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
CMSS1_chr3_99812862_100186732	99984052	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02630.hp1 others(3): Show HG01891.hp2 HG02109.hp1 HG02630.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 others(3): Show a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0018g0002	6	232	0.0259	18	c.65- others(37): Show c.65-162914_65-162913insGTGTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	410	0.0024	18	c.17 others(29): Show c.1709_*1710insAAAAAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00733.hp2 others(57): Show HG00544.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18963.hp1 NA18973.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19060.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 others(25): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0169 a0001c0001t0003g0186 a0001c0001t0007g0150 a0001c0001t0014g0022 a0001c0001t0014g0092 a0001c0001t0014g0170 a0001c0001t0017g0090 a0001c0001t0025g0084	60	384	0.1563	18	c.62 others(29): Show c.6253_*6254insTTTTTTTTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00735.hp1 others(33): Show HG00544.hp2 HG00609.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02273.hp1 HG02602.hp1 HG02735.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03490.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18972.hp1 NA18979.hp1 NA18989.hp1 NA19005.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0068 others(33): Show a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0006g0043	36	368	0.0978	18	c.160 others(37): Show c.160-11142_160-11125dupTGTGTGTGTGTGTGTGTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430714	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18964.hp2 NA18966.hp1 others(6): Show HG01952.hp1 NA18964.hp2 NA18966.hp1 NA18983.hp2 NA18984.hp2 NA19009.hp2 NA19075.hp1 NA19084.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0230 a0001c0001t0002g0119 a0001c0001t0002g0126 others(6): Show a0001c0001t0001g0230 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0140 a0001c0001t0002g0202 a0001c0001t0002g0348 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0340	9	368	0.0245	18	c.160 others(37): Show c.160-11125_160-11124insTGTGTGTGTGTGTGTGAG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32457633	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02004.hp2 HG02300.hp2 others(2): Show HG00735.hp1 HG02004.hp2 HG02300.hp2 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0110 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0110 a0001c0001t0001g0252 a0001c0001t0001g0293 a0001c0001t0001g0308	5	368	0.0136	18	c.33 others(29): Show c.3379_*3380insAAAAAAAAAAAAAAAAAA	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding		2106		chr3	TogoVar
CMTM8_chr3_32233680_32375321	32273129	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp1 others(9): Show HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG01978.hp1 HG02602.hp1 NA18747.hp2 NA18941.hp1 NA18978.hp1 NA19005.hp2 NA19009.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0050 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0257 a0004c0005t0001g0007	12	344	0.0349	18	c.147 others(37): Show c.147+34026_147+34043dupGTGTGTGTGTGTGTGTGT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	344	0.0029	18	c.147 others(37): Show c.147+56342_147+56359dupAAAAAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	344	0.0029	18	c.148 others(37): Show c.148-38298_148-38297insATATATATATATATTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0164 a0001c0001t0001g0026 a0001c0001t0001g0164	2	344	0.0058	18	c.148 others(37): Show c.148-38298_148-38297insATATATATATATTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	344	0.0029	18	c.148 others(37): Show c.148-38298_148-38297insATATATATATTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32348529	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp1 others(20): Show HG00423.hp2 HG00544.hp1 HG00609.hp1 HG01081.hp1 HG01515.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 NA18939.hp2 NA18941.hp2 NA18962.hp2 NA18966.hp1 NA18975.hp2 NA18985.hp1 NA18986.hp2 NA19005.hp2 NA19012.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0050 others(20): Show a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0184 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0002g0207 a0001c0001t0002g0220	23	344	0.0669	18	c.148 others(35): Show c.148-8831_148-8830insTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361285	A A	AGTTTGTT others(11): Show AGTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	344	0.0029	18	c.321 others(35): Show c.321+3743_321+3744insGTTTTTTTTTTTTTGTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(11): Show GTTTGTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(33): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG01070.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp2 HG01943.hp2 HG01981.hp1 HG02056.hp1 HG02080.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG03942.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18966.hp2 NA18974.hp1 NA18982.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19060.hp1 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0003t0002	a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 others(33): Show a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0196 a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0325 a0001c0001t0001g0340 a0001c0001t0002g0199 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0006t0001g0311 a0002c0003t0002g0198	36	344	0.1047	18	c.321 others(35): Show c.321+3743_321+3744insGTTTTTTTTTGTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(11): Show GTTTGTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	344	0.0029	18	c.321 others(35): Show c.321+3743_321+3744insGTTTTTTTTTTGTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTGTTT others(11): Show GTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01169.hp2 others(22): Show HG00738.hp2 HG01074.hp2 HG01169.hp2 HG01192.hp2 HG01934.hp1 HG02451.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp2 HG03139.hp1 HG03453.hp2 HG03710.hp2 HG04204.hp2 NA18947.hp1 NA18959.hp1 NA18963.hp2 NA18968.hp2 NA18983.hp1 NA18987.hp2 NA18998.hp1 NA19009.hp2 NA19062.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0002g0206	25	344	0.0727	18	c.321 others(35): Show c.321+3743_321+3744insGTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR2_chr16_71276392_71294402	71289646	A A	AGGGGAGG others(11): Show AGGGGAGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01069.hp2 others(17): Show HG00280.hp2 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01978.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp1 NA18943.hp1 NA18990.hp2 NA19064.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0006 a0004c0005t0006g0006	20	437	0.0458	18	c.-60 others(27): Show c.-608_-591dupCTCCCCCTCCCCCTCCCC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		245		chr16	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00741.hp2 HG03130.hp1 HG00597.hp1 HG00741.hp2 HG03130.hp1	a0001 a0021 a0040 a0001 a0021 a0040	a0001c0013 a0021c0026 a0040c0040 a0001c0013 a0021c0026 a0040c0040	a0001c0013t0002 a0021c0026t0001 a0040c0040t0007 a0001c0013t0002 a0021c0026t0001 a0040c0040t0007	a0001c0013t0002g0204 a0021c0026t0001g0189 a0040c0040t0007g0031 a0001c0013t0002g0204 a0021c0026t0001g0189 a0040c0040t0007g0031	3	358	0.0084	18	c.-96 others(27): Show c.-966_-965insAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp1 HG01981.hp1 others(13): Show HG01175.hp2 HG01361.hp1 HG01981.hp1 HG02523.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18990.hp2 NA19000.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1	a0002 a0004 a0014 others(1): Show a0002 a0004 a0014 a0047	a0002c0002 a0002c0020 a0004c0006 others(3): Show a0002c0002 a0002c0020 a0004c0006 a0014c0027 a0014c0045 a0047c0105	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0020t0001 a0002c0020t0002 a0004c0006t0002 a0014c0027t0002 a0014c0045t0002 a0047c0105t0001	a0002c0002t0001g0222 a0002c0002t0001g0253 a0002c0002t0001g0324 others(13): Show a0002c0002t0001g0222 a0002c0002t0001g0253 a0002c0002t0001g0324 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0159 a0002c0002t0002g0229 a0002c0002t0002g0238 a0002c0002t0006g0120 a0002c0002t0006g0164 a0002c0020t0001g0117 a0002c0020t0002g0121 a0004c0006t0002g0303 a0014c0027t0002g0053 a0014c0045t0002g0194 a0047c0105t0001g0042	16	358	0.0447	18	c.150 others(35): Show c.150-2000_150-1983dupTTTTTTTTTTTTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp1 HG02698.hp2 others(12): Show HG02015.hp2 HG02165.hp1 HG02698.hp2 HG04184.hp2 HG04228.hp2 NA18943.hp2 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18965.hp2 NA18995.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19081.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0025 a0061 a0069	a0001c0001 a0002c0002 a0002c0020 others(5): Show a0001c0001 a0002c0002 a0002c0020 a0003c0003 a0004c0014 a0025c0023 a0061c0053 a0069c0062	a0001c0001t0001 a0002c0002t0002 a0002c0020t0002 others(6): Show a0001c0001t0001 a0002c0002t0002 a0002c0020t0002 a0003c0003t0002 a0004c0014t0002 a0025c0023t0001 a0025c0023t0002 a0061c0053t0001 a0069c0062t0001	a0001c0001t0001g0246 a0002c0002t0002g0209 a0002c0002t0002g0229 others(12): Show a0001c0001t0001g0246 a0002c0002t0002g0209 a0002c0002t0002g0229 a0002c0002t0002g0238 a0002c0002t0002g0288 a0002c0020t0002g0121 a0003c0003t0002g0167 a0004c0014t0002g0119 a0004c0014t0002g0195 a0004c0014t0002g0227 a0004c0014t0002g0244 a0025c0023t0001g0106 a0025c0023t0002g0203 a0061c0053t0001g0155 a0069c0062t0001g0088	15	358	0.0419	18	c.115 others(41): Show c.11556-10152_11556-10135dupGTGTGTGTGTGTGTGTGT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778813	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 NA18977.hp2 others(2): Show HG02451.hp1 HG02965.hp1 NA18977.hp2 NA18979.hp1 NA19084.hp2	a0018 a0030 a0058 a0018 a0030 a0058	a0018c0017 a0030c0095 a0058c0092 a0018c0017 a0030c0095 a0058c0092	a0018c0017t0002 a0030c0095t0003 a0058c0092t0003 a0018c0017t0002 a0030c0095t0003 a0058c0092t0003	a0018c0017t0002g0002 a0018c0017t0002g0068 a0018c0017t0002g0069 others(2): Show a0018c0017t0002g0002 a0018c0017t0002g0068 a0018c0017t0002g0069 a0030c0095t0003g0271 a0058c0092t0003g0263	5	358	0.0140	18	c.115 others(41): Show c.11556-10141_11556-10140insATGTGTGTGTGTGTGTGT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86870189	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 NA19043.hp1 HG00621.hp1 HG00642.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0022 a0001c0001t0001g0076 a0001c0001t0001g0078	3	152	0.0197	18	c.88+ others(33): Show c.88+3606_88+3607insCTTTTTTTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/10			chr8	TogoVar
CNBD1_chr8_86861415_87387859	86874986	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	152	0.0066	18	c.88+ others(33): Show c.88+8421_88+8438dupATATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86874986	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0008 a0004c0003t0001g0009 a0004c0003t0001g0008 a0004c0003t0001g0009	2	152	0.0132	18	c.88+ others(33): Show c.88+8404_88+8405insTTATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87087234	C C	CATATATA others(11): Show CATATATATATACGTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0040	1	152	0.0066	18	c.432 others(39): Show c.432-118749_432-118732dupTACGTATATATATATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG01981.hp2 others(5): Show HG00621.hp2 HG01175.hp1 HG01981.hp2 HG02155.hp2 HG02717.hp1 HG04115.hp2 NA18946.hp1 NA18988.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0138 a0003c0004t0001g0145	8	152	0.0526	18	c.432 others(37): Show c.432-76919_432-76902dupAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87241268	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	152	0.0066	18	c.771 others(35): Show c.771+4162_771+4179dupTTTTTTTTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(28): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02257.hp2 HG02280.hp1 HG02647.hp2 HG02683.hp1 HG02970.hp1 HG03516.hp1 HG03516.hp2 HG04115.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18950.hp1 NA18975.hp1 NA18984.hp1 NA19055.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0027 a0001c0002t0028 a0001c0002t0040	a0001c0001t0001g0028 a0001c0001t0001g0321 a0001c0001t0001g0323 others(27): Show a0001c0001t0001g0028 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0004g0326 a0001c0002t0005g0337 a0001c0002t0005g0338 a0001c0002t0005g0339 a0001c0002t0005g0340 a0001c0002t0005g0341 a0001c0002t0005g0342 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0005g0345 a0001c0002t0005g0346 a0001c0002t0013g0336 a0001c0002t0017g0377 a0001c0002t0017g0378 a0001c0002t0019g0333 a0001c0002t0022g0322 a0001c0002t0027g0334 a0001c0002t0028g0335 a0001c0002t0040g0376	31	430	0.0721	18	c.-15 others(35): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNDP1_chr18_74529500_74592212	74551361	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0382 a0002c0004t0005g0382	1	390	0.0026	18	c.25- others(33): Show c.25-4961_25-4944dupCACACACACACACACACA	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCCTTCCT others(11): Show TCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19030.hp1 NA18977.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0022 a0001c0002 a0002c0022	a0001c0002t0005 a0002c0022t0002 a0001c0002t0005 a0002c0022t0002	a0001c0002t0005g0160 a0002c0022t0002g0074 a0001c0002t0005g0160 a0002c0022t0002g0074	2	360	0.0056	18	c.43 others(29): Show c.4375_*4376insGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879814	T T	TCCTTCCT others(11): Show TCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0184 a0001c0002t0005g0184	1	360	0.0028	18	c.43 others(29): Show c.4349_*4350insGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2525		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18959.hp1 NA19063.hp1 HG03834.hp1 NA18959.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0002c0038 a0001c0003 a0002c0006 a0002c0038	a0001c0003t0003 a0002c0006t0013 a0002c0038t0003 a0001c0003t0003 a0002c0006t0013 a0002c0038t0003	a0001c0003t0003g0198 a0002c0006t0013g0083 a0002c0038t0003g0094 a0001c0003t0003g0198 a0002c0006t0013g0083 a0002c0038t0003g0094	3	360	0.0083	18	c.346 others(37): Show c.3463-1118_3463-1101dupAGAGAGAGAGAGAGAGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNGB1_chr16_57877340_57976128	57973399	A A	ATGTGCAT others(11): Show ATGTGCATGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(47): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02523.hp1 HG02735.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 NA18747.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19063.hp1 NA19065.hp1 NA19081.hp2 NA19087.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0008 a0011 a0020 a0031 a0034 a0035 a0048	a0001c0001 a0001c0003 a0001c0013 others(16): Show a0001c0001 a0001c0003 a0001c0013 a0001c0018 a0001c0019 a0001c0035 a0001c0096 a0001c0099 a0002c0005 a0003c0009 a0003c0040 a0005c0034 a0008c0032 a0011c0033 a0020c0118 a0031c0093 a0034c0095 a0035c0094 a0048c0117	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0037 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0013t0019 a0001c0018t0001 a0001c0019t0008 a0001c0035t0028 a0001c0096t0002 a0001c0099t0001 a0002c0005t0001 a0003c0009t0006 a0003c0009t0009 a0003c0009t0039 a0003c0040t0038 a0005c0034t0012 a0008c0032t0006 a0011c0033t0001 a0020c0118t0001 a0031c0093t0001 a0034c0095t0001 a0035c0094t0002 a0048c0117t0026	a0001c0001t0001g0205 a0001c0001t0001g0233 a0001c0001t0001g0237 others(47): Show a0001c0001t0001g0205 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0005g0274 a0001c0001t0005g0277 a0001c0001t0012g0212 a0001c0001t0037g0246 a0001c0003t0001g0214 a0001c0003t0001g0228 a0001c0003t0001g0248 a0001c0003t0001g0259 a0001c0003t0001g0270 a0001c0003t0001g0301 a0001c0003t0002g0201 a0001c0003t0002g0229 a0001c0003t0002g0239 a0001c0003t0002g0244 a0001c0003t0002g0245 a0001c0003t0003g0198 a0001c0003t0003g0215 a0001c0003t0003g0222 a0001c0003t0005g0240 a0001c0003t0006g0219 a0001c0003t0006g0284 a0001c0013t0019g0213 a0001c0018t0001g0297 a0001c0019t0008g0247 a0001c0035t0028g0291 a0001c0096t0002g0293 a0001c0099t0001g0216 a0002c0005t0001g0303 a0003c0009t0006g0217 a0003c0009t0009g0287 a0003c0009t0039g0307 a0003c0040t0038g0203 a0005c0034t0012g0255 a0005c0034t0012g0292 a0008c0032t0006g0221 a0011c0033t0001g0249 a0011c0033t0001g0267 a0020c0118t0001g0302 a0031c0093t0001g0258 a0034c0095t0001g0193 a0035c0094t0002g0295 a0048c0117t0026g0186	50	360	0.1389	18	c.-23 others(29): Show c.-2349_-2348insCACACACACACATGCACA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2272		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57973399	A A	ATGTGCGT others(11): Show ATGTGCGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp1 others(2): Show HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03453.hp1 NA19068.hp2	a0001 a0010 a0029 a0001 a0010 a0029	a0001c0001 a0001c0053 a0010c0010 others(1): Show a0001c0001 a0001c0053 a0010c0010 a0029c0088	a0001c0001t0006 a0001c0053t0004 a0010c0010t0003 others(1): Show a0001c0001t0006 a0001c0053t0004 a0010c0010t0003 a0029c0088t0007	a0001c0001t0006g0242 a0001c0053t0004g0200 a0010c0010t0003g0325 others(2): Show a0001c0001t0006g0242 a0001c0053t0004g0200 a0010c0010t0003g0325 a0010c0010t0003g0328 a0029c0088t0007g0210	5	360	0.0139	18	c.-23 others(29): Show c.-2349_-2348insCACACACACACACGCACA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2272		chr16	TogoVar
CNIH3_chr1_224611317_224745554	224616343	G G	GGCGGCAG others(11): Show GGCGGCAGCGGCAGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0011 a0001c0001t0015g0010 a0001c0001t0015g0011	2	358	0.0056	18	c.-81 others(27): Show c.-818_-817insGGCAGCGGCAGCGGCAGC	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/6	817	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21372464	T T	TATATATA others(11): Show TATATATACACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01258.hp1 HG00609.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0129 a0001c0001t0004g0055 a0001c0001t0004g0129	2	163	0.0123	18	c.-24 others(29): Show c.-2434_-2433insATATATACACATATATAC	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding		1953		chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154409881	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0191 a0001c0001t0077g0191	1	342	0.0029	18	c.136 others(35): Show c.1369+461_1369+462insTTTTTTTTTTTTTTTTTT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	12/12			chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0069 a0001c0002t0039g0069	1	342	0.0029	18	c.946 others(33): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154454082	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0118 a0001c0002t0158 a0001c0002t0118 a0001c0002t0158	a0001c0002t0118g0168 a0001c0002t0158g0169 a0001c0002t0118g0168 a0001c0002t0158g0169	2	342	0.0059	18	c.53- others(33): Show c.53-3842_53-3825dupGTGTGTGTGTGTGTGTGT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154509514	T T	TGCTTTTG others(11): Show TGCTTTTGCGCGGTTGGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18942.hp2 HG02074.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0186 a0001c0001t0093 a0001c0001t0186	a0001c0001t0093g0081 a0001c0001t0186g0080 a0001c0001t0093g0081 a0001c0001t0186g0080	2	342	0.0059	18	c.52+ others(31): Show c.52+548_52+549insCACCAACCGCGCAAAAGC	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNMD_chr13_52698264_52744820	52701802	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01358.hp2 others(30): Show HG00558.hp1 HG00735.hp2 HG01358.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02647.hp1 HG02723.hp2 HG03704.hp2 NA18522.hp1 NA18747.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18983.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19080.hp2 NA19083.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0001g0228	33	330	0.1000	18	c.17 others(29): Show c.1792_*1793insGTGTGTGTGTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1461		chr13	TogoVar
CNMD_chr13_52698264_52744820	52701802	G G	GACACACA others(11): Show GACACACACACACAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	330	0.0030	18	c.17 others(29): Show c.1792_*1793insGTGTCTGTGTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1461		chr13	TogoVar
CNN1_chr19_11533851_11555323	11543463	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02004.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG02004.hp2 NA18962.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0028 a0001c0003t0003g0015 a0001c0001t0002g0028 a0001c0003t0003g0015	5	392	0.0128	18	c.185 others(35): Show c.185+2277_185+2294dupTAATAATAATAATAATAA	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNNM1_chr10_99324356_99399330	99324890	T T	TAATGTAT others(11): Show TAATGTATAAATTCTTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02723.hp2 NA20129.hp1 HG01891.hp1 HG02723.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0195	3	320	0.0094	18	c.-44 others(29): Show c.-4498_-4497insAATGTATAAATTCTTCCA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding		4465		chr10	TogoVar
CNNM1_chr10_99324356_99399330	99347576	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02083.hp1 HG02145.hp2 others(11): Show HG01192.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp1 HG02809.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp1 NA19001.hp1 NA19002.hp1 NA19072.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0001g0305 others(11): Show a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0002g0253 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0003g0143 a0001c0001t0003g0158 a0001c0001t0005g0013 a0001c0001t0005g0159 a0001c0001t0009g0297	14	320	0.0438	18	c.157 others(37): Show c.1574-9930_1574-9913dupCACACACACACACACACA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(11): Show CAGAAAGAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	320	0.0031	18	c.157 others(35): Show c.1574-937_1574-936insAGAAAAGAAAGAAAGAAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356564	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01433.hp1 others(1): Show HG00735.hp2 HG01070.hp2 HG01433.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0117 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0004t0001g0116	4	320	0.0125	18	c.157 others(35): Show c.1574-933_1574-932insAGAAAAGAAAGAAAGAAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356600	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	320	0.0031	18	c.157 others(35): Show c.1574-905_1574-904insGAAAGAAAAGAAAAGAAA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102916045	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG03098.hp2 HG00408.hp2 HG01255.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0012 a0001c0001t0019	a0001c0001t0012g0020 a0001c0001t0012g0041 a0001c0001t0019g0001 a0001c0001t0012g0020 a0001c0001t0012g0041 a0001c0001t0019g0001	3	270	0.0111	18	c.-24 others(29): Show c.-2436_-2435insATATATATATATATATAT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding		2248		chr10	TogoVar
CNNM2_chr10_102913294_103095222	102917949	A A	AGGGGCCC others(11): Show AGGGGCCCCTGGGGAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	270	0.0037	18	c.-53 others(27): Show c.-532_-531insGGGGCCCCTGGGGAGCGC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding		344		chr10	TogoVar

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