Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ARID1B_chr6_156772378_157215779	156779262	G G	GCGC GCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp1 HG01071.hp2 HG00642.hp1 HG01071.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0042 a0006c0006t0001g0132 a0006c0006t0001g0042 a0006c0006t0001g0132	2	150	0.0133	3	c.159 others(12): Show c.1597_1599dupCCG	p.Pro others(6): Show p.Pro533dup	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	1/20	1903/10310	1600/7119	534/2372	INFO_REALIGN_3_PRIME	chr6	TogoVar
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	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0012	a0004c0004 a0005c0005 a0008c0018 others(2): Show a0004c0004 a0005c0005 a0008c0018 a0008c0019 a0012c0017	a0004c0004t0001 a0004c0004t0009 a0005c0005t0001 others(3): Show a0004c0004t0001 a0004c0004t0009 a0005c0005t0001 a0008c0018t0001 a0008c0019t0005 a0012c0017t0007	a0004c0004t0001g0003 a0004c0004t0001g0011 a0004c0004t0001g0025 others(45): Show a0004c0004t0001g0003 a0004c0004t0001g0011 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0071 a0004c0004t0001g0072 a0004c0004t0001g0074 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0009g0073 a0005c0005t0001g0023 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0060 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0008c0018t0001g0059 a0008c0019t0005g0055 a0012c0017t0007g0062	62	416	0.1490	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	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0177 a0003c0016t0001g0177	1	438	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	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0034 a0004c0010t0001g0034	1	335	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	a0002c0002t0001g0167 a0002c0002t0001g0167	1	334	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(443): 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 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015	a0001c0001 a0001c0015 a0001c0018 others(14): Show a0001c0001 a0001c0015 a0001c0018 a0002c0002 a0002c0013 a0002c0014 a0002c0019 a0003c0003 a0005c0004 a0007c0006 a0008c0005 a0009c0009 a0010c0010 a0012c0016 a0013c0017 a0014c0012 a0015c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0015t0002 a0001c0018t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0013t0001 a0002c0014t0001 a0002c0019t0002 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0008 a0005c0004t0005 a0007c0006t0001 a0008c0005t0001 a0008c0005t0004 a0008c0005t0008 a0009c0009t0001 a0010c0010t0001 a0012c0016t0009 a0013c0017t0001 a0014c0012t0001 a0015c0011t0008	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 a0001c0015t0002g0076 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 a0002c0013t0001g0099 a0002c0014t0001g0100 a0002c0019t0002g0088 a0003c0003t0002g0035 a0003c0003t0002g0081 a0003c0003t0004g0005 a0003c0003t0004g0057 a0003c0003t0004g0061 a0003c0003t0004g0062 a0003c0003t0004g0065 a0003c0003t0005g0015 a0003c0003t0005g0083 a0003c0003t0008g0013 a0003c0003t0008g0059 a0003c0003t0008g0064 a0005c0004t0005g0016 a0007c0006t0001g0025 a0008c0005t0001g0107 a0008c0005t0004g0063 a0008c0005t0008g0060 a0009c0009t0001g0041 a0010c0010t0001g0043 a0012c0016t0009g0095 a0013c0017t0001g0104 a0014c0012t0001g0098 a0015c0011t0008g0055	446	454	0.9824	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 a0014 a0002 a0014	a0002c0002 a0002c0005 a0002c0009 others(3): Show a0002c0002 a0002c0005 a0002c0009 a0002c0011 a0002c0023 a0014c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0019 a0002c0002t0027 a0002c0005t0004 a0002c0005t0005 a0002c0005t0009 a0002c0009t0006 a0002c0011t0002 a0002c0023t0004 a0014c0014t0002	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 others(11): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0005g0001 a0002c0002t0006g0001 a0002c0002t0019g0001 a0002c0002t0027g0001 a0002c0005t0004g0001 a0002c0005t0005g0001 a0002c0005t0009g0001 a0002c0009t0006g0001 a0002c0011t0002g0001 a0002c0023t0004g0001 a0014c0014t0002g0001	63	354	0.1780	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 a0005c0004t0012 others(2): Show a0005c0004t0001 a0005c0004t0002 a0005c0004t0012 a0005c0004t0013 a0005c0004t0018	a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0012g0001 others(2): Show a0005c0004t0001g0001 a0005c0004t0002g0001 a0005c0004t0012g0001 a0005c0004t0013g0001 a0005c0004t0018g0001	7	354	0.0198	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 a0003c0003t0008 a0003c0003t0016 a0003c0003t0020	a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 others(3): Show a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 a0003c0003t0008g0001 a0003c0003t0016g0001 a0003c0003t0020g0001	40	354	0.1130	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 a0006c0012t0005 a0006c0010t0001 a0006c0012t0005	a0006c0010t0001g0001 a0006c0012t0005g0001 a0006c0010t0001g0001 a0006c0012t0005g0001	5	354	0.0141	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	a0008c0017t0012 a0008c0018t0005 a0008c0017t0012 a0008c0018t0005	a0008c0017t0012g0001 a0008c0018t0005g0001 a0008c0017t0012g0001 a0008c0018t0005g0001	2	354	0.0057	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	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0017 a0013c0016t0017	a0013c0016t0017g0001 a0013c0016t0017g0001	1	354	0.0028	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	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0140 a0010c0014t0001g0140	1	286	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	440	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	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0001 a0029c0035t0001	a0029c0035t0001g0107 a0029c0035t0001g0107	1	466	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	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	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	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0210 a0015c0030t0001g0210	1	298	0.0034	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	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0209 a0016c0029t0001g0209	1	298	0.0034	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	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0005 a0018c0028t0005	a0018c0028t0005g0208 a0018c0028t0005g0208	1	298	0.0034	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	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0003 a0019c0027t0003	a0019c0027t0003g0207 a0019c0027t0003g0207	1	298	0.0034	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	a0008c0008t0002 a0008c0008t0009 a0008c0008t0066 a0008c0008t0002 a0008c0008t0009 a0008c0008t0066	a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 others(9): Show a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 a0008c0008t0002g0324 a0008c0008t0002g0325 a0008c0008t0002g0326 a0008c0008t0002g0347 a0008c0008t0009g0030 a0008c0008t0009g0067 a0008c0008t0009g0086 a0008c0008t0009g0087 a0008c0008t0066g0068	12	402	0.0299	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	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0002 a0013c0012t0009 a0013c0012t0002 a0013c0012t0009	a0013c0012t0002g0037 a0013c0012t0002g0041 a0013c0012t0002g0042 others(5): Show a0013c0012t0002g0037 a0013c0012t0002g0041 a0013c0012t0002g0042 a0013c0012t0002g0045 a0013c0012t0002g0046 a0013c0012t0002g0047 a0013c0012t0002g0049 a0013c0012t0009g0044	8	402	0.0199	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	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0002 a0034c0038t0011 a0034c0038t0002 a0034c0038t0011	a0034c0038t0002g0165 a0034c0038t0011g0164 a0034c0038t0002g0165 a0034c0038t0011g0164	2	402	0.0050	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 a0015c0014t0011 others(3): Show a0015c0014t0001 a0015c0014t0002 a0015c0014t0011 a0015c0014t0058 a0015c0014t0059 a0015c0014t0065	a0015c0014t0001g0071 a0015c0014t0002g0060 a0015c0014t0011g0105 others(3): Show a0015c0014t0001g0071 a0015c0014t0002g0060 a0015c0014t0011g0105 a0015c0014t0058g0102 a0015c0014t0059g0210 a0015c0014t0065g0050	6	402	0.0149	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	a0003 a0054 a0003 a0054	a0003c0003 a0054c0044 a0003c0003 a0054c0044	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(7): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 a0003c0003t0034 a0003c0003t0064 a0003c0003t0067 a0003c0003t0074 a0003c0003t0077 a0054c0044t0002	a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(24): Show a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0080 a0003c0003t0002g0036 a0003c0003t0002g0058 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0066 a0003c0003t0002g0082 a0003c0003t0002g0099 a0003c0003t0002g0100 a0003c0003t0002g0103 a0003c0003t0002g0321 a0003c0003t0002g0322 a0003c0003t0004g0001 a0003c0003t0004g0040 a0003c0003t0004g0074 a0003c0003t0004g0081 a0003c0003t0004g0181 a0003c0003t0011g0318 a0003c0003t0034g0085 a0003c0003t0064g0043 a0003c0003t0067g0106 a0003c0003t0074g0364 a0003c0003t0077g0101 a0054c0044t0002g0056	29	402	0.0721	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 a0006c0005t0004 others(3): Show a0006c0005t0001 a0006c0005t0002 a0006c0005t0004 a0006c0005t0016 a0006c0005t0060 a0006c0051t0073	a0006c0005t0001g0003 a0006c0005t0001g0063 a0006c0005t0001g0069 others(13): Show a0006c0005t0001g0003 a0006c0005t0001g0063 a0006c0005t0001g0069 a0006c0005t0001g0075 a0006c0005t0001g0217 a0006c0005t0002g0065 a0006c0005t0002g0073 a0006c0005t0002g0078 a0006c0005t0004g0002 a0006c0005t0004g0051 a0006c0005t0004g0052 a0006c0005t0004g0057 a0006c0005t0004g0084 a0006c0005t0016g0070 a0006c0005t0060g0088 a0006c0051t0073g0116	18	402	0.0448	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 a0048 a0009 a0048	a0009c0009 a0048c0050 a0009c0009 a0048c0050	a0009c0009t0002 a0009c0009t0004 a0009c0009t0011 others(4): Show a0009c0009t0002 a0009c0009t0004 a0009c0009t0011 a0009c0009t0063 a0009c0009t0072 a0009c0009t0079 a0048c0050t0004	a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0004g0033 others(9): Show a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0004g0033 a0009c0009t0004g0053 a0009c0009t0004g0055 a0009c0009t0004g0059 a0009c0009t0004g0083 a0009c0009t0011g0147 a0009c0009t0063g0281 a0009c0009t0072g0034 a0009c0009t0079g0054 a0048c0050t0004g0032	12	402	0.0299	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	a0018 a0018	a0018c0024 a0018c0060 a0018c0024 a0018c0060	a0018c0024t0002 a0018c0024t0010 a0018c0024t0069 others(1): Show a0018c0024t0002 a0018c0024t0010 a0018c0024t0069 a0018c0060t0009	a0018c0024t0002g0072 a0018c0024t0002g0092 a0018c0024t0010g0035 others(2): Show a0018c0024t0002g0072 a0018c0024t0002g0092 a0018c0024t0010g0035 a0018c0024t0069g0169 a0018c0060t0009g0160	5	402	0.0124	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	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0002 a0021c0023t0004 a0021c0023t0033 others(1): Show a0021c0023t0002 a0021c0023t0004 a0021c0023t0033 a0021c0023t0034	a0021c0023t0002g0079 a0021c0023t0004g0048 a0021c0023t0033g0162 others(1): Show a0021c0023t0002g0079 a0021c0023t0004g0048 a0021c0023t0033g0162 a0021c0023t0034g0122	4	402	0.0100	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	a0033 a0033	a0033c0036 a0033c0036	a0033c0036t0062 a0033c0036t0071 a0033c0036t0062 a0033c0036t0071	a0033c0036t0062g0174 a0033c0036t0071g0120 a0033c0036t0062g0174 a0033c0036t0071g0120	2	402	0.0050	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	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0002 a0020c0021t0033 a0020c0021t0061 a0020c0021t0002 a0020c0021t0033 a0020c0021t0061	a0020c0021t0002g0010 a0020c0021t0002g0163 a0020c0021t0033g0168 others(1): Show a0020c0021t0002g0010 a0020c0021t0002g0163 a0020c0021t0033g0168 a0020c0021t0061g0011	4	402	0.0100	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	a0047 a0047	a0047c0048 a0047c0048	a0047c0048t0009 a0047c0048t0009	a0047c0048t0009g0170 a0047c0048t0009g0170	1	402	0.0025	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	a0046 a0046	a0046c0046 a0046c0046	a0046c0046t0009 a0046c0046t0009	a0046c0046t0009g0167 a0046c0046t0009g0167	1	402	0.0025	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	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0009 a0032c0034t0032 a0032c0034t0009 a0032c0034t0032	a0032c0034t0009g0171 a0032c0034t0032g0279 a0032c0034t0009g0171 a0032c0034t0032g0279	2	402	0.0050	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	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0002 a0026c0030t0011 a0026c0030t0002 a0026c0030t0011	a0026c0030t0002g0031 a0026c0030t0011g0146 a0026c0030t0011g0148 a0026c0030t0002g0031 a0026c0030t0011g0146 a0026c0030t0011g0148	3	402	0.0075	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	a0031c0033t0009 a0031c0033t0032 a0031c0033t0009 a0031c0033t0032	a0031c0033t0009g0166 a0031c0033t0032g0278 a0031c0033t0009g0166 a0031c0033t0032g0278	2	402	0.0050	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	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0004 a0030c0032t0004	a0030c0032t0004g0038 a0030c0032t0004g0039 a0030c0032t0004g0038 a0030c0032t0004g0039	2	402	0.0050	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	a0038 a0051 a0038 a0051	a0038c0058 a0051c0064 a0038c0058 a0051c0064	a0038c0058t0070 a0051c0064t0015 a0038c0058t0070 a0051c0064t0015	a0038c0058t0070g0172 a0051c0064t0015g0343 a0038c0058t0070g0172 a0051c0064t0015g0343	2	402	0.0050	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	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 others(1): Show a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 a0004c0004t0118	a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 others(20): Show a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 a0004c0004t0005g0095 a0004c0004t0005g0096 a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0301 a0004c0004t0005g0302 a0004c0004t0005g0303 a0004c0004t0005g0304 a0004c0004t0005g0305 a0004c0004t0005g0306 a0004c0004t0005g0308 a0004c0004t0005g0309 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0005g0312 a0004c0004t0022g0006 a0004c0004t0022g0298 a0004c0004t0022g0307 a0004c0004t0117g0392 a0004c0004t0118g0090	24	402	0.0597	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	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0026 a0027c0039t0026	a0027c0039t0026g0128 a0027c0039t0026g0129 a0027c0039t0026g0128 a0027c0039t0026g0129	2	402	0.0050	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	a0016 a0039 a0016 a0039	a0016c0042 a0039c0057 a0016c0042 a0039c0057	a0016c0042t0005 a0039c0057t0078 a0016c0042t0005 a0039c0057t0078	a0016c0042t0005g0299 a0016c0042t0005g0300 a0039c0057t0078g0117 a0016c0042t0005g0299 a0016c0042t0005g0300 a0039c0057t0078g0117	3	402	0.0075	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	a0011 a0014 a0011 a0014	a0011c0013 a0011c0063 a0011c0065 others(1): Show a0011c0013 a0011c0063 a0011c0065 a0014c0015	a0011c0013t0021 a0011c0013t0027 a0011c0013t0044 others(7): Show a0011c0013t0021 a0011c0013t0027 a0011c0013t0044 a0011c0013t0102 a0011c0063t0098 a0011c0065t0116 a0014c0015t0026 a0014c0015t0035 a0014c0015t0036 a0014c0015t0093	a0011c0013t0021g0023 a0011c0013t0021g0027 a0011c0013t0027g0020 others(12): Show a0011c0013t0021g0023 a0011c0013t0021g0027 a0011c0013t0027g0020 a0011c0013t0027g0021 a0011c0013t0027g0022 a0011c0013t0044g0029 a0011c0013t0102g0028 a0011c0063t0098g0315 a0011c0065t0116g0388 a0014c0015t0026g0184 a0014c0015t0035g0186 a0014c0015t0035g0188 a0014c0015t0036g0185 a0014c0015t0036g0187 a0014c0015t0093g0387	15	402	0.0373	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 a0002c0002t0017 a0002c0002t0018 others(10): Show a0002c0002t0003 a0002c0002t0017 a0002c0002t0018 a0002c0002t0040 a0002c0002t0089 a0002c0002t0108 a0002c0002t0109 a0002c0002t0111 a0002c0007t0007 a0002c0007t0015 a0002c0007t0025 a0002c0007t0091 a0002c0007t0092	a0002c0002t0003g0008 a0002c0002t0003g0131 a0002c0002t0003g0132 others(39): Show a0002c0002t0003g0008 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0143 a0002c0002t0003g0152 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0017g0361 a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0206 a0002c0002t0040g0183 a0002c0002t0040g0196 a0002c0002t0089g0382 a0002c0002t0108g0119 a0002c0002t0109g0178 a0002c0002t0111g0353 a0002c0007t0007g0316 a0002c0007t0007g0332 a0002c0007t0007g0333 a0002c0007t0007g0341 a0002c0007t0007g0346 a0002c0007t0007g0348 a0002c0007t0015g0342 a0002c0007t0015g0345 a0002c0007t0015g0349 a0002c0007t0015g0350 a0002c0007t0025g0007 a0002c0007t0025g0334 a0002c0007t0091g0344 a0002c0007t0092g0330	44	402	0.1095	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	a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 others(6): Show a0005c0006t0007 a0005c0006t0012 a0005c0006t0028 a0005c0006t0090 a0005c0006t0119 a0005c0006t0120 a0005c0018t0003 a0005c0018t0017 a0005c0018t0018	a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 others(16): Show a0005c0006t0007g0327 a0005c0006t0007g0328 a0005c0006t0007g0363 a0005c0006t0012g0286 a0005c0006t0012g0329 a0005c0006t0012g0335 a0005c0006t0012g0336 a0005c0006t0012g0339 a0005c0006t0012g0340 a0005c0006t0028g0005 a0005c0006t0028g0194 a0005c0006t0090g0359 a0005c0006t0119g0192 a0005c0006t0120g0193 a0005c0018t0003g0175 a0005c0018t0017g0139 a0005c0018t0017g0182 a0005c0018t0017g0356 a0005c0018t0018g0205	20	402	0.0498	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 a0022c0020t0021 a0022c0020t0105 others(1): Show a0022c0020t0003 a0022c0020t0021 a0022c0020t0105 a0040c0055t0075	a0022c0020t0003g0393 a0022c0020t0021g0019 a0022c0020t0021g0025 others(2): Show a0022c0020t0003g0393 a0022c0020t0021g0019 a0022c0020t0021g0025 a0022c0020t0105g0024 a0040c0055t0075g0295	5	402	0.0124	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	a0023 a0036 a0041 a0023 a0036 a0041	a0023c0031 a0023c0041 a0036c0043 others(1): Show a0023c0031 a0023c0041 a0036c0043 a0041c0054	a0023c0031t0003 a0023c0031t0006 a0023c0041t0006 others(2): Show a0023c0031t0003 a0023c0031t0006 a0023c0041t0006 a0036c0043t0006 a0041c0054t0076	a0023c0031t0003g0145 a0023c0031t0006g0371 a0023c0041t0006g0378 others(3): Show a0023c0031t0003g0145 a0023c0031t0006g0371 a0023c0041t0006g0378 a0023c0041t0006g0383 a0036c0043t0006g0369 a0041c0054t0076g0153	6	402	0.0149	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	a0010c0011t0006 a0010c0011t0007 a0010c0011t0019 others(2): Show a0010c0011t0006 a0010c0011t0007 a0010c0011t0019 a0010c0011t0047 a0010c0011t0049	a0010c0011t0006g0275 a0010c0011t0006g0366 a0010c0011t0006g0372 others(7): Show a0010c0011t0006g0275 a0010c0011t0006g0366 a0010c0011t0006g0372 a0010c0011t0007g0337 a0010c0011t0007g0338 a0010c0011t0019g0141 a0010c0011t0019g0142 a0010c0011t0019g0375 a0010c0011t0047g0374 a0010c0011t0049g0376	10	402	0.0249	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(13): 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 homoSapiens_chm13v2.hp1	a0007 a0042 a0007 a0042	a0007c0010 a0007c0017 a0042c0052 a0007c0010 a0007c0017 a0042c0052	a0007c0010t0006 a0007c0010t0007 a0007c0010t0019 others(8): Show a0007c0010t0006 a0007c0010t0007 a0007c0010t0019 a0007c0010t0024 a0007c0010t0051 a0007c0010t0052 a0007c0010t0053 a0007c0017t0003 a0007c0017t0017 a0007c0017t0110 a0042c0052t0014	a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0007g0331 others(13): Show a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0007g0331 a0007c0010t0019g0151 a0007c0010t0024g0124 a0007c0010t0024g0126 a0007c0010t0024g0127 a0007c0010t0051g0125 a0007c0010t0052g0207 a0007c0010t0053g0123 a0007c0017t0003g0135 a0007c0017t0003g0362 a0007c0017t0003g0370 a0007c0017t0017g0138 a0007c0017t0110g0140 a0042c0052t0014g0112	16	402	0.0398	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	a0012 a0028 a0012 a0028	a0012c0016 a0012c0029 a0028c0037 a0012c0016 a0012c0029 a0028c0037	a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 others(5): Show a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 a0012c0016t0045 a0012c0016t0046 a0012c0029t0018 a0012c0029t0039 a0028c0037t0014	a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 others(8): Show a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 a0012c0016t0030g0379 a0012c0016t0045g0015 a0012c0016t0046g0014 a0012c0029t0018g0204 a0012c0029t0039g0136 a0012c0029t0039g0137 a0028c0037t0014g0111 a0028c0037t0014g0114	11	402	0.0274	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	a0035 a0035	a0035c0040 a0035c0040	a0035c0040t0006 a0035c0040t0037 a0035c0040t0006 a0035c0040t0037	a0035c0040t0006g0365 a0035c0040t0037g0314 a0035c0040t0006g0365 a0035c0040t0037g0314	2	402	0.0050	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

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Search Results (Total: 1973 hits)