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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHD4_chr12_6565082_6612379	6606427	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(131): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp1 NA18989.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0016 a0001c0017 a0003c0006 a0005c0015	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0004t0006 a0001c0013t0002 a0001c0016t0003 a0001c0017t0003 a0003c0006t0002 a0005c0015t0002	a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 others(106): Show a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0294 a0001c0002t0003g0078 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0003t0002g0095 a0001c0003t0003g0002 a0001c0003t0003g0005 a0001c0003t0003g0010 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0102 a0001c0003t0003g0104 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0117 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0005g0094 a0001c0003t0005g0103 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0062 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0004t0002g0076 a0001c0004t0002g0277 a0001c0004t0002g0295 a0001c0004t0006g0039 a0001c0013t0002g0053 a0001c0016t0003g0098 a0001c0017t0003g0296 a0003c0006t0002g0042 a0003c0006t0002g0043 a0003c0006t0002g0044 a0003c0006t0002g0045 a0003c0006t0002g0046 a0003c0006t0002g0047 a0003c0006t0002g0048 a0005c0015t0002g0049	134	374	0.3583	0	c.-54 others(3): Show c.-54T>C	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	2/40	54		chr12	TogoVar
CHD4_chr12_6565082_6612379	6607344	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0039 a0001c0004t0006g0039	1	374	0.0027	0	c.-12 others(4): Show c.-123G>C	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	1/40	971		chr12	TogoVar
CHD5_chr1_6096787_6185321	6180053	G G	GC GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02055.hp1 others(13): Show HG01167.hp1 HG01884.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp2 HG02738.hp1 HG02976.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03927.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(7): Show a0001c0001 a0001c0004 a0001c0009 a0001c0010 a0001c0014 a0001c0023 a0001c0029 a0001c0044 a0002c0012 a0002c0047	a0001c0001t0077 a0001c0001t0084 a0001c0004t0075 others(10): Show a0001c0001t0077 a0001c0001t0084 a0001c0004t0075 a0001c0004t0083 a0001c0009t0079 a0001c0010t0080 a0001c0014t0033 a0001c0014t0081 a0001c0023t0074 a0001c0029t0076 a0001c0044t0082 a0002c0012t0025 a0002c0047t0078	a0001c0001t0077g0301 a0001c0001t0084g0310 a0001c0004t0075g0300 others(13): Show a0001c0001t0077g0301 a0001c0001t0084g0310 a0001c0004t0075g0300 a0001c0004t0083g0311 a0001c0009t0079g0308 a0001c0010t0080g0303 a0001c0014t0033g0304 a0001c0014t0033g0305 a0001c0014t0081g0307 a0001c0023t0074g0315 a0001c0029t0076g0309 a0001c0044t0082g0313 a0002c0012t0025g0302 a0002c0012t0025g0306 a0002c0012t0025g0312 a0002c0047t0078g0314	16	320	0.0500	1	c.-31 others(4): Show c.-31dupG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	31		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180115	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02293.hp1 HG02622.hp1 others(3): Show HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0002c0002 a0001c0005 a0001c0007 a0002c0002	a0001c0005t0043 a0001c0007t0044 a0002c0002t0020 others(1): Show a0001c0005t0043 a0001c0007t0044 a0002c0002t0020 a0002c0002t0045	a0001c0005t0043g0017 a0001c0007t0044g0016 a0002c0002t0020g0018 others(3): Show a0001c0005t0043g0017 a0001c0007t0044g0016 a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0020g0021 a0002c0002t0045g0020	6	320	0.0188	0	c.-92 others(3): Show c.-92C>A	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	92		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180138	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0015 a0001c0013t0042g0015	1	320	0.0031	0	c.-11 others(4): Show c.-115C>T	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	115		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180139	A A	ACAAGAGA others(36): Show ACAAGAGAAAAAAGATAGGGGAAAAAAAAAAAGATCATAGACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0015 a0001c0013t0042g0015	1	320	0.0031	43	c.-11 others(52): Show c.-117_-116insGTGTCTATGATCTTTTTTTTTTTCCCCTATCTTTTT TCTCTTG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	117		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180142	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0015 a0001c0013t0042g0015	1	320	0.0031	0	c.-11 others(4): Show c.-119T>C	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	119		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180210	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02723.hp1 others(3): Show HG01109.hp1 HG02647.hp1 HG02723.hp1 HG03041.hp2 HG03209.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0006 a0001c0009 a0002c0006	a0001c0009t0039 a0001c0009t0041 a0002c0006t0019 others(1): Show a0001c0009t0039 a0001c0009t0041 a0002c0006t0019 a0002c0006t0040	a0001c0009t0039g0013 a0001c0009t0041g0014 a0002c0006t0019g0010 others(3): Show a0001c0009t0039g0013 a0001c0009t0041g0014 a0002c0006t0019g0010 a0002c0006t0019g0011 a0002c0006t0019g0012 a0002c0006t0040g0009	6	320	0.0188	0	c.-18 others(4): Show c.-187G>A	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	187		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180236	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19009.hp2 NA19081.hp2 NA19083.hp1 NA19009.hp2 NA19081.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0038 a0001c0003t0036 a0001c0008t0037 a0001c0001t0038 a0001c0003t0036 a0001c0008t0037	a0001c0001t0038g0006 a0001c0003t0036g0008 a0001c0008t0037g0007 a0001c0001t0038g0006 a0001c0003t0036g0008 a0001c0008t0037g0007	3	320	0.0094	0	c.-21 others(4): Show c.-213G>C	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	213		chr1	TogoVar
CHD5_chr1_6096787_6185321	6180305	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 NA19043.hp1 HG01891.hp2 NA19043.hp1	a0001 a0001	a0001c0031 a0001c0038 a0001c0031 a0001c0038	a0001c0031t0034 a0001c0038t0035 a0001c0031t0034 a0001c0038t0035	a0001c0031t0034g0004 a0001c0038t0035g0005 a0001c0031t0034g0004 a0001c0038t0035g0005	2	320	0.0063	0	c.-28 others(4): Show c.-282G>A	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/42	282		chr1	TogoVar
CHD7_chr8_60673740_60873028	60678744	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01069.hp1 others(25): Show HG00099.hp1 HG00735.hp2 HG01069.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0014	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0016 a0001c0018 a0001c0021 a0002c0009 a0010c0017 a0014c0030	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(12): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0049 a0001c0002t0005 a0001c0002t0050 a0001c0002t0051 a0001c0006t0016 a0001c0007t0005 a0001c0016t0005 a0001c0018t0005 a0001c0021t0012 a0002c0009t0013 a0010c0017t0005 a0014c0030t0016	a0001c0001t0012g0097 a0001c0001t0012g0102 a0001c0001t0012g0112 others(25): Show a0001c0001t0012g0097 a0001c0001t0012g0102 a0001c0001t0012g0112 a0001c0001t0013g0032 a0001c0001t0013g0100 a0001c0001t0016g0105 a0001c0001t0049g0029 a0001c0002t0005g0098 a0001c0002t0005g0101 a0001c0002t0005g0111 a0001c0002t0005g0162 a0001c0002t0005g0164 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0183 a0001c0002t0050g0163 a0001c0002t0051g0030 a0001c0006t0016g0120 a0001c0007t0005g0099 a0001c0016t0005g0121 a0001c0018t0005g0184 a0001c0021t0012g0031 a0002c0009t0013g0103 a0002c0009t0013g0104 a0010c0017t0005g0113 a0014c0030t0016g0033	28	236	0.1186	0	c.-51 others(4): Show c.-513A>G	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62689		chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCG CGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(9): Show a0001 a0002 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0006 others(23): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0027 a0001c0032 a0001c0033 a0001c0036 a0001c0038 a0002c0009 a0009c0023 a0010c0017 a0011c0026 a0013c0012 a0014c0030 a0015c0015 a0016c0031 a0017c0034 a0018c0014 a0019c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0002t0005 a0001c0002t0006 a0001c0002t0029 a0001c0006t0006 a0001c0006t0016 a0001c0007t0005 a0001c0008t0010 a0001c0010t0007 a0001c0010t0011 a0001c0016t0005 a0001c0018t0005 a0001c0019t0010 a0001c0021t0012 a0001c0027t0027 a0001c0032t0028 a0001c0033t0001 a0001c0036t0026 a0001c0038t0010 a0002c0009t0013 a0009c0023t0001 a0010c0017t0005 a0011c0026t0007 a0013c0012t0024 a0014c0030t0016 a0015c0015t0010 a0016c0031t0003 a0017c0034t0007 a0018c0014t0003 a0019c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(129): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0232 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0148 a0001c0001t0007g0002 a0001c0001t0007g0042 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0208 a0001c0001t0007g0223 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0226 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0011g0077 a0001c0001t0011g0083 a0001c0001t0011g0090 a0001c0001t0012g0097 a0001c0001t0012g0102 a0001c0001t0012g0112 a0001c0001t0013g0032 a0001c0001t0013g0100 a0001c0001t0016g0105 a0001c0001t0025g0142 a0001c0002t0005g0098 a0001c0002t0005g0101 a0001c0002t0005g0111 a0001c0002t0005g0162 a0001c0002t0005g0164 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0183 a0001c0002t0006g0013 a0001c0002t0006g0026 a0001c0002t0006g0070 a0001c0002t0006g0073 a0001c0002t0006g0091 a0001c0002t0006g0109 a0001c0002t0006g0114 a0001c0002t0006g0156 a0001c0002t0006g0218 a0001c0002t0006g0230 a0001c0002t0006g0234 a0001c0002t0006g0235 a0001c0002t0029g0088 a0001c0006t0006g0096 a0001c0006t0016g0120 a0001c0007t0005g0099 a0001c0008t0010g0236 a0001c0010t0007g0056 a0001c0010t0011g0159 a0001c0016t0005g0121 a0001c0018t0005g0184 a0001c0019t0010g0043 a0001c0021t0012g0031 a0001c0027t0027g0185 a0001c0032t0028g0174 a0001c0033t0001g0010 a0001c0036t0026g0106 a0001c0038t0010g0169 a0002c0009t0013g0103 a0002c0009t0013g0104 a0009c0023t0001g0009 a0010c0017t0005g0113 a0011c0026t0007g0041 a0013c0012t0024g0187 a0014c0030t0016g0033 a0015c0015t0010g0222 a0016c0031t0003g0018 a0017c0034t0007g0015 a0018c0014t0003g0017 a0019c0013t0001g0012	132	236	0.5593	3	c.-46 others(12): Show c.-469_-467dupGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCG CGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01243.hp1 others(35): Show HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp2 HG02559.hp2 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp2 HG03540.hp2 NA18954.hp2 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA19004.hp2 NA19009.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0024 a0003c0035 a0004c0029 a0005c0020 a0012c0022	a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 others(13): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0031 a0001c0001t0039 a0001c0001t0049 a0001c0002t0050 a0001c0003t0004 a0001c0003t0030 a0001c0008t0014 a0001c0024t0004 a0003c0035t0038 a0004c0029t0008 a0005c0020t0004 a0012c0022t0008	a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0045 others(35): Show a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0045 a0001c0001t0004g0064 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0139 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0008g0034 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0124 a0001c0001t0014g0221 a0001c0001t0014g0233 a0001c0001t0021g0023 a0001c0001t0021g0094 a0001c0001t0031g0140 a0001c0001t0039g0220 a0001c0001t0049g0029 a0001c0002t0050g0163 a0001c0003t0004g0107 a0001c0003t0004g0108 a0001c0003t0004g0171 a0001c0003t0004g0172 a0001c0003t0004g0186 a0001c0003t0030g0173 a0001c0008t0014g0122 a0001c0024t0004g0146 a0003c0035t0038g0219 a0004c0029t0008g0150 a0005c0020t0004g0136 a0012c0022t0008g0063	38	236	0.1610	6	c.-47 others(15): Show c.-472_-467dupGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(2): Show CGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02735.hp1 NA18952.hp2 others(4): Show HG02451.hp2 HG02735.hp1 NA18952.hp2 NA19072.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0032 a0001c0001t0040 others(2): Show a0001c0001t0015 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042	a0001c0001t0015g0035 a0001c0001t0015g0130 a0001c0001t0015g0137 others(4): Show a0001c0001t0015g0035 a0001c0001t0015g0130 a0001c0001t0015g0137 a0001c0001t0032g0016 a0001c0001t0040g0177 a0001c0001t0041g0132 a0001c0001t0042g0055	7	236	0.0297	9	c.-47 others(18): Show c.-475_-467dupGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(5): Show CGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 NA19057.hp2 HG01192.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0034 a0001c0002t0051 a0001c0001t0034 a0001c0002t0051	a0001c0001t0034g0126 a0001c0002t0051g0030 a0001c0001t0034g0126 a0001c0002t0051g0030	2	236	0.0085	12	c.-47 others(21): Show c.-478_-467dupGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(11): Show CGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04199.hp1 NA18985.hp2 NA19043.hp1 HG04199.hp1 NA18985.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0043 a0001c0001t0044 a0001c0007t0035 a0001c0001t0043 a0001c0001t0044 a0001c0007t0035	a0001c0001t0043g0039 a0001c0001t0044g0001 a0001c0007t0035g0160 a0001c0001t0043g0039 a0001c0001t0044g0001 a0001c0007t0035g0160	3	236	0.0127	18	c.-48 others(27): Show c.-484_-467dupGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(20): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18962.hp2 NA19077.hp2 NA18962.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0128 a0001c0001t0046g0138 a0001c0001t0045g0128 a0001c0001t0046g0138	2	236	0.0085	27	c.-46 others(36): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(23): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0065 a0001c0001t0047g0065	1	236	0.0042	30	c.-46 others(39): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(35): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0044 a0001c0001t0048g0044	1	236	0.0042	42	c.-46 others(51): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678770	G G	GGCGGCGG others(29): Show GGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0144 a0001c0001t0022g0144	1	236	0.0042	36	c.-47 others(45): Show c.-473_-472insAGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62648	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678770	G G	GGCGGCGG others(38): Show GGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0084 a0001c0002t0020g0085 a0001c0002t0020g0084 a0001c0002t0020g0085	2	236	0.0085	45	c.-46 others(54): Show c.-467_-466insGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGC GGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678773	G G	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0213 a0001c0001t0023g0213	1	236	0.0042	21	c.-46 others(30): Show c.-467_-466insGGCAGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678779	GGCGGCGG others(5): Show GGCGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0008 a0001c0001t0033g0008	1	236	0.0042	-12	c.-46 others(21): Show c.-466_-455delAGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62631	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD7_chr8_60673740_60873028	60678791	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02451.hp2 HG03130.hp2 others(11): Show HG01192.hp1 HG02451.hp2 HG03130.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18952.hp2 NA18962.hp2 NA18985.hp2 NA19010.hp2 NA19077.hp2 NA19087.hp2 NA20300.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0003c0035 others(2): Show a0001c0001 a0001c0002 a0003c0035 a0006c0037 a0008c0028	a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 others(11): Show a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0051 a0003c0035t0038 a0006c0037t0036 a0008c0028t0037	a0001c0001t0039g0220 a0001c0001t0040g0177 a0001c0001t0041g0132 others(11): Show a0001c0001t0039g0220 a0001c0001t0040g0177 a0001c0001t0041g0132 a0001c0001t0042g0055 a0001c0001t0043g0039 a0001c0001t0044g0001 a0001c0001t0045g0128 a0001c0001t0046g0138 a0001c0001t0047g0065 a0001c0001t0048g0044 a0001c0002t0051g0030 a0003c0035t0038g0219 a0006c0037t0036g0214 a0008c0028t0037g0170	14	236	0.0593	0	c.-46 others(4): Show c.-466A>G	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642		chr8	TogoVar
CHD7_chr8_60673740_60873028	60678818	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0160 a0001c0007t0035g0160	1	236	0.0042	0	c.-43 others(4): Show c.-439G>A	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62615		chr8	TogoVar
CHD8_chr14_21380199_21461123	21456038	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0043	1	260	0.0039	0	c.-22 others(4): Show c.-222T>C	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/38	24395		chr14	TogoVar
CHD8_chr14_21380199_21461123	21456048	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(38): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01258.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG06807.hp1 NA18960.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0006c0012 a0008c0017	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0005t0002 a0001c0013t0002 a0006c0012t0002 a0008c0017t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0005g0030 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0005t0002g0036 a0001c0005t0002g0037 a0001c0005t0002g0042 a0001c0013t0002g0026 a0006c0012t0002g0021 a0008c0017t0002g0029	41	260	0.1577	0	c.-23 others(4): Show c.-232T>C	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/38	24405		chr14	TogoVar
CHD9NB_chr16_53036484_53057897	53044178	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0068 a0001c0001t0065g0068	1	406	0.0025	0	c.-20 others(3): Show c.-20A>G	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	3/3	20		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53044238	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0167 a0001c0001t0045g0167	1	406	0.0025	0	c.-80 others(3): Show c.-80G>A	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	3/3	80		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53044258	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02723.hp2 others(2): Show HG02145.hp2 HG02486.hp2 HG02723.hp2 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0043 a0001c0001t0044 a0001c0001t0018 a0001c0001t0043 a0001c0001t0044	a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0018g0114 others(2): Show a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0018g0114 a0001c0001t0043g0113 a0001c0001t0044g0110	5	406	0.0123	0	c.-10 others(4): Show c.-100C>T	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	3/3	100		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53044259	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(138): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(29): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 others(93): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0078 a0001c0001t0006g0083 a0001c0001t0006g0094 a0001c0001t0006g0098 a0001c0001t0006g0109 a0001c0001t0006g0116 a0001c0001t0006g0208 a0001c0001t0006g0216 a0001c0001t0008g0025 a0001c0001t0008g0059 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0069 a0001c0001t0008g0073 a0001c0001t0008g0213 a0001c0001t0009g0028 a0001c0001t0009g0033 a0001c0001t0009g0047 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0010g0019 a0001c0001t0010g0058 a0001c0001t0010g0064 a0001c0001t0010g0092 a0001c0001t0012g0032 a0001c0001t0012g0102 a0001c0001t0012g0105 a0001c0001t0012g0107 a0001c0001t0013g0029 a0001c0001t0013g0071 a0001c0001t0013g0211 a0001c0001t0016g0024 a0001c0001t0016g0087 a0001c0001t0017g0031 a0001c0001t0017g0075 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0018g0114 a0001c0001t0019g0067 a0001c0001t0019g0115 a0001c0001t0020g0096 a0001c0001t0020g0214 a0001c0001t0025g0072 a0001c0001t0026g0086 a0001c0001t0027g0085 a0001c0001t0028g0218 a0001c0001t0029g0210 a0001c0001t0030g0209 a0001c0001t0031g0215 a0001c0001t0032g0088 a0001c0001t0033g0089 a0001c0001t0034g0090 a0001c0001t0035g0060 a0001c0001t0036g0212 a0001c0001t0037g0103 a0001c0001t0038g0101 a0001c0001t0039g0217 a0001c0001t0040g0117 a0001c0001t0041g0056 a0001c0001t0042g0099 a0001c0001t0043g0113 a0001c0001t0044g0110	141	406	0.3473	0	c.-10 others(4): Show c.-101G>C	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	3/3	101		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53047209	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0200 a0002c0002t0066g0200	1	406	0.0025	0	c.-11 others(4): Show c.-110A>G	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	2/3	3051		chr16	TogoVar
CHD9NB_chr16_53036484_53057897	53047232	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0201 a0002c0002t0067g0201	1	406	0.0025	0	c.-13 others(4): Show c.-133C>T	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	2/3	3074		chr16	TogoVar
CHD9_chr16_53049991_53332497	53156028	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0101 a0001c0001t0020g0101	1	238	0.0042	0	c.-62 others(3): Show c.-62A>C	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/39	62		chr16	TogoVar
CHD9_chr16_53049991_53332497	53156029	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02970.hp1 others(6): Show HG02257.hp2 HG02622.hp2 HG02970.hp1 HG03688.hp2 HG04184.hp2 NA18981.hp2 NA19068.hp1 NA19088.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0018 a0001c0005 a0009c0018	a0001c0005t0005 a0001c0005t0011 a0009c0018t0005 a0001c0005t0005 a0001c0005t0011 a0009c0018t0005	a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 others(6): Show a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 a0001c0005t0005g0061 a0001c0005t0005g0089 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0009c0018t0005g0155	9	238	0.0378	0	c.-61 others(3): Show c.-61T>C	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/39	61		chr16	TogoVar
CHDH_chr3_53807335_53851419	53846113	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0083 a0002c0002t0083	a0002c0002t0083g0080 a0002c0002t0083g0080	1	392	0.0026	0	c.-16 others(4): Show c.-161G>A	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	22105		chr3	TogoVar
CHDH_chr3_53807335_53851419	53846205	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0342 a0001c0001t0181g0342	1	392	0.0026	0	c.-25 others(4): Show c.-253C>G	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	22197		chr3	TogoVar
CHDH_chr3_53807335_53851419	53846219	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0082	a0002c0002t0082g0079 a0002c0002t0082g0079	1	392	0.0026	0	c.-26 others(4): Show c.-267G>A	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	22211		chr3	TogoVar
CHDH_chr3_53807335_53851419	53846340	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01070.hp1 others(45): Show HG00408.hp2 HG00639.hp1 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp1 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 HG04204.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp2 NA18959.hp1 NA18966.hp2 NA18972.hp1 NA18981.hp1 NA18982.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19043.hp2 NA19058.hp1 NA19070.hp2 NA19084.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0004 a0005c0019	a0001c0001t0066 a0001c0001t0077 a0001c0003t0022 others(27): Show a0001c0001t0066 a0001c0001t0077 a0001c0003t0022 a0001c0003t0031 a0001c0003t0068 a0001c0003t0076 a0001c0003t0078 a0001c0003t0079 a0001c0003t0080 a0001c0003t0081 a0001c0009t0060 a0002c0002t0005 a0002c0002t0011 a0002c0002t0012 a0002c0002t0030 a0002c0002t0032 a0002c0002t0059 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0065 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0003c0004t0064 a0003c0004t0069 a0003c0004t0070 a0003c0004t0071 a0003c0004t0072 a0005c0019t0067	a0001c0001t0066g0046 a0001c0001t0077g0050 a0001c0003t0022g0053 others(42): Show a0001c0001t0066g0046 a0001c0001t0077g0050 a0001c0003t0022g0053 a0001c0003t0022g0055 a0001c0003t0022g0065 a0001c0003t0031g0010 a0001c0003t0068g0044 a0001c0003t0076g0054 a0001c0003t0078g0077 a0001c0003t0079g0041 a0001c0003t0080g0042 a0001c0003t0081g0040 a0001c0009t0060g0043 a0002c0002t0005g0011 a0002c0002t0005g0057 a0002c0002t0005g0069 a0002c0002t0005g0073 a0002c0002t0005g0075 a0002c0002t0011g0056 a0002c0002t0011g0061 a0002c0002t0011g0062 a0002c0002t0011g0068 a0002c0002t0011g0072 a0002c0002t0012g0052 a0002c0002t0012g0063 a0002c0002t0012g0066 a0002c0002t0012g0070 a0002c0002t0012g0071 a0002c0002t0030g0060 a0002c0002t0030g0064 a0002c0002t0032g0012 a0002c0002t0059g0067 a0002c0002t0061g0076 a0002c0002t0062g0058 a0002c0002t0063g0059 a0002c0002t0065g0038 a0002c0002t0073g0039 a0002c0002t0074g0037 a0002c0002t0075g0074 a0003c0004t0064g0078 a0003c0004t0069g0051 a0003c0004t0070g0049 a0003c0004t0071g0048 a0003c0004t0072g0047 a0005c0019t0067g0045	48	392	0.1225	0	c.-38 others(4): Show c.-388C>A	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	22332		chr3	TogoVar
CHDH_chr3_53807335_53851419	53846402	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0036 a0002c0002t0058g0036	1	392	0.0026	0	c.-45 others(4): Show c.-450G>C	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	1/9	22394		chr3	TogoVar
CHEK1_chr11_125620163_125662147	125625183	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp2 others(34): Show HG00438.hp1 HG00642.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA19003.hp1 NA19078.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0003c0003t0005	a0001c0001t0005g0008 a0001c0001t0005g0044 a0001c0001t0005g0045 others(24): Show a0001c0001t0005g0008 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0013g0233 a0001c0001t0013g0234 a0001c0001t0023g0238 a0003c0003t0005g0045	37	384	0.0964	0	c.-85 others(4): Show c.-850C>T	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1586		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625314	A A	AC AC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(115): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(86): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0008g0043 a0001c0001t0008g0223 a0001c0001t0010g0040 a0001c0001t0010g0202 a0001c0001t0014g0247 a0001c0001t0015g0039 a0001c0001t0016g0183 a0001c0001t0017g0179 a0001c0001t0018g0198 a0001c0004t0001g0163	118	384	0.3073	1	c.-71 others(5): Show c.-718dupC	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1453	INFO_REALIGN_3_PRIME	chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625316	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(115): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19078.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(86): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0008g0043 a0001c0001t0008g0223 a0001c0001t0010g0040 a0001c0001t0010g0202 a0001c0001t0014g0247 a0001c0001t0015g0039 a0001c0001t0016g0183 a0001c0001t0017g0179 a0001c0001t0018g0198 a0001c0004t0001g0163	118	384	0.3073	0	c.-71 others(4): Show c.-717T>C	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1453		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625369	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(154): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0022	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(80): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0225 a0001c0001t0007g0024 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0022g0110	157	384	0.4089	0	c.-66 others(4): Show c.-664C>T	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1400		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625471	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0247 a0001c0001t0014g0247	1	384	0.0026	0	c.-56 others(4): Show c.-562C>A	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1298		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625479	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0198 a0001c0001t0018g0198	1	384	0.0026	0	c.-55 others(4): Show c.-554G>T	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1290		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625626	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(88): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19067.hp1 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(47): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0006g0080 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0116 a0001c0001t0006g0118 a0001c0001t0007g0024 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0021g0115	91	384	0.2370	0	c.-40 others(4): Show c.-407G>T	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1143		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625731	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0233 a0001c0001t0013g0234 a0001c0001t0013g0233 a0001c0001t0013g0234	2	384	0.0052	0	c.-30 others(4): Show c.-302A>C	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	1038		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625780	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0238 a0001c0001t0023g0238	1	384	0.0026	0	c.-25 others(4): Show c.-253A>T	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	989		chr11	TogoVar
CHEK1_chr11_125620163_125662147	125625824	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 NA19240.hp1 NA20129.hp1 HG03209.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0223 a0001c0001t0008g0043 a0001c0001t0008g0223	3	384	0.0078	0	c.-20 others(4): Show c.-209G>A	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding	1/13	945		chr11	TogoVar

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