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	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
AEBP1_chr7_44099345_44119560	44114181	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(147): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0014	a0002c0003 a0002c0005 a0002c0006 others(12): Show a0002c0003 a0002c0005 a0002c0006 a0002c0020 a0002c0022 a0002c0023 a0002c0025 a0004c0007 a0004c0011 a0005c0008 a0006c0009 a0007c0014 a0009c0015 a0010c0024 a0014c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 others(17): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0006 a0002c0020t0002 a0002c0022t0001 a0002c0023t0002 a0002c0025t0001 a0004c0007t0001 a0004c0011t0001 a0005c0008t0001 a0006c0009t0001 a0006c0009t0003 a0007c0014t0001 a0009c0015t0001 a0010c0024t0003 a0014c0016t0001	a0002c0003t0001g0010 a0002c0003t0001g0023 a0002c0003t0002g0003 others(35): Show a0002c0003t0001g0010 a0002c0003t0001g0023 a0002c0003t0002g0003 a0002c0003t0002g0028 a0002c0003t0002g0032 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0052 a0002c0003t0007g0003 a0002c0005t0001g0005 a0002c0005t0001g0015 a0002c0005t0001g0017 a0002c0005t0001g0041 a0002c0005t0002g0003 a0002c0005t0002g0014 a0002c0006t0001g0005 a0002c0006t0001g0039 a0002c0006t0001g0043 a0002c0006t0006g0005 a0002c0020t0002g0003 a0002c0022t0001g0060 a0002c0023t0002g0003 a0002c0025t0001g0005 a0004c0007t0001g0007 a0004c0007t0001g0012 a0004c0007t0001g0027 a0004c0007t0001g0034 a0004c0011t0001g0022 a0005c0008t0001g0005 a0005c0008t0001g0006 a0005c0008t0001g0029 a0006c0009t0001g0016 a0006c0009t0001g0038 a0006c0009t0003g0030 a0007c0014t0001g0023 a0009c0015t0001g0006 a0010c0024t0003g0030 a0014c0016t0001g0042	150	424	0.3538	c.339 others(4): Show c.3397A>G	p.Lys others(7): Show p.Lys1133Glu	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3718/4097	3397/3477	1133/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44114226	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp2 HG02148.hp1 HG01257.hp2 HG02148.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0023 a0007c0014t0001g0023	2	424	0.0047	c.344 others(4): Show c.3442G>A	p.Val others(7): Show p.Val1148Ile	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3763/4097	3442/3477	1148/1158	chr7	TogoVar
AEN_chr15_88616340_88637281	88626253	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00733.hp1 HG01109.hp2 others(27): Show HG00639.hp1 HG00733.hp1 HG01109.hp2 HG01346.hp2 HG01515.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0004 a0005 a0006 others(1): Show a0004 a0005 a0006 a0009	a0004c0005 a0004c0018 a0004c0019 others(4): Show a0004c0005 a0004c0018 a0004c0019 a0004c0020 a0005c0006 a0006c0007 a0009c0017	a0004c0005t0005 a0004c0005t0007 a0004c0005t0032 others(8): Show a0004c0005t0005 a0004c0005t0007 a0004c0005t0032 a0004c0005t0043 a0004c0018t0041 a0004c0019t0001 a0004c0020t0037 a0005c0006t0006 a0005c0006t0033 a0006c0007t0006 a0009c0017t0006	a0004c0005t0005g0011 a0004c0005t0007g0008 a0004c0005t0007g0020 others(12): Show a0004c0005t0005g0011 a0004c0005t0007g0008 a0004c0005t0007g0020 a0004c0005t0007g0042 a0004c0005t0032g0008 a0004c0005t0043g0011 a0004c0018t0041g0047 a0004c0019t0001g0063 a0004c0020t0037g0045 a0005c0006t0006g0004 a0005c0006t0006g0062 a0005c0006t0033g0004 a0006c0007t0006g0032 a0006c0007t0006g0064 a0009c0017t0006g0061	30	438	0.0685	c.44C others(2): Show c.44C>T	p.Pro others(5): Show p.Pro15Leu	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	151/3072	44/978	15/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626342	G G	A A	missense_variant missense_variant	MODERATE	NA19056.hp2 NA19056.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0001	a0012c0010t0001g0003 a0012c0010t0001g0003	1	438	0.0023	c.133 others(3): Show c.133G>A	p.Ala others(5): Show p.Ala45Thr	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	240/3072	133/978	45/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626472	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01257.hp1 others(25): Show HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA18954.hp2 NA19003.hp2 NA19070.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0015 a0003c0004 a0003c0015	a0003c0004t0001 a0003c0004t0012 a0003c0004t0014 others(3): Show a0003c0004t0001 a0003c0004t0012 a0003c0004t0014 a0003c0004t0017 a0003c0004t0021 a0003c0015t0007	a0003c0004t0001g0007 a0003c0004t0001g0023 a0003c0004t0001g0026 others(9): Show a0003c0004t0001g0007 a0003c0004t0001g0023 a0003c0004t0001g0026 a0003c0004t0001g0038 a0003c0004t0001g0041 a0003c0004t0012g0021 a0003c0004t0012g0044 a0003c0004t0012g0080 a0003c0004t0014g0010 a0003c0004t0017g0017 a0003c0004t0021g0015 a0003c0015t0007g0037	28	438	0.0639	c.263 others(3): Show c.263C>G	p.Ser others(5): Show p.Ser88Cys	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	370/3072	263/978	88/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626627	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(317): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012	a0001c0001 a0001c0003 a0001c0009 others(14): Show a0001c0001 a0001c0003 a0001c0009 a0001c0013 a0003c0004 a0003c0015 a0004c0005 a0004c0018 a0004c0019 a0004c0020 a0005c0006 a0006c0007 a0007c0008 a0008c0014 a0009c0017 a0010c0016 a0012c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(40): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044 a0001c0003t0001 a0001c0003t0019 a0001c0003t0020 a0001c0003t0029 a0001c0003t0038 a0001c0003t0039 a0001c0003t0042 a0001c0009t0002 a0001c0009t0034 a0001c0013t0001 a0003c0004t0001 a0003c0004t0012 a0003c0004t0014 a0003c0004t0017 a0003c0004t0021 a0003c0015t0007 a0004c0005t0005 a0004c0005t0007 a0004c0005t0032 a0004c0005t0043 a0004c0018t0041 a0004c0019t0001 a0004c0020t0037 a0005c0006t0006 a0005c0006t0033 a0006c0007t0006 a0007c0008t0028 a0008c0014t0001 a0009c0017t0006 a0010c0016t0001 a0012c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0005g0005 a0001c0001t0005g0018 a0001c0001t0005g0027 a0001c0001t0011g0001 a0001c0001t0011g0003 a0001c0001t0013g0016 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0018g0001 a0001c0001t0022g0001 a0001c0001t0026g0003 a0001c0001t0027g0024 a0001c0001t0030g0087 a0001c0001t0031g0066 a0001c0001t0040g0001 a0001c0001t0044g0005 a0001c0003t0001g0003 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0019g0003 a0001c0003t0019g0069 a0001c0003t0020g0003 a0001c0003t0029g0003 a0001c0003t0038g0003 a0001c0003t0039g0003 a0001c0003t0042g0003 a0001c0009t0002g0002 a0001c0009t0034g0051 a0001c0013t0001g0075 a0003c0004t0001g0007 a0003c0004t0001g0023 a0003c0004t0001g0026 a0003c0004t0001g0038 a0003c0004t0001g0041 a0003c0004t0012g0021 a0003c0004t0012g0044 a0003c0004t0012g0080 a0003c0004t0014g0010 a0003c0004t0017g0017 a0003c0004t0021g0015 a0003c0015t0007g0037 a0004c0005t0005g0011 a0004c0005t0007g0008 a0004c0005t0007g0020 a0004c0005t0007g0042 a0004c0005t0032g0008 a0004c0005t0043g0011 a0004c0018t0041g0047 a0004c0019t0001g0063 a0004c0020t0037g0045 a0005c0006t0006g0004 a0005c0006t0006g0062 a0005c0006t0033g0004 a0006c0007t0006g0032 a0006c0007t0006g0064 a0007c0008t0028g0022 a0008c0014t0001g0001 a0009c0017t0006g0061 a0010c0016t0001g0003 a0012c0010t0001g0003	320	438	0.7306	c.418 others(3): Show c.418A>G	p.Asn others(6): Show p.Asn140Asp	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	525/3072	418/978	140/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626703	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0003 a0010c0016t0001g0003	1	438	0.0023	c.494 others(3): Show c.494G>A	p.Arg others(6): Show p.Arg165Gln	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	601/3072	494/978	165/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626715	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0004 a0011c0011t0004	a0011c0011t0004g0002 a0011c0011t0004g0002	1	438	0.0023	c.506 others(3): Show c.506G>A	p.Arg others(6): Show p.Arg169His	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	613/3072	506/978	169/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626723	G G	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01515.hp2 HG02145.hp1 others(9): Show HG00733.hp1 HG01515.hp2 HG02145.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03209.hp1 NA20129.hp1	a0005 a0006 a0005 a0006	a0005c0006 a0006c0007 a0005c0006 a0006c0007	a0005c0006t0006 a0005c0006t0033 a0006c0007t0006 a0005c0006t0006 a0005c0006t0033 a0006c0007t0006	a0005c0006t0006g0004 a0005c0006t0006g0062 a0005c0006t0033g0004 others(2): Show a0005c0006t0006g0004 a0005c0006t0006g0062 a0005c0006t0033g0004 a0006c0007t0006g0032 a0006c0007t0006g0064	12	438	0.0274	c.514 others(3): Show c.514G>C	p.Val others(6): Show p.Val172Leu	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	621/3072	514/978	172/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88626735	G G	T T	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0001 a0008c0014t0001g0001	1	438	0.0023	c.526 others(3): Show c.526G>T	p.Val others(6): Show p.Val176Leu	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	2/4	633/3072	526/978	176/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88630061	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 HG03669.hp1 HG02080.hp2 HG03669.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0028 a0007c0008t0028	a0007c0008t0028g0022 a0007c0008t0028g0022	2	438	0.0046	c.745 others(3): Show c.745G>A	p.Gly others(6): Show p.Gly249Ser	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	4/4	852/3072	745/978	249/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88630155	G G	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0006 a0009c0017t0006	a0009c0017t0006g0061 a0009c0017t0006g0061	1	438	0.0023	c.839 others(3): Show c.839G>C	p.Ser others(6): Show p.Ser280Thr	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	4/4	946/3072	839/978	280/325	chr15	TogoVar
AEN_chr15_88616340_88637281	88630167	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01515.hp2 HG03017.hp1 HG00733.hp1 HG01515.hp2 HG03017.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0032 a0006c0007t0006g0064 a0006c0007t0006g0032 a0006c0007t0006g0064	3	438	0.0068	c.851 others(3): Show c.851G>A	p.Cys others(6): Show p.Cys284Tyr	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	4/4	958/3072	851/978	284/325	chr15	TogoVar
AFAP1L1_chr5_149266859_149348637	149301154	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01515.hp1 HG02559.hp1 HG01192.hp2 HG01515.hp1 HG02559.hp1	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0002 a0003c0008t0002 a0003c0005t0002 a0003c0008t0002	a0003c0005t0002g0233 a0003c0005t0002g0264 a0003c0008t0002g0263 a0003c0005t0002g0233 a0003c0005t0002g0264 a0003c0008t0002g0263	3	284	0.0106	c.251 others(3): Show c.251G>A	p.Arg others(5): Show p.Arg84Gln	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	4/19	361/6024	251/2307	84/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149301214	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03486.hp1 NA18906.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0022 a0004c0004t0001 a0004c0004t0003 a0004c0004t0022	a0004c0004t0001g0189 a0004c0004t0003g0023 a0004c0004t0022g0172 a0004c0004t0001g0189 a0004c0004t0003g0023 a0004c0004t0022g0172	3	284	0.0106	c.311 others(3): Show c.311G>A	p.Ser others(6): Show p.Ser104Asn	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	4/19	421/6024	311/2307	104/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149302446	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02897.hp1 HG03041.hp1 HG01243.hp1 HG02897.hp1 HG03041.hp1	a0005 a0009 a0005 a0009	a0005c0007 a0009c0013 a0005c0007 a0009c0013	a0005c0007t0008 a0005c0007t0010 a0009c0013t0001 a0005c0007t0008 a0005c0007t0010 a0009c0013t0001	a0005c0007t0008g0062 a0005c0007t0010g0150 a0009c0013t0001g0206 a0005c0007t0008g0062 a0005c0007t0010g0150 a0009c0013t0001g0206	3	284	0.0106	c.356 others(3): Show c.356A>G	p.Asn others(6): Show p.Asn119Ser	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	5/19	466/6024	356/2307	119/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149312199	G G	C C	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0154 a0006c0006t0001g0157 a0006c0006t0001g0154 a0006c0006t0001g0157	2	284	0.0070	c.101 others(4): Show c.1015G>C	p.Asp others(6): Show p.Asp339His	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	9/19	1125/6024	1015/2307	339/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149316262	A A	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02280.hp2 HG02559.hp2 others(8): Show HG01243.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 others(1): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0027	a0002c0002t0003g0012 a0002c0002t0003g0017 a0002c0002t0003g0018 others(8): Show a0002c0002t0003g0012 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0065 a0002c0002t0003g0169 a0002c0002t0003g0207 a0002c0002t0003g0219 a0002c0002t0006g0016 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0027g0015	11	284	0.0387	c.122 others(4): Show c.1226A>T	p.Asp others(6): Show p.Asp409Val	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	11/19	1336/6024	1226/2307	409/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149317783	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG03041.hp1 HG03225.hp2 HG01243.hp1 HG03041.hp1 HG03225.hp2	a0005 a0010 a0005 a0010	a0005c0007 a0010c0012 a0005c0007 a0010c0012	a0005c0007t0008 a0005c0007t0010 a0010c0012t0010 a0005c0007t0008 a0005c0007t0010 a0010c0012t0010	a0005c0007t0008g0062 a0005c0007t0010g0150 a0010c0012t0010g0063 a0005c0007t0008g0062 a0005c0007t0010g0150 a0010c0012t0010g0063	3	284	0.0106	c.132 others(4): Show c.1322A>G	p.Lys others(6): Show p.Lys441Arg	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	12/19	1432/6024	1322/2307	441/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149320426	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0146 a0007c0010t0002g0146	1	284	0.0035	c.166 others(4): Show c.1661C>T	p.Pro others(6): Show p.Pro554Leu	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	14/19	1771/6024	1661/2307	554/768	chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149322678	C C	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0017 a0008c0009t0017	a0008c0009t0017g0155 a0008c0009t0017g0155	1	284	0.0035	c.177 others(4): Show c.1771C>A	p.Arg others(6): Show p.Arg591Ser	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	15/19	1881/6024	1771/2307	591/768	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114297016	C C	T T	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0022 a0013c0025t0022	a0013c0025t0022g0234 a0013c0025t0022g0234	1	260	0.0038	c.239 others(4): Show c.2392G>A	p.Val others(6): Show p.Val798Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	18/19	2439/3722	2392/2457	798/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300301	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0007 a0010c0032t0007	a0010c0032t0007g0013 a0010c0032t0007g0013	1	260	0.0038	c.185 others(4): Show c.1850C>T	p.Thr others(6): Show p.Thr617Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	15/19	1897/3722	1850/2457	617/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300507	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02647.hp1 HG02886.hp1 others(4): Show HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp1 NA18906.hp2 NA21309.hp1	a0004 a0004	a0004c0009 a0004c0013 a0004c0009 a0004c0013	a0004c0009t0009 a0004c0009t0012 a0004c0013t0009 a0004c0009t0009 a0004c0009t0012 a0004c0013t0009	a0004c0009t0009g0009 a0004c0009t0009g0182 a0004c0009t0009g0218 others(4): Show a0004c0009t0009g0009 a0004c0009t0009g0182 a0004c0009t0009g0218 a0004c0009t0009g0242 a0004c0009t0012g0044 a0004c0013t0009g0020 a0004c0013t0009g0216	7	260	0.0269	c.172 others(4): Show c.1726T>C	p.Ser others(6): Show p.Ser576Pro	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	14/19	1773/3722	1726/2457	576/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300668	G G	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01109.hp2 HG01243.hp1 others(10): Show HG00642.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02451.hp1 HG02735.hp1 HG02895.hp2 HG03139.hp1 HG03195.hp1 HG03704.hp1 HG03834.hp1 NA19043.hp1 NA19240.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0003c0026 a0005c0010 others(1): Show a0003c0007 a0003c0026 a0005c0010 a0005c0021	a0003c0007t0006 a0003c0026t0015 a0005c0010t0006 others(1): Show a0003c0007t0006 a0003c0026t0015 a0005c0010t0006 a0005c0021t0006	a0003c0007t0006g0025 a0003c0007t0006g0052 a0003c0007t0006g0093 others(10): Show a0003c0007t0006g0025 a0003c0007t0006g0052 a0003c0007t0006g0093 a0003c0007t0006g0135 a0003c0007t0006g0207 a0003c0007t0006g0250 a0003c0007t0006g0251 a0003c0026t0015g0099 a0005c0010t0006g0080 a0005c0010t0006g0221 a0005c0010t0006g0222 a0005c0010t0006g0225 a0005c0021t0006g0229	13	260	0.0500	c.156 others(4): Show c.1565C>G	p.Thr others(6): Show p.Thr522Ser	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	14/19	1612/3722	1565/2457	522/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114304769	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(27): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0013	a0002c0005 a0002c0006 a0002c0015 others(5): Show a0002c0005 a0002c0006 a0002c0015 a0002c0031 a0003c0007 a0003c0026 a0010c0032 a0013c0025	a0002c0005t0003 a0002c0005t0005 a0002c0006t0007 others(8): Show a0002c0005t0003 a0002c0005t0005 a0002c0006t0007 a0002c0006t0021 a0002c0015t0007 a0002c0015t0019 a0002c0031t0020 a0003c0007t0006 a0003c0026t0015 a0010c0032t0007 a0013c0025t0022	a0002c0005t0003g0012 a0002c0005t0003g0022 a0002c0005t0003g0023 others(27): Show a0002c0005t0003g0012 a0002c0005t0003g0022 a0002c0005t0003g0023 a0002c0005t0003g0136 a0002c0005t0003g0217 a0002c0005t0005g0067 a0002c0005t0005g0098 a0002c0005t0005g0239 a0002c0005t0005g0249 a0002c0006t0007g0017 a0002c0006t0007g0029 a0002c0006t0007g0033 a0002c0006t0007g0109 a0002c0006t0007g0110 a0002c0006t0007g0137 a0002c0006t0007g0154 a0002c0006t0021g0205 a0002c0015t0007g0063 a0002c0015t0019g0247 a0002c0031t0020g0024 a0003c0007t0006g0025 a0003c0007t0006g0052 a0003c0007t0006g0093 a0003c0007t0006g0135 a0003c0007t0006g0207 a0003c0007t0006g0250 a0003c0007t0006g0251 a0003c0026t0015g0099 a0010c0032t0007g0013 a0013c0025t0022g0234	30	260	0.1154	c.123 others(4): Show c.1234C>T	p.Leu others(6): Show p.Leu412Phe	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	11/19	1281/3722	1234/2457	412/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114308469	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0023 a0012c0027t0023	a0012c0027t0023g0164 a0012c0027t0023g0164	1	260	0.0038	c.931 others(3): Show c.931G>A	p.Val others(6): Show p.Val311Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	9/19	978/3722	931/2457	311/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114310370	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0152 a0006c0014t0003g0153 a0006c0014t0003g0152 a0006c0014t0003g0153	2	260	0.0077	c.866 others(3): Show c.866G>A	p.Arg others(6): Show p.Arg289His	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	8/19	913/3722	866/2457	289/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114313938	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0034 a0008c0033t0003g0034	1	260	0.0038	c.725 others(3): Show c.725C>T	p.Thr others(6): Show p.Thr242Met	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	7/19	772/3722	725/2457	242/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114323252	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0004 a0009c0034t0004	a0009c0034t0004g0244 a0009c0034t0004g0244	1	260	0.0038	c.325 others(3): Show c.325C>T	p.Arg others(6): Show p.Arg109Trp	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	5/19	372/3722	325/2457	109/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114331870	T T	C C	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0072 a0007c0017t0001g0073 a0007c0017t0001g0072 a0007c0017t0001g0073	2	260	0.0077	c.248 others(3): Show c.248A>G	p.Asn others(5): Show p.Asn83Ser	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/19	295/3722	248/2457	83/818	chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114340702	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03490.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0194 a0011c0018t0002g0194	1	260	0.0038	c.46G others(2): Show c.46G>A	p.Asp others(5): Show p.Asp16Asn	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	2/19	93/3722	46/2457	16/818	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7778797	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0214 a0004c0018t0004g0215 a0004c0018t0004g0214 a0004c0018t0004g0215	2	316	0.0063	c.186 others(4): Show c.1862C>T	p.Ala others(6): Show p.Ala621Val	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	14/18	2070/7704	1862/2445	621/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7778855	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00639.hp2 HG00735.hp2 others(17): Show HG00408.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01516.hp1 HG02040.hp1 HG02083.hp2 HG02293.hp2 HG03239.hp1 NA18612.hp2 NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18956.hp2 NA18966.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0013 a0003c0027 others(2): Show a0003c0006 a0003c0013 a0003c0027 a0003c0028 a0003c0041	a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 others(4): Show a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 a0003c0013t0005 a0003c0027t0005 a0003c0028t0005 a0003c0041t0005	a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 others(17): Show a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 a0003c0006t0005g0097 a0003c0006t0005g0137 a0003c0006t0005g0142 a0003c0006t0005g0143 a0003c0006t0005g0145 a0003c0006t0005g0239 a0003c0006t0005g0249 a0003c0006t0019g0134 a0003c0006t0019g0150 a0003c0006t0019g0264 a0003c0006t0051g0051 a0003c0013t0005g0107 a0003c0013t0005g0113 a0003c0013t0005g0232 a0003c0027t0005g0138 a0003c0028t0005g0188 a0003c0041t0005g0094	20	316	0.0633	c.180 others(4): Show c.1804G>A	p.Val others(6): Show p.Val602Met	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	14/18	2012/7704	1804/2445	602/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7800500	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01070.hp1 HG01106.hp2 others(35): Show HG00140.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18964.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0005 a0002c0008 a0002c0035 others(4): Show a0002c0005 a0002c0008 a0002c0035 a0002c0039 a0002c0040 a0004c0018 a0008c0042	a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 others(11): Show a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 a0002c0005t0063 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031 a0002c0008t0054 a0002c0008t0055 a0002c0035t0001 a0002c0039t0072 a0002c0040t0073 a0004c0018t0004 a0008c0042t0004	a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 others(35): Show a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0230 a0002c0005t0004g0244 a0002c0005t0004g0266 a0002c0005t0004g0279 a0002c0005t0004g0284 a0002c0005t0004g0285 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0004g0306 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0063g0015 a0002c0005t0064g0245 a0002c0008t0004g0146 a0002c0008t0004g0147 a0002c0008t0004g0149 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289 a0002c0008t0054g0148 a0002c0008t0055g0133 a0002c0035t0001g0257 a0002c0039t0072g0314 a0002c0040t0073g0315 a0004c0018t0004g0214 a0004c0018t0004g0215 a0008c0042t0004g0231	38	316	0.1203	c.120 others(4): Show c.1208C>G	p.Ser others(6): Show p.Ser403Cys	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/18	1416/7704	1208/2445	403/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7809739	G G	A A	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0029 a0005c0019t0029	a0005c0019t0029g0191 a0005c0019t0029g0192 a0005c0019t0029g0191 a0005c0019t0029g0192	2	316	0.0063	c.929 others(3): Show c.929C>T	p.Ser others(6): Show p.Ser310Leu	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	9/18	1137/7704	929/2445	310/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7838559	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0002 a0006c0029t0002	a0006c0029t0002g0032 a0006c0029t0002g0032	1	316	0.0032	c.691 others(3): Show c.691G>A	p.Val others(6): Show p.Val231Ile	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/18	899/7704	691/2445	231/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7843335	G G	A A	missense_variant missense_variant	MODERATE	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0004 a0008c0042t0004	a0008c0042t0004g0231 a0008c0042t0004g0231	1	316	0.0032	c.350 others(3): Show c.350C>T	p.Ala others(6): Show p.Ala117Val	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/18	558/7704	350/2445	117/814	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7872023	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0046 a0007c0046	a0007c0046t0012 a0007c0046t0012	a0007c0046t0012g0001 a0007c0046t0012g0001	1	316	0.0032	c.56A others(2): Show c.56A>G	p.Tyr others(5): Show p.Tyr19Cys	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	2/18	264/7704	56/2445	19/814	chr4	TogoVar
AFDN_chr6_167821911_167977023	167872325	G G	A A	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0246 a0003c0008t0002g0251 a0003c0008t0002g0252 a0003c0008t0002g0246 a0003c0008t0002g0251 a0003c0008t0002g0252	3	324	0.0093	c.526 others(3): Show c.526G>A	p.Ala others(6): Show p.Ala176Thr	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	4/34	748/7806	526/5496	176/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167872353	A A	G G	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0007 a0007	a0007c0032 a0007c0032	a0007c0032t0001 a0007c0032t0001	a0007c0032t0001g0018 a0007c0032t0001g0018	1	324	0.0031	c.554 others(3): Show c.554A>G	p.Asp others(6): Show p.Asp185Gly	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	4/34	776/7806	554/5496	185/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167893903	G G	A A	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0086 a0013c0014t0001g0086	1	324	0.0031	c.121 others(4): Show c.1219G>A	p.Glu others(6): Show p.Glu407Lys	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	9/34	1441/7806	1219/5496	407/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167896967	A A	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02735.hp2 HG03239.hp2 HG01496.hp2 HG02735.hp2 HG03239.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0128 a0004c0010t0001g0140 a0004c0010t0001g0141 a0004c0010t0001g0128 a0004c0010t0001g0140 a0004c0010t0001g0141	3	324	0.0093	c.131 others(4): Show c.1312A>G	p.Ile others(6): Show p.Ile438Val	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	10/34	1534/7806	1312/5496	438/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167944048	T T	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0159 a0012c0024t0001g0159	1	324	0.0031	c.334 others(4): Show c.3347T>A	p.Met others(7): Show p.Met1116Lys	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	26/34	3569/7806	3347/5496	1116/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167947879	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0202 a0006c0020t0001g0202	1	324	0.0031	c.358 others(4): Show c.3580A>G	p.Ser others(7): Show p.Ser1194Gly	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	28/34	3802/7806	3580/5496	1194/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167948306	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0258 a0005c0019t0002g0258	1	324	0.0031	c.365 others(4): Show c.3659C>T	p.Pro others(7): Show p.Pro1220Leu	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	29/34	3881/7806	3659/5496	1220/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951472	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0278 a0010c0018t0003g0278	1	324	0.0031	c.411 others(4): Show c.4118C>T	p.Pro others(7): Show p.Pro1373Leu	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4340/7806	4118/5496	1373/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951742	C C	A A	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0125 a0011c0025t0001g0125	1	324	0.0031	c.438 others(4): Show c.4388C>A	p.Pro others(7): Show p.Pro1463His	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4610/7806	4388/5496	1463/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167951765	C C	A A	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0208 a0008c0026t0001g0208	1	324	0.0031	c.441 others(4): Show c.4411C>A	p.Pro others(7): Show p.Pro1471Thr	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	4633/7806	4411/5496	1471/1831	chr6	TogoVar
AFDN_chr6_167821911_167977023	167952182	G G	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0010 a0009c0022t0010	a0009c0022t0010g0269 a0009c0022t0010g0269	1	324	0.0031	c.482 others(4): Show c.4828G>T	p.Ala others(7): Show p.Ala1610Ser	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	30/34	5050/7806	4828/5496	1610/1831	chr6	TogoVar

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