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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ARL9_chr4_56500791_56529453	56505980	C C	CAAG CAAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(59): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01516.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp2 HG02293.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03688.hp2 HG03834.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0017 a0004c0004 others(2): Show a0001c0001 a0001c0017 a0004c0004 a0005c0005 a0005c0015	a0001c0001t0005 a0001c0017t0001 a0004c0004t0001 others(3): Show a0001c0001t0005 a0001c0017t0001 a0004c0004t0001 a0004c0004t0009 a0005c0005t0001 a0005c0015t0007	a0001c0001t0005g0058 a0001c0017t0001g0060 a0004c0004t0001g0003 others(45): Show a0001c0001t0005g0058 a0001c0017t0001g0060 a0004c0004t0001g0003 a0004c0004t0001g0011 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0071 a0004c0004t0001g0072 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0009g0070 a0005c0005t0001g0025 a0005c0005t0001g0059 a0005c0005t0001g0061 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0073 a0005c0005t0001g0074 a0005c0015t0007g0063	62	414	0.1498	3	c.120 others(10): Show c.120_121insGAA	p.Gln others(14): Show p.Gln40_Lys41insGlu	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	193/1447	121/798	41/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMC12_chr6_35732032_35754079	35748735	C C	CCTGGTCA others(8): Show CCTGGTCATCCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18975.hp2 NA18975.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0034 a0005c0016t0001g0034	1	436	0.0023	15	c.889 others(22): Show c.889_903dupCTGGTCATCCACCCT	p.Leu others(13): Show p.Leu297_Pro301dup	ARMC12	ENSG00000157343.9	transcript	ENST00000373866.4	protein_coding	6/6	981/1309	904/1023	302/340	INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMCX2_chrX_101650281_101664850	101656879	T T	TCTGCAGC others(11): Show TCTGCAGCCCCAGTAGGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0032 a0002c0010t0001g0032	1	332	0.0030	18	c.692 others(25): Show c.692_709dupCACCTACTGGGGCTGCAG	p.Ala others(13): Show p.Ala231_Ala236dup	ARMCX2	ENSG00000184867.14	transcript	ENST00000356824.9	protein_coding	6/6	1220/2819	709/1899	237/632		chrX	TogoVar
ARPC3_chr12_110429823_110455337	110436172	G G	GGGGGGTC others(5): Show GGGGGGTCCCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	332	0.0030	12	c.411 others(19): Show c.411_412insGAGGGGACCCCC	p.Arg others(25): Show p.Arg137_Gln138insGluGlyThrPro	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	6/7	488/946	411/537	137/178		chr12	TogoVar
ART5_chr11_3633512_3646992	3640355	A A	ATGG ATGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(442): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.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.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0004 a0001c0005 others(14): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0018 a0002c0002 a0002c0003 a0002c0013 a0002c0014 a0002c0017 a0002c0019 a0004c0006 a0006c0012 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0004t0005 a0001c0005t0001 a0001c0005t0004 a0001c0005t0008 a0001c0009t0001 a0001c0010t0001 a0001c0015t0002 a0001c0016t0009 a0001c0018t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0008 a0002c0013t0001 a0002c0014t0001 a0002c0017t0001 a0002c0019t0002 a0004c0006t0001 a0006c0012t0001 a0007c0011t0008	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0003g0030 a0001c0001t0003g0082 a0001c0001t0005g0017 a0001c0001t0006g0027 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0050 a0001c0001t0007g0102 a0001c0001t0008g0058 a0001c0001t0009g0040 a0001c0001t0012g0023 a0001c0001t0013g0032 a0001c0001t0014g0090 a0001c0001t0016g0053 a0001c0001t0017g0085 a0001c0004t0005g0016 a0001c0005t0001g0107 a0001c0005t0004g0063 a0001c0005t0008g0060 a0001c0009t0001g0041 a0001c0010t0001g0043 a0001c0015t0002g0076 a0001c0016t0009g0095 a0001c0018t0002g0091 a0002c0002t0001g0004 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0096 a0002c0002t0001g0105 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0022 a0002c0002t0003g0031 a0002c0002t0003g0070 a0002c0002t0003g0077 a0002c0002t0005g0038 a0002c0002t0005g0084 a0002c0002t0006g0012 a0002c0002t0006g0026 a0002c0002t0006g0048 a0002c0002t0006g0049 a0002c0002t0007g0008 a0002c0002t0007g0109 a0002c0002t0011g0047 a0002c0002t0011g0051 a0002c0002t0011g0052 a0002c0003t0002g0035 a0002c0003t0002g0081 a0002c0003t0004g0005 a0002c0003t0004g0057 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0004g0065 a0002c0003t0005g0015 a0002c0003t0005g0083 a0002c0003t0008g0013 a0002c0003t0008g0059 a0002c0003t0008g0064 a0002c0013t0001g0099 a0002c0014t0001g0100 a0002c0017t0001g0104 a0002c0019t0002g0088 a0004c0006t0001g0025 a0006c0012t0001g0098 a0007c0011t0008g0055	445	452	0.9845	3	c.71_ others(8): Show c.71_73dupCCA	p.Pro others(14): Show p.Pro24_Ile25insThr	ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding	2/4	203/1232	73/876	25/291		chr11	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCA CGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02004.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18975.hp2 NA18982.hp1 NA19011.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0002c0005 a0002c0009 others(2): Show a0002c0002 a0002c0005 a0002c0009 a0002c0011 a0010c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0017 a0002c0002t0025 a0002c0005t0002 a0002c0005t0004 a0002c0005t0008 a0002c0009t0005 a0002c0011t0002 a0010c0014t0002	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 others(9): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0005g0001 a0002c0002t0017g0001 a0002c0002t0025g0001 a0002c0005t0002g0001 a0002c0005t0004g0001 a0002c0005t0008g0001 a0002c0009t0005g0001 a0002c0011t0002g0001 a0010c0014t0002g0001	63	281	0.2242	3	c.184 others(10): Show c.184_186dupCAG	p.Gln others(5): Show p.Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCA CGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp1 HG02109.hp2 HG02647.hp1 others(4): Show HG01081.hp1 HG02109.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG04184.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 others(2): Show a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 a0005c0004t0011 a0005c0004t0012	a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0004g0001 others(2): Show a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0004g0001 a0005c0004t0011g0001 a0005c0004t0012g0001	7	225	0.0311	6	c.181 others(13): Show c.181_186dupCAGCAG	p.Gln others(11): Show p.Gln61_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(2): Show CGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00558.hp2 HG01257.hp1 others(37): Show HG00558.hp1 HG00558.hp2 HG01257.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02486.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03491.hp1 HG03579.hp2 HG04115.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0003c0003t0015 a0003c0003t0018	a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 others(3): Show a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 a0003c0003t0007g0001 a0003c0003t0015g0001 a0003c0003t0018g0001	40	258	0.1550	9	c.178 others(16): Show c.178_186dupCAGCAGCAG	p.Gln others(11): Show p.Gln60_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(5): Show CGCAGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp1 HG01358.hp2 HG01952.hp1 others(2): Show HG01358.hp1 HG01358.hp2 HG01952.hp1 HG02818.hp1 HG03540.hp1	a0006 a0006	a0006c0010 a0006c0012 a0006c0010 a0006c0012	a0006c0010t0001 a0006c0012t0002 a0006c0010t0001 a0006c0012t0002	a0006c0010t0001g0001 a0006c0012t0002g0001 a0006c0010t0001g0001 a0006c0012t0002g0001	5	223	0.0224	12	c.175 others(19): Show c.175_186dupCAGCAGCAGCAG	p.Gln others(11): Show p.Gln59_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(8): Show CGCAGCAGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0008 a0008	a0008c0017 a0008c0018 a0008c0017 a0008c0018	a0008c0017t0011 a0008c0018t0002 a0008c0017t0011 a0008c0018t0002	a0008c0017t0011g0001 a0008c0018t0002g0001 a0008c0017t0011g0001 a0008c0018t0002g0001	2	220	0.0091	15	c.172 others(22): Show c.172_186dupCAGCAGCAGCAGCAG	p.Gln others(11): Show p.Gln58_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(11): Show CGCAGCAGCAGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0016 a0011c0016t0016	a0011c0016t0016g0001 a0011c0016t0016g0001	1	219	0.0046	18	c.169 others(25): Show c.169_186dupCAGCAGCAGCAGCAGCAG	p.Gln others(11): Show p.Gln57_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATAD5_chr17_30826966_30900869	30893656	A A	AGAAGAAA others(14): Show AGAAGAAAGCAAAACCGGAGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18973.hp2 NA18973.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0136 a0011c0014t0001g0136	1	284	0.0035	21	c.481 others(30): Show c.4816_4836dupACCGGAGACGAAGAAAGCAAA	p.Thr others(15): Show p.Thr1606_Lys1612dup	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	21/23	5219/6873	4837/5535	1613/1844	INFO_REALIGN_3_PRIME	chr17	TogoVar
ATG16L2_chr11_72809411_72834635	72822260	G G	GGCCGAGC others(11): Show GGCCGAGCGCAACCTGCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0005 a0004c0007t0002g0005	1	438	0.0023	18	c.610 others(25): Show c.610_627dupGCCGAGCGCAACCTGCGC	p.Ala others(13): Show p.Ala204_Arg209dup	ATG16L2	ENSG00000168010.11	transcript	ENST00000321297.10	protein_coding	5/18	663/2140	628/1860	210/619	INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG9B_chr7_151010151_151029494	151016435	T T	TAGAAATG others(11): Show TAGAAATGTGGAGAGAACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18956.hp2 NA18956.hp2	a0026 a0026	a0026c0034 a0026c0034	a0026c0034t0001 a0026c0034t0001	a0026c0034t0001g0103 a0026c0034t0001g0103	1	464	0.0022	18	c.251 others(27): Show c.2515_2516insCGTTCTCTCCACATTTCT	p.His others(30): Show p.His839delinsProPheSerProHisPheTyr	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	11/14	2586/3423	2515/2775	839/924		chr7	TogoVar
ATOSB_chr9_35099117_35120862	35107484	C C	CACGGTGA others(5): Show CACGGTGAAAGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01256.hp2 HG01256.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0138 a0007c0019t0001g0138	1	430	0.0023	12	c.790 others(19): Show c.790_791insCTCTTTCACCGT	p.Arg others(24): Show p.Arg264delinsThrLeuSerProTrp	ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/9	1067/2998	790/1617	264/538		chr9	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCGG others(5): Show GGCTGCGGCGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19056.hp2 NA19056.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0124 a0013c0025t0001g0124	1	41	0.0244	12	c.85_ others(17): Show c.85_86insAGCCGCCGCAGC	p.Gln others(23): Show p.Gln28_Pro29insGlnProProGln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCGG others(5): Show GGCTGCGGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19074.hp2 NA19074.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0123 a0014c0024t0001g0123	1	41	0.0244	12	c.85_ others(17): Show c.85_86insAGCAGCCGCAGC	p.Gln others(23): Show p.Gln28_Pro29insGlnGlnProGln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCTG others(5): Show GGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0005 a0005c0023t0005	a0005c0023t0005g0122 a0005c0023t0005g0122	1	41	0.0244	12	c.74_ others(17): Show c.74_85dupAGCAGCAGCAGC	p.Gln others(11): Show p.Gln25_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCTG others(11): Show GGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01943.hp2 HG01943.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0003 a0009c0022t0003	a0009c0022t0003g0121 a0009c0022t0003g0121	1	41	0.0244	18	c.68_ others(23): Show c.68_85dupAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln23_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155		chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(11): Show CGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(9): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG03669.hp2 HG03688.hp1 HG04228.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp2 NA18983.hp1 NA19055.hp1 NA20805.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0034 a0008c0008t0001g0072 a0008c0008t0001g0073 others(9): Show a0008c0008t0001g0034 a0008c0008t0001g0072 a0008c0008t0001g0073 a0008c0008t0001g0090 a0008c0008t0001g0091 a0008c0008t0001g0314 a0008c0008t0001g0315 a0008c0008t0001g0318 a0008c0008t0001g0319 a0008c0008t0001g0320 a0008c0008t0001g0321 a0008c0008t0001g0342	12	297	0.0404	18	c.916 others(25): Show c.916_917insAGCAGCAGCAGCAGCAGC	p.Gly others(30): Show p.Gly306delinsGluGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(14): Show CGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00735.hp1 HG02572.hp1 others(5): Show HG00140.hp2 HG00735.hp1 HG02572.hp1 HG02698.hp1 HG03239.hp2 HG04204.hp1 NA20752.hp1 NA20905.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0041 a0011c0012t0001g0045 a0011c0012t0001g0046 others(5): Show a0011c0012t0001g0041 a0011c0012t0001g0045 a0011c0012t0001g0046 a0011c0012t0001g0048 a0011c0012t0001g0049 a0011c0012t0001g0051 a0011c0012t0001g0052 a0011c0012t0001g0054	8	293	0.0273	21	c.916 others(28): Show c.916_917insAGCAGCAGCAGCAGCAGCAGC	p.Gly others(33): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(23): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0001 a0032c0038t0001	a0032c0038t0001g0168 a0032c0038t0001g0169 a0032c0038t0001g0168 a0032c0038t0001g0169	2	287	0.0070	30	c.916 others(37): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(42): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(29): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG02056.hp1 HG03710.hp2 others(3): Show HG00423.hp1 HG02056.hp1 HG03710.hp2 NA18612.hp2 NA19065.hp1 NA19079.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0002 a0015c0014t0024 a0015c0014t0001 a0015c0014t0002 a0015c0014t0024	a0015c0014t0001g0055 a0015c0014t0001g0066 a0015c0014t0001g0109 others(3): Show a0015c0014t0001g0055 a0015c0014t0001g0066 a0015c0014t0001g0109 a0015c0014t0002g0076 a0015c0014t0024g0106 a0015c0014t0024g0211	6	291	0.0206	36	c.916 others(43): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(48): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Arg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(32): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01168.hp2 HG01169.hp2 HG01884.hp2 others(26): Show HG01168.hp2 HG01169.hp2 HG01884.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18946.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18999.hp2 NA19011.hp1 NA19060.hp2 NA19067.hp1 NA19077.hp2 NA19080.hp1 NA19090.hp2	a0004 a0042 a0004 a0042	a0004c0003 a0042c0044 a0004c0003 a0042c0044	a0004c0003t0001 a0004c0003t0002 a0004c0003t0020 others(2): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0020 a0004c0003t0045 a0042c0044t0001	a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 others(24): Show a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 a0004c0003t0001g0047 a0004c0003t0001g0063 a0004c0003t0001g0065 a0004c0003t0001g0067 a0004c0003t0001g0071 a0004c0003t0001g0079 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0089 a0004c0003t0001g0103 a0004c0003t0001g0104 a0004c0003t0001g0107 a0004c0003t0001g0110 a0004c0003t0001g0182 a0004c0003t0001g0313 a0004c0003t0001g0316 a0004c0003t0001g0317 a0004c0003t0002g0069 a0004c0003t0002g0081 a0004c0003t0002g0082 a0004c0003t0002g0085 a0004c0003t0020g0357 a0004c0003t0045g0105 a0042c0044t0001g0060	29	314	0.0924	39	c.916 others(46): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG C	p.Gly others(51): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(35): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp2 HG00673.hp2 HG03942.hp2 others(15): Show HG00544.hp2 HG00673.hp2 HG03942.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp2 NA18998.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1	a0006 a0006	a0006c0005 a0006c0051 a0006c0005 a0006c0051	a0006c0005t0001 a0006c0005t0002 a0006c0005t0013 others(2): Show a0006c0005t0001 a0006c0005t0002 a0006c0005t0013 a0006c0005t0039 a0006c0051t0020	a0006c0005t0001g0004 a0006c0005t0001g0050 a0006c0005t0001g0056 others(13): Show a0006c0005t0001g0004 a0006c0005t0001g0050 a0006c0005t0001g0056 a0006c0005t0001g0061 a0006c0005t0001g0070 a0006c0005t0001g0078 a0006c0005t0001g0083 a0006c0005t0001g0088 a0006c0005t0002g0005 a0006c0005t0002g0068 a0006c0005t0002g0074 a0006c0005t0002g0080 a0006c0005t0002g0219 a0006c0005t0013g0075 a0006c0005t0039g0092 a0006c0051t0020g0120	18	303	0.0594	42	c.916 others(49): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGC	p.Gly others(54): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(38): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00673.hp1 HG02135.hp1 others(9): Show HG00558.hp1 HG00673.hp1 HG02135.hp1 HG02683.hp2 NA18939.hp1 NA18942.hp2 NA18972.hp2 NA18974.hp2 NA19059.hp1 NA19060.hp1 NA19063.hp2 NA19089.hp1	a0009 a0009	a0009c0009 a0009c0050 a0009c0009 a0009c0050	a0009c0009t0001 a0009c0009t0020 a0009c0009t0043 others(2): Show a0009c0009t0001 a0009c0009t0020 a0009c0009t0043 a0009c0009t0047 a0009c0050t0001	a0009c0009t0001g0013 a0009c0009t0001g0037 a0009c0009t0001g0057 others(9): Show a0009c0009t0001g0013 a0009c0009t0001g0037 a0009c0009t0001g0057 a0009c0009t0001g0059 a0009c0009t0001g0062 a0009c0009t0001g0064 a0009c0009t0001g0126 a0009c0009t0001g0151 a0009c0009t0020g0038 a0009c0009t0043g0284 a0009c0009t0047g0058 a0009c0050t0001g0036	12	297	0.0404	45	c.916 others(52): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGC	p.Gly others(57): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(41): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG02040.hp2 HG02922.hp2 others(2): Show HG00609.hp1 HG02040.hp2 HG02922.hp2 HG03130.hp1 NA19003.hp2	a0019 a0019	a0019c0024 a0019c0060 a0019c0024 a0019c0060	a0019c0024t0001 a0019c0024t0002 a0019c0060t0001 a0019c0024t0001 a0019c0024t0002 a0019c0060t0001	a0019c0024t0001g0077 a0019c0024t0001g0096 a0019c0024t0001g0173 others(2): Show a0019c0024t0001g0077 a0019c0024t0001g0096 a0019c0024t0001g0173 a0019c0024t0002g0040 a0019c0060t0001g0164	5	290	0.0172	48	c.916 others(55): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGC	p.Gly others(60): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(44): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp2 HG02080.hp2 NA19010.hp2 others(1): Show HG00438.hp2 HG02080.hp2 NA19010.hp2 NA19043.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0053 a0018c0023t0001g0084 a0018c0023t0001g0124 others(1): Show a0018c0023t0001g0053 a0018c0023t0001g0084 a0018c0023t0001g0124 a0018c0023t0001g0166	4	289	0.0138	51	c.916 others(58): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGC	p.Gly others(63): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(47): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp1 NA19000.hp2 HG02615.hp1 NA19000.hp2	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0044 a0029c0036t0001 a0029c0036t0044	a0029c0036t0001g0178 a0029c0036t0044g0125 a0029c0036t0001g0178 a0029c0036t0044g0125	2	287	0.0070	54	c.916 others(61): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGC	p.Gly others(66): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(50): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02630.hp2 NA19064.hp1 others(1): Show HG02109.hp1 HG02630.hp2 NA19064.hp1 NA19087.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0040 a0014c0021t0001 a0014c0021t0040	a0014c0021t0001g0014 a0014c0021t0001g0167 a0014c0021t0001g0172 others(1): Show a0014c0021t0001g0014 a0014c0021t0001g0167 a0014c0021t0001g0172 a0014c0021t0040g0015	4	289	0.0138	57	c.916 others(64): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGC	p.Gly others(69): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(53): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03453.hp1 HG03453.hp1	a0025 a0025	a0025c0048 a0025c0048	a0025c0048t0001 a0025c0048t0001	a0025c0048t0001g0174 a0025c0048t0001g0174	1	286	0.0035	60	c.916 others(67): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGC	p.Gly others(72): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(56): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20300.hp1 NA20300.hp1	a0044 a0044	a0044c0046 a0044c0046	a0044c0046t0001 a0044c0046t0001	a0044c0046t0001g0171 a0044c0046t0001g0171	1	286	0.0035	63	c.916 others(70): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(75): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(59): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02809.hp2 NA20129.hp1 HG02809.hp2 NA20129.hp1	a0026 a0026	a0026c0034 a0026c0034	a0026c0034t0001 a0026c0034t0001	a0026c0034t0001g0175 a0026c0034t0001g0283 a0026c0034t0001g0175 a0026c0034t0001g0283	2	287	0.0070	66	c.916 others(73): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(78): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(62): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04184.hp2 NA18948.hp1 NA18964.hp2 HG04184.hp2 NA18948.hp1 NA18964.hp2	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0035 a0027c0030t0001g0150 a0027c0030t0001g0152 a0027c0030t0001g0035 a0027c0030t0001g0150 a0027c0030t0001g0152	3	288	0.0104	69	c.916 others(76): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(81): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(65): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0031 a0031	a0031c0033 a0031c0033	a0031c0033t0001 a0031c0033t0001	a0031c0033t0001g0170 a0031c0033t0001g0282 a0031c0033t0001g0170 a0031c0033t0001g0282	2	287	0.0070	72	c.916 others(79): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(84): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071009	C C	CGCTGCTG others(74): Show CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0042 a0028c0032t0001g0043 a0028c0032t0001g0042 a0028c0032t0001g0043	2	287	0.0070	81	c.916 others(88): Show c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gly others(93): Show p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln GlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	946/6884	916/1086	306/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(5): Show CCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01261.hp1 NA19240.hp1 HG01261.hp1 NA19240.hp1	a0034 a0043 a0034 a0043	a0034c0064 a0043c0058 a0034c0064 a0043c0058	a0034c0064t0004 a0043c0058t0041 a0034c0064t0004 a0043c0058t0041	a0034c0064t0004g0338 a0043c0058t0041g0176 a0034c0064t0004g0338 a0043c0058t0041g0176	2	103	0.0194	12	c.904 others(19): Show c.904_915dupCAGCAGCAGCAG	p.Gln others(13): Show p.Gln302_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG02040.hp1 HG02165.hp1 others(21): Show HG00408.hp2 HG02040.hp1 HG02165.hp1 HG02738.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA19009.hp2 NA19055.hp2 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0073 a0003c0004t0074 a0003c0004t0005 a0003c0004t0073 a0003c0004t0074	a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0093 others(17): Show a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0093 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0099 a0003c0004t0005g0100 a0003c0004t0005g0295 a0003c0004t0005g0296 a0003c0004t0005g0297 a0003c0004t0005g0300 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0073g0094 a0003c0004t0074g0385	24	125	0.1920	15	c.901 others(22): Show c.901_915dupCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln301_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(11): Show CCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0012 a0008c0039t0012	a0008c0039t0012g0132 a0008c0039t0012g0133 a0008c0039t0012g0132 a0008c0039t0012g0133	2	103	0.0194	18	c.898 others(25): Show c.898_915dupCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln300_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(14): Show CCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1	a0011 a0016 a0011 a0016	a0011c0057 a0016c0042 a0011c0057 a0016c0042	a0011c0057t0046 a0016c0042t0005 a0011c0057t0046 a0016c0042t0005	a0011c0057t0046g0121 a0016c0042t0005g0298 a0016c0042t0005g0299 a0011c0057t0046g0121 a0016c0042t0005g0298 a0016c0042t0005g0299	3	104	0.0288	21	c.895 others(28): Show c.895_915dupCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln299_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(17): Show CCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01255.hp1 HG01891.hp2 others(12): Show HG01081.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1	a0013 a0017 a0013 a0017	a0013c0013 a0013c0063 a0013c0065 others(1): Show a0013c0013 a0013c0063 a0013c0065 a0017c0015	a0013c0013t0009 a0013c0013t0031 a0013c0013t0059 others(5): Show a0013c0013t0009 a0013c0013t0031 a0013c0013t0059 a0013c0063t0022 a0013c0065t0005 a0017c0015t0012 a0017c0015t0028 a0017c0015t0053	a0013c0013t0009g0024 a0013c0013t0009g0025 a0013c0013t0009g0026 others(12): Show a0013c0013t0009g0024 a0013c0013t0009g0025 a0013c0013t0009g0026 a0013c0013t0009g0027 a0013c0013t0009g0031 a0013c0013t0031g0033 a0013c0013t0059g0032 a0013c0063t0022g0310 a0013c0065t0005g0381 a0017c0015t0012g0185 a0017c0015t0012g0187 a0017c0015t0012g0189 a0017c0015t0028g0186 a0017c0015t0028g0188 a0017c0015t0053g0380	15	116	0.1293	24	c.892 others(31): Show c.892_915dupCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln298_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(20): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00280.hp1 HG00735.hp2 others(41): Show HG00140.hp1 HG00280.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02602.hp1 HG02886.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA20805.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0002t0050 a0002c0002t0066 others(3): Show a0002c0002t0003 a0002c0002t0050 a0002c0002t0066 a0002c0002t0067 a0002c0007t0004 a0002c0007t0052	a0002c0002t0003g0002 a0002c0002t0003g0011 a0002c0002t0003g0012 others(36): Show a0002c0002t0003g0002 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0148 a0002c0002t0003g0156 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0184 a0002c0002t0003g0197 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0207 a0002c0002t0003g0347 a0002c0002t0003g0348 a0002c0002t0003g0349 a0002c0002t0003g0351 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0050g0375 a0002c0002t0066g0346 a0002c0002t0067g0123 a0002c0007t0004g0010 a0002c0007t0004g0311 a0002c0007t0004g0325 a0002c0007t0004g0327 a0002c0007t0004g0328 a0002c0007t0004g0329 a0002c0007t0004g0336 a0002c0007t0004g0337 a0002c0007t0004g0340 a0002c0007t0004g0341 a0002c0007t0004g0343 a0002c0007t0004g0344 a0002c0007t0004g0345 a0002c0007t0052g0339	44	145	0.3034	27	c.915 others(34): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(13): Show p.Gln297_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(23): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG01261.hp2 HG02300.hp1 others(17): Show HG00280.hp2 HG01261.hp2 HG02300.hp1 HG02300.hp2 HG02809.hp1 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp1 NA18971.hp2 NA18978.hp2 NA18993.hp1 NA19066.hp2 NA19080.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0005 a0005	a0005c0006 a0005c0018 a0005c0006 a0005c0018	a0005c0006t0004 a0005c0006t0019 a0005c0006t0051 others(2): Show a0005c0006t0004 a0005c0006t0019 a0005c0006t0051 a0005c0006t0075 a0005c0018t0003	a0005c0006t0004g0278 a0005c0006t0004g0322 a0005c0006t0004g0323 others(16): Show a0005c0006t0004g0278 a0005c0006t0004g0322 a0005c0006t0004g0323 a0005c0006t0004g0324 a0005c0006t0004g0330 a0005c0006t0004g0331 a0005c0006t0004g0334 a0005c0006t0004g0335 a0005c0006t0004g0356 a0005c0006t0019g0007 a0005c0006t0019g0193 a0005c0006t0019g0195 a0005c0006t0051g0352 a0005c0006t0075g0194 a0005c0018t0003g0145 a0005c0018t0003g0179 a0005c0018t0003g0183 a0005c0018t0003g0206 a0005c0018t0003g0350	20	121	0.1653	30	c.915 others(37): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(43): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(26): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG03195.hp2 HG03225.hp2 others(2): Show HG02145.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2	a0022 a0040 a0022 a0040	a0022c0020 a0040c0055 a0022c0020 a0040c0055	a0022c0020t0003 a0022c0020t0009 a0022c0020t0062 others(1): Show a0022c0020t0003 a0022c0020t0009 a0022c0020t0062 a0040c0055t0025	a0022c0020t0003g0386 a0022c0020t0009g0023 a0022c0020t0009g0029 others(2): Show a0022c0020t0003g0386 a0022c0020t0009g0023 a0022c0020t0009g0029 a0022c0020t0062g0028 a0040c0055t0025g0294	5	106	0.0472	33	c.915 others(40): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(46): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl n	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(29): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp1 HG02258.hp2 HG03831.hp2 others(3): Show HG01167.hp1 HG02258.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA21309.hp2	a0024 a0033 a0035 a0024 a0033 a0035	a0024c0031 a0024c0041 a0033c0043 others(1): Show a0024c0031 a0024c0041 a0033c0043 a0035c0054	a0024c0031t0003 a0024c0031t0006 a0024c0041t0006 others(2): Show a0024c0031t0003 a0024c0031t0006 a0024c0041t0006 a0033c0043t0006 a0035c0054t0025	a0024c0031t0003g0138 a0024c0031t0006g0365 a0024c0041t0006g0371 others(3): Show a0024c0031t0003g0138 a0024c0031t0006g0365 a0024c0041t0006g0371 a0024c0041t0006g0376 a0033c0043t0006g0362 a0035c0054t0025g0157	6	107	0.0561	36	c.915 others(43): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(49): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(32): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00323.hp2 HG01069.hp1 HG01192.hp1 others(7): Show HG00323.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01975.hp1 HG02698.hp2 HG02735.hp2 HG04228.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0006 a0010c0011t0014 others(1): Show a0010c0011t0004 a0010c0011t0006 a0010c0011t0014 a0010c0011t0034	a0010c0011t0004g0332 a0010c0011t0004g0333 a0010c0011t0006g0279 others(7): Show a0010c0011t0004g0332 a0010c0011t0004g0333 a0010c0011t0006g0279 a0010c0011t0006g0359 a0010c0011t0006g0366 a0010c0011t0006g0370 a0010c0011t0014g0146 a0010c0011t0014g0147 a0010c0011t0014g0369 a0010c0011t0034g0368	10	111	0.0901	39	c.915 others(46): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA G	p.Gln others(52): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(35): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(12): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02818.hp1 HG03491.hp1 HG03540.hp1 HG03927.hp2 NA19088.hp2	a0006 a0007 a0006 a0007	a0006c0052 a0007c0010 a0007c0017 a0006c0052 a0007c0010 a0007c0017	a0006c0052t0011 a0007c0010t0004 a0007c0010t0006 others(6): Show a0006c0052t0011 a0007c0010t0004 a0007c0010t0006 a0007c0010t0014 a0007c0010t0016 a0007c0010t0037 a0007c0010t0038 a0007c0017t0003 a0007c0017t0068	a0006c0052t0011g0116 a0007c0010t0004g0326 a0007c0010t0006g0374 others(12): Show a0006c0052t0011g0116 a0007c0010t0004g0326 a0007c0010t0006g0374 a0007c0010t0014g0155 a0007c0010t0016g0128 a0007c0010t0016g0130 a0007c0010t0016g0131 a0007c0010t0016g0208 a0007c0010t0037g0129 a0007c0010t0038g0127 a0007c0017t0003g0141 a0007c0017t0003g0144 a0007c0017t0003g0355 a0007c0017t0003g0364 a0007c0017t0068g0140	15	116	0.1293	42	c.915 others(49): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAG	p.Gln others(55): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(38): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01070.hp2 HG01071.hp2 HG01884.hp1 others(8): Show HG01070.hp2 HG01071.hp2 HG01884.hp1 HG01952.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA18980.hp2 NA18986.hp1	a0009 a0012 a0009 a0012	a0009c0037 a0012c0016 a0012c0029 a0009c0037 a0012c0016 a0012c0029	a0009c0037t0011 a0012c0016t0006 a0012c0016t0023 others(4): Show a0009c0037t0011 a0012c0016t0006 a0012c0016t0023 a0012c0016t0032 a0012c0016t0033 a0012c0029t0003 a0012c0029t0030	a0009c0037t0011g0115 a0009c0037t0011g0118 a0012c0016t0006g0367 others(8): Show a0009c0037t0011g0115 a0009c0037t0011g0118 a0012c0016t0006g0367 a0012c0016t0006g0372 a0012c0016t0023g0016 a0012c0016t0023g0361 a0012c0016t0032g0019 a0012c0016t0033g0017 a0012c0029t0003g0205 a0012c0029t0030g0142 a0012c0029t0030g0143	11	112	0.0982	45	c.915 others(52): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAG	p.Gln others(58): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(41): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02965.hp2 HG02723.hp1 HG02965.hp2	a0030 a0030	a0030c0040 a0030c0040	a0030c0040t0006 a0030c0040t0022 a0030c0040t0006 a0030c0040t0022	a0030c0040t0006g0358 a0030c0040t0022g0309 a0030c0040t0006g0358 a0030c0040t0022g0309	2	103	0.0194	48	c.915 others(55): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAG	p.Gln others(61): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(44): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG03471.hp2 HG06807.hp2 others(2): Show HG02818.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2	a0018 a0023 a0018 a0023	a0018c0049 a0023c0028 a0018c0049 a0023c0028	a0018c0049t0048 a0023c0028t0015 a0023c0028t0022 others(1): Show a0018c0049t0048 a0023c0028t0015 a0023c0028t0022 a0023c0028t0036	a0018c0049t0048g0122 a0023c0028t0015g0006 a0023c0028t0022g0030 others(1): Show a0018c0049t0048g0122 a0023c0028t0015g0006 a0023c0028t0022g0030 a0023c0028t0036g0373	5	106	0.0472	51	c.915 others(58): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAG	p.Gln others(64): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar

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