Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0340 a0001c0001t0073g0340	1	384	0.0026	18	c.122 others(35): Show c.1226-732_1226-731insGTGTGTGTATATATGTAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58852287	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0128 a0001c0001t0012g0128	1	384	0.0026	18	c.173 others(35): Show c.1737+323_1737+340dupAAAAAAAAAAAAAAAAAA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY3_chr10_15773174_15865507	15848633	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp2 HG02257.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0002g0091 a0001c0001t0001g0185 a0001c0001t0002g0091	2	242	0.0083	18	c.95- others(31): Show c.95-708_95-691dupTTTTTTTTTTTTTTTTTT	MINDY3	ENSG00000148481.14	transcript	ENST00000277632.8	protein_coding	1/14			chr10	TogoVar
MINK1_chr17_4828340_4903061	4849058	A A	ATGGCTGA others(11): Show ATGGCTGAGAGTGAGTCAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0044 a0005c0009t0044	a0005c0009t0044g0121 a0005c0009t0044g0121	1	360	0.0028	18	c.57+ others(35): Show c.57+15421_57+15438dupGCTGAGAGTGAGTCAGTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4853076	A A	ATGGGGGG others(11): Show ATGGGGGGAGTGTGGTTGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0055 a0003c0003t0003g0055	1	360	0.0028	18	c.57+ others(35): Show c.57+19443_57+19460dupGAGTGTGGTTGGTGGGGG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4853214	G G	GGAGTGTG others(11): Show GGAGTGTGGTTGGTGGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0041 a0001c0011t0041	a0001c0011t0041g0347 a0001c0011t0041g0347	1	360	0.0028	18	c.57+ others(35): Show c.57+19588_57+19589insGGAAGAGTGTGGTTGGTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4867074	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG00741.hp1 others(36): Show HG00544.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02717.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18940.hp1 NA18942.hp2 NA18950.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18989.hp2 NA18998.hp2 NA19011.hp2 NA19077.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0001c0017 others(4): Show a0001c0001 a0001c0005 a0001c0017 a0002c0002 a0002c0012 a0003c0003 a0010c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0018 a0001c0001t0046 a0001c0001t0055 a0001c0001t0056 a0001c0005t0022 a0001c0017t0002 a0002c0002t0001 a0002c0002t0015 a0002c0012t0001 a0003c0003t0010 a0010c0019t0001	a0001c0001t0002g0004 a0001c0001t0002g0154 a0001c0001t0002g0155 others(35): Show a0001c0001t0002g0004 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0222 a0001c0001t0002g0278 a0001c0001t0004g0181 a0001c0001t0009g0212 a0001c0001t0009g0215 a0001c0001t0018g0172 a0001c0001t0046g0197 a0001c0001t0055g0198 a0001c0001t0056g0256 a0001c0005t0022g0151 a0001c0017t0002g0192 a0002c0002t0001g0255 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0001g0285 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0311 a0002c0002t0015g0269 a0002c0002t0015g0280 a0002c0012t0001g0153 a0003c0003t0010g0065 a0010c0019t0001g0260	39	360	0.1083	18	c.58- others(35): Show c.58-11228_58-11211dupTAATAATAATAATAATAA	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4867104	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03540.hp1 NA19030.hp1 HG01168.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0009 a0001c0014t0009 a0001c0001t0009 a0001c0014t0009	a0001c0001t0009g0214 a0001c0001t0009g0219 a0001c0014t0009g0216 a0001c0001t0009g0214 a0001c0001t0009g0219 a0001c0014t0009g0216	3	360	0.0083	18	c.58- others(35): Show c.58-11211_58-11210insTAATAATAATAATAAAAA	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINPP1_chr10_87499893_87558461	87520057	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01168.hp2 others(30): Show HG00544.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02300.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA18946.hp1 NA18950.hp1 NA18955.hp1 NA18977.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19002.hp2 NA19054.hp1 NA19058.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0321	33	412	0.0801	18	c.934 others(33): Show c.934-974_934-957dupGTGTGTGTGTGTGTGTGT	MINPP1	ENSG00000107789.16	transcript	ENST00000371996.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MIOS_chr7_7561884_7613932	7597517	T T	TATATATA others(11): Show TATATATATATATAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 NA18906.hp2 others(6): Show HG02027.hp1 HG02129.hp2 NA18906.hp2 NA18971.hp2 NA18984.hp2 NA19010.hp1 NA19067.hp2 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0014g0020 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0014g0020 a0001c0001t0014g0109 a0001c0002t0001g0020 a0001c0002t0001g0069 a0001c0002t0001g0089 a0001c0002t0001g0118 a0001c0002t0004g0108	9	330	0.0273	18	c.240 others(37): Show c.2401+1056_2401+1057insATATATATATATAAAAAA	MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	11/12			chr7	TogoVar
MIOS_chr7_7561884_7613932	7597517	T T	TATATATA others(11): Show TATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18906.hp1 NA19000.hp2 others(1): Show HG01123.hp2 NA18906.hp1 NA19000.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0131 a0001c0001t0001g0193 a0001c0002t0001g0071 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0193 a0001c0002t0001g0071 a0001c0002t0001g0117	4	330	0.0121	18	c.240 others(37): Show c.2401+1056_2401+1057insATATATATATATATAAAA	MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	11/12			chr7	TogoVar
MIOX_chr22_50481859_50495648	50488770	G G	GTCCCTCC others(11): Show GTCCCTCCCATCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0100 a0001c0004t0019g0100	1	436	0.0023	18	c.409 others(33): Show c.409-253_409-252insATCCCTCCCATCCCTCCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIOX_chr22_50481859_50495648	50488770	G G	GTCCCTCC others(11): Show GTCCCTCCCGTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp2 others(8): Show HG00140.hp1 HG00642.hp1 HG00738.hp2 HG04115.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp1 NA18970.hp1 NA18983.hp1 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0008 a0001c0004t0004 a0001c0004t0008	a0001c0004t0004g0010 a0001c0004t0004g0021 a0001c0004t0004g0040 others(2): Show a0001c0004t0004g0010 a0001c0004t0004g0021 a0001c0004t0004g0040 a0001c0004t0004g0096 a0001c0004t0008g0021	11	436	0.0252	18	c.409 others(33): Show c.409-262_409-261insGTCCCTCCCATCCCTCCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIPEP_chr13_23725189_23894400	23831380	T T	TGGCGGGG others(11): Show TGGCGGGGGGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG03453.hp2 HG02615.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0224 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0224	3	306	0.0098	18	c.165 others(37): Show c.1653+4859_1653+4860insCCCCCCCCTCCCCCCGCC	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	14/18			chr13	TogoVar
MIPEP_chr13_23725189_23894400	23831383	C C	CGGGGGGA others(11): Show CGGGGGGAGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01256.hp1 others(15): Show HG00558.hp2 HG01069.hp1 HG01256.hp1 HG01975.hp1 HG02155.hp1 HG02165.hp2 HG02895.hp2 HG03195.hp2 HG03490.hp1 HG03704.hp1 HG04204.hp1 NA18941.hp1 NA18946.hp1 NA18952.hp1 NA18962.hp2 NA18983.hp2 NA19056.hp2 NA19064.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0008c0007t0001 a0001c0001t0001 a0001c0001t0002 a0008c0007t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 others(15): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0154 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0294 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0008c0007t0001g0030	18	306	0.0588	18	c.165 others(37): Show c.1653+4856_1653+4857insACCCCCCCCCCTCCCCCC	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	14/18			chr13	TogoVar
MIP_chr12_56444502_56459657	56449980	A A	ATCGTGCC others(11): Show ATCGTGCCTGTGAATTCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0046 a0001c0001t0024g0047 a0001c0001t0023g0046 a0001c0001t0024g0047	2	436	0.0046	18	c.12 others(29): Show c.1299_*1300insGTGAATTCACAGGCACGA	MIP	ENSG00000135517.9	transcript	ENST00000652304.1	protein_coding	4/4	1299		chr12	TogoVar
MISP3_chr19_14067786_14080062	14068469	G G	GAGGCAAA others(11): Show GAGGCAAAGGTTGCAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	378	0.0027	18	c.-48 others(29): Show c.-4841_-4840insAGGCAAAGGTTGCAGTGA	MISP3	ENSG00000141854.10	transcript	ENST00000587086.3	protein_coding		4316		chr19	TogoVar
MITD1_chr2_99164263_99186058	99166858	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02258.hp1 NA18747.hp1 HG01106.hp2 HG02258.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	3	414	0.0073	18	c.24 others(29): Show c.2499_*2516dupATATATATATATATATAT	MITD1	ENSG00000158411.11	transcript	ENST00000289359.6	protein_coding		2404		chr2	TogoVar
MKI67_chr10_128091659_128131423	128129525	C C	CTATATAT others(11): Show CTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG01978.hp2 others(6): Show HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02293.hp2 NA18961.hp2 NA18971.hp2 NA19006.hp2 NA20752.hp2	a0003 a0015 a0053 a0003 a0015 a0053	a0003c0001 a0015c0018 a0053c0095 a0003c0001 a0015c0018 a0053c0095	a0003c0001t0002 a0003c0001t0017 a0015c0018t0027 others(1): Show a0003c0001t0002 a0003c0001t0017 a0015c0018t0027 a0053c0095t0002	a0003c0001t0002g0003 a0003c0001t0002g0007 a0003c0001t0017g0030 others(2): Show a0003c0001t0002g0003 a0003c0001t0002g0007 a0003c0001t0017g0030 a0015c0018t0027g0057 a0053c0095t0002g0074	9	408	0.0221	18	c.-35 others(29): Show c.-3517_-3516insTATATATATATATATATA	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding		3103		chr10	TogoVar
MKKS_chr20_10396009_10439222	10427029	G G	GACACACA others(11): Show GACACACACACAGACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0022 a0002c0002t0010 a0002c0002t0022	a0002c0002t0010g0231 a0002c0002t0022g0275 a0002c0002t0010g0231 a0002c0002t0022g0275	2	390	0.0051	18	c.-64 others(37): Show c.-648-6272_-648-6271insGTGTGTCTGTGTGTGTGT	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding	1/5			chr20	TogoVar
MKLN1_chr7_131322876_131501632	131355628	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02040.hp2 NA18970.hp2 others(3): Show HG00639.hp1 HG02040.hp2 NA18970.hp2 NA19005.hp1 NA19009.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0058 a0001c0001t0003 a0001c0001t0006 a0001c0002t0058	a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0198 others(3): Show a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0006g0183 a0001c0002t0058g0080	6	320	0.0188	18	c.99- others(35): Show c.99-19792_99-19775dupATATATATATATATATAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131376132	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18945.hp1 NA18950.hp2 others(3): Show HG02523.hp2 NA18945.hp1 NA18950.hp2 NA18961.hp1 NA18997.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0225 a0001c0001t0005g0108	6	320	0.0188	18	c.168 others(33): Show c.168+642_168+643insATATATATATATATGTAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131411906	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG04184.hp1 NA18944.hp2 HG01934.hp2 HG04184.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0230 a0001c0001t0002g0285 a0001c0001t0002g0077 a0001c0001t0002g0230 a0001c0001t0002g0285	3	320	0.0094	18	c.781 others(33): Show c.781+537_781+554dupAAAAAAAAAAAAAAAAAA	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131499777	T T	TTGTTTTT others(11): Show TTGTTTTTACATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02135.hp1 HG03195.hp2 others(2): Show HG00597.hp1 HG02135.hp1 HG03195.hp2 HG03239.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0004g0027 a0001c0001t0009g0148	5	320	0.0156	18	c.12 others(31): Show c.12049_*12050insTGTTTTTACATATATATA	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding		3146		chr7	TogoVar
MKLN1_chr7_131322876_131501632	131499780	C C	CATATATA others(11): Show CATATATATATACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0112 a0001c0001t0065g0112	1	320	0.0031	18	c.12 others(31): Show c.12052_*12053insATATATATATACATATAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding		3149		chr7	TogoVar
MKLN1_chr7_131322876_131501632	131499780	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0313 a0001c0001t0015g0273 a0001c0001t0007g0313 a0001c0001t0015g0273	2	320	0.0063	18	c.12 others(31): Show c.12052_*12053insATATATATATATATATAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding		3149		chr7	TogoVar
MKLN1_chr7_131322876_131501632	131499820	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0274 a0001c0001t0015g0274	1	320	0.0031	18	c.12 others(31): Show c.12092_*12093insATATATATATATATATAC	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding		3189		chr7	TogoVar
MKNK1_chr1_46552407_46609268	46564044	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	346	0.0029	18	c.609 others(33): Show c.609+979_609+996dupTTTTTTTTTTTTTTTTTT	MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	9/12			chr1	TogoVar
MKRN1_chr7_140448033_140484505	140474005	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	434	0.0023	18	c.186 others(35): Show c.186-1995_186-1994insCTTTCTTTCTTTCTTTCT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar
MKRN2OS_chr3_12534776_12550499	12546575	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02145.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0093 a0001c0001t0004g0095	2	396	0.0051	18	c.-11 others(29): Show c.-1129_-1112dupAAAAAAAAAAAAAAAAAA	MKRN2OS	ENSG00000225526.6	transcript	ENST00000564146.4	protein_coding		1077		chr3	TogoVar
MKX_chr10_27667874_27750819	27711481	T T	TTCTTTTT others(11): Show TTCTTTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02647.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0228 a0001c0001t0006g0215 a0001c0001t0006g0228	2	354	0.0057	18	c.838 others(37): Show c.838+22974_838+22975insGAGAGAGAAAGAAAAAGA	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MLC1_chr22_50054391_50090426	50057540	G G	GAGGTCTG others(11): Show GAGGTCTGGGTTGGGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0189 a0001c0001t0021g0189	1	212	0.0047	18	c.40 others(29): Show c.4025_*4042dupGACCCCCAACCCAGACCT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1850		chr22	TogoVar
MLC1_chr22_50054391_50090426	50057622	T T	TGGGGTCA others(11): Show TGGGGTCAGGTCTGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	212	0.0047	18	c.39 others(29): Show c.3960_*3961insCAACCCAGACCTGACCCC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1768		chr22	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19081.hp2 HG01175.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0039 a0001c0001t0008g0029 a0001c0001t0001g0039 a0001c0001t0008g0029	2	212	0.0094	18	c.268 others(33): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLC1_chr22_50054391_50090426	50081021	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG02135.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0002g0123 a0001c0001t0002g0162	2	212	0.0094	18	c.268 others(33): Show c.268-642_268-625dupTTCTTTCTTTCTTTCTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLC1_chr22_50054391_50090426	50081049	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp1 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	212	0.0094	18	c.268 others(33): Show c.268-653_268-652insTTCTTTCTTTCTTTCTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLEC_chr12_120682149_120706859	120684028	A A	ATAAATAA others(11): Show ATAAATAAAGATTATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	408	0.0025	18	c.-32 others(29): Show c.-3269_-3268insTAAATAAAGATTATTTTT	MLEC	ENSG00000110917.8	transcript	ENST00000228506.8	protein_coding		3120		chr12	TogoVar
MLH3_chr14_75008775_75056467	75039846	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02015.hp1 NA19058.hp1 HG01081.hp2 HG02015.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0123	3	262	0.0115	18	c.357 others(33): Show c.3570+47_3570+64dupATATATATATATATATAT	MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	5/12			chr14	TogoVar
MLIP_chr6_54106443_54271280	54251441	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02258.hp1 others(5): Show HG01106.hp2 HG02055.hp2 HG02258.hp1 HG02630.hp1 HG02809.hp1 HG03453.hp1 NA18906.hp2 NA21309.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0014	a0002c0003 a0002c0018 a0004c0004 others(2): Show a0002c0003 a0002c0018 a0004c0004 a0006c0006 a0014c0014	a0002c0003t0001 a0002c0003t0002 a0002c0018t0002 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0018t0002 a0004c0004t0003 a0006c0006t0002 a0014c0014t0002	a0002c0003t0001g0123 a0002c0003t0002g0159 a0002c0003t0002g0160 others(5): Show a0002c0003t0001g0123 a0002c0003t0002g0159 a0002c0003t0002g0160 a0002c0018t0002g0140 a0004c0004t0003g0035 a0004c0004t0003g0154 a0006c0006t0002g0010 a0014c0014t0002g0101	8	248	0.0323	18	c.292 others(37): Show c.2923-5858_2923-5841dupATATATATATATATATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLLT10_chr10_21529232_21748630	21600368	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG02723.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0085 a0001c0003t0007g0026 a0001c0001t0007g0085 a0001c0003t0007g0026	2	192	0.0104	18	c.405 others(35): Show c.405+4946_405+4963dupCACACACACACACACACA	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT10_chr10_21529232_21748630	21717888	T T	TCTCCTCC others(11): Show TCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0181 a0001c0002t0008g0181	1	192	0.0052	18	c.187 others(37): Show c.1878+3944_1878+3961dupCCTCCTCCTCCTCCTCCT	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT11_chr1_151055397_151074544	151070178	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG04184.hp1 HG02698.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	372	0.0054	18	c.26 others(29): Show c.2681_*2682insAAAAAAAAAAAAAAAAAA	MLLT11	ENSG00000213190.4	transcript	ENST00000368921.5	protein_coding		635		chr1	TogoVar
MLPH_chr2_237482251_237560322	237485052	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0003 a0003c0052t0003	a0003c0052t0003g0112 a0003c0052t0003g0112	1	286	0.0035	18	c.-24 others(29): Show c.-2410_-2409insAAAAAAAAAAAAAAAAAA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding		2198		chr2	TogoVar
MLPH_chr2_237482251_237560322	237504418	A A	AGAGATTT others(11): Show AGAGATTTTTTGTATTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18990.hp1 NA19012.hp2 NA18947.hp1 NA18990.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0002g0052 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0002g0052	3	286	0.0105	18	c.111 others(35): Show c.111-6156_111-6155insGAGATTTTTTGTATTTTT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	2/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 NA21309.hp1 HG02647.hp2 HG03540.hp2 NA21309.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0003 a0013c0017t0010 a0013c0017t0003 a0013c0017t0010	a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0010g0253 a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0010g0253	3	286	0.0105	18	c.676 others(35): Show c.676-1297_676-1280dupTATATATATATATATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237542856	C C	CGGACAGT others(11): Show CGGACAGTGGTGAGTGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	286	0.0035	18	c.153 others(35): Show c.1539+199_1539+216dupGACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543046	G G	GCACGGTA others(11): Show GCACGGTAGTGACTGGGGC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	286	0.0035	18	c.153 others(35): Show c.1539+387_1539+388insCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543426	G G	GACAGTGG others(11): Show GACAGTGGTGAGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp2 HG00544.hp1 HG01074.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0004 a0002c0002t0002 a0004c0005t0004	a0002c0002t0002g0059 a0004c0005t0004g0220 a0002c0002t0002g0059 a0004c0005t0004g0220	2	286	0.0070	18	c.153 others(35): Show c.1539+783_1539+784insGCACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543526	T T	TGGGGGAC others(11): Show TGGGGGACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	286	0.0035	18	c.153 others(35): Show c.1539+872_1539+889dupGACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543543	T T	TGGGGGAC others(11): Show TGGGGGACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	286	0.0035	18	c.153 others(35): Show c.1539+887_1539+904dupGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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