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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
MBNL2_chr13_97217333_97399120	97291943	CTGTAATC others(8): Show CTGTAATCCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	254	0.0039	-15	c.174 others(34): Show c.174+15536_174+15550delGTAATCCCAGCACTT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132408092	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02647.hp1 others(6): Show HG02258.hp1 HG02280.hp2 HG02647.hp1 HG03453.hp2 HG03471.hp1 HG03688.hp1 NA18970.hp1 NA18995.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0035	a0001c0001t0001g0073 a0001c0001t0005g0094 a0001c0001t0006g0095 others(6): Show a0001c0001t0001g0073 a0001c0001t0005g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0010g0108 a0001c0001t0018g0099 a0001c0001t0020g0117 a0001c0001t0035g0189	9	191	0.0471	-15	c.178 others(32): Show c.178-1715_178-1701delAAAAAAAAAAAAAAA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	2/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20168599	GAGAGAAG others(8): Show GAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(136): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18982.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0078 a0001c0008t0011 a0002c0002t0020 a0002c0002t0032 a0002c0002t0033 a0002c0011t0020 a0003c0003t0001 a0003c0003t0037 a0004c0004t0072 a0006c0010t0076	a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0040 others(136): Show a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0045 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0131 a0001c0001t0002g0161 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0264 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0056 a0001c0001t0003g0087 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0148 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0003g0177 a0001c0001t0003g0242 a0001c0001t0003g0261 a0001c0001t0003g0288 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0004g0088 a0001c0001t0004g0106 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0173 a0001c0001t0004g0203 a0001c0001t0004g0227 a0001c0001t0004g0239 a0001c0001t0004g0262 a0001c0001t0004g0267 a0001c0001t0004g0272 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0067 a0001c0001t0005g0118 a0001c0001t0005g0144 a0001c0001t0005g0174 a0001c0001t0005g0182 a0001c0001t0005g0195 a0001c0001t0005g0210 a0001c0001t0006g0028 a0001c0001t0006g0155 a0001c0001t0006g0180 a0001c0001t0006g0212 a0001c0001t0006g0260 a0001c0001t0007g0035 a0001c0001t0007g0119 a0001c0001t0007g0172 a0001c0001t0008g0129 a0001c0001t0008g0257 a0001c0001t0009g0243 a0001c0001t0010g0256 a0001c0001t0010g0263 a0001c0001t0010g0270 a0001c0001t0012g0049 a0001c0001t0012g0187 a0001c0001t0012g0240 a0001c0001t0013g0064 a0001c0001t0013g0069 a0001c0001t0013g0168 a0001c0001t0016g0006 a0001c0001t0016g0160 a0001c0001t0016g0266 a0001c0001t0017g0158 a0001c0001t0017g0236 a0001c0001t0018g0293 a0001c0001t0018g0295 a0001c0001t0021g0120 a0001c0001t0021g0207 a0001c0001t0022g0259 a0001c0001t0025g0005 a0001c0001t0035g0013 a0001c0001t0042g0039 a0001c0001t0043g0196 a0001c0001t0045g0185 a0001c0001t0046g0038 a0001c0001t0047g0181 a0001c0001t0048g0184 a0001c0001t0055g0071 a0001c0001t0058g0294 a0001c0001t0059g0290 a0001c0001t0060g0296 a0001c0001t0061g0297 a0001c0001t0078g0334 a0001c0008t0011g0130 a0002c0002t0020g0322 a0002c0002t0032g0323 a0002c0002t0033g0332 a0002c0011t0020g0328 a0003c0003t0001g0015 a0003c0003t0001g0286 a0003c0003t0037g0134 a0004c0004t0072g0319 a0006c0010t0076g0320	139	336	0.4137	-15	c.100 others(34): Show c.100-15845_100-15831delTCTCTTCTCTTCTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20212386	CGGCGCAA others(8): Show CGGCGCAAACTCTCGA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0070 a0002c0002t0069 a0002c0002t0070	a0002c0002t0069g0305 a0002c0002t0070g0306 a0002c0002t0069g0305 a0002c0002t0070g0306	2	336	0.0060	-15	c.-16 others(24): Show c.-167_-153delTCGAGAGTTTGCGCC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/13	153		chr6	TogoVar
MBOAT7_chr19_54168415_54194580	54168793	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01496.hp1 others(10): Show HG00323.hp2 HG01081.hp1 HG01496.hp1 HG02055.hp2 HG02071.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0008t0002 a0002c0004t0002	a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0155 others(10): Show a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0155 a0001c0001t0002g0234 a0001c0001t0002g0315 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0187 a0001c0002t0002g0217 a0001c0002t0004g0113 a0001c0008t0002g0122 a0001c0008t0002g0123 a0002c0004t0002g0261	13	373	0.0349	-15	c.52 others(26): Show c.5236_*5250delAGAAAAGAAAAGAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4621		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54173178	GGCCAGGG others(8): Show GGCCAGGGGCAGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00738.hp1 others(9): Show HG00099.hp1 HG00280.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01361.hp1 HG02738.hp2 HG03239.hp2 HG03669.hp2 HG03927.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0273 a0001c0001t0001g0289 a0002c0003t0001g0085	12	373	0.0322	-15	c.85 others(24): Show c.851_*865delACACCTGCCCCTGGC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		236		chr19	TogoVar
MBP_chr18_76973833_77137783	76975170	CTTTTCTT others(8): Show CTTTTCTTTTCTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02698.hp2 HG02922.hp2 others(1): Show HG01516.hp1 HG02698.hp2 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032	a0001c0001t0001g0120 a0001c0001t0003g0201 a0001c0001t0009g0144 others(1): Show a0001c0001t0001g0120 a0001c0001t0003g0201 a0001c0001t0009g0144 a0001c0001t0032g0143	4	396	0.0101	-15	c.52 others(26): Show c.5242_*5256delAAGAAGAAAAGAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3662		chr18	TogoVar
MBP_chr18_76973833_77137783	76975218	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0150 a0003c0004t0013g0150	1	396	0.0025	-15	c.51 others(26): Show c.5194_*5208delAGAAAAGAAAAGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3614		chr18	TogoVar
MBTD1_chr17_51172425_51265049	51177036	CAAGACTC others(8): Show CAAGACTCCATCTCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG02145.hp2 HG00558.hp2 HG00642.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0038 a0001c0002t0065 a0001c0002t0010 a0001c0002t0038 a0001c0002t0065	a0001c0002t0010g0012 a0001c0002t0038g0017 a0001c0002t0065g0016 a0001c0002t0010g0012 a0001c0002t0038g0017 a0001c0002t0065g0016	3	340	0.0088	-15	c.35 others(26): Show c.3525_*3539delTTGAGATGGAGTCTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		388		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179483	TTTATATA others(8): Show TTTATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02922.hp1 HG02970.hp1 HG01346.hp1 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0059 a0001c0001t0029g0066 a0001c0001t0029g0071 a0001c0001t0029g0059 a0001c0001t0029g0066 a0001c0001t0029g0071	3	340	0.0088	-15	c.10 others(26): Show c.1078_*1092delTATATATATATATAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1078		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51210757	AAACAACA others(8): Show AAACAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01943.hp2 HG02109.hp2 others(4): Show HG00597.hp2 HG01943.hp2 HG02109.hp2 HG02257.hp2 NA18950.hp2 NA18982.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0064 a0001c0001t0012 a0001c0001t0064	a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0045 others(4): Show a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0264 a0001c0001t0064g0337 a0001c0001t0064g0338	7	340	0.0206	-15	c.487 others(32): Show c.487-3767_487-3753delGTTGTTGTTGTTGTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	6/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51212364	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0304 a0001c0001t0054g0304	1	340	0.0029	-15	c.486 others(32): Show c.486+4955_486+4969delCTTTTCTTTTCTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	6/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84057847	GTGATGGA others(8): Show GTGATGGATTATTTGA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	424	0.0024	-15	c.283 others(34): Show c.2831+1440_2831+1454delTCAAATAATCCATCA	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	21/22			chr16	TogoVar
MC2R_chr18_13877044_13920536	13901202	GCAAATAC others(8): Show GCAAATACAACATACC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0096 a0001c0001t0014g0096	1	416	0.0024	-15	c.-12 others(36): Show c.-129+14271_-129+14285delGGTATGTTGTATTTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1			chr18	TogoVar
MC4R_chr18_60366062_60377775	60370728	TGTGTCTG others(8): Show TGTGTCTGAGAAGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-15	c.60 others(24): Show c.608_*622delGTACTTCTCAGACAC	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		333		chr18	TogoVar
MCAT_chr22_43127209_43148398	43130417	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18987.hp2 HG02615.hp1 NA18987.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0037 a0003c0003t0002g0011 a0002c0002t0001g0037 a0003c0003t0002g0011	2	418	0.0048	-15	c.26 others(26): Show c.2611_*2625delAAAAAAAAAAAAAAA	MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding		1791		chr22	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02293.hp1 HG02965.hp2 others(2): Show HG01081.hp1 HG02293.hp1 HG02965.hp2 NA19000.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0002c0002t0001 a0003c0007t0001 a0001c0001t0001 a0002c0002t0001 a0003c0007t0001	a0001c0001t0001g0025 a0001c0001t0001g0075 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0075 a0001c0001t0001g0180 a0002c0002t0001g0248 a0003c0007t0001g0034	5	344	0.0145	-15	c.-33 others(26): Show c.-3333_-3319delAAAAAAAAAAAAAAA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding		3263		chr3	TogoVar
MCCD1_chr6_31523962_31535232	31525296	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00733.hp2 others(19): Show HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01167.hp1 HG01257.hp1 HG01515.hp2 HG02004.hp1 HG02056.hp1 HG02129.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02976.hp2 HG03490.hp1 HG06807.hp2 NA18955.hp2 NA19079.hp2 NA19080.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0003 a0001c0001t0001g0001 a0002c0002t0001g0003	22	445	0.0494	-15	c.-37 others(26): Show c.-3718_-3704delTTTTTTTTTTTTTTT	MCCD1	ENSG00000204511.3	transcript	ENST00000376191.3	protein_coding		3665		chr6	TogoVar
MCCD1_chr6_31523962_31535232	31526595	AGTGTACA others(8): Show AGTGTACAGTAGCATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	445	0.0023	-15	c.-24 others(26): Show c.-2419_-2405delGTGTACAGTAGCATT	MCCD1	ENSG00000204511.3	transcript	ENST00000376191.3	protein_coding		2366		chr6	TogoVar
MCC_chr5_113017106_113493453	113036012	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp2 HG02280.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0021 a0003c0014 a0001c0021 a0003c0014	a0001c0021t0026 a0003c0014t0010 a0001c0021t0026 a0003c0014t0010	a0001c0021t0026g0037 a0003c0014t0010g0010 a0001c0021t0026g0037 a0003c0014t0010g0010	2	160	0.0125	-15	c.275 others(34): Show c.2757-6971_2757-6957delAAAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	17/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113100464	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0049 a0009c0049	a0009c0049t0001 a0009c0049t0001	a0009c0049t0001g0080 a0009c0049t0001g0080	1	160	0.0063	-15	c.139 others(34): Show c.1398+1260_1398+1274delAAAAAAAAAAAAAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	8/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113142852	GGATGCTC others(8): Show GGATGCTCGTCTCTAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(41): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02683.hp2 HG03654.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18955.hp2 NA18957.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18998.hp2 NA19001.hp2 NA19010.hp2 NA19065.hp1 NA19082.hp1 NA19083.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0011	a0001c0003 a0001c0004 a0001c0022 others(13): Show a0001c0003 a0001c0004 a0001c0022 a0001c0026 a0001c0042 a0002c0001 a0002c0002 a0002c0013 a0002c0029 a0003c0005 a0003c0020 a0003c0034 a0004c0054 a0006c0059 a0009c0049 a0011c0048	a0001c0003t0001 a0001c0003t0012 a0001c0003t0019 others(21): Show a0001c0003t0001 a0001c0003t0012 a0001c0003t0019 a0001c0004t0004 a0001c0022t0001 a0001c0026t0002 a0001c0026t0003 a0001c0042t0001 a0002c0001t0002 a0002c0002t0001 a0002c0002t0012 a0002c0013t0003 a0002c0013t0015 a0002c0013t0016 a0002c0029t0001 a0003c0005t0001 a0003c0005t0019 a0003c0005t0030 a0003c0020t0003 a0003c0034t0002 a0004c0054t0001 a0006c0059t0001 a0009c0049t0001 a0011c0048t0001	a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(41): Show a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0012g0097 a0001c0003t0019g0077 a0001c0004t0004g0086 a0001c0022t0001g0032 a0001c0022t0001g0064 a0001c0026t0002g0074 a0001c0026t0003g0082 a0001c0042t0001g0038 a0002c0001t0002g0119 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0144 a0002c0001t0002g0155 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0012g0122 a0002c0013t0003g0141 a0002c0013t0015g0130 a0002c0013t0015g0139 a0002c0013t0016g0151 a0002c0029t0001g0132 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0019g0027 a0003c0005t0030g0024 a0003c0020t0003g0022 a0003c0034t0002g0012 a0004c0054t0001g0115 a0006c0059t0001g0160 a0009c0049t0001g0080 a0011c0048t0001g0094	44	160	0.2750	-15	c.884 others(30): Show c.884+351_884+365delTTAGAGACGAGCATC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113185247	AGGAGAGT others(8): Show AGGAGAGTTGTAAATG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0113 a0004c0019t0003g0113	1	160	0.0063	-15	c.628 others(34): Show c.628-33840_628-33826delCATTTACAACTCTCC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113269297	TCTTTTTC others(8): Show TCTTTTTCAATGATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01070.hp1 others(31): Show HG00323.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01981.hp2 HG02055.hp1 HG02293.hp2 HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18955.hp2 NA18970.hp2 NA19002.hp1 NA19065.hp2 NA19074.hp1 NA19083.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0010 a0011	a0001c0003 a0001c0004 a0001c0007 others(14): Show a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0012 a0001c0017 a0001c0021 a0001c0023 a0001c0026 a0001c0027 a0001c0028 a0001c0051 a0001c0052 a0003c0037 a0009c0049 a0010c0046 a0011c0048	a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 others(24): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0007t0006 a0001c0007t0022 a0001c0009t0008 a0001c0009t0025 a0001c0012t0005 a0001c0012t0013 a0001c0017t0006 a0001c0021t0008 a0001c0023t0010 a0001c0023t0040 a0001c0026t0002 a0001c0026t0003 a0001c0027t0001 a0001c0028t0024 a0001c0028t0043 a0001c0051t0009 a0001c0052t0004 a0003c0037t0032 a0009c0049t0001 a0010c0046t0039 a0011c0048t0001	a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0009g0075 others(31): Show a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0009g0075 a0001c0003t0012g0097 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0098 a0001c0004t0003g0092 a0001c0004t0003g0093 a0001c0004t0004g0086 a0001c0007t0006g0078 a0001c0007t0022g0108 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0009t0025g0096 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0017t0006g0055 a0001c0021t0008g0058 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0026t0002g0074 a0001c0026t0003g0082 a0001c0027t0001g0089 a0001c0028t0024g0087 a0001c0028t0043g0079 a0001c0051t0009g0109 a0001c0052t0004g0107 a0003c0037t0032g0025 a0009c0049t0001g0080 a0010c0046t0039g0060 a0011c0048t0001g0094	34	160	0.2125	-15	c.627 others(34): Show c.627+71207_627+71221delGTATCATTGAAAAAG	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02897.hp1 HG01891.hp2 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0014 a0003c0015 a0003c0014 a0003c0015	a0003c0014t0018 a0003c0015t0011 a0003c0014t0018 a0003c0015t0011	a0003c0014t0018g0028 a0003c0015t0011g0030 a0003c0015t0011g0031 a0003c0014t0018g0028 a0003c0015t0011g0030 a0003c0015t0011g0031	3	160	0.0188	-15	c.627 others(34): Show c.627+41212_627+41226delTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113331614	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00621.hp2 others(87): Show HG00323.hp1 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp2 NA18957.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0011	a0001c0003 a0001c0004 a0001c0007 others(40): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0041 a0001c0045 a0001c0050 a0001c0051 a0001c0052 a0002c0001 a0002c0013 a0003c0005 a0003c0006 a0003c0014 a0003c0015 a0003c0020 a0003c0031 a0003c0034 a0003c0035 a0003c0036 a0003c0037 a0003c0038 a0003c0039 a0003c0040 a0005c0032 a0005c0033 a0006c0059 a0009c0049 a0010c0046 a0011c0048	a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 others(66): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0012 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0035 a0001c0007t0006 a0001c0007t0020 a0001c0007t0022 a0001c0007t0038 a0001c0008t0004 a0001c0008t0031 a0001c0009t0008 a0001c0009t0025 a0001c0010t0005 a0001c0010t0028 a0001c0011t0004 a0001c0012t0005 a0001c0012t0013 a0001c0017t0006 a0001c0018t0007 a0001c0021t0008 a0001c0021t0026 a0001c0022t0001 a0001c0023t0010 a0001c0023t0040 a0001c0025t0041 a0001c0025t0042 a0001c0026t0002 a0001c0026t0003 a0001c0027t0001 a0001c0028t0024 a0001c0028t0043 a0001c0041t0045 a0001c0045t0027 a0001c0050t0005 a0001c0051t0009 a0001c0052t0004 a0002c0001t0004 a0002c0013t0003 a0003c0005t0001 a0003c0005t0012 a0003c0005t0019 a0003c0005t0030 a0003c0006t0001 a0003c0006t0002 a0003c0006t0017 a0003c0014t0005 a0003c0014t0010 a0003c0014t0018 a0003c0015t0011 a0003c0015t0036 a0003c0020t0003 a0003c0020t0020 a0003c0031t0021 a0003c0034t0002 a0003c0035t0001 a0003c0036t0007 a0003c0037t0032 a0003c0038t0005 a0003c0039t0004 a0003c0040t0001 a0005c0032t0046 a0005c0033t0016 a0006c0059t0001 a0009c0049t0001 a0010c0046t0039 a0011c0048t0001	a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(87): Show a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0009g0075 a0001c0003t0012g0097 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0098 a0001c0004t0003g0092 a0001c0004t0003g0093 a0001c0004t0004g0086 a0001c0004t0035g0084 a0001c0007t0006g0078 a0001c0007t0006g0102 a0001c0007t0020g0103 a0001c0007t0022g0108 a0001c0007t0038g0076 a0001c0008t0004g0066 a0001c0008t0031g0034 a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0009t0025g0096 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035 a0001c0011t0004g0054 a0001c0012t0005g0081 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0017t0006g0055 a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0021t0008g0058 a0001c0021t0026g0037 a0001c0022t0001g0064 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0025t0041g0063 a0001c0025t0042g0062 a0001c0026t0002g0074 a0001c0026t0003g0082 a0001c0027t0001g0071 a0001c0027t0001g0089 a0001c0028t0024g0087 a0001c0028t0043g0079 a0001c0041t0045g0067 a0001c0045t0027g0061 a0001c0050t0005g0106 a0001c0051t0009g0109 a0001c0052t0004g0107 a0002c0001t0004g0157 a0002c0001t0004g0158 a0002c0013t0003g0141 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0012g0009 a0003c0005t0019g0027 a0003c0005t0030g0024 a0003c0006t0001g0011 a0003c0006t0002g0013 a0003c0006t0002g0015 a0003c0006t0002g0016 a0003c0006t0002g0017 a0003c0006t0017g0023 a0003c0014t0005g0026 a0003c0014t0010g0010 a0003c0014t0018g0028 a0003c0015t0011g0030 a0003c0015t0011g0031 a0003c0015t0036g0018 a0003c0020t0003g0022 a0003c0020t0020g0004 a0003c0031t0021g0003 a0003c0034t0002g0012 a0003c0035t0001g0001 a0003c0036t0007g0007 a0003c0037t0032g0025 a0003c0038t0005g0014 a0003c0039t0004g0029 a0003c0040t0001g0008 a0005c0032t0046g0006 a0005c0033t0016g0005 a0006c0059t0001g0160 a0009c0049t0001g0080 a0010c0046t0039g0060 a0011c0048t0001g0094	90	160	0.5625	-15	c.627 others(32): Show c.627+8890_627+8904delACAAAACAAAACAAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71104848	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(73): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG01109.hp2 HG01192.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	76	418	0.1818	-15	c.51 others(26): Show c.5107_*5121delTTTTTTTTTTTTTTT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		4838		chr2	TogoVar
MCF2L2_chr3_183173041_183433619	183360956	CAGAAAAG others(8): Show CAGAAAAGAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01123.hp1 HG01261.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02698.hp1 HG02976.hp2 HG03831.hp2 HG04115.hp2 NA18522.hp2 NA18950.hp1 NA18970.hp2 NA18983.hp1 NA19010.hp1 NA19088.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0012 a0025	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0008c0008 a0009c0010 a0012c0011 a0025c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0002c0002t0006 a0003c0003t0003 a0003c0003t0008 a0004c0004t0001 a0004c0004t0005 a0006c0006t0003 a0008c0008t0001 a0009c0010t0013 a0012c0011t0001 a0025c0031t0003	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0050 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0066 a0001c0001t0024g0167 a0002c0002t0006g0117 a0003c0003t0003g0012 a0003c0003t0003g0083 a0003c0003t0003g0105 a0003c0003t0008g0024 a0004c0004t0001g0060 a0004c0004t0005g0168 a0006c0006t0003g0118 a0008c0008t0001g0042 a0008c0008t0001g0162 a0009c0010t0013g0070 a0009c0010t0013g0116 a0012c0011t0001g0028 a0012c0011t0001g0088 a0025c0031t0003g0074	24	176	0.1364	-15	c.275 others(34): Show c.275+18326_275+18340delTTTCTTTTCTTTTCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183421652	GCAGTTTC others(8): Show GCAGTTTCTGATGCCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0004 a0026c0030t0004	a0026c0030t0004g0165 a0026c0030t0004g0165	1	176	0.0057	-15	c.76+ others(30): Show c.76+6235_76+6249delAGGCATCAGAAACTG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	1/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113055385	CACACACA others(8): Show CACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0104 a0001c0001t0022g0104	1	116	0.0086	-15	c.370 others(32): Show c.370-5207_370-5193delACACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar
MCF2L_chr13_112964214_113104742	113058042	AGGTGCTG others(8): Show AGGTGCTGAGTGTTTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	116	0.0086	-15	c.370 others(32): Show c.370-2536_370-2522delGGGTGCTGAGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCIDAS_chr5_55214564_55232315	55214929	CTTTTATT others(8): Show CTTTTATTTTATTTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	386	0.0026	-15	c.54 others(26): Show c.5422_*5436delTAAAATAAAATAAAA	MCIDAS	ENSG00000234602.9	transcript	ENST00000513312.3	protein_coding		4634		chr5	TogoVar
MCM2_chr3_127593411_127627436	127611682	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03579.hp2 HG01074.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0261 a0002c0005t0001g0264 a0002c0005t0001g0261 a0002c0005t0001g0264	2	426	0.0047	-15	c.142 others(34): Show c.1428+2679_1428+2693delTTTTTTTTTTTTTTT	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
MCM4_chr8_47955941_47983160	47968751	AGATAGCT others(8): Show AGATAGCTGTAACGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02965.hp1 others(1): Show HG02615.hp2 HG02723.hp1 HG02965.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0014 a0001c0006 a0005c0014	a0001c0006t0011 a0005c0014t0011 a0001c0006t0011 a0005c0014t0011	a0001c0006t0011g0024 a0001c0006t0011g0099 a0001c0006t0011g0116 others(1): Show a0001c0006t0011g0024 a0001c0006t0011g0099 a0001c0006t0011g0116 a0005c0014t0011g0024	4	314	0.0127	-15	c.117 others(34): Show c.1175-1044_1175-1030delTAGCTGTAACGGGGA	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCM6_chr2_135834626_135881443	135863723	TAACAAAA others(8): Show TAACAAAACAAAACAA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	394	0.0025	-15	c.107 others(32): Show c.1079-990_1079-976delTTGTTTTGTTTTGTT	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	7/16			chr2	TogoVar
MCM7_chr7_100087728_100106397	100105926	GCCTGAGT others(8): Show GCCTGAGTCGTGGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	422	0.0024	-15	c.-46 others(26): Show c.-4647_-4633delACACCACGACTCAGG	MCM7	ENSG00000166508.19	transcript	ENST00000303887.10	protein_coding		4530		chr7	TogoVar
MCM9_chr6_118808455_118940159	118824035	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01071.hp1 others(39): Show HG00408.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG03486.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19085.hp2	a0001 a0009 a0010 others(1): Show a0001 a0009 a0010 a0019	a0001c0002 a0001c0016 a0009c0012 others(2): Show a0001c0002 a0001c0016 a0009c0012 a0010c0013 a0019c0014	a0001c0002t0003 a0001c0002t0012 a0001c0002t0019 others(4): Show a0001c0002t0003 a0001c0002t0012 a0001c0002t0019 a0001c0016t0003 a0009c0012t0003 a0010c0013t0003 a0019c0014t0003	a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 others(37): Show a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0012g0012 a0001c0002t0019g0161 a0001c0016t0003g0108 a0009c0012t0003g0110 a0010c0013t0003g0136 a0019c0014t0003g0152	42	348	0.1207	-15	c.196 others(34): Show c.1961+2097_1961+2111delAAAAAAAAAAAAAAA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	13/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118916432	CATTATTA others(8): Show CATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(102): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03704.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0009 a0010 a0014 a0017 a0019 a0020	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0003c0004 a0004c0006 a0004c0009 a0009c0012 a0010c0013 a0014c0021 a0017c0019 a0019c0014 a0020c0025	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(17): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0005t0002 a0001c0005t0010 a0001c0016t0003 a0003c0004t0002 a0004c0006t0002 a0004c0009t0002 a0009c0012t0003 a0010c0013t0003 a0014c0021t0002 a0017c0019t0002 a0019c0014t0003 a0020c0025t0013	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(98): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0055 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0012g0012 a0001c0002t0017g0113 a0001c0002t0018g0124 a0001c0002t0019g0161 a0001c0005t0002g0002 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0018 a0001c0005t0010g0019 a0001c0016t0003g0108 a0003c0004t0002g0003 a0003c0004t0002g0020 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0023 a0003c0004t0002g0024 a0003c0004t0002g0025 a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0052 a0003c0004t0002g0053 a0004c0006t0002g0030 a0004c0006t0002g0031 a0004c0006t0002g0032 a0004c0006t0002g0033 a0004c0006t0002g0034 a0004c0006t0002g0040 a0004c0006t0002g0047 a0004c0009t0002g0028 a0004c0009t0002g0029 a0009c0012t0003g0110 a0010c0013t0003g0136 a0014c0021t0002g0041 a0017c0019t0002g0039 a0019c0014t0003g0152 a0020c0025t0013g0014	105	348	0.3017	-15	c.904 others(32): Show c.904+1114_904+1128delAATAATAATAATAAT	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	6/13			chr6	TogoVar
MCMBP_chr10_119824440_119877843	119836757	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(111): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19072.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0003c0008 a0003c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0024 a0001c0001t0026 a0001c0005t0001 a0002c0003t0007 a0003c0008t0001 a0003c0009t0001 a0005c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(97): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0352 a0001c0001t0001g0364 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0006g0004 a0001c0001t0006g0215 a0001c0001t0006g0221 a0001c0001t0006g0229 a0001c0001t0006g0238 a0001c0001t0008g0020 a0001c0001t0008g0265 a0001c0001t0008g0283 a0001c0001t0008g0303 a0001c0001t0008g0310 a0001c0001t0024g0235 a0001c0001t0026g0250 a0001c0005t0001g0263 a0001c0005t0001g0264 a0001c0005t0001g0327 a0001c0005t0001g0348 a0001c0005t0001g0353 a0002c0003t0007g0003 a0002c0003t0007g0092 a0002c0003t0007g0093 a0002c0003t0007g0094 a0003c0008t0001g0228 a0003c0009t0001g0225 a0005c0011t0001g0232	114	400	0.2850	-15	c.154 others(32): Show c.1542+124_1542+138delAAAAAAAAAAAAAAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	13/15			chr10	TogoVar
MCMBP_chr10_119824440_119877843	119852152	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	400	0.0025	-15	c.574 others(30): Show c.574+883_574+897delTTTTTTTTTTTTTTT	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	6/15			chr10	TogoVar
MCMBP_chr10_119824440_119877843	119863728	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	400	0.0025	-15	c.59- others(30): Show c.59-3859_59-3845delTTTTTTTTTTTTTTT	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	1/15			chr10	TogoVar
MCMDC2_chr8_66865771_66927048	66867551	AAATAATA others(8): Show AAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	202	0.0050	-15	c.-33 others(26): Show c.-3368_-3354delAATAATAATAATAAT	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding		3219		chr8	TogoVar
MCMDC2_chr8_66865771_66927048	66903329	ATTTATAC others(8): Show ATTTATACTTGACATT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG01952.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0080 a0001c0001t0001g0096	2	202	0.0099	-15	c.177 others(34): Show c.1770-1894_1770-1880delTATACTTGACATTTT	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCOLN3_chr1_85013082_85053500	85017958	ACCACAGC others(8): Show ACCACAGCCTCTCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(72): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02602.hp2 HG03017.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0002 a0003c0006t0002 a0001c0002t0002 a0003c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 others(28): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0081 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0164 a0003c0006t0002g0065	75	370	0.2027	-15	c.11 others(26): Show c.1150_*1164delGGTGAGAGGCTGTGG	MCOLN3	ENSG00000055732.13	transcript	ENST00000370589.7	protein_coding		123		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6416275	TATGTCAT others(8): Show TATGTCATGTCATGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(242): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0044	a0001c0001 a0001c0007 a0001c0021 others(79): Show a0001c0001 a0001c0007 a0001c0021 a0001c0022 a0001c0033 a0001c0064 a0001c0088 a0001c0090 a0002c0002 a0002c0008 a0002c0023 a0002c0030 a0002c0034 a0002c0036 a0002c0067 a0002c0089 a0002c0097 a0003c0003 a0003c0005 a0003c0016 a0003c0031 a0003c0065 a0003c0066 a0004c0006 a0004c0010 a0005c0004 a0006c0009 a0006c0012 a0006c0027 a0007c0013 a0007c0035 a0007c0085 a0008c0051 a0008c0052 a0008c0053 a0008c0054 a0009c0037 a0009c0069 a0009c0070 a0009c0075 a0009c0093 a0010c0014 a0011c0011 a0011c0096 a0012c0015 a0012c0026 a0014c0024 a0014c0025 a0015c0049 a0015c0050 a0016c0020 a0016c0063 a0017c0073 a0017c0074 a0017c0092 a0018c0029 a0018c0084 a0020c0028 a0021c0019 a0022c0076 a0022c0077 a0023c0078 a0023c0079 a0024c0094 a0024c0098 a0025c0038 a0026c0032 a0027c0081 a0027c0082 a0028c0018 a0031c0040 a0032c0095 a0033c0062 a0034c0080 a0035c0072 a0036c0071 a0037c0068 a0038c0091 a0039c0087 a0040c0086 a0041c0083 a0044c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(150): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0030 a0001c0001t0037 a0001c0001t0046 a0001c0001t0056 a0001c0007t0001 a0001c0007t0004 a0001c0007t0033 a0001c0007t0058 a0001c0021t0001 a0001c0022t0001 a0001c0022t0005 a0001c0033t0004 a0001c0064t0004 a0001c0088t0009 a0001c0090t0059 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0035 a0002c0002t0038 a0002c0002t0057 a0002c0008t0001 a0002c0008t0002 a0002c0008t0005 a0002c0008t0041 a0002c0023t0002 a0002c0023t0063 a0002c0030t0001 a0002c0030t0014 a0002c0034t0016 a0002c0034t0073 a0002c0036t0001 a0002c0036t0002 a0002c0067t0002 a0002c0089t0052 a0002c0097t0014 a0003c0003t0003 a0003c0003t0006 a0003c0003t0010 a0003c0003t0049 a0003c0005t0006 a0003c0005t0017 a0003c0005t0066 a0003c0005t0068 a0003c0005t0069 a0003c0016t0007 a0003c0016t0017 a0003c0016t0065 a0003c0031t0003 a0003c0031t0010 a0003c0065t0006 a0003c0066t0007 a0004c0006t0002 a0004c0006t0008 a0004c0006t0013 a0004c0006t0021 a0004c0006t0034 a0004c0006t0062 a0004c0010t0001 a0004c0010t0053 a0005c0004t0001 a0005c0004t0002 a0005c0004t0011 a0005c0004t0039 a0005c0004t0045 a0005c0004t0060 a0006c0009t0002 a0006c0009t0004 a0006c0009t0050 a0006c0012t0009 a0006c0012t0061 a0006c0027t0011 a0006c0027t0023 a0007c0013t0003 a0007c0013t0026 a0007c0013t0028 a0007c0035t0003 a0007c0085t0026 a0008c0051t0064 a0008c0052t0043 a0008c0053t0005 a0008c0054t0042 a0009c0037t0004 a0009c0037t0072 a0009c0069t0051 a0009c0070t0029 a0009c0075t0047 a0009c0093t0077 a0010c0014t0001 a0010c0014t0019 a0010c0014t0023 a0011c0011t0001 a0011c0011t0002 a0011c0096t0001 a0012c0015t0006 a0012c0015t0070 a0012c0026t0010 a0014c0024t0007 a0014c0024t0067 a0014c0025t0003 a0015c0049t0007 a0015c0050t0027 a0016c0020t0001 a0016c0020t0018 a0016c0063t0004 a0017c0073t0054 a0017c0074t0004 a0017c0092t0004 a0018c0029t0002 a0018c0029t0013 a0018c0084t0005 a0020c0028t0022 a0021c0019t0016 a0021c0019t0044 a0022c0076t0007 a0022c0077t0017 a0023c0078t0001 a0023c0079t0001 a0024c0094t0031 a0024c0098t0001 a0025c0038t0074 a0025c0038t0075 a0026c0032t0005 a0026c0032t0024 a0027c0081t0048 a0027c0082t0016 a0028c0018t0009 a0028c0018t0015 a0031c0040t0029 a0032c0095t0002 a0033c0062t0018 a0034c0080t0001 a0035c0072t0003 a0036c0071t0025 a0037c0068t0055 a0038c0091t0032 a0039c0087t0004 a0040c0086t0002 a0041c0083t0007 a0044c0039t0015	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0074 others(242): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0005g0008 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0011g0202 a0001c0001t0012g0010 a0001c0001t0012g0014 a0001c0001t0012g0146 a0001c0001t0012g0193 a0001c0001t0019g0163 a0001c0001t0024g0260 a0001c0001t0030g0123 a0001c0001t0037g0168 a0001c0001t0046g0179 a0001c0001t0056g0038 a0001c0007t0001g0124 a0001c0007t0001g0129 a0001c0007t0001g0132 a0001c0007t0001g0136 a0001c0007t0001g0138 a0001c0007t0001g0140 a0001c0007t0004g0135 a0001c0007t0033g0134 a0001c0007t0058g0127 a0001c0021t0001g0217 a0001c0021t0001g0218 a0001c0022t0001g0248 a0001c0022t0005g0105 a0001c0033t0004g0036 a0001c0033t0004g0209 a0001c0064t0004g0242 a0001c0088t0009g0161 a0001c0090t0059g0228 a0002c0002t0001g0067 a0002c0002t0001g0195 a0002c0002t0001g0198 a0002c0002t0002g0009 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0151 a0002c0002t0002g0167 a0002c0002t0002g0182 a0002c0002t0002g0211 a0002c0002t0005g0077 a0002c0002t0008g0011 a0002c0002t0008g0066 a0002c0002t0008g0071 a0002c0002t0011g0037 a0002c0002t0013g0192 a0002c0002t0014g0212 a0002c0002t0020g0017 a0002c0002t0020g0176 a0002c0002t0021g0201 a0002c0002t0035g0175 a0002c0002t0038g0173 a0002c0002t0057g0142 a0002c0008t0001g0169 a0002c0008t0001g0171 a0002c0008t0002g0073 a0002c0008t0005g0019 a0002c0008t0005g0023 a0002c0008t0005g0107 a0002c0008t0005g0150 a0002c0008t0005g0210 a0002c0008t0041g0206 a0002c0023t0002g0087 a0002c0023t0063g0088 a0002c0030t0001g0128 a0002c0030t0014g0131 a0002c0034t0016g0164 a0002c0034t0073g0160 a0002c0036t0001g0196 a0002c0036t0002g0188 a0002c0067t0002g0106 a0002c0089t0052g0162 a0002c0097t0014g0126 a0003c0003t0003g0006 a0003c0003t0003g0030 a0003c0003t0003g0065 a0003c0003t0003g0068 a0003c0003t0003g0075 a0003c0003t0003g0157 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0197 a0003c0003t0003g0203 a0003c0003t0006g0156 a0003c0003t0010g0013 a0003c0003t0010g0158 a0003c0003t0049g0149 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0152 a0003c0005t0006g0170 a0003c0005t0006g0180 a0003c0005t0006g0187 a0003c0005t0017g0184 a0003c0005t0066g0177 a0003c0005t0068g0145 a0003c0005t0069g0143 a0003c0016t0007g0130 a0003c0016t0017g0137 a0003c0016t0065g0125 a0003c0031t0003g0153 a0003c0031t0010g0255 a0003c0065t0006g0249 a0003c0066t0007g0243 a0004c0006t0002g0089 a0004c0006t0002g0092 a0004c0006t0002g0095 a0004c0006t0008g0083 a0004c0006t0008g0090 a0004c0006t0013g0110 a0004c0006t0021g0081 a0004c0006t0034g0084 a0004c0006t0062g0097 a0004c0010t0001g0078 a0004c0010t0001g0093 a0004c0010t0001g0096 a0004c0010t0053g0094 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0085 a0005c0004t0001g0091 a0005c0004t0001g0103 a0005c0004t0001g0117 a0005c0004t0001g0244 a0005c0004t0002g0082 a0005c0004t0011g0100 a0005c0004t0039g0245 a0005c0004t0045g0109 a0005c0004t0060g0098 a0006c0009t0002g0061 a0006c0009t0002g0063 a0006c0009t0004g0060 a0006c0009t0004g0226 a0006c0009t0050g0054 a0006c0012t0009g0055 a0006c0012t0009g0056 a0006c0012t0009g0057 a0006c0012t0061g0059 a0006c0027t0011g0225 a0006c0027t0023g0227 a0007c0013t0003g0194 a0007c0013t0026g0208 a0007c0013t0028g0147 a0007c0013t0028g0148 a0007c0035t0003g0022 a0007c0035t0003g0029 a0007c0085t0026g0133 a0008c0051t0064g0231 a0008c0052t0043g0240 a0008c0053t0005g0236 a0008c0054t0042g0233 a0009c0037t0004g0252 a0009c0037t0072g0253 a0009c0069t0051g0238 a0009c0070t0029g0031 a0009c0075t0047g0079 a0009c0093t0077g0254 a0010c0014t0001g0234 a0010c0014t0019g0232 a0010c0014t0023g0239 a0011c0011t0001g0048 a0011c0011t0001g0115 a0011c0011t0001g0247 a0011c0011t0002g0246 a0011c0096t0001g0139 a0012c0015t0006g0001 a0012c0015t0006g0003 a0012c0015t0070g0049 a0012c0026t0010g0050 a0012c0026t0010g0121 a0014c0024t0007g0080 a0014c0024t0067g0104 a0014c0025t0003g0086 a0014c0025t0003g0099 a0015c0049t0007g0241 a0015c0050t0027g0237 a0016c0020t0001g0258 a0016c0020t0018g0257 a0016c0063t0004g0259 a0017c0073t0054g0111 a0017c0074t0004g0112 a0017c0092t0004g0251 a0018c0029t0002g0045 a0018c0029t0013g0046 a0018c0084t0005g0028 a0020c0028t0022g0040 a0020c0028t0022g0041 a0021c0019t0016g0053 a0021c0019t0044g0052 a0022c0076t0007g0002 a0022c0077t0017g0004 a0023c0078t0001g0119 a0023c0079t0001g0120 a0024c0094t0031g0005 a0024c0098t0001g0042 a0025c0038t0074g0044 a0025c0038t0075g0043 a0026c0032t0005g0144 a0026c0032t0024g0213 a0027c0081t0048g0047 a0027c0082t0016g0058 a0028c0018t0009g0114 a0028c0018t0015g0113 a0031c0040t0029g0235 a0032c0095t0002g0027 a0033c0062t0018g0051 a0034c0080t0001g0118 a0035c0072t0003g0102 a0036c0071t0025g0230 a0037c0068t0055g0101 a0038c0091t0032g0122 a0039c0087t0004g0141 a0040c0086t0002g0204 a0041c0083t0007g0062 a0044c0039t0015g0064	245	262	0.9351	-15	c.233 others(32): Show c.233+1417_233+1431delCATGTCATGTCATGT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6419175	ACACACAC others(8): Show ACACACACACACACGC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0140 a0001c0007t0001g0140	1	262	0.0038	-15	c.233 others(32): Show c.233+4293_233+4307delCACACACACACACGC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13			chr8	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00738.hp2 others(13): Show HG00621.hp1 HG00639.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG02129.hp2 HG02132.hp1 HG02622.hp1 HG03669.hp2 HG04204.hp1 NA18942.hp2 NA18952.hp1 NA18966.hp1 NA18968.hp1 NA19002.hp2 NA19077.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0009 a0023	a0001c0001 a0001c0007 a0001c0022 others(7): Show a0001c0001 a0001c0007 a0001c0022 a0003c0003 a0003c0005 a0004c0006 a0005c0004 a0007c0035 a0009c0070 a0023c0078	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0022t0005 a0003c0003t0003 a0003c0005t0006 a0003c0005t0017 a0004c0006t0002 a0005c0004t0001 a0007c0035t0003 a0009c0070t0029 a0023c0078t0001	a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0191 others(13): Show a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0002g0199 a0001c0007t0001g0140 a0001c0022t0005g0105 a0003c0003t0003g0065 a0003c0005t0006g0180 a0003c0005t0006g0187 a0003c0005t0017g0184 a0004c0006t0002g0092 a0005c0004t0001g0085 a0007c0035t0003g0029 a0009c0070t0029g0031 a0023c0078t0001g0119	16	262	0.0611	-15	c.221 others(36): Show c.2215-44741_2215-44727delTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6623688	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp1 HG02922.hp2 HG03540.hp1	a0002 a0027 a0002 a0027	a0002c0034 a0027c0082 a0002c0034 a0027c0082	a0002c0034t0016 a0027c0082t0016 a0002c0034t0016 a0027c0082t0016	a0002c0034t0016g0164 a0027c0082t0016g0058 a0002c0034t0016g0164 a0027c0082t0016g0058	2	262	0.0076	-15	c.245 others(34): Show c.2452+2013_2452+2027delAAAAAAAAAAAAAAA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCRIP1_chr17_81817361_81838291	81820396	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	-15	c.28 others(26): Show c.2836_*2850delAAAAAAAAAAAAAAA	MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding		1964		chr17	TogoVar
MCRIP2_chr16_636828_653474	641083	TCCCCCCA others(8): Show TCCCCCCAGCACAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 NA20300.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	2	420	0.0048	-15	c.-90 others(24): Show c.-908_-894delCCCCCCAGCACAGGG	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		744		chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)