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.

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
MARCOL_chr5_148233525_148248580	148244054	ACTTAAAC others(33): Show ACTTAAACTCCTAAACATAGAATTTACAGATTTTCATGATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	418	0.0024	-40	c.80 others(49): Show c.801_*840delCTTAAACTCCTAAACATAGAATTTACAGATTTTCAT GATT	MARCOL	ENSG00000248109.3	transcript	ENST00000638089.2	protein_coding		475		chr5	TogoVar
MARCO_chr2_118937194_118999660	118986632	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03139.hp1 HG03516.hp2 others(1): Show HG01975.hp2 HG03139.hp1 HG03516.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0341 a0001c0003t0001g0221 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0341 a0001c0003t0001g0221 a0002c0002t0001g0128	4	394	0.0102	-40	c.106 others(59): Show c.1064-3933_1064-3894delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARS1_chr12_57483068_57521652	57493392	TATATAAT others(33): Show TATATAATATATGTTATATAATATATTATATGATATGTATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	288	0.0035	-40	c.770 others(57): Show c.770+2754_770+2793delATATATGTTATATAATATATTATATGAT ATGTATAATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57507927	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	288	0.0035	-40	c.136 others(59): Show c.1368+3645_1368+3684delTGGGGCGGCTGCCGGGCGGAGGGTCT CCTCACTTCTCAGA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAST4_chr5_66591393_67174593	66919937	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0068 a0001c0002t0019g0068	1	108	0.0093	-40	c.674 others(59): Show c.674+19959_674+19998delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01943.hp1 HG02922.hp1 others(2): Show HG01891.hp2 HG01943.hp1 HG02922.hp1 HG02970.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0281 a0001c0001t0004g0131 a0001c0001t0004g0132 others(2): Show a0001c0001t0002g0281 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0221	5	298	0.0168	-40	c.212 others(59): Show c.212-28981_212-28942delATATATATATATATATATATATATAT ATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L2_chr19_7044321_7056735	7053530	TTATATAT others(33): Show TTATATATATAATATAATTTATATGTTATATAATTATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01071.hp1 others(36): Show HG00323.hp2 HG00597.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp2 HG02280.hp1 HG02486.hp2 HG02897.hp2 HG02922.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03927.hp1 NA18940.hp1 NA18954.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18979.hp2 NA18983.hp2 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0007 a0002c0002 a0002c0003 others(4): Show a0001c0007 a0002c0002 a0002c0003 a0002c0014 a0003c0006 a0005c0015 a0006c0012	a0001c0007t0001 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0007t0001 a0002c0002t0001 a0002c0003t0001 a0002c0014t0001 a0003c0006t0001 a0005c0015t0001 a0006c0012t0001	a0001c0007t0001g0016 a0002c0002t0001g0002 a0002c0002t0001g0003 others(10): Show a0001c0007t0001g0016 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0003t0001g0003 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0014t0001g0009 a0003c0006t0001g0009 a0005c0015t0001g0003 a0006c0012t0001g0003	39	258	0.1512	-40	c.19 others(51): Show c.1909_*1948delTATATATATAATATAATTTATATGTTATATAATT ATATTA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1796		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053530	TTATATAT others(33): Show TTATATATATAATATAATTTATATGTTATATAATTATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp2 others(46): Show HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00741.hp1 HG01070.hp1 HG01169.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01517.hp1 HG01928.hp1 HG01981.hp1 HG02004.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03654.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18976.hp1 NA18979.hp2 NA18983.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19076.hp2 NA20805.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0004 a0003c0003 others(2): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006	a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 others(2): Show a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0010 others(10): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0034 a0002c0002t0001g0044 a0002c0004t0001g0005 a0002c0004t0001g0016 a0002c0004t0001g0021 a0002c0004t0001g0043 a0003c0003t0001g0038 a0004c0005t0001g0007 a0004c0005t0001g0036 a0005c0006t0001g0025	49	288	0.1701	-40	c.27 others(51): Show c.2752_*2791delTAATATAATTATATAACATATAAATTATATTATA TATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2676		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053568	TTATATAT others(33): Show TTATATATATAATATAATTTATATGTTATATAATTATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	-40	c.27 others(51): Show c.2714_*2753delTAATATAATTATATAACATATAAATTATATTATA TATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2638		chr19	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(33): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG02165.hp2 others(8): Show HG00099.hp1 HG00639.hp1 HG02165.hp2 HG02280.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	390	0.0282	-40	c.30 others(51): Show c.3039_*3078delTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2740		chr7	TogoVar
MBNL2_chr13_97217333_97399120	97233126	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	254	0.0039	-40	c.-60 others(61): Show c.-605+10606_-605+10645delATATATATATATATATATATATAT ATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT7_chr19_54168415_54194580	54168793	CTTTCTTT others(33): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	373	0.0027	-40	c.52 others(51): Show c.5211_*5250delAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4621		chr19	TogoVar
MBP_chr18_76973833_77137783	77028832	ACGCTCCT others(33): Show ACGCTCCTCACTTCCCAGATGTGATGGCGGCCGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG02965.hp2 others(5): Show HG01891.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0003c0004t0013	a0001c0001t0001g0112 a0001c0001t0002g0311 a0001c0001t0009g0017 others(5): Show a0001c0001t0001g0112 a0001c0001t0002g0311 a0001c0001t0009g0017 a0001c0001t0009g0147 a0001c0001t0017g0018 a0001c0001t0018g0226 a0001c0002t0001g0212 a0003c0004t0013g0115	8	396	0.0202	-40	c.140 others(59): Show c.140-11604_140-11565delCCTCTGCCCGGCCGCCATCACATCTG GGAAGTGAGGAGCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77028874	GCTCCTCA others(33): Show GCTCCTCACTTCCCAGATGGGATGGCGGCCGGGCAGAGACT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0391 a0001c0001t0054g0391	1	396	0.0025	-40	c.140 others(59): Show c.140-11646_140-11607delAGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGTGAGGAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77028885	CCCAGATG others(33): Show CCCAGATGGGATGGCGGCCGGGCAGAGACTCTCCTCACTTT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19005.hp2 NA18992.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0010 a0001c0001t0026	a0001c0001t0010g0021 a0001c0001t0026g0376 a0001c0001t0010g0021 a0001c0001t0026g0376	2	396	0.0051	-40	c.140 others(59): Show c.140-11657_140-11618delAAAGTGAGGAGAGTCTCTGCCCGGCC GCCATCCCATCTGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51179482	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0326 a0001c0001t0068g0326	1	340	0.0029	-40	c.10 others(51): Show c.1054_*1093delTATATATATATATATATATATATATATATATATA TATAAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1054		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02976.hp2 others(3): Show HG02818.hp2 HG02886.hp2 HG02976.hp2 NA19070.hp2 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0025 a0001c0001t0041 others(2): Show a0001c0001t0013 a0001c0001t0025 a0001c0001t0041 a0001c0001t0139 a0001c0001t0140	a0001c0001t0013g0089 a0001c0001t0013g0090 a0001c0001t0025g0097 others(3): Show a0001c0001t0013g0089 a0001c0001t0013g0090 a0001c0001t0025g0097 a0001c0001t0041g0157 a0001c0001t0139g0184 a0001c0001t0140g0183	6	340	0.0177	-40	c.122 others(59): Show c.1225-1720_1225-1681delATATATATATATATATATATATATAT ATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MC1R_chr16_89913862_89925972	89914681	TTGTGTGT others(33): Show TTGTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	396	0.0025	-40	c.-45 others(51): Show c.-4577_-4538delTGTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACA TTTGTG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4180		chr16	TogoVar
MC2R_chr18_13877044_13920536	13880086	AGGCCCCT others(33): Show AGGCCCCTCTGCAGTTCCTAGAGGTCTCTGCAGTCCCTAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(221): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0002c0002t0008 a0002c0002t0043 a0002c0002t0082 a0004c0004t0060	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0017 others(173): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0267 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0006g0010 a0001c0001t0006g0020 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0276 a0001c0001t0006g0280 a0001c0001t0006g0304 a0001c0001t0008g0021 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0011g0310 a0001c0001t0011g0311 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0011g0317 a0001c0001t0011g0318 a0001c0001t0012g0052 a0001c0001t0012g0273 a0001c0001t0012g0281 a0001c0001t0012g0286 a0001c0001t0012g0299 a0001c0001t0012g0303 a0001c0001t0013g0013 a0001c0001t0013g0077 a0001c0001t0013g0079 a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0018g0319 a0001c0001t0018g0320 a0001c0001t0024g0024 a0001c0001t0024g0069 a0001c0001t0025g0054 a0001c0001t0025g0279 a0001c0001t0026g0249 a0001c0001t0026g0268 a0001c0001t0026g0270 a0001c0001t0027g0282 a0001c0001t0027g0291 a0001c0001t0027g0294 a0001c0001t0028g0232 a0001c0001t0028g0233 a0001c0001t0028g0234 a0001c0001t0029g0012 a0001c0001t0030g0085 a0001c0001t0030g0086 a0001c0001t0030g0088 a0001c0001t0032g0014 a0001c0001t0033g0041 a0001c0001t0034g0072 a0001c0001t0034g0075 a0001c0001t0035g0049 a0001c0001t0036g0287 a0001c0001t0036g0305 a0001c0001t0038g0260 a0001c0001t0038g0261 a0001c0001t0039g0255 a0001c0001t0039g0259 a0001c0001t0040g0295 a0001c0001t0040g0297 a0001c0001t0041g0283 a0001c0001t0041g0292 a0001c0001t0042g0053 a0001c0001t0043g0062 a0001c0001t0044g0087 a0001c0001t0044g0090 a0001c0001t0045g0247 a0001c0001t0045g0250 a0001c0001t0046g0241 a0001c0001t0046g0245 a0001c0001t0047g0043 a0001c0001t0048g0242 a0001c0001t0048g0243 a0001c0001t0049g0022 a0001c0001t0050g0023 a0001c0001t0061g0272 a0001c0001t0062g0074 a0001c0001t0063g0302 a0001c0001t0064g0253 a0001c0001t0065g0289 a0001c0001t0066g0076 a0001c0001t0067g0070 a0001c0001t0068g0073 a0001c0001t0069g0293 a0001c0001t0070g0071 a0001c0001t0071g0312 a0001c0001t0072g0296 a0001c0001t0073g0300 a0001c0001t0074g0277 a0001c0001t0075g0193 a0001c0001t0076g0244 a0001c0001t0077g0235 a0001c0001t0078g0061 a0001c0001t0079g0068 a0001c0001t0080g0067 a0001c0001t0081g0089 a0001c0001t0083g0251 a0001c0001t0084g0246 a0001c0001t0085g0240 a0001c0001t0086g0066 a0001c0001t0087g0060 a0001c0001t0088g0078 a0001c0001t0089g0210 a0001c0001t0090g0205 a0001c0001t0091g0084 a0001c0001t0092g0083 a0001c0001t0093g0082 a0002c0002t0008g0011 a0002c0002t0008g0056 a0002c0002t0043g0057 a0002c0002t0082g0058 a0004c0004t0060g0309	224	416	0.5385	-40	c.44 others(51): Show c.4499_*4538delCCTAGGGACTGCAGAGACCTCTAGGAACTGCAGA GGGGCC	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding		1957		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71618512	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	350	0.0029	-40	c.625 others(57): Show c.625-8124_625-8085delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02257.hp2 HG02922.hp1 others(3): Show HG00408.hp1 HG02257.hp2 HG02922.hp1 HG03516.hp1 NA18612.hp2 NA18942.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0011 others(2): Show a0001c0007 a0001c0009 a0001c0011 a0001c0017 a0001c0042	a0001c0007t0034 a0001c0009t0008 a0001c0009t0011 others(3): Show a0001c0007t0034 a0001c0009t0008 a0001c0009t0011 a0001c0011t0001 a0001c0017t0002 a0001c0042t0001	a0001c0007t0034g0073 a0001c0009t0008g0072 a0001c0009t0011g0070 others(3): Show a0001c0007t0034g0073 a0001c0009t0008g0072 a0001c0009t0011g0070 a0001c0011t0001g0039 a0001c0017t0002g0040 a0001c0042t0001g0038	6	160	0.0375	-40	c.627 others(59): Show c.627+41187_627+41226delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183262122	ATCGTTTT others(33): Show ATCGTTTTATGATACTTTATTATATACACTAAGGGTTAGTC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01884.hp2 HG02451.hp2 HG01071.hp1 HG01884.hp2 HG02451.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0024 a0009c0010t0013 a0001c0001t0024 a0009c0010t0013	a0001c0001t0024g0167 a0009c0010t0013g0070 a0009c0010t0013g0116 a0001c0001t0024g0167 a0009c0010t0013g0070 a0009c0010t0013g0116	3	176	0.0171	-40	c.186 others(61): Show c.1862+14710_1862+14749delGACTAACCCTTAGTGTATATAATA AAGTATCATAAAACGA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183262124	CGTTTTAT others(33): Show CGTTTTATGATACTTTATTATATACACTAAGGGTTAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00735.hp2 others(48): Show HG00438.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18952.hp2 NA18984.hp1 NA18985.hp2 NA19007.hp1 NA19058.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0015 a0016 a0018 a0020 a0022 a0024 a0025 a0026 a0030	a0001c0001 a0001c0023 a0002c0002 others(18): Show a0001c0001 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0007c0005 a0008c0008 a0010c0009 a0011c0014 a0012c0011 a0015c0018 a0016c0015 a0018c0019 a0020c0034 a0022c0024 a0024c0021 a0025c0031 a0026c0030 a0030c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0023t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0019 a0003c0003t0003 a0003c0003t0008 a0003c0003t0022 a0004c0004t0012 a0005c0007t0001 a0006c0006t0003 a0006c0006t0014 a0007c0005t0001 a0007c0005t0009 a0008c0008t0009 a0010c0009t0001 a0010c0009t0002 a0011c0014t0002 a0012c0011t0001 a0012c0011t0002 a0015c0018t0003 a0016c0015t0004 a0018c0019t0001 a0020c0034t0001 a0022c0024t0003 a0024c0021t0003 a0025c0031t0003 a0026c0030t0004 a0030c0028t0018	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0037 others(48): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0123 a0001c0001t0002g0119 a0001c0001t0002g0146 a0001c0001t0005g0172 a0001c0001t0012g0068 a0001c0023t0010g0008 a0002c0002t0001g0057 a0002c0002t0002g0015 a0002c0002t0002g0091 a0002c0002t0006g0051 a0002c0002t0006g0117 a0002c0002t0019g0158 a0003c0003t0003g0059 a0003c0003t0003g0061 a0003c0003t0003g0109 a0003c0003t0008g0046 a0003c0003t0022g0157 a0004c0004t0012g0019 a0005c0007t0001g0036 a0006c0006t0003g0118 a0006c0006t0014g0156 a0007c0005t0001g0033 a0007c0005t0001g0048 a0007c0005t0001g0053 a0007c0005t0001g0073 a0007c0005t0001g0160 a0007c0005t0009g0176 a0008c0008t0009g0175 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0011c0014t0002g0148 a0012c0011t0001g0028 a0012c0011t0001g0088 a0012c0011t0002g0031 a0015c0018t0003g0108 a0016c0015t0004g0125 a0016c0015t0004g0151 a0018c0019t0001g0032 a0020c0034t0001g0104 a0022c0024t0003g0058 a0024c0021t0003g0027 a0025c0031t0003g0074 a0026c0030t0004g0165 a0030c0028t0018g0014	51	176	0.2898	-40	c.186 others(61): Show c.1862+14708_1862+14747delAAGACTAACCCTTAGTGTATATAA TAAAGTATCATAAAAC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183360956	CAGAAAAG others(33): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02109.hp1 others(10): Show HG01081.hp1 HG01081.hp2 HG02109.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0013 a0014 a0016 a0019 a0030	a0001c0023 a0002c0002 a0003c0003 others(7): Show a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0013c0013 a0014c0012 a0016c0015 a0019c0020 a0030c0028	a0001c0023t0010 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0023t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0003c0003t0022 a0004c0004t0002 a0006c0006t0014 a0013c0013t0002 a0014c0012t0001 a0016c0015t0004 a0019c0020t0005 a0030c0028t0018	a0001c0023t0010g0008 a0002c0002t0001g0020 a0002c0002t0002g0017 others(10): Show a0001c0023t0010g0008 a0002c0002t0001g0020 a0002c0002t0002g0017 a0002c0002t0002g0144 a0002c0002t0006g0051 a0003c0003t0022g0157 a0004c0004t0002g0013 a0006c0006t0014g0156 a0013c0013t0002g0121 a0014c0012t0001g0164 a0016c0015t0004g0151 a0019c0020t0005g0170 a0030c0028t0018g0014	13	176	0.0739	-40	c.275 others(59): Show c.275+18301_275+18340delTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113061716	CTCCCCCT others(33): Show CTCCCCCTTGCCCTCCCCTCCCTCTTCCCTTTCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	116	0.0086	-40	c.489 others(57): Show c.489+1009_489+1048delCCTTGCCCTCCCCTCCCTCTTCCCTTTC CCCTCCCTTCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(33): Show GTATGTATGTATGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	432	0.0023	-40	c.249 others(57): Show c.2498+630_2498+669delGTATGTATGTATATATATATATATATAT ATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204994	GTATGTAT others(33): Show GTATGTATGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0147 a0001c0012t0001g0147	1	432	0.0023	-40	c.249 others(57): Show c.2498+634_2498+673delGTATGTATATATATATATATATATATAT ATATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM4_chr8_47955941_47983160	47972074	TACAAAAA others(33): Show TACAAAAAATTAGCCCGGCGTGGCGGCGCATGCCTGTAATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	314	0.0032	-40	c.192 others(57): Show c.1928+607_1928+646delACAAAAAATTAGCCCGGCGTGGCGGCGC ATGCCTGTAATC	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding	13/16			chr8	TogoVar
MCOLN2_chr1_84920583_85002113	84987537	TATACATA others(33): Show TATACATAGATGTATACATCTATGTATACATAGATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG03139.hp1 others(1): Show HG02055.hp2 HG02922.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070	4	350	0.0114	-40	c.77+ others(55): Show c.77+9219_77+9258delGTATACATCTATGTATACATAGATGTATAC ATCTATGTAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP1_chr5_94698690_95290094	95207938	AGAGAGAG others(33): Show AGAGAGAGAGGGAGAGAGAGGGAGAGAGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0098 a0001c0010t0002g0098	1	98	0.0102	-40	c.720 others(59): Show c.720+75878_720+75917delCCTCTCTCTCCCTCTCTCTCCCTCTC TCTCCCTCTCTCTC	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94244108	GTATATGT others(33): Show GTATATGTTTATATACACATGTATACACATGCATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp2 HG03486.hp2 HG00735.hp2 HG03209.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0005c0014t0045 a0001c0001t0001 a0001c0002t0001 a0005c0014t0045	a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176 a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176	3	276	0.0109	-40	c.-66 others(59): Show c.-66+12448_-66+12487delATGTTTATATACACATGTATACACAT GCATATGTGTATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244406	TCGTATAT others(33): Show TCGTATATGTATACACATACATATGCACCTATGTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	276	0.0036	-40	c.-66 others(59): Show c.-66+12814_-66+12853delGTTTATATACGTATATGTATACACAT ACATATGCACCTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244486	ACGTATAT others(33): Show ACGTATATGTATACACATACATATGCACCTATATTTATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0272 a0001c0002t0051g0272	1	276	0.0036	-40	c.-66 others(59): Show c.-66+12854_-66+12893delATTTATATTCGTATATGTATACACAT ACATATGCACCTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244605	TACGTATA others(33): Show TACGTATATGTATACACATACATATGCACCTATGTTTATAA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19068.hp2 NA19080.hp2 NA18964.hp1 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0015t0003 a0001c0002t0001 a0001c0015t0001 a0001c0015t0003	a0001c0002t0001g0193 a0001c0015t0001g0165 a0001c0015t0003g0155 a0001c0002t0001g0193 a0001c0015t0001g0165 a0001c0015t0003g0155	3	276	0.0109	-40	c.-66 others(59): Show c.-66+12966_-66+13005delGCACCTATGTTTATAAACGTATATGT ATACACATACATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244645	AACGTATA others(33): Show AACGTATATGTATACACATACATATCCACCTATGTTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19081.hp2 HG00621.hp1 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0007 a0002c0004t0008 a0002c0003t0007 a0002c0004t0008	a0002c0003t0007g0212 a0002c0004t0008g0113 a0002c0003t0007g0212 a0002c0004t0008g0113	2	276	0.0073	-40	c.-66 others(59): Show c.-66+13006_-66+13045delCCACCTATGTTTATATACGTATATGT ATACACATACATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244686	ACGTATAT others(33): Show ACGTATATGTATACACATACATATGCACCTATGTTTATATT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	276	0.0036	-40	c.-66 others(59): Show c.-66+13090_-66+13129delCTATGTTTATATTCGTATATGTATAC ACATACATATGCAC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244819	CACATATG others(33): Show CACATATGCACCTATGTTTATATACGTATATGTATACACAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp1 NA21309.hp2 HG03516.hp1 NA20129.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0001c0001t0057 a0011c0021t0013 a0001c0001t0001 a0001c0001t0057 a0011c0021t0013	a0001c0001t0001g0089 a0001c0001t0057g0090 a0011c0021t0013g0091 a0001c0001t0001g0089 a0001c0001t0057g0090 a0011c0021t0013g0091	3	276	0.0109	-40	c.-66 others(59): Show c.-66+13248_-66+13287delATGTTTATATACGTATATGTATACAC ATACATATGCACCT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390074	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0029 a0001c0002t0046g0029	1	276	0.0036	-40	c.178 others(59): Show c.1788+4565_1788+4604delGTATATATATATATATATATATATGT ATATATATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72804017	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02970.hp2 HG01891.hp1 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0005t0001g0202 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0005t0001g0202	3	210	0.0143	-40	c.151 others(59): Show c.151-30324_151-30285delTATATATATATATATATATATATATA TATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDGA2_chr14_46835092_47680605	47053620	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01891.hp1 others(4): Show HG01081.hp2 HG01175.hp2 HG01891.hp1 HG01981.hp1 HG02717.hp2 HG02738.hp2 NA18994.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0005t0007 a0002c0002t0001 a0002c0002t0005 a0003c0004t0004	a0001c0001t0001g0044 a0001c0001t0008g0012 a0001c0005t0001g0064 others(4): Show a0001c0001t0001g0044 a0001c0001t0008g0012 a0001c0005t0001g0064 a0001c0005t0007g0024 a0002c0002t0001g0053 a0002c0002t0005g0073 a0003c0004t0004g0003	7	120	0.0583	-40	c.152 others(59): Show c.1525+7589_1525+7628delGTGTGTATATATATATATATATATAT ATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	7/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18955.hp1 NA18991.hp1 HG03704.hp1 NA18955.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0140 a0002c0002t0002g0148 a0002c0002t0002g0001 a0002c0002t0002g0140 a0002c0002t0002g0148	3	398	0.0075	-40	c.-18 others(51): Show c.-1886_-1847delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046309	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02559.hp2 HG02976.hp1 others(4): Show HG01934.hp2 HG02559.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp1 NA18522.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0086 a0001c0001t0005g0047 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0086 a0001c0001t0005g0047 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0181	7	398	0.0176	-40	c.-18 others(51): Show c.-1851_-1812delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC GCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1796		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046311	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	398	0.0025	-40	c.-18 others(51): Show c.-1849_-1810delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC GCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1794		chr7	TogoVar
MDM2_chr12_68803177_68850544	68806995	GAGAAGGG others(33): Show GAGAAGGGAAGGATATAACTTTATAAAAAAAAAAAAGCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(116): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19006.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(21): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0004t0069 a0002c0006t0065	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0035 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0015g0027 a0001c0001t0015g0159 a0001c0001t0015g0160 a0001c0001t0016g0241 a0001c0001t0016g0267 a0001c0001t0016g0280 a0001c0001t0016g0285 a0001c0001t0021g0028 a0001c0001t0021g0158 a0001c0001t0022g0276 a0001c0001t0022g0289 a0001c0001t0022g0296 a0001c0001t0036g0026 a0001c0001t0036g0152 a0001c0001t0037g0002 a0001c0001t0037g0288 a0001c0001t0063g0153 a0001c0001t0064g0150 a0001c0001t0066g0149 a0001c0001t0067g0151 a0001c0001t0068g0162 a0001c0001t0070g0161 a0001c0001t0071g0148 a0001c0001t0072g0154 a0001c0001t0073g0260 a0001c0001t0074g0243 a0001c0001t0075g0157 a0001c0001t0076g0155 a0001c0001t0077g0261 a0001c0001t0078g0282 a0001c0001t0079g0310 a0001c0004t0069g0156 a0002c0006t0065g0026	119	388	0.3067	-40	c.-14 others(51): Show c.-1482_-1443delAGAAGGGAAGGATATAACTTTATAAAAAAAAAAA AGCTGC	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1181		chr12	TogoVar
MDM2_chr12_68803177_68850544	68833247	TTATATAT others(33): Show TTATATATATTTATATAATTATATATTTATATAAATATAAA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18978.hp1 NA19063.hp1 NA18947.hp2 NA18978.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0048 a0001c0001t0003 a0001c0001t0048	a0001c0001t0003g0034 a0001c0001t0003g0207 a0001c0001t0048g0034 a0001c0001t0003g0034 a0001c0001t0003g0207 a0001c0001t0048g0034	3	388	0.0077	-40	c.685 others(57): Show c.685-2564_685-2525delTTATATATTTATATAAATATAAATATAT ATATTTATATAA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ME1_chr6_83205402_83436051	83263745	CAACATAA others(33): Show CAACATAACATAACATAACATAACATAACATAACATAACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02074.hp1 HG02630.hp1 others(2): Show HG01884.hp1 HG02074.hp1 HG02630.hp1 NA18522.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0004	a0001c0001t0003g0258 a0001c0002t0001g0206 a0001c0002t0004g0183 others(2): Show a0001c0001t0003g0258 a0001c0002t0001g0206 a0001c0002t0004g0183 a0001c0003t0004g0145 a0001c0003t0004g0151	5	272	0.0184	-40	c.705 others(59): Show c.705-10047_705-10008delATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
MECOM_chr3_169078507_169668712	169378434	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAGGAAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	160	0.0063	-40	c.375 others(57): Show c.375+2713_375+2752delGCTTGCTTGCTTGCTTGCTTTCCTTCTT TCTTTCTTTCTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169378447	AAGAAGGA others(33): Show AAGAAGGAAAGCAAGCAAGCAAGCAAGCAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0102 a0002c0002t0005g0102	1	160	0.0063	-40	c.375 others(57): Show c.375+2700_375+2739delCTCTCTCTTTCTTGCTTGCTTGCTTGCT TGCTTTCCTTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081299	CTCCCTTC others(33): Show CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp2 HG01167.hp1 others(18): Show HG00673.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01952.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02922.hp1 HG03017.hp2 HG03225.hp1 NA18966.hp1 NA18986.hp2 NA18990.hp1 NA19058.hp1 NA19066.hp2 NA19082.hp1 NA19090.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0033 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(12): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0009 a0001c0010t0002 a0001c0010t0038 a0001c0033t0018 a0002c0003t0006	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0002t0001g0189 others(18): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0002t0001g0189 a0001c0002t0003g0279 a0001c0002t0004g0048 a0001c0002t0007g0168 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0002g0184 a0001c0004t0002g0191 a0001c0004t0003g0195 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0252 a0001c0005t0002g0190 a0001c0005t0002g0254 a0001c0007t0009g0035 a0001c0010t0002g0253 a0001c0010t0038g0124 a0001c0033t0018g0170 a0002c0003t0006g0049	21	280	0.0750	-40	c.-47 others(51): Show c.-4766_-4727delTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4364		chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(33): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0005 a0001c0002t0053g0005	1	280	0.0036	-40	c.355 others(57): Show c.3550+358_3550+397delTATTTTATTTTATTTTATTTTATTTCAT TTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 3176 hits)