/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17415318	G G	A A	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0132 a0002c0054t0001g0132	1	328	0.0030	c.227 others(4): Show c.2277C>T	p.Thr others(6): Show p.Thr759Thr	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	18/39	2346/4921	2277/4746	759/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17427096	G G	A A	synonymous_variant synonymous_variant	LOW	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0001 a0004c0041t0001	a0004c0041t0001g0145 a0004c0041t0001g0145	1	328	0.0030	c.217 others(4): Show c.2175C>T	p.Ala others(6): Show p.Ala725Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	16/39	2244/4921	2175/4746	725/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428382	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(71): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG01106.hp1 HG01123.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18987.hp2 NA18994.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0013 a0014	a0001c0007 a0001c0009 a0001c0012 others(22): Show a0001c0007 a0001c0009 a0001c0012 a0001c0021 a0001c0023 a0001c0028 a0001c0031 a0001c0033 a0001c0043 a0001c0049 a0001c0051 a0001c0058 a0001c0059 a0001c0065 a0001c0076 a0001c0081 a0002c0011 a0002c0027 a0002c0030 a0002c0044 a0002c0050 a0004c0038 a0008c0072 a0013c0066 a0014c0037	a0001c0007t0001 a0001c0009t0001 a0001c0009t0003 others(24): Show a0001c0007t0001 a0001c0009t0001 a0001c0009t0003 a0001c0012t0001 a0001c0021t0001 a0001c0021t0003 a0001c0023t0001 a0001c0028t0001 a0001c0031t0001 a0001c0033t0001 a0001c0043t0001 a0001c0049t0001 a0001c0051t0001 a0001c0058t0001 a0001c0059t0001 a0001c0065t0001 a0001c0076t0002 a0001c0081t0001 a0002c0011t0001 a0002c0027t0001 a0002c0030t0001 a0002c0044t0001 a0002c0050t0001 a0004c0038t0001 a0008c0072t0001 a0013c0066t0001 a0014c0037t0001	a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 others(69): Show a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0007t0001g0129 a0001c0007t0001g0131 a0001c0007t0001g0139 a0001c0007t0001g0163 a0001c0007t0001g0310 a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0150 a0001c0009t0001g0201 a0001c0009t0001g0251 a0001c0009t0001g0268 a0001c0009t0001g0289 a0001c0009t0001g0290 a0001c0009t0001g0291 a0001c0009t0003g0015 a0001c0012t0001g0073 a0001c0012t0001g0151 a0001c0012t0001g0171 a0001c0012t0001g0210 a0001c0012t0001g0211 a0001c0012t0001g0212 a0001c0012t0001g0243 a0001c0012t0001g0252 a0001c0012t0001g0259 a0001c0021t0001g0138 a0001c0021t0001g0220 a0001c0021t0001g0231 a0001c0021t0003g0014 a0001c0023t0001g0031 a0001c0023t0001g0205 a0001c0023t0001g0253 a0001c0028t0001g0077 a0001c0028t0001g0159 a0001c0031t0001g0241 a0001c0031t0001g0244 a0001c0033t0001g0001 a0001c0043t0001g0093 a0001c0049t0001g0141 a0001c0051t0001g0116 a0001c0058t0001g0046 a0001c0059t0001g0206 a0001c0065t0001g0288 a0001c0076t0002g0007 a0001c0081t0001g0017 a0002c0011t0001g0062 a0002c0011t0001g0148 a0002c0011t0001g0149 a0002c0011t0001g0202 a0002c0011t0001g0208 a0002c0011t0001g0217 a0002c0011t0001g0245 a0002c0011t0001g0249 a0002c0011t0001g0263 a0002c0011t0001g0316 a0002c0027t0001g0027 a0002c0027t0001g0028 a0002c0027t0001g0029 a0002c0030t0001g0185 a0002c0030t0001g0300 a0002c0044t0001g0118 a0002c0050t0001g0099 a0004c0038t0001g0109 a0008c0072t0001g0053 a0013c0066t0001g0174 a0014c0037t0001g0104	74	328	0.2256	c.194 others(4): Show c.1947G>A	p.Lys others(6): Show p.Lys649Lys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	14/39	2016/4921	1947/4746	649/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428403	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp1 HG02818.hp1 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0079 a0001c0080 a0001c0079 a0001c0080	a0001c0079t0001 a0001c0080t0001 a0001c0079t0001 a0001c0080t0001	a0001c0079t0001g0016 a0001c0080t0001g0312 a0001c0079t0001g0016 a0001c0080t0001g0312	2	328	0.0061	c.192 others(4): Show c.1926C>G	p.Pro others(6): Show p.Pro642Pro	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	14/39	1995/4921	1926/4746	642/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17430864	C C	T T	synonymous_variant synonymous_variant	LOW	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0001 a0002c0064t0001	a0002c0064t0001g0315 a0002c0064t0001g0315	1	328	0.0030	c.176 others(4): Show c.1767G>A	p.Pro others(6): Show p.Pro589Pro	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	12/39	1836/4921	1767/4746	589/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17430945	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(136): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0008 a0013 a0014 a0015	a0001c0007 a0001c0008 a0001c0009 others(41): Show a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0031 a0001c0033 a0001c0034 a0001c0049 a0001c0051 a0001c0053 a0001c0058 a0001c0065 a0001c0068 a0001c0070 a0001c0071 a0001c0073 a0001c0075 a0001c0076 a0001c0077 a0001c0079 a0001c0080 a0002c0011 a0002c0016 a0002c0018 a0002c0027 a0002c0050 a0002c0054 a0002c0064 a0002c0074 a0002c0078 a0003c0032 a0006c0052 a0007c0067 a0008c0072 a0013c0066 a0014c0037 a0015c0055	a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 others(44): Show a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0010t0002 a0001c0012t0001 a0001c0013t0001 a0001c0020t0001 a0001c0022t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0026t0004 a0001c0031t0001 a0001c0033t0001 a0001c0034t0001 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0001c0065t0001 a0001c0068t0001 a0001c0070t0002 a0001c0071t0001 a0001c0073t0001 a0001c0075t0001 a0001c0076t0002 a0001c0077t0001 a0001c0079t0001 a0001c0080t0001 a0002c0011t0001 a0002c0016t0001 a0002c0018t0001 a0002c0027t0001 a0002c0050t0001 a0002c0054t0001 a0002c0064t0001 a0002c0074t0001 a0002c0078t0001 a0003c0032t0001 a0006c0052t0001 a0007c0067t0001 a0008c0072t0001 a0013c0066t0001 a0014c0037t0001 a0015c0055t0001	a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 others(133): Show a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0007t0001g0129 a0001c0007t0001g0131 a0001c0007t0001g0139 a0001c0007t0001g0163 a0001c0007t0001g0310 a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0041 a0001c0008t0001g0042 a0001c0008t0001g0047 a0001c0008t0001g0081 a0001c0008t0001g0140 a0001c0008t0001g0157 a0001c0008t0001g0165 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0150 a0001c0009t0001g0201 a0001c0009t0001g0251 a0001c0009t0001g0268 a0001c0009t0001g0289 a0001c0009t0001g0290 a0001c0009t0001g0291 a0001c0009t0003g0015 a0001c0010t0001g0049 a0001c0010t0001g0135 a0001c0010t0001g0136 a0001c0010t0001g0142 a0001c0010t0001g0143 a0001c0010t0001g0191 a0001c0010t0001g0192 a0001c0010t0001g0194 a0001c0010t0001g0203 a0001c0010t0001g0298 a0001c0010t0002g0005 a0001c0012t0001g0073 a0001c0012t0001g0151 a0001c0012t0001g0171 a0001c0012t0001g0210 a0001c0012t0001g0211 a0001c0012t0001g0212 a0001c0012t0001g0243 a0001c0012t0001g0252 a0001c0012t0001g0259 a0001c0013t0001g0064 a0001c0013t0001g0069 a0001c0013t0001g0152 a0001c0013t0001g0175 a0001c0013t0001g0189 a0001c0013t0001g0197 a0001c0013t0001g0242 a0001c0013t0001g0267 a0001c0013t0001g0314 a0001c0020t0001g0004 a0001c0020t0001g0043 a0001c0020t0001g0156 a0001c0020t0001g0319 a0001c0022t0001g0072 a0001c0022t0001g0292 a0001c0022t0001g0294 a0001c0022t0001g0297 a0001c0024t0001g0153 a0001c0024t0001g0154 a0001c0024t0001g0264 a0001c0025t0001g0055 a0001c0025t0001g0056 a0001c0025t0001g0075 a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 a0001c0031t0001g0241 a0001c0031t0001g0244 a0001c0033t0001g0001 a0001c0034t0001g0176 a0001c0034t0001g0177 a0001c0049t0001g0141 a0001c0051t0001g0116 a0001c0053t0001g0158 a0001c0058t0001g0046 a0001c0065t0001g0288 a0001c0068t0001g0048 a0001c0070t0002g0008 a0001c0071t0001g0071 a0001c0073t0001g0054 a0001c0075t0001g0034 a0001c0076t0002g0007 a0001c0077t0001g0313 a0001c0079t0001g0016 a0001c0080t0001g0312 a0002c0011t0001g0062 a0002c0011t0001g0148 a0002c0011t0001g0149 a0002c0011t0001g0202 a0002c0011t0001g0208 a0002c0011t0001g0217 a0002c0011t0001g0245 a0002c0011t0001g0249 a0002c0011t0001g0263 a0002c0011t0001g0316 a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0098 a0002c0016t0001g0276 a0002c0016t0001g0305 a0002c0016t0001g0306 a0002c0018t0001g0188 a0002c0018t0001g0190 a0002c0018t0001g0193 a0002c0018t0001g0196 a0002c0018t0001g0198 a0002c0018t0001g0200 a0002c0027t0001g0027 a0002c0027t0001g0028 a0002c0027t0001g0029 a0002c0050t0001g0099 a0002c0054t0001g0132 a0002c0064t0001g0315 a0002c0074t0001g0213 a0002c0078t0001g0299 a0003c0032t0001g0195 a0003c0032t0001g0199 a0006c0052t0001g0281 a0007c0067t0001g0295 a0008c0072t0001g0053 a0013c0066t0001g0174 a0014c0037t0001g0104 a0015c0055t0001g0078	139	328	0.4238	c.168 others(4): Show c.1686C>T	p.His others(6): Show p.His562His	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	12/39	1755/4921	1686/4746	562/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17442778	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02818.hp2 HG03130.hp2 others(1): Show HG02717.hp1 HG02818.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0026 a0001c0075 a0001c0026 a0001c0075	a0001c0026t0001 a0001c0026t0004 a0001c0075t0001 a0001c0026t0001 a0001c0026t0004 a0001c0075t0001	a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 others(1): Show a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 a0001c0075t0001g0034	4	328	0.0122	c.157 others(4): Show c.1572G>A	p.Thr others(6): Show p.Thr524Thr	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/39	1641/4921	1572/4746	524/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17453137	G G	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG03041.hp2 HG03516.hp1 others(2): Show HG02970.hp1 HG03041.hp2 HG03516.hp1 NA19240.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0025 a0001c0073 a0008c0072 a0001c0025 a0001c0073 a0008c0072	a0001c0025t0001 a0001c0073t0001 a0008c0072t0001 a0001c0025t0001 a0001c0073t0001 a0008c0072t0001	a0001c0025t0001g0055 a0001c0025t0001g0056 a0001c0025t0001g0075 others(2): Show a0001c0025t0001g0055 a0001c0025t0001g0056 a0001c0025t0001g0075 a0001c0073t0001g0054 a0008c0072t0001g0053	5	328	0.0152	c.115 others(4): Show c.1158C>T	p.Asn others(6): Show p.Asn386Asn	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/39	1227/4921	1158/4746	386/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17460554	G G	A A	synonymous_variant synonymous_variant	LOW	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0001 a0001c0081t0001	a0001c0081t0001g0017 a0001c0081t0001g0017	1	328	0.0030	c.945 others(3): Show c.945C>T	p.Ala others(6): Show p.Ala315Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	6/39	1014/4921	945/4746	315/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17461670	G G	A A	synonymous_variant synonymous_variant	LOW	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0001 a0002c0074t0001	a0002c0074t0001g0213 a0002c0074t0001g0213	1	328	0.0030	c.735 others(3): Show c.735C>T	p.Ile others(6): Show p.Ile245Ile	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	5/39	804/4921	735/4746	245/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17463594	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02886.hp2 HG02258.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0035 a0003c0036 a0001c0035 a0003c0036	a0001c0035t0002 a0003c0036t0001 a0001c0035t0002 a0003c0036t0001	a0001c0035t0002g0013 a0003c0036t0001g0045 a0001c0035t0002g0013 a0003c0036t0001g0045	2	328	0.0061	c.423 others(3): Show c.423G>A	p.Val others(6): Show p.Val141Val	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	4/39	492/4921	423/4746	141/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17470183	G G	A A	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG01123.hp2 HG01361.hp1 others(23): Show HG00639.hp1 HG01123.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 NA18522.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0001c0026 a0001c0033 others(10): Show a0001c0015 a0001c0026 a0001c0033 a0001c0034 a0001c0058 a0001c0075 a0001c0076 a0001c0077 a0001c0079 a0001c0080 a0001c0081 a0002c0027 a0002c0078	a0001c0015t0001 a0001c0026t0001 a0001c0026t0004 others(11): Show a0001c0015t0001 a0001c0026t0001 a0001c0026t0004 a0001c0033t0001 a0001c0034t0001 a0001c0058t0001 a0001c0075t0001 a0001c0076t0002 a0001c0077t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0002c0027t0001 a0002c0078t0001	a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 others(22): Show a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 a0001c0033t0001g0001 a0001c0034t0001g0176 a0001c0034t0001g0177 a0001c0058t0001g0046 a0001c0075t0001g0034 a0001c0076t0002g0007 a0001c0077t0001g0313 a0001c0079t0001g0016 a0001c0080t0001g0312 a0001c0081t0001g0017 a0002c0027t0001g0027 a0002c0027t0001g0028 a0002c0027t0001g0029 a0002c0078t0001g0299	26	328	0.0793	c.330 others(3): Show c.330C>T	p.Ala others(6): Show p.Ala110Ala	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/39	399/4921	330/4746	110/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17474969	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00408.hp2 HG00609.hp1 others(123): Show HG00140.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18971.hp2 NA18983.hp1 NA18995.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0003 a0001c0006 a0001c0007 others(32): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0019 a0001c0020 a0001c0028 a0001c0035 a0001c0043 a0001c0046 a0001c0049 a0001c0051 a0001c0053 a0001c0058 a0002c0005 a0002c0016 a0002c0044 a0002c0045 a0002c0047 a0002c0050 a0002c0054 a0003c0029 a0003c0036 a0004c0038 a0004c0040 a0004c0041 a0005c0048 a0006c0052 a0009c0042 a0010c0056 a0011c0057 a0012c0039 a0014c0037 a0015c0055	a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 others(34): Show a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0014t0002 a0001c0019t0001 a0001c0020t0001 a0001c0028t0001 a0001c0035t0002 a0001c0043t0001 a0001c0046t0001 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0002c0005t0001 a0002c0016t0001 a0002c0044t0001 a0002c0045t0001 a0002c0047t0001 a0002c0050t0001 a0002c0054t0001 a0003c0029t0001 a0003c0029t0002 a0003c0036t0001 a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 a0005c0048t0001 a0006c0052t0001 a0009c0042t0001 a0010c0056t0002 a0011c0057t0001 a0012c0039t0001 a0014c0037t0001 a0015c0055t0001	a0001c0003t0001g0030 a0001c0003t0001g0082 a0001c0003t0001g0085 others(122): Show a0001c0003t0001g0030 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0115 a0001c0003t0001g0119 a0001c0003t0001g0130 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0282 a0001c0003t0001g0302 a0001c0003t0001g0309 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0006t0001g0044 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0006t0001g0107 a0001c0006t0001g0278 a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0007t0001g0129 a0001c0007t0001g0131 a0001c0007t0001g0139 a0001c0007t0001g0163 a0001c0007t0001g0310 a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0041 a0001c0008t0001g0042 a0001c0008t0001g0047 a0001c0008t0001g0081 a0001c0008t0001g0140 a0001c0008t0001g0157 a0001c0008t0001g0165 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0014t0001g0032 a0001c0014t0001g0084 a0001c0014t0001g0168 a0001c0014t0001g0170 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0014t0002g0006 a0001c0014t0002g0009 a0001c0019t0001g0122 a0001c0019t0001g0280 a0001c0019t0001g0284 a0001c0019t0001g0304 a0001c0019t0001g0321 a0001c0020t0001g0004 a0001c0020t0001g0043 a0001c0020t0001g0156 a0001c0020t0001g0319 a0001c0028t0001g0077 a0001c0028t0001g0159 a0001c0035t0002g0013 a0001c0043t0001g0093 a0001c0046t0001g0166 a0001c0049t0001g0141 a0001c0051t0001g0116 a0001c0053t0001g0158 a0001c0058t0001g0046 a0002c0005t0001g0025 a0002c0005t0001g0026 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0113 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0161 a0002c0005t0001g0277 a0002c0005t0001g0279 a0002c0005t0001g0283 a0002c0005t0001g0301 a0002c0005t0001g0303 a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0098 a0002c0016t0001g0276 a0002c0016t0001g0305 a0002c0016t0001g0306 a0002c0044t0001g0118 a0002c0045t0001g0086 a0002c0047t0001g0112 a0002c0050t0001g0099 a0002c0054t0001g0132 a0003c0029t0001g0325 a0003c0029t0002g0011 a0003c0036t0001g0045 a0004c0038t0001g0109 a0004c0040t0001g0114 a0004c0041t0001g0145 a0005c0048t0001g0169 a0006c0052t0001g0281 a0009c0042t0001g0124 a0010c0056t0002g0010 a0011c0057t0001g0089 a0012c0039t0001g0108 a0014c0037t0001g0104 a0015c0055t0001g0078	126	328	0.3841	c.207 others(3): Show c.207T>C	p.Pro others(5): Show p.Pro69Pro	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	2/39	276/4921	207/4746	69/1581	chr11	TogoVar
ABCC9_chr12_21792389_21946426	21801158	C C	T T	synonymous_variant synonymous_variant	LOW	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0055 a0001c0010t0001g0055	1	210	0.0048	c.453 others(4): Show c.4536G>A	p.Thr others(7): Show p.Thr1512Thr	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	40/40	4899/8668	4536/4650	1512/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21842430	C C	T T	synonymous_variant synonymous_variant	LOW	NA18977.hp2 NA18992.hp2 NA19063.hp2 NA18977.hp2 NA18992.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0119 a0001c0004t0001g0135 a0001c0004t0001g0103 a0001c0004t0001g0119 a0001c0004t0001g0135	3	210	0.0143	c.335 others(4): Show c.3357G>A	p.Leu others(7): Show p.Leu1119Leu	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	29/40	3720/8668	3357/4650	1119/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21842466	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02976.hp2 HG03098.hp2 others(1): Show HG02572.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0009 a0001c0003t0015 a0001c0003t0007 a0001c0003t0009 a0001c0003t0015	a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0009g0209 others(1): Show a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0009g0209 a0001c0003t0015g0173	4	210	0.0190	c.332 others(4): Show c.3321C>T	p.Ile others(7): Show p.Ile1107Ile	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	29/40	3684/8668	3321/4650	1107/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21848154	G G	A A	synonymous_variant synonymous_variant	LOW	NA18981.hp1 NA19063.hp1 NA19090.hp2 NA18981.hp1 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0016 a0001c0005t0001g0025 a0001c0005t0001g0006 a0001c0005t0001g0016 a0001c0005t0001g0025	3	210	0.0143	c.286 others(4): Show c.2862C>T	p.Asp others(6): Show p.Asp954Asp	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	25/40	3225/8668	2862/4650	954/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21852380	C C	T T	synonymous_variant synonymous_variant	LOW	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0101 a0001c0009t0001g0101	1	210	0.0048	c.263 others(4): Show c.2631G>A	p.Thr others(6): Show p.Thr877Thr	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	23/40	2994/8668	2631/4650	877/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21887889	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02965.hp1 HG02965.hp2 others(3): Show HG02055.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0022 a0004c0012t0001	a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0004g0183 others(3): Show a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0004g0183 a0001c0002t0011g0002 a0001c0002t0022g0182 a0004c0012t0001g0195	6	210	0.0286	c.184 others(4): Show c.1848C>T	p.Asp others(6): Show p.Asp616Asp	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	15/40	2211/8668	1848/4650	616/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21913031	A A	T T	synonymous_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0179 a0001c0008t0001g0179	1	210	0.0048	c.852 others(3): Show c.852T>A	p.Ser others(6): Show p.Ser284Ser	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	8/40	1215/8668	852/4650	284/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915695	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG03195.hp1 HG03453.hp2 HG02647.hp2 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0005 a0001c0006t0001 a0001c0006t0005	a0001c0006t0001g0042 a0001c0006t0001g0191 a0001c0006t0005g0192 a0001c0006t0001g0042 a0001c0006t0001g0191 a0001c0006t0005g0192	3	210	0.0143	c.789 others(3): Show c.789C>T	p.Cys others(6): Show p.Cys263Cys	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/40	1152/8668	789/4650	263/1549	chr12	TogoVar
ABCD1_chrX_153719856_153749755	153725737	A A	G G	synonymous_variant synonymous_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0077 a0001c0009t0003g0077	1	283	0.0035	c.471 others(3): Show c.471A>G	p.Gln others(6): Show p.Gln157Gln	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	882/3669	471/2238	157/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153729378	C C	A A	synonymous_variant synonymous_variant	LOW	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0006 a0001c0004t0004g0006	1	283	0.0035	c.104 others(4): Show c.1047C>A	p.Val others(6): Show p.Val349Val	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	2/10	1458/3669	1047/2238	349/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153736419	C C	T T	synonymous_variant synonymous_variant	LOW	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	283	0.0035	c.129 others(4): Show c.1299C>T	p.His others(6): Show p.His433His	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	4/10	1710/3669	1299/2238	433/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153740151	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00741.hp2 HG01175.hp1 others(16): Show HG00280.hp1 HG00741.hp2 HG01175.hp1 HG02523.hp1 HG02683.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18979.hp1 NA18979.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0004 a0001c0004t0004 a0001c0002t0003 a0001c0002t0004 a0001c0004t0004	a0001c0002t0003g0070 a0001c0002t0004g0006 a0001c0002t0004g0018 others(8): Show a0001c0002t0003g0070 a0001c0002t0004g0006 a0001c0002t0004g0018 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0004t0004g0006	19	283	0.0671	c.154 others(4): Show c.1548G>A	p.Leu others(6): Show p.Leu516Leu	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	6/10	1959/3669	1548/2238	516/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153743516	C C	T T	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	283	0.0035	c.201 others(4): Show c.2019C>T	p.Phe others(6): Show p.Phe673Phe	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	10/10	2430/3669	2019/2238	673/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153743609	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	283	0.0035	c.211 others(4): Show c.2112G>A	p.Ala others(6): Show p.Ala704Ala	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	10/10	2523/3669	2112/2238	704/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153743687	G G	C C	synonymous_variant synonymous_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	283	0.0035	c.219 others(4): Show c.2190G>C	p.Pro others(6): Show p.Pro730Pro	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	10/10	2601/3669	2190/2238	730/745	chrX	TogoVar
ABCD2_chr12_39545033_39624803	39553936	A A	G G	synonymous_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0087 a0001c0007t0007g0087	1	338	0.0030	c.219 others(4): Show c.2199T>C	p.Ile others(6): Show p.Ile733Ile	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	10/10	2387/6290	2199/2223	733/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39554083	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0062 a0001c0008t0006g0062	1	338	0.0030	c.205 others(4): Show c.2052C>T	p.Arg others(6): Show p.Arg684Arg	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	10/10	2240/6290	2052/2223	684/740	chr12	TogoVar

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