Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LRP5_chr11_68307591_68454275	68390682	CGTGGACG others(45): Show CGTGGACGCAGCCTCGCCCTGCCGCTGTGGTCGGGTTTCAGTGGCCTCGT CCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp1 others(44): Show HG00140.hp2 HG00558.hp2 HG00621.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02615.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18952.hp2 NA18955.hp1 NA18966.hp2 NA18983.hp1 NA18998.hp1 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0014	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0030 a0001c0043 a0001c0046 a0002c0003 a0002c0037 a0003c0006 a0003c0011 a0003c0014 a0003c0016 a0004c0008 a0008c0039 a0014c0048	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0030t0001 a0001c0043t0001 a0001c0046t0001 a0002c0003t0001 a0002c0037t0001 a0003c0006t0001 a0003c0011t0001 a0003c0014t0001 a0003c0016t0001 a0004c0008t0001 a0008c0039t0001 a0014c0048t0001	a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 others(44): Show a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0111 a0001c0005t0001g0015 a0001c0007t0001g0016 a0001c0007t0001g0017 a0001c0007t0001g0100 a0001c0007t0001g0101 a0001c0007t0001g0151 a0001c0009t0001g0145 a0001c0030t0001g0011 a0001c0043t0001g0178 a0001c0046t0001g0136 a0002c0003t0001g0013 a0002c0037t0001g0167 a0003c0006t0001g0024 a0003c0006t0001g0025 a0003c0011t0001g0150 a0003c0014t0001g0007 a0003c0016t0001g0028 a0004c0008t0001g0065 a0004c0008t0001g0140 a0004c0008t0001g0195 a0004c0008t0001g0196 a0004c0008t0001g0197 a0004c0008t0001g0199 a0008c0039t0001g0189 a0014c0048t0001g0182	47	210	0.2238	-52	c.158 others(69): Show c.1584+682_1584+733delTGTGGACGCAGCCTCGCCCTGCCGCTGT GGTCGGGTTTCAGTGGCCTCGTCC		LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC14_chr8_144512992_144530172	144522160	TGCCGGCC others(45): Show TGCCGGCCAGTCCTTGCTCTTCCCACCTTTCGGAGGCCCAAGATCCTACT GTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0001 a0001c0002t0051g0001	1	412	0.0024	-52	c.69 others(61): Show c.692_*743delTCCTTGCTCTTCCCACCTTTCGGAGGCCCAAGATCC TACTGTGGCCGGCCAG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding	4/4				692	INFO_REALIGN_3_PRIME	chr8	TogoVar
LRRC24_chr8_144517388_144532033	144522160	TGCCGGCC others(45): Show TGCCGGCCAGTCCTTGCTCTTCCCACCTTTCGGAGGCCCAAGATCCTACT GTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	-52	c.26 others(61): Show c.263_*314delCACAGTAGGATCTTGGGCCTCCGAAAGGTGGGAAGA GCAAGGACTGGCCGGC		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					227		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132358783	GTGGTGGA others(45): Show GTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCG AGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02886.hp1 others(3): Show HG02145.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0045 a0001c0003t0006 a0001c0001t0002 a0001c0001t0045 a0001c0003t0006	a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0123 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0045g0125 a0001c0003t0006g0088	6	286	0.0210	-52	c.117 others(71): Show c.1171-2665_1171-2614delTGTGGGGAGGAGCCGAGGTGGTGGAG CGTGGGAAGGAGCCGAGCTGGTGGAG		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358931	CAGTGTGG others(45): Show CAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGG TGG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19009.hp2 NA18947.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	273	0.0073	-52	c.117 others(71): Show c.1171-2523_1171-2472delTGTGGGGAGGAGCCAAGGTGGTGGAG TGTGGGGAGGAGCCGAGGTGGTGGAG		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358940	GAGGAGCC others(45): Show GAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTG GGA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19011.hp2 NA19082.hp2 HG03942.hp1 NA19011.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0001 a0001c0001t0002 a0001c0001t0037	a0001c0001t0001g0141 a0001c0001t0002g0185 a0001c0001t0037g0212 a0001c0001t0001g0141 a0001c0001t0002g0185 a0001c0001t0037g0212	3	281	0.0107	-52	c.117 others(71): Show c.1171-2509_1171-2458delAAGGTGGTGGAGTGTGGGGAGGAGCC GAGGTGGTGGAGCGTGGGAAGGAGCC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358948	AAGGTGGT others(45): Show AAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAG CCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18966.hp1 NA19000.hp2 others(2): Show HG00099.hp1 NA18966.hp1 NA19000.hp2 NA19005.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003	a0001c0001t0054g0027 a0001c0002t0001g0258 a0001c0002t0001g0259 others(2): Show a0001c0001t0054g0027 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0003g0239 a0001c0002t0003g0241	5	157	0.0318	-52	c.117 others(71): Show c.1171-2497_1171-2446delTGTGGGGAGGAGCCGAGGTGGTGGAG CGTGGGAAGGAGCCGAGGTGGTGGAG		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364748	GCCCACAC others(45): Show GCCCACACTTACACTCATGCTTACATCTACCTCCACGCCCACACTCACAC CCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0202 a0001c0001t0009g0202	1	252	0.0040	-52	c.129 others(69): Show c.1290-662_1290-611delTCATGCTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTTACAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69614006	GTGATAAT others(45): Show GTGATAATTATCATTCATAAAGTTTCAGACATTTGAAAATTATCATTTAT GAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02486.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0031 a0001c0017t0052 a0001c0003t0031 a0001c0017t0052	a0001c0003t0031g0034 a0001c0017t0052g0017 a0001c0003t0031g0034 a0001c0017t0052g0017	2	106	0.0189	-52	c.2+4 others(67): Show c.2+45400_2+45451delAAAATTATCATTTATGAATGATAATTATCA TTCATAAAGTTTCAGACATTTG		LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC7_chr1_69562922_70149364	69717790	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0092 a0001c0001t0086g0092	1	81	0.0123	-52	c.100 others(71): Show c.100+39315_100+39366delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAAA		LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC7_chr1_69562922_70149364	69717801	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGA AAG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0030 a0001c0002t0036g0030	1	106	0.0094	-52	c.100 others(71): Show c.100+39350_100+39401delAAGAAAGAAAGAAAAAAGAAAGAAAG GAAAGAAAGAAAGAAAGAAAGAAAGA		LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC9_chr14_59915144_60071817	59975099	ATACATAT others(45): Show ATACATATATATATGTATATATATATATGTATATATATATACATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02559.hp2 HG03139.hp2 others(6): Show HG01952.hp1 HG02559.hp2 HG03139.hp2 HG03516.hp1 NA18939.hp1 NA18956.hp2 NA19002.hp1 NA19057.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0041 a0001c0001t0045	a0001c0001t0001g0077 a0001c0001t0001g0234 a0001c0001t0001g0299 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0234 a0001c0001t0001g0299 a0001c0001t0003g0170 a0001c0001t0011g0021 a0001c0001t0011g0097 a0001c0001t0019g0083 a0001c0001t0041g0229 a0001c0001t0045g0232	9	320	0.0281	-52	c.163 others(69): Show c.1639+394_1639+445delCATATATATATGTATATATATATATGTA TATATATATACATATATATATGTA		LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	13/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC9_chr14_59915144_60071817	59975102	CATATATA others(45): Show CATATATATATGTATATATATATATGTATATATATATACATATATATATG TAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0145 a0001c0002t0017g0175 a0001c0002t0002g0145 a0001c0002t0017g0175	2	315	0.0063	-52	c.163 others(69): Show c.1639+418_1639+469delTGTATATATATATACATATATATATGTA TATATATATATGTATATATATATA		LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	13/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
LSG1_chr3_194635791_194677191	194645523	CACACACA others(45): Show CACACACAGACAGACACACACACACACACACACACACACACACACACAGA CAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18955.hp1 NA18977.hp1 others(5): Show HG02258.hp2 NA18955.hp1 NA18977.hp1 NA18983.hp2 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0009 a0001c0001t0003 a0002c0002t0001 a0002c0002t0009	a0001c0001t0003g0266 a0002c0002t0001g0002 a0002c0002t0001g0030 others(1): Show a0001c0001t0003g0266 a0002c0002t0001g0002 a0002c0002t0001g0030 a0002c0002t0009g0319	8	403	0.0199	-52	c.162 others(69): Show c.1623+589_1623+640delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTCTGTCTGTGTGT		LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13						chr3	TogoVar
LSG1_chr3_194635791_194677191	194645531	GACAGACA others(45): Show GACAGACACACACACACACACACACACACACACACACACAGACAGACACA CAC	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0278 a0001c0001t0075g0278	1	303	0.0033	-52	c.162 others(69): Show c.1623+581_1623+632delGTGTGTGTCTGTCTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTCTGT		LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13						chr3	TogoVar
LSM8_chr7_118179164_118209035	118206968	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01071.hp2 others(45): Show HG00323.hp1 HG01070.hp2 HG01071.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG02615.hp2 HG02723.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03942.hp2 NA18943.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18964.hp1 NA18972.hp2 NA18977.hp2 NA18982.hp2 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp1 NA19072.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 others(10): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100	a0001c0001t0004g0005 a0001c0001t0004g0028 a0001c0001t0004g0029 others(15): Show a0001c0001t0004g0005 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0009g0007 a0001c0001t0009g0030 a0001c0001t0023g0017 a0001c0001t0037g0031 a0001c0001t0038g0007 a0001c0001t0048g0028 a0001c0001t0094g0005 a0001c0001t0095g0007 a0001c0001t0096g0007 a0001c0001t0097g0061 a0001c0001t0098g0027 a0001c0001t0099g0027 a0001c0001t0100g0005	48	64	0.7500	-52	c.14 others(65): Show c.14967_*15018delTATATATATATATATATATATATATATATATA TATATATATATATATATATA		LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding					2934		chr7	TogoVar
LTBP1_chr2_32941953_33404509	33135520	AACGTGGA others(45): Show AACGTGGATTTGGGGAAGACAGACTGGTAGATTACTCTCAGTACTCCTTT TTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03017.hp1 HG03831.hp1 HG00738.hp1 HG03017.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0005 a0001c0002t0004 a0001c0003t0005	a0001c0002t0004g0104 a0001c0002t0004g0120 a0001c0003t0005g0146 a0001c0002t0004g0104 a0001c0002t0004g0120 a0001c0003t0005g0146	3	162	0.0185	-52	c.120 others(69): Show c.1201+610_1201+661delTTTACGTGGATTTGGGGAAGACAGACTG GTAGATTACTCTCAGTACTCCTTT		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr2	TogoVar
LY96_chr8_73986392_74034079	73996364	CCTTCATT others(45): Show CCTTCATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01255.hp2 others(4): Show HG00099.hp1 HG00639.hp1 HG01255.hp2 HG01433.hp1 HG02559.hp2 NA18942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0295	7	301	0.0233	-52	c.112 others(69): Show c.112+4814_112+4865delCATTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	73996368	CATTCCTT others(45): Show CATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01261.hp1 others(8): Show HG00733.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02148.hp2 HG02293.hp1 HG04115.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0001g0228 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251	11	233	0.0472	-52	c.112 others(69): Show c.112+4815_112+4866delATTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4						chr8	TogoVar
LYNX1_chr8_142766202_142782202	142777431	CCCCGCCT others(45): Show CCCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGCCCCGCCCC GGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01884.hp2 others(43): Show HG01109.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18967.hp1 NA18982.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0037 a0001c0001t0043 a0001c0001t0056 a0002c0002t0024	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0031 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0003g0004 a0001c0001t0004g0005 a0001c0001t0005g0010 a0001c0001t0008g0015 a0001c0001t0008g0076 a0001c0001t0012g0016 a0001c0001t0014g0037 a0001c0001t0014g0106 a0001c0001t0018g0046 a0001c0001t0018g0047 a0001c0001t0018g0062 a0001c0001t0021g0029 a0001c0001t0037g0056 a0001c0001t0043g0107 a0001c0001t0056g0064 a0002c0002t0024g0027	46	319	0.1442	-52	c.-54 others(61): Show c.-542_-491delTCCGGGGCGGGGCCTGCGGTGAACTCGGCTCGGCGG GTGCCCAGGAGGCGGG		LYNX1	ENSG00000180155.20	transcript	ENST00000652477.1	protein_coding					230		chr8	TogoVar
LYSMD3_chr5_90510626_90534584	90530018	GCATCTCG others(45): Show GCATCTCGAATTTTCTTTAGGGTGGGAAAGGACACCTCAAAAACACTGTT GAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	410	0.0024	-52	c.-63 others(61): Show c.-634_-583delGTCAACAGTGTTTTTGAGGTGTCCTTTCCCACCCTA AAGAAAATTCGAGATG		LYSMD3	ENSG00000176018.13	transcript	ENST00000315948.11	protein_coding					435		chr5	TogoVar
MAGI2_chr7_78012055_79458667	79324619	AATATATA others(45): Show AATATATATATTATATATATATAAAATATATATATATTATATATATATAA AAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG02897.hp2 others(3): Show HG00738.hp1 HG01261.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0003t0003 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0004 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0003t0003g0001 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0003t0003g0001 a0001c0003t0004g0002 a0001c0011t0001g0023 a0001c0012t0001g0022	6	35	0.1714	-52	c.301 others(73): Show c.301+128349_301+128400delATTTTATATATATATAATATATAT ATATTTTATATATATATAATATATATAT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MANEAL_chr1_37788847_37806133	37800046	AGTGGCAC others(45): Show AGTGGCACGAGGGCACCCAGATTGAGAAGGCCATTCCCAAGAAGACACCC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0034 a0007c0008t0001g0034	1	436	0.0023	-52	c.121 others(61): Show c.1218_1269delGTGGCACGAGGGCACCCAGATTGAGAAGGCCATTCC CAAGAAGACACCCACC	p.Glu others(5): Show p.Glu406fs	MANEAL	ENSG00000185090.15	transcript	ENST00000373045.11	protein_coding	4/4	1554/2640	1218/1374	406/457			chr1	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(45): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(48): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01109.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03225.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0005 a0001c0001 a0001c0008 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0008t0001 a0003c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 others(46): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0003g0276 a0001c0001t0007g0264 a0001c0001t0008g0244 a0001c0001t0014g0259 a0001c0001t0017g0280 a0001c0008t0001g0253 a0003c0005t0001g0246	51	52	0.9808	-52	c.-38 others(67): Show c.-38+467_-38+518delCACACACACACACACACACACACACACACA CACACACACACACACACACACA		MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13						chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185453958	GATATATA others(45): Show GATATATATGATACATATATATGAGATATATATATGATACATATATATGA GAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG04184.hp2 NA18945.hp2 others(5): Show HG03139.hp1 HG04184.hp2 NA18945.hp2 NA18950.hp2 NA18975.hp1 NA18984.hp1 NA19010.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0002t0044	a0001c0001t0002g0029 a0001c0001t0002g0185 a0001c0001t0005g0014 others(5): Show a0001c0001t0002g0029 a0001c0001t0002g0185 a0001c0001t0005g0014 a0001c0001t0010g0043 a0001c0002t0002g0233 a0001c0002t0002g0253 a0001c0002t0005g0236 a0001c0002t0044g0237	8	211	0.0379	-52	c.127 others(71): Show c.1278+2804_1278+2855delATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20094490	ATATATAT others(45): Show ATATATATATATATATATATATATATGTATATATATATATATATATATAT ATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	207	0.0048	-52	c.130 others(71): Show c.130+22208_130+22259delCATATATATATATATATATATATATA CATATATATATATATATATATATATA		MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16						chrX	TogoVar
MARCO_chr2_118937194_118999660	118966019	GGGAGGAG others(45): Show GGGAGGAGGACACCCTACCAGCACTGCCTGCTACCCCAGGAGGTGGCAGA CCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp2 NA20300.hp1 HG03130.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0017 a0001c0001t0001g0062	3	392	0.0077	-52	c.98- others(67): Show c.98-3085_98-3034delGGAGGACACCCTACCAGCACTGCCTGCTAC CCCAGGAGGTGGCAGACCTGGA		MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCO_chr2_118937194_118999660	118986620	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG AAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp1 HG02155.hp2 others(14): Show HG00280.hp1 HG02055.hp1 HG02155.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp2 HG03490.hp2 NA18940.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp2 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19056.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0036 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0304 a0002c0002t0001g0126 a0002c0002t0001g0136 a0002c0002t0001g0138	17	389	0.0437	-52	c.106 others(71): Show c.1064-3933_1064-3882delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAA		MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAST4_chr5_66591393_67174593	66919925	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0009 a0013c0027t0009	a0013c0027t0009g0030 a0013c0027t0009g0030	1	106	0.0094	-52	c.674 others(71): Show c.674+19947_674+19998delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTC		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
MBP_chr18_76973833_77137783	77018805	TATCCATC others(45): Show TATCCATCTATCCATCCATCCATCCATATATCCACCCATCCATCCATCCA CTC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	394	0.0025	-52	c.140 others(69): Show c.140-1589_140-1538delGAGTGGATGGATGGATGGGTGGATATAT GGATGGATGGATGGATAGATGGAT		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00733.hp2 others(4): Show HG00099.hp2 HG00423.hp2 HG00733.hp2 HG01261.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0034	a0001c0001t0001g0298 a0001c0001t0001g0331 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0298 a0001c0001t0001g0331 a0001c0001t0002g0003 a0001c0001t0003g0326 a0001c0001t0019g0324 a0001c0001t0034g0265	7	10	0.7000	-52	c.122 others(71): Show c.1225-1732_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATATATATATAT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16						chr17	TogoVar
MC2R_chr18_13877044_13920536	13887124	CGGGGAAG others(45): Show CGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCCTCGGGGATG GGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG01884.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0230 a0001c0001t0018g0285 a0001c0001t0004g0230 a0001c0001t0018g0285	2	407	0.0049	-52	c.-12 others(71): Show c.-128-1530_-128-1479delTCCCATCCCCGAGGCTTCCCCAGCAG GTGGGACACAGCACACAGGCTTCCCC		MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1						chr18	TogoVar
MC2R_chr18_13877044_13920536	13887321	AGGGATGG others(45): Show AGGGATGGCAGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCC TCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0231 a0001c0001t0023g0231	1	414	0.0024	-52	c.-12 others(71): Show c.-128-1727_-128-1676delCGAGGCTTCCCCAGCAGGTGGGACAC AGCACACAGGCTTCCCCTGCCATCCC		MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1						chr18	TogoVar
MC2R_chr18_13877044_13920536	13887373	GGGGATGG others(45): Show GGGGATGGCAGGGGAAGCCTGTGTGCTGTGTCCCACCTGCTGGGGAAGCC TCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03130.hp2 others(1): Show HG02647.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0025 a0001c0001t0018 a0001c0001t0025	a0001c0001t0018g0210 a0001c0001t0018g0211 a0001c0001t0025g0045 a0001c0001t0018g0210 a0001c0001t0018g0211 a0001c0001t0025g0045	4	414	0.0097	-52	c.-12 others(71): Show c.-128-1779_-128-1728delTGAGGCTTCCCCAGCAGGTGGGACAC AGCACACAGGCTTCCCCTGCCATCCC		MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	1/1						chr18	TogoVar
MCCC1_chr3_183010218_183104496	183104048	CCCACCAA others(45): Show CCCACCAAGCCTACGCCCACCCGGAACTCCAGCTGGCCCGCAAGCGCCGC GCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	342	0.0029	-52	c.-46 others(63): Show c.-4660_-4609delCGCGCGGCGCTTGCGGGCCAGCTGGAGTTCCGGG TGGGCGTAGGCTTGGTGG		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding					4553		chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183206935	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGA GGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(41): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01952.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18968.hp2 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18994.hp1 NA19007.hp1 NA19010.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0008 a0014 a0015 a0019 a0021 a0023 a0024 a0026 a0027 a0030	a0001c0001 a0002c0002 a0003c0003 others(11): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0008c0007 a0014c0014 a0015c0015 a0019c0022 a0021c0028 a0023c0027 a0024c0030 a0026c0019 a0027c0024 a0030c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0020 a0008c0007t0001 a0014c0014t0001 a0015c0015t0004 a0019c0022t0019 a0021c0028t0015 a0023c0027t0002 a0024c0030t0004 a0026c0019t0001 a0027c0024t0003 a0030c0029t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0002g0161 a0001c0001t0012g0068 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0002g0017 a0002c0002t0002g0144 a0002c0002t0005g0171 a0003c0003t0003g0049 a0004c0004t0001g0135 a0004c0004t0002g0120 a0004c0004t0020g0149 a0008c0007t0001g0044 a0008c0007t0001g0069 a0014c0014t0001g0093 a0015c0015t0004g0125 a0019c0022t0019g0026 a0021c0028t0015g0014 a0023c0027t0002g0124 a0024c0030t0004g0165 a0026c0019t0001g0032 a0027c0024t0003g0058 a0030c0029t0001g0115	44	174	0.2529	-52	c.271 others(69): Show c.2712+621_2712+672delCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	23/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183351198	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATTTATTTATTT ATT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01169.hp1 others(41): Show HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18950.hp2 NA18957.hp1 NA18968.hp2 NA18969.hp1 NA18985.hp1 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0014 a0016 a0017 a0020 a0022 a0026 a0028	a0001c0001 a0001c0016 a0001c0023 others(16): Show a0001c0001 a0001c0016 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0007c0005 a0008c0007 a0009c0010 a0009c0032 a0010c0009 a0011c0011 a0014c0014 a0016c0017 a0017c0018 a0020c0031 a0022c0021 a0026c0019 a0028c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0016t0024 a0001c0023t0010 a0002c0002t0005 a0002c0002t0016 a0003c0003t0003 a0004c0004t0002 a0004c0004t0020 a0004c0004t0022 a0007c0005t0001 a0007c0005t0009 a0008c0007t0001 a0008c0007t0002 a0009c0010t0002 a0009c0010t0007 a0009c0010t0013 a0009c0032t0011 a0010c0009t0001 a0010c0009t0002 a0011c0011t0002 a0014c0014t0001 a0014c0014t0002 a0016c0017t0001 a0017c0018t0003 a0020c0031t0003 a0022c0021t0003 a0026c0019t0001 a0028c0034t0001	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 others(41): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0134 a0001c0001t0002g0054 a0001c0001t0002g0122 a0001c0001t0012g0068 a0001c0016t0024g0166 a0001c0023t0010g0008 a0002c0002t0005g0171 a0002c0002t0016g0158 a0003c0003t0003g0049 a0004c0004t0002g0120 a0004c0004t0020g0149 a0004c0004t0022g0169 a0007c0005t0001g0033 a0007c0005t0001g0048 a0007c0005t0001g0053 a0007c0005t0001g0073 a0007c0005t0009g0176 a0008c0007t0001g0036 a0008c0007t0001g0044 a0008c0007t0001g0069 a0008c0007t0002g0132 a0009c0010t0002g0127 a0009c0010t0007g0159 a0009c0010t0013g0070 a0009c0010t0013g0116 a0009c0032t0011g0152 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130 a0011c0011t0002g0031 a0014c0014t0001g0093 a0014c0014t0002g0022 a0014c0014t0002g0148 a0016c0017t0001g0153 a0016c0017t0001g0154 a0017c0018t0003g0045 a0017c0018t0003g0108 a0020c0031t0003g0074 a0022c0021t0003g0027 a0026c0019t0001g0032 a0028c0034t0001g0104	44	172	0.2558	-52	c.276 others(69): Show c.276-9620_276-9569delAATAAATAAATAAATATATATATATATA TATATATATATATATATATATATA		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29						chr3	TogoVar
MCTP2_chr15_94226561_94488952	94243036	CACGTGTA others(45): Show CACGTGTATATGTGTATCTACACATACACGTGTATATGTGTATCTACACA TAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp2 HG01496.hp1 others(20): Show HG01099.hp1 HG01169.hp2 HG01496.hp1 HG01978.hp2 HG02630.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 NA18747.hp2 NA18949.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18995.hp1 NA19002.hp1 NA19009.hp1 NA19065.hp1 NA19084.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0016 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0006t0050 a0001c0016t0047 a0002c0003t0005 a0002c0003t0008 a0002c0004t0007	a0001c0001t0001g0022 a0001c0001t0001g0237 a0001c0001t0001g0238 others(20): Show a0001c0001t0001g0022 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0020 a0001c0001t0002g0048 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0004g0009 a0001c0001t0006g0016 a0001c0001t0040g0008 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0038 a0001c0002t0002g0019 a0001c0006t0050g0037 a0001c0016t0047g0103 a0002c0003t0005g0012 a0002c0003t0008g0011 a0002c0003t0008g0017 a0002c0004t0007g0007 a0002c0004t0007g0047	23	273	0.0842	-52	c.-66 others(71): Show c.-66+11393_-66+11444delACATACACGTGTATATGTGTATCTAC ACATATACGTGTATATGTGTATCTAC		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MED12L_chr3_151080664_151441653	151293586	CACACACA others(45): Show CACACACACACACACACACACACACACACACACGGTCCTAAAATGAAGCC CTT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0008 a0008	a0008c0028 a0008c0028	a0008c0028t0054 a0008c0028t0054	a0008c0028t0054g0006 a0008c0028t0054g0006	1	278	0.0036	-52	c.225 others(73): Show c.2251-56440_2251-56389delGGTCCTAAAATGAAGCCCTTACAC ACACACACACACACACACACACACACAC		MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr3	TogoVar
MED16_chr19_862963_898187	866865	ACCCCTCG others(45): Show ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0049 a0006c0011t0001g0049	1	54	0.0185	-52	c.11 others(63): Show c.1184_*1235delGTGCGGGCCCGCAGTGGGTGGACGGAGAGGAGAT GGGAGCGCTGGCGAGGGG		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding					1097		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3586147	GTGTGTGT others(45): Show GTGTGTGTGAGGACACATGTCCTGTGTGTGGGTGTGAGTGTGGACACACG TGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0002 a0051 a0002 a0051	a0002c0110 a0051c0066 a0002c0110 a0051c0066	a0002c0110t0011 a0051c0066t0017 a0002c0110t0011 a0051c0066t0017	a0002c0110t0011g0253 a0051c0066t0017g0258 a0002c0110t0011g0253 a0051c0066t0017g0258	2	290	0.0069	-52	c.377 others(69): Show c.377-6270_377-6219delGCACGTGTGTCCACACTCACACCCACAC ACAGGACATGTGTCCTCACACACA		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MELTF_chr3_196996740_197034817	197015135	CCTGTCCC others(45): Show CCTGTCCCCTGGGGTGGGTGCTGGCCCCTGCGGTCGCTCCTCCCCGCCTG TCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	418	0.0024	-52	c.123 others(69): Show c.1233+178_1233+229delAGACAGGCGGGGAGGAGCGACCGCAGGG GCCAGCACCCACCCCAGGGGACAG		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding	9/15						chr3	TogoVar
MEP1A_chr6_46788389_46844778	46807572	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02886.hp2 HG01106.hp2 HG02257.hp2 HG02886.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0133 a0006c0005t0003g0134 a0006c0005t0003g0135 a0006c0005t0003g0133 a0006c0005t0003g0134 a0006c0005t0003g0135	3	350	0.0086	-52	c.263 others(69): Show c.263-1836_263-1785delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAA		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
METAP1D_chr2_171994953_172087430	172042762	TGTGTGTG others(45): Show TGTGTGTGTATATGTACACATATACGTGTGTGTGTGTATATGTACACATA TAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0316 a0001c0003t0006g0316	1	354	0.0028	-52	c.41- others(69): Show c.41-18727_41-18676delATATGTACACATATACGTGTGTGTGTGT ATATGTACACATATACGTGTGTGT		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MFRP_chr11_119333942_119351705	119346379	AAGGGGGA others(45): Show AAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGG TCT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	316	0.0032	-52	c.54+ others(62): Show c.54+29_55-6delAGACCCAGCACCAGTGGTCACTGCTGCCCTCAGCC CTCAAGTATCTCCCCCT		MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	1/14						chr11	TogoVar
MIA2_chr14_39228915_39355694	39277696	ATATATAT others(45): Show ATATATATATATATATATATGTGTGTATATATATATATATATATATATGT GTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0002 a0015c0020t0002	a0015c0020t0002g0002 a0015c0020t0002g0002	1	365	0.0027	-52	c.201 others(69): Show c.2019+651_2019+702delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATAT		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MLPH_chr2_237482251_237560322	237543478	CACGGTAG others(45): Show CACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18984.hp2 NA18979.hp2 NA18984.hp2	a0001 a0022 a0001 a0022	a0001c0022 a0022c0027 a0001c0022 a0022c0027	a0001c0022t0001 a0022c0027t0003 a0001c0022t0001 a0022c0027t0003	a0001c0022t0001g0269 a0022c0027t0003g0175 a0001c0022t0001g0269 a0022c0027t0003g0175	2	241	0.0083	-52	c.153 others(69): Show c.1539+820_1539+871delACGGTAGTGACTGGGGCGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543546	GGGACAGT others(45): Show GGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTG GGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG03486.hp2 HG02258.hp2 HG02717.hp1 HG03486.hp2	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0008c0029 a0012c0013 a0001c0001 a0008c0029 a0012c0013	a0001c0001t0002 a0008c0029t0001 a0012c0013t0002 a0001c0001t0002 a0008c0029t0001 a0012c0013t0002	a0001c0001t0002g0040 a0008c0029t0001g0127 a0012c0013t0002g0126 a0001c0001t0002g0040 a0008c0029t0001g0127 a0012c0013t0002g0126	3	281	0.0107	-52	c.153 others(69): Show c.1539+905_1539+956delCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGAGGACAGTGGTGAGTGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543956	TGGGGGAC others(45): Show TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG01346.hp1 HG02258.hp1	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0003 a0015c0023t0016 a0015c0023t0003 a0015c0023t0016	a0015c0023t0003g0256 a0015c0023t0016g0107 a0015c0023t0003g0256 a0015c0023t0016g0107	2	198	0.0101	-52	c.153 others(71): Show c.1539+1302_1539+1353delGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTGGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MOBP_chr3_39462680_39508027	39469153	TATGTGTG others(45): Show TATGTGTGTGTGTATACATATATACATGTGTGTGTGTGTATATACATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02027.hp1 others(25): Show HG00544.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02523.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18982.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0040 others(19): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0005g0041	28	395	0.0709	-52	c.-89 others(69): Show c.-89+1424_-89+1475delGTATACATATATACATGTGTGTGTGTGT ATATACATATATACATGTGTGTGT		MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results