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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTATATAT G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 NA18941.hp1 others(4): Show HG00423.hp1 HG01106.hp1 NA18941.hp1 NA18983.hp2 NA18998.hp2 NA19054.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0032 a0001c0001t0004g0017 a0001c0001t0004g0019 others(4): Show a0001c0001t0001g0032 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044	7	269	0.0260	50	c.81- others(67): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATATGTATATATGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66420721	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATGTATATATGT G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19012.hp2 NA19086.hp1 NA18959.hp2 NA19012.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0147 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0147	3	265	0.0113	50	c.81- others(67): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATGTATATATGTGT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469693	G G	GACACACA others(43): Show GACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	189	0.0053	50	c.569 others(69): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACACACA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K1_chr15_66381912_66496544	66469723	C C	CACACACA others(43): Show CACACACACACACACACACACACACACACACACACACACACACACACACA T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19079.hp2 NA18963.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0005g0239 a0001c0001t0002g0050 a0001c0001t0005g0239	2	253	0.0079	50	c.569 others(69): Show c.569-12031_569-12030insCACACACACACACACACACACACACA CACACACACACACACACACACATA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K3_chr17_21279711_21320232	21291346	T T	TAGAATAC others(43): Show TAGAATACAATAGAATACAGTACAATACAATACAACACAACACAACACAA C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG01099.hp2 others(47): Show HG00408.hp2 HG00741.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18952.hp2 NA18956.hp1 NA18980.hp1 NA18990.hp1 NA19001.hp1 NA19002.hp1 NA19030.hp2 NA19063.hp2 NA19087.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0229 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0016g0014 a0001c0001t0018g0070 a0002c0008t0001g0073	50	152	0.3289	50	c.49+ others(65): Show c.49+6378_49+6379insGAATACAATAGAATACAGTACAATACAATA CAACACAACACAACACAACA	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K3_chr17_21279711_21320232	21299396	C C	CTGCCTCA others(43): Show CTGCCTCAGGGCTCAGGGCGTGCTATGCCCGTTCCTCCCACAGAACCTAC T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	364	0.0027	50	c.165 others(65): Show c.165+470_165+471insTGCCTCAGGGCTCAGGGCGTGCTATGCCCG TTCCTCCCACAGAACCTACT	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	3/11			chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67575918	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	190	0.0053	50	c.253 others(67): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2_chr2_209419047_209739112	209434874	T T	TTATATAT others(43): Show TTATATATATATGTTATATATATATGTTATATATGTTATATATATATGTT A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0040 a0011c0020t0040	a0011c0020t0040g0084 a0011c0020t0040g0084	1	116	0.0086	50	c.-22 others(71): Show c.-222+10607_-222+10608insATGTTATATATATATGTTATATAT GTTATATATATATGTTATATATATAT	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP2_chr2_209419047_209739112	209435948	T T	TATATATA others(43): Show TATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG02080.hp2 others(14): Show HG01358.hp1 HG01891.hp2 HG02080.hp2 HG02451.hp1 HG02922.hp2 HG02965.hp1 HG03239.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp2 NA18984.hp1 NA18986.hp2 NA18995.hp2 NA19056.hp2 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0025 a0002c0002t0004 others(5): Show a0001c0001t0001 a0001c0001t0025 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0002t0022 a0003c0004t0001 a0003c0004t0026	a0001c0001t0001g0002 a0001c0001t0001g0110 a0001c0001t0001g0128 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0025g0141 a0002c0002t0004g0145 a0002c0002t0009g0099 a0002c0002t0014g0143 a0002c0002t0022g0100 a0003c0004t0001g0098 a0003c0004t0026g0109	17	119	0.1429	50	c.-22 others(71): Show c.-222+11720_-222+11721insTAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATA	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185453828	T T	TATATATG others(43): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(41): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01256.hp2 HG02015.hp2 HG02040.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG03209.hp1 HG03453.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18944.hp1 NA18949.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0050 a0001c0001t0052 a0001c0001t0058 a0001c0002t0004 a0001c0002t0055	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(41): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0195 a0001c0001t0001g0249 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0084 a0001c0001t0003g0102 a0001c0001t0003g0109 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0181 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0269 a0001c0001t0004g0034 a0001c0001t0004g0133 a0001c0001t0004g0183 a0001c0001t0014g0250 a0001c0001t0018g0077 a0001c0001t0018g0078 a0001c0001t0020g0123 a0001c0001t0050g0148 a0001c0001t0052g0012 a0001c0001t0058g0103 a0001c0002t0004g0234 a0001c0002t0055g0201	44	252	0.1746	50	c.127 others(69): Show c.1278+2439_1278+2440insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453958	G G	GATATATA others(43): Show GATATATATGATACATATATATGAGATATATATATGATACATATATGAGA T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0015 a0001c0003t0008g0015	1	204	0.0049	50	c.127 others(69): Show c.1278+2608_1278+2609insGAGATATATATATGATACATATATAT GAGATATATATATGATACATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453984	T T	TATATATG others(43): Show TATATATGTGATACATATATATGAGATATATATGAGATACATATATATGA G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18968.hp2 NA18954.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0251 a0001c0001t0003g0094 a0001c0001t0003g0251	2	267	0.0075	50	c.127 others(69): Show c.1278+2595_1278+2596insGTGATACATATATATGAGATATATAT GAGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185454010	T T	TATATATA others(43): Show TATATATATGATACATATATATGAGATATATATATGATACATATATATGA G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18994.hp1 NA18955.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0096 a0001c0001t0014g0045 a0001c0001t0001g0096 a0001c0001t0014g0045	2	213	0.0094	50	c.127 others(69): Show c.1278+2624_1278+2673dupGATACATATATATGAGATATATATAT GATACATATATATGAGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(43): Show AGAGAGGGAGGGAGGGATGGGGGAGAGAGAGGGGAGAGGGGGGAGAGAGG G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0004 a0002c0014t0004	a0002c0014t0004g0010 a0002c0014t0004g0010	1	105	0.0095	50	c.525 others(67): Show c.525+8507_525+8508insCCCTCTCTCCCCCCTCTCCCCTCTCTCT CCCCCATCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0163 a0003c0005t0005g0163	1	6	0.1667	50	c.160 others(69): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATATATATATATATATATTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127326287	T T	TGAAAACA others(43): Show TGAAAACATTTTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	191	0.0052	50	c.597 others(65): Show c.597+399_597+400insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTAAAATGTTTTC	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	8/16			chr2	TogoVar
MAP6_chr11_75581918_75674038	75586036	A A	ATATATAT others(43): Show ATATATATATACGTGTATATATATATATACGTGTATATATATATATACGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0333 a0002c0019t0001g0333	1	381	0.0026	50	c.10 others(61): Show c.1022_*1023insCACGTATATATATATATACACGTATATATATATA TACACGTATATATATA	MAP6	ENSG00000171533.12	transcript	ENST00000304771.8	protein_coding		881		chr11	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(43): Show GCGCGCGCAAACACACACACACACACACACACACACACACACACACACAC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0036 a0001c0002t0019g0036	1	62	0.0161	50	c.-39 others(61): Show c.-3938_-3937insCGCGCGCAAACACACACACACACACACACACACA CACACACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK8IP3_chr16_1701195_1775351	1714348	C C	CTTTGCGG others(43): Show CTTTGCGGAGACCCTTAGAGCCCACAGCATCATTACTCTGGTGCATTTTC T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02895.hp1 others(8): Show HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0005 a0001c0001t0007 a0001c0026t0007 a0001c0001t0005 a0001c0001t0007 a0001c0026t0007	a0001c0001t0005g0016 a0001c0001t0005g0206 a0001c0001t0005g0208 others(7): Show a0001c0001t0005g0016 a0001c0001t0005g0206 a0001c0001t0005g0208 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0202 a0001c0001t0007g0205 a0001c0001t0007g0207 a0001c0001t0007g0243 a0001c0026t0007g0204	11	328	0.0335	50	c.318 others(67): Show c.318+7696_318+7745dupCGGAGACCCTTAGAGCCCACAGCATCAT TACTCTGGTGCATTTTCTTTTG	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAP1_chr9_125432394_125712208	125623777	C C	CGGCCAGC others(43): Show CGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02738.hp1 HG01099.hp1 HG02055.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0057 a0001c0001t0002g0090 a0001c0001t0001g0158 a0001c0001t0002g0057 a0001c0001t0002g0090	3	39	0.0769	50	c.498 others(69): Show c.498+33873_498+33874insAGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGCACGGCTGGCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125623805	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19030.hp1 HG02738.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0066 a0001c0001t0001g0154 a0001c0001t0002g0066	2	297	0.0067	50	c.498 others(69): Show c.498+33845_498+33846insCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGCTGACCCCCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125623822	C C	CGCCTGGC others(43): Show CGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC G	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0187 a0001c0001t0013g0187	1	298	0.0034	50	c.498 others(69): Show c.498+33828_498+33829insCGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCAGGC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624529	T T	TGCCCGGC others(43): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	294	0.0034	50	c.498 others(69): Show c.498+33121_498+33122insGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCAGCTGGCCGGGC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624547	G G	GTCCGGGA others(43): Show GTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	169	0.0059	50	c.498 others(69): Show c.498+33103_498+33104insTGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCCACCTCCCTCCCGGA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MARF1_chr16_15589387_15648154	15591942	C C	CATAATAT others(43): Show CATAATATATAGATATATATCTATATATAATATATAGATATATATCTATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	302	0.0033	50	c.47 others(61): Show c.4750_*4751insATATAGATATATATCTATATATTATATATAGATA TATATCTATATATTAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2444		chr16	TogoVar
MARF1_chr16_15589387_15648154	15591945	A A	AATATATA others(43): Show AATATATAGATATATATCTATATATAATATATAGATATATATCTATATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0017 a0001c0001 a0002c0003 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0002c0003t0006 a0002c0003t0027 a0002c0017t0006	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0046 others(37): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0305 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0338 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0011g0330 a0001c0001t0011g0331 a0001c0001t0014g0237 a0002c0003t0006g0039 a0002c0003t0006g0040 a0002c0003t0006g0045 a0002c0003t0027g0285 a0002c0017t0006g0041	42	346	0.1214	50	c.47 others(61): Show c.4747_*4748insAATATATAGATATATATCTATATATTATATATAG ATATATATCTATATAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2441		chr16	TogoVar
MARF1_chr16_15589387_15648154	15591978	G G	GATATATA others(43): Show GATATATATCTATATATAATATATAGATATATATCTATATATTATAGATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	265	0.0038	50	c.47 others(61): Show c.4714_*4715insATATCTATAATATATAGATATATATCTATATATT ATATATAGATATATAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2408		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7062600	T T	TAATTATA others(43): Show TAATTATATATTTTACATTTTATATATAATACAATTATATTATAATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	50	c.-39 others(61): Show c.-3996_-3995insTATATATTATAATATAATTGTATTATATATAAAA TGTAAAATATATAATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3925		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396784	T T	TCATATAT others(43): Show TCATATATACATATATATATTCATATATATATTCATATATATTCATATAT A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	182	0.0055	50	c.343 others(67): Show c.343-4451_343-4450insTATATATGAATATATATGAATATATATA TGAATATATATATGTATATATG	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAAGA others(43): Show AGAGAAGAGAAGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19005.hp1 HG00544.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0010 a0001c0001t0001g0090	2	306	0.0065	50	c.100 others(69): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCTTCTCTTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912373	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	82	0.0122	50	c.300 others(67): Show c.300-3658_300-3657insTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBP_chr18_76973833_77137783	77117910	G G	GGCGGGAC others(43): Show GGCGGGACGGGGGTCAGTGGGTTGGGGCGGGATGGGGGTCAGTGGGTTGG A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02129.hp2 others(3): Show HG00609.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp1 NA18992.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0026 a0001c0002t0006 others(1): Show a0001c0001t0005 a0001c0001t0026 a0001c0002t0006 a0001c0002t0008	a0001c0001t0005g0266 a0001c0001t0005g0319 a0001c0001t0005g0320 others(3): Show a0001c0001t0005g0266 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0026g0382 a0001c0002t0006g0302 a0001c0002t0008g0363	6	394	0.0152	50	c.-25 others(69): Show c.-25-12625_-25-12624insTCCAACCCACTGACCCCCATCCCGCC CCAACCCACTGACCCCCGTCCCGC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77117917	C C	CGGGGGTC others(43): Show CGGGGGTCAGTGGGTTGGGGCGGGATGGGGGTCAGTGGGTTGGAGTGGGA T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(48): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA19065.hp2 NA19066.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0036 a0001c0002t0002 a0001c0002t0007 a0001c0003t0010 a0002c0005t0021 a0002c0006t0001	a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 others(47): Show a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0175 a0001c0001t0002g0316 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0003g0065 a0001c0001t0003g0193 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0108 a0001c0001t0004g0123 a0001c0001t0005g0230 a0001c0001t0005g0309 a0001c0001t0005g0315 a0001c0001t0006g0281 a0001c0001t0006g0312 a0001c0001t0007g0358 a0001c0001t0007g0379 a0001c0001t0008g0353 a0001c0001t0008g0356 a0001c0001t0008g0365 a0001c0001t0008g0368 a0001c0001t0008g0372 a0001c0001t0008g0373 a0001c0001t0009g0032 a0001c0001t0009g0063 a0001c0001t0009g0137 a0001c0001t0009g0171 a0001c0001t0012g0006 a0001c0001t0014g0317 a0001c0001t0015g0340 a0001c0001t0015g0354 a0001c0001t0015g0374 a0001c0001t0016g0346 a0001c0001t0016g0364 a0001c0001t0036g0200 a0001c0002t0002g0314 a0001c0002t0007g0336 a0001c0003t0010g0005 a0002c0005t0021g0002 a0002c0006t0001g0105	51	357	0.1429	50	c.-25 others(69): Show c.-25-12632_-25-12631insATCCCACTCCAACCCACTGACCCCCA TCCCGCCCCAACCCACTGACCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77117935	G G	GGCGGGAT others(43): Show GGCGGGATGGGGGTCAGTGGGTTGGAGTGGGATGGGGGTCAGTGGGTTGG A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03139.hp1 others(1): Show HG03041.hp2 HG03130.hp1 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0044 a0001c0003t0024 a0001c0001t0009 a0001c0001t0044 a0001c0003t0024	a0001c0001t0009g0017 a0001c0001t0009g0141 a0001c0001t0044g0298 others(1): Show a0001c0001t0009g0017 a0001c0001t0009g0141 a0001c0001t0044g0298 a0001c0003t0024g0218	4	394	0.0102	50	c.-25 others(69): Show c.-25-12650_-25-12649insTCCAACCCACTGACCCCCATCCCACT CCAACCCACTGACCCCCATCCCGC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77117942	T T	TGGGGGTC others(43): Show TGGGGGTCAGTGGGTTGGAGTGGGATGGGGGTCAGTGGGTTGGGGCGGGA C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0362 a0001c0001t0015g0362	1	379	0.0026	50	c.-25 others(69): Show c.-25-12657_-25-12656insGTCCCGCCCCAACCCACTGACCCCCA TCCCACTCCAACCCACTGACCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	137	0.0073	50	c.41 others(61): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(43): Show TTATATATATATATATATTTTTATATATATATATATATATTTATATATAT A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 NA18994.hp1 HG01070.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0198 a0001c0001t0005g0184 a0001c0001t0005g0198	2	252	0.0079	50	c.10 others(61): Show c.1093_*1094insTATATATATAAATATATATATATATATATAAAAA TATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(43): Show CATATATATATATATATATATATATACATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	53	0.0189	50	c.671 others(67): Show c.671-5509_671-5508insCATATATATATATATATATATATATATA TATATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MCC_chr5_113017106_113493453	113132427	C C	CATATATA others(43): Show CATATATATATACACACATACATATATATATACACACATACATATATATA T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 NA18970.hp1 others(2): Show HG02293.hp1 HG02293.hp2 NA18970.hp1 NA18977.hp1 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0006 a0001c0004 a0002c0001 a0003c0006	a0001c0004t0002 a0001c0004t0003 a0002c0001t0002 others(2): Show a0001c0004t0002 a0001c0004t0003 a0002c0001t0002 a0002c0001t0014 a0003c0006t0002	a0001c0004t0002g0098 a0001c0004t0003g0092 a0002c0001t0002g0121 others(2): Show a0001c0004t0002g0098 a0001c0004t0003g0092 a0002c0001t0002g0121 a0002c0001t0014g0134 a0003c0006t0002g0016	5	90	0.0556	50	c.885 others(67): Show c.885-9602_885-9601insATATATATATGTATGTGTGTATATATAT ATGTATGTGTGTATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	5/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(43): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACAC A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0060 a0004c0004t0001g0060	1	49	0.0204	50	c.130 others(69): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGCGCGCGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGACAA others(43): Show GAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGA C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18969.hp1 NA18941.hp2 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0018 a0003c0003t0003g0049 a0001c0001t0001g0018 a0003c0003t0003g0049	2	89	0.0225	50	c.275 others(69): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTGTCTTGTCTTGTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGAGAA others(43): Show GAAGAGAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGACAAGA C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0175 a0006c0008t0009g0175	1	88	0.0114	50	c.275 others(69): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTGTCTTGTCTTGTCTTCTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCM9_chr6_118808455_118940159	118843642	A A	ATATATAT others(43): Show ATATATATATATATATATACACGTATATATATATATATATATATATACGT G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19088.hp1 NA18948.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0298 a0001c0001t0008g0170 a0001c0001t0001g0298 a0001c0001t0008g0170	2	338	0.0059	50	c.132 others(71): Show c.1325+12728_1325+12729insCACGTATATATATATATATATATA TATACGTGTATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(43): Show ATATATATATATATATATATACACGTATATATATATATATATATATACGT G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	172	0.0058	50	c.132 others(71): Show c.1325+12726_1325+12727insCACGTATATATATATATATATATA TACGTGTATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843644	A A	ATATATAT others(43): Show ATATATATATATATATATATATATACACGTATATATATATATATATACGT G	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA21309.hp2 HG02630.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0016 a0001c0001t0014g0097 a0001c0001t0002g0016 a0001c0001t0014g0097	2	173	0.0116	50	c.132 others(71): Show c.1325+12726_1325+12727insCACGTATATATATATATATATACG TGTATATATATATATATATATATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATACACAC others(43): Show ATACACACACGTATATATATATATATATATATACGTGTATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02922.hp1 others(2): Show HG02055.hp2 HG02647.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0102 a0001c0001t0002g0103 others(2): Show a0001c0001t0002g0057 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105	5	304	0.0164	50	c.132 others(71): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATATATATACGTGTGTGTA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCM9_chr6_118808455_118940159	118843654	A A	ATATATAC others(43): Show ATATATACACGTATATATATATATATATATATACGTGTATATATATATAT G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(6): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG02809.hp1 HG03453.hp1 HG03704.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0004c0006 a0004c0009 others(1): Show a0001c0001 a0004c0006 a0004c0009 a0014c0019	a0001c0001t0002 a0004c0006t0002 a0004c0009t0002 others(1): Show a0001c0001t0002 a0004c0006t0002 a0004c0009t0002 a0014c0019t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0004c0006t0002g0034 others(6): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0004c0006t0002g0034 a0004c0006t0002g0035 a0004c0006t0002g0036 a0004c0006t0002g0037 a0004c0009t0002g0031 a0004c0009t0002g0032 a0014c0019t0002g0042	9	308	0.0292	50	c.132 others(71): Show c.1325+12716_1325+12717insCATATATATATATACACGTATATA TATATATATATATATACGTGTATATA	MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	9/13			chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(43): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	65	0.0154	50	c.-41 others(61): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	65	0.0154	50	c.-41 others(61): Show c.-4194_-4193insAGAGAGAGAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18941.hp2 HG02129.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0011t0004 a0001c0001t0006 a0001c0011t0004	a0001c0001t0006g0234 a0001c0011t0004g0114 a0001c0001t0006g0234 a0001c0011t0004g0114	2	221	0.0090	50	c.42 others(61): Show c.4246_*4247insTATATATATATATATATATATATATATATACACA CACACACACACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar

Search by Variant

Search

Search Results