Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
MAP3K2_chr2_127293668_127392975	127326287	T T	TGAAAACA others(44): Show TGAAAACATTTTAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp1 HG02145.hp1 others(13): Show HG01069.hp1 HG01169.hp1 HG02145.hp1 HG02165.hp2 HG02572.hp1 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03486.hp1 NA18945.hp2 NA18985.hp1 NA18987.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 a0001c0001t0071 a0001c0002t0008	a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0215 others(13): Show a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0015g0311 a0001c0001t0024g0301 a0001c0001t0071g0201 a0001c0002t0008g0172	16	320	0.0500	51	c.597 others(66): Show c.597+399_597+400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTAAAATGTTTTC	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	8/16			chr2	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01978.hp2 HG00642.hp1 HG01069.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0144 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0144	3	386	0.0078	51	c.-16 others(62): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18984.hp2 NA19087.hp1 HG01257.hp2 NA18984.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0034 a0001c0002t0001g0007 a0001c0002t0001g0034	3	386	0.0078	51	c.-16 others(62): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125623805	T T	TGGGGGGG others(44): Show TGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	300	0.0033	51	c.498 others(70): Show c.498+33845_498+33846insCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGGCTGACCCCCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125623816	G G	GCCCCCCG others(44): Show GCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	300	0.0033	51	c.498 others(70): Show c.498+33834_498+33835insGCTGACCCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCAGGCGGGGGG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125624547	G G	GTCCGGGA others(44): Show GTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCC CA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18956.hp1 HG02055.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0155 a0001c0002t0001g0203 a0001c0001t0001g0155 a0001c0002t0001g0203	2	300	0.0067	51	c.498 others(70): Show c.498+33103_498+33104insTGGGGCGGCTGGCCGGGCGGGGGGGC CGACCCCCCCCACCTCCCTCCCGGA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(44): Show GCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	288	0.0035	51	c.500 others(68): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBD3L4_chr19_7032749_7045179	7035069	T T	TAATTTAT others(44): Show TAATTTATATGTTATATAATTATATTATATATATAATATAATTTATATGT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	262	0.0038	51	c.27 others(62): Show c.2791_*2792insTAACATATAAATTATATTATATATATAATATAAT TATATAACATATAAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2679		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035069	T T	TAATTTAT others(44): Show TAATTTATATGTTATATAATTATATTATATATATAATATAATTTATATGT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	249	0.0040	51	c.21 others(62): Show c.2175_*2176insAATTTATATGTTATATAATTATATTATATATATA ATATAATTTATATGTTA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2059		chr19	TogoVar
MBNL2_chr13_97217333_97399120	97378122	A A	ATGAAAAT others(44): Show ATGAAAATAATTGAAATATTACTATATAATATTACTTAATTGAAACATTA CT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(8): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp2 NA18948.hp2 NA18951.hp2 NA18967.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 a0002c0004t0001	a0001c0001t0017g0177 a0001c0002t0001g0008 a0001c0002t0001g0156 others(8): Show a0001c0001t0017g0177 a0001c0002t0001g0008 a0001c0002t0001g0156 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0006g0126 a0001c0002t0006g0197 a0001c0002t0006g0212 a0001c0002t0006g0248 a0002c0004t0001g0232	11	254	0.0433	51	c.104 others(72): Show c.1048+12968_1048+13018dupATTACTATATAATATTACTTAATT GAAACATTACTTGAAAATAATTGAAAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	51	c.-25 others(62): Show c.-2544_-2543insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	51	c.-25 others(62): Show c.-2544_-2543insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCF2L_chr13_112964214_113104742	112980628	G G	GCCGCCTT others(44): Show GCCGCCTTCCCCTTTCCCCCGCCTTCCCCTTTCCCCCGCCTTCCCCTTTC CC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02300.hp2 HG01069.hp1 HG01071.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0002t0003g0023 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0002t0003g0023	3	116	0.0259	51	c.79+ others(68): Show c.79+11211_79+11212insCCCCTTTCCCCCGCCTTCCCCTTTCCCC CGCCTTCCCCTTTCCCCCGCCTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113025419	G G	GGGTCCCT others(44): Show GGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCTGT CA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0011 a0001c0004t0005g0012	2	116	0.0172	51	c.278 others(66): Show c.278+661_278+662insGGTCCCTGCAACTATGGGATGAGGCAGAGT CCCTGTGAGATTTCCCTGTCA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCGCTCT others(44): Show CTCGCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	402	0.0025	51	c.-14 others(62): Show c.-1434_-1433insAGAGAGAGCGAGAGAGAGAGAGCGAGAGAGAGAG AGCGAGAGAGAGAGCGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGA AG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	272	0.0037	51	c.102 others(68): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
MED16_chr19_862963_898187	866668	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG03688.hp1 HG01978.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0023 a0001c0002t0002g0021 a0001c0002t0001g0023 a0001c0002t0002g0021	2	56	0.0357	51	c.14 others(62): Show c.1432_*1433insTGAGGGGTGCGGGCCTGCGGTGGGCGGACAGGGA GGAGATGGGAGCGCTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1294		chr19	TogoVar
MED16_chr19_862963_898187	871834	A A	AGAGGGGA others(44): Show AGAGGGGAGAGCGGGGAGCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGCG GG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18971.hp2 HG03239.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0029 a0001c0002t0002g0020 a0001c0002t0001g0029 a0001c0002t0002g0020	2	56	0.0357	51	c.209 others(66): Show c.2098+91_2098+92insCCCGCTCCCCGCTCTCCCCTCTCCCCGCTC CCCGCTCCCCGCTCTCCCCTC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MEGF11_chr15_65890299_66258750	65965601	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0155 a0003c0003t0016g0155	1	176	0.0057	51	c.900 others(66): Show c.900-482_900-481insGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG AAGAAAGAAAGAAAGAAAGAA	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	8/25			chr15	TogoVar
METRNL_chr17_83074609_83100122	83090345	C C	CCCCCACA others(44): Show CCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACA CA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18994.hp1 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0280 a0001c0003t0002g0167 a0001c0003t0002g0280	2	399	0.0050	51	c.557 others(68): Show c.557-2821_557-2820insCCCACACACACACCCCCCGCCCCACACA CACACACCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090408	C C	CCCCCGCC others(44): Show CCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCCGCCCCAGGGTGGG AG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG03098.hp2 others(2): Show HG02647.hp1 HG02717.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0154 a0001c0001t0001g0207 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0229 a0001c0002t0001g0244	5	399	0.0125	51	c.557 others(68): Show c.557-2757_557-2756insCCGCCCCAGGGTGGGAACCACACACCCC CGCCCCGCCCCAGGGTGGGAGCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090498	A A	ACACACAC others(44): Show ACACACACCCCCCGCCCCACACACCCCCCACCCCCCGCCCCAGGGTGGGA GC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	399	0.0025	51	c.557 others(68): Show c.557-2662_557-2661insCCCCCGCCCCACACACCCCCCACCCCCC GCCCCAGGGTGGGAGCCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0327 a0016c0026t0001g0327	1	329	0.0030	51	c.-1+ others(66): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114215	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0027 a0027	a0027c0073 a0027c0073	a0027c0073t0001 a0027c0073t0001	a0027c0073t0001g0031 a0027c0073t0001g0031	1	329	0.0030	51	c.-1+ others(66): Show c.-1+2408_-1+2409insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGG	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47			chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114223	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0314 a0007c0008t0001g0314	1	329	0.0030	51	c.-1+ others(66): Show c.-1+2417_-1+2418insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTT others(44): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0002 a0022c0036t0002	a0022c0036t0002g0092 a0022c0036t0002g0092	1	292	0.0034	51	c.789 others(68): Show c.7891+129_7891+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIER2_chr19_300573_349796	302684	A A	ACTCATTA others(44): Show ACTCATTACACCAAAGCACATACTCATCAGACTCAATACACTAAAGCACA GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp1 others(23): Show HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0011 a0001c0001 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0010t0001 a0001c0011t0002 a0001c0001t0001 a0001c0010t0001 a0001c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0106 a0001c0001t0001g0107 others(21): Show a0001c0001t0001g0024 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0010t0001g0016 a0001c0011t0002g0249 a0001c0011t0002g0266	26	384	0.0677	51	c.40 others(62): Show c.4005_*4006insGCTGTGCTTTAGTGTATTGAGTCTGATGAGTATG TGCTTTGGTGTAATGAG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		2888		chr19	TogoVar
MIGA1_chr1_77774649_77884540	77871125	G G	GGGAGACG others(44): Show GGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0264 a0001c0001t0007g0264	1	280	0.0036	51	c.146 others(70): Show c.1468-1878_1468-1877insGAGACGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAG	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINAR1_chr15_79427336_79477304	79439306	G G	GGTGGGTA others(44): Show GGTGGGTAGTGATGAGATGTGGGTGGGGTAGGCAGTGTGTGTGTGGGTGT GT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp2 NA18906.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0028 a0001c0002 a0004c0028	a0001c0002t0021 a0004c0028t0015 a0001c0002t0021 a0004c0028t0015	a0001c0002t0021g0050 a0004c0028t0015g0051 a0001c0002t0021g0050 a0004c0028t0015g0051	2	390	0.0051	51	c.-51 others(68): Show c.-51+6813_-51+6814insGTGTGTGGGTAGTGATGAGATGTGGGTG GGGTAGGCAGTGTGTGTGTGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIX23_chr3_122354591_122388231	122382073	T T	TAAAATGG others(44): Show TAAAATGGGATTCTAGGAATCTAATAAAAATTCTTGAATGCAATGCTAAA AA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	420	0.0024	51	c.51+ others(66): Show c.51+1100_51+1101insTTTTTAGCATTGCATTCAAGAATTTTTATT AGATTCCTAGAATCCCATTTT	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding	1/4			chr3	TogoVar
MLPH_chr2_237482251_237560322	237543178	T T	TGGGGACA others(44): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	286	0.0035	51	c.153 others(68): Show c.1539+523_1539+524insACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543265	T T	TGGGGACA others(44): Show TGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAG TA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG06807.hp1 HG02559.hp1 HG02809.hp1 HG06807.hp1	a0004 a0009 a0004 a0009	a0004c0005 a0009c0011 a0004c0005 a0009c0011	a0004c0005t0001 a0009c0011t0015 a0004c0005t0001 a0009c0011t0015	a0004c0005t0001g0130 a0004c0005t0001g0137 a0009c0011t0015g0254 a0004c0005t0001g0130 a0004c0005t0001g0137 a0009c0011t0015g0254	3	286	0.0105	51	c.153 others(68): Show c.1539+610_1539+611insACATTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACAGTAGTGAGTAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543300	G G	GGGCACGG others(44): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	286	0.0035	51	c.153 others(68): Show c.1539+643_1539+644insCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543543	T T	TGGGCACG others(44): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTGGTGAG TG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02970.hp1 others(1): Show HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0002 a0002c0008t0002 a0002c0008t0003 a0003c0003t0002	a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0002g0110 others(1): Show a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0002g0110 a0003c0003t0002g0257	4	286	0.0140	51	c.153 others(68): Show c.1539+887_1539+888insCACGGTAGTGAGTGGGGGGACAGTGGTG AATGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543596	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTG GA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	286	0.0035	51	c.153 others(68): Show c.1539+938_1539+939insGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGCACGGTGGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543613	G G	GGGGACAG others(44): Show GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	51	c.153 others(68): Show c.1539+957_1539+958insACAGTGGTGAGTTGGGGGACAGTGGTGA GTTGGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543663	G G	GGGGACAG others(44): Show GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	286	0.0035	51	c.153 others(70): Show c.1539+1007_1539+1008insACAGTGGTGAGTTGGGGGACAGTGGT GAGTGGGGGAACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543664	G G	GAGGGGAC others(44): Show GAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	286	0.0035	51	c.153 others(70): Show c.1539+1005_1539+1006insAGGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543776	G G	GTGGCAAG others(44): Show GTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC AT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0283 a0004c0005t0002g0283	1	286	0.0035	51	c.153 others(70): Show c.1539+1120_1539+1121insCAAGTGGGCACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACATTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543821	G G	GGACAGTG others(44): Show GGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTG GA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	286	0.0035	51	c.153 others(70): Show c.1539+1163_1539+1164insACAGTGGCAAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543892	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGG GC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0015 a0009c0011t0015	a0009c0011t0015g0254 a0009c0011t0015g0254	1	286	0.0035	51	c.153 others(70): Show c.1539+1233_1539+1234insGGACAGTGGTGAGGGGACAGTAGTGA GTAGGGGACAGTGGTGAGTTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544525	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	51	c.153 others(70): Show c.1539+1868_1539+1869insACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544867	G G	GGTGAGTG others(44): Show GGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGTA CA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0280 a0001c0015t0001g0280	1	286	0.0035	51	c.154 others(70): Show c.1540-1729_1540-1728insGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGTACAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545052	G G	GGTGAGTT others(44): Show GGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACA GT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 NA19240.hp1 HG02572.hp1 HG02818.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0018g0097 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0018g0097	3	286	0.0105	51	c.154 others(70): Show c.1540-1553_1540-1552insTGAGTTGGGGGACAGTGGTGAATGGG CACGGTAGTGAGTGGGGGGACAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589194	T T	TATAAATA others(44): Show TATAAATATAAAATACATTTATATTTATTAATATAAAAATAAAATATATT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02273.hp1 HG02148.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	276	0.0073	51	c.46 others(62): Show c.4670_*4671insTAAATATATTTTATTTTTATATTAATAAATATAA ATGTATTTTATATTTAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4007		chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0266 a0001c0001t0005g0288 a0001c0001t0005g0266 a0001c0001t0005g0288	2	382	0.0052	51	c.47+ others(68): Show c.47+13735_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0344 a0001c0002t0014g0344	1	382	0.0026	51	c.47+ others(68): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAGAAGAAGAAGAAA AAGAAGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMS22L_chr6_97137161_97288216	97225586	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0114 a0001c0001t0047g0114	1	292	0.0034	51	c.203 others(70): Show c.2039+3307_2039+3308insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	14/24			chr6	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	414	0.0024	51	c.226 others(68): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MON1A_chr3_49903873_49934811	49911209	G G	GATAGATA others(44): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGAT AC	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19082.hp2 HG00140.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0149 a0001c0002t0001g0139 a0001c0002t0001g0149	2	262	0.0076	51	c.613 others(66): Show c.613+316_613+317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar

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