Joint Open Genome and Omics Platform (JoGo)

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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
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(177): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	62	0.0161	184	c.-36 others(205): Show c.-36+105674_-36+105675insTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCTCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	858016	T T	TCGGGACG others(177): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCGTGGTGTCACGGGATGGGTGTGCGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	294	0.0034	184	c.153 others(203): Show c.1530-3311_1530-3310insTGACACCACGCACACCCATCCCGTGA CACCACGCACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(177): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCT CGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	294	0.0034	184	c.153 others(203): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACTGCACACCC ATCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(177): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTG TCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCT CGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0268 a0001c0021t0001g0268	1	294	0.0034	184	c.153 others(203): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACTGCACACCC ATCCCGTGACACCACGCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858052	G G	GAGTGGTG others(177): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0075 a0001c0004t0001g0075	1	294	0.0034	184	c.153 others(203): Show c.1530-3347_1530-3346insACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCC ATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858077	A A	AGTGGTGT others(177): Show AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCGTGGTGTCTCG GGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	294	0.0034	184	c.153 others(203): Show c.1530-3372_1530-3371insGCACACCCATCCCGAGACACCACGCA CACCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACACC CATCCCGAGACACCACTCACACCCATCCCGTGACACCACGCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858224	A A	ACGGGATG others(177): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	294	0.0034	184	c.153 others(203): Show c.1530-3519_1530-3518insAGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTC ACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACAC CCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858261	C C	CGTGGTGT others(177): Show CGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	294	0.0034	184	c.153 others(203): Show c.1530-3556_1530-3555insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858285	C C	CAGTGGTG others(177): Show CAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0025 a0025	a0025c0063 a0025c0063	a0025c0063t0002 a0025c0063t0002	a0025c0063t0002g0199 a0025c0063t0002g0199	1	294	0.0034	184	c.153 others(203): Show c.1530-3580_1530-3579insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTG ACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859577	C C	CAGTGGTG others(177): Show CAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGT GGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTG TCACGGGAGGTGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0019 a0019	a0019c0070 a0019c0070	a0019c0070t0001 a0019c0070t0001	a0019c0070t0001g0140 a0019c0070t0001g0140	1	294	0.0034	184	c.153 others(203): Show c.1530-4872_1530-4871insCGCACCCGTCCCGAGACACCACTCGC ACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACAC CTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCC CGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTG ACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	961226	C C	CACAGACT others(177): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp1 HG06807.hp2 HG03453.hp2 HG03516.hp1 HG06807.hp2	a0010 a0011 a0010 a0011	a0010c0023 a0011c0039 a0011c0040 a0010c0023 a0011c0039 a0011c0040	a0010c0023t0001 a0011c0039t0001 a0011c0040t0002 a0010c0023t0001 a0011c0039t0001 a0011c0040t0002	a0010c0023t0001g0117 a0011c0039t0001g0245 a0011c0040t0002g0264 a0010c0023t0001g0117 a0011c0039t0001g0245 a0011c0040t0002g0264	3	294	0.0102	184	c.194 others(201): Show c.194-6561_194-6560insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGA GTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CAGTGCCC others(177): Show CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0302 a0001c0013t0001g0302	1	414	0.0024	184	c.171 others(201): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACTGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACT	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMX1B_chr9_126608928_126706032	126660227	C C	CTTCAGAG others(177): Show CTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGGCCTTAGAGATTGT CTTGTGTGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGGGGGGT ATCTACACTGGCTTCAGAGGTTGTCCTGTGGGGGGGTATCTACACTGGCT TCAGAGGTTGTCCTGTGGGGGGGTATCTACACTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 HG02109.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0077 a0001c0003t0058 a0001c0003t0077	a0001c0003t0058g0132 a0001c0003t0077g0130 a0001c0003t0058g0132 a0001c0003t0077g0130	2	342	0.0059	184	c.327 others(203): Show c.327-30609_327-30608insTTCAGAGGTTGTCCTGTGTGGGGGTG TCTACACTGGCCTTAGAGATTGTCTTGTGTGGGGGTATCTACACTGGCTT CAGAGGTTGTCCTGTGGGGGGGTATCTACACTGGCTTCAGAGGTTGTCCT GTGGGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGGGGGGTATC TACACTGG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7			chr9	TogoVar
LOC127933115_chrX_23778278_23788367	23780122	C C	CACACATA others(177): Show CACACATATATATGTGTATATATATACGTATATATATATACGTATATATA CACACATATATATGTGTATATATATACGTATATATACACATATATATGTG TATATATATACGTATATATACACATATATATGTGTATATATACGTATATA TATACACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02886.hp2 HG02257.hp1 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	334	0.0090	184	c.-31 others(195): Show c.-3156_-3155insACACATATATATGTGTATATATATACGTATATAT ATATACGTATATATACACACATATATATGTGTATATATATACGTATATAT ACACATATATATGTGTATATATATACGTATATATACACATATATATGTGT ATATATACGTATATATATACACATATATATGTGTATATATACGTATATAT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		3155		chrX	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(177): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATATTTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01074.hp2 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0222 a0002c0002t0002g0223	2	316	0.0063	184	c.622 others(199): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATATTTATATATAATAT ATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GGGAACAG others(177): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAA CAGCGACACGGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	350	0.0029	184	c.20 others(195): Show c.2075_*2076insTCCCTCCCGTGTCGCTGTTCCCCCCCGTGTCGCT GTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24774785	T T	TATTCTAT others(177): Show TATTCTATATATATGTAGAATATATATAAAGAATATATATAGAATATATT CTATATATATGTAGAATATATATAAAGAATATATATAGAATATATTCTAT ATATATGTAGAATATATATAAAGAATATATATAGAATATATTCTATATAT ATGTAGAATATATATAAAGAATATATATAGAATAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	116	0.0086	184	c.396 others(203): Show c.396+11522_396+11523insTATTCTATATATATGTAGAATATATA TAAAGAATATATATAGAATATATTCTATATATATGTAGAATATATATAAA GAATATATATAGAATATATTCTATATATATGTAGAATATATATAAAGAAT ATATATAGAATACATTCTATATATATGTAGAATATATATAAAGAATATAT ATAGAATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(177): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0078 a0008c0010t0009g0078	1	436	0.0023	184	c.40 others(195): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAG AAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MACROD2_chr20_13990516_16058197	14862396	T T	TATATATA others(177): Show TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATAAATAAATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 NA19030.hp1 HG02976.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0012g0020 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0012g0020	3	24	0.1250	184	c.418 others(205): Show c.418+177446_418+177447insAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATAAATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(177): Show TTCTAGGAGCCATATTCAGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCAGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCTGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	264	0.0038	184	c.986 others(201): Show c.986+2806_986+2807insGAGTCCACGGGAATGCAGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCTGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCTGAATATGGCT CCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(177): Show TTCTAGGAGCCATATTCAGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0110 a0002c0004t0001g0110	1	264	0.0038	184	c.986 others(201): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCTGAATATGGCT CCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(177): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGA GCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCG TATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03540.hp1 HG02738.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0255 a0001c0001t0001g0109 a0001c0001t0001g0255	2	264	0.0076	184	c.986 others(201): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATAC GGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCT CCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210468	G G	GGGACCGC others(177): Show GGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGA CCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGC CTGCATTCCCGTGGACTCTCTAGGAGCCATATTCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	264	0.0038	184	c.986 others(201): Show c.986+2743_986+2744insTGAATATGGCTCCTAGAGAGTCCACGGG AATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGG CTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGG CGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210514	G G	GGGACCGC others(177): Show GGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCATATTCGGGA CCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCAGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCATATTCGGGACCGCCAGC CTGCATTCCCGTGGACTCTCTAGGAGCCATATTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	264	0.0038	184	c.986 others(201): Show c.986+2697_986+2698insTGAATATGGCTCCTAGAGAGTCCACGGG AATGCAGGCTGGCGGTCCCGAATATGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCTGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGG CTGGCGGTCCCGAATATGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGG CGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210514	G G	GGGACCGC others(177): Show GGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGA CCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCATATTCGGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGC CCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	264	0.0038	184	c.986 others(201): Show c.986+2697_986+2698insTGAATACGGCTCCTAGAGAGTCCACGGG AATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCCGAATATGGCTCCTAGAGAGTCCACGGGAATGCGGG CTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGG CGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210527	C C	CGCATTCC others(177): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCA TTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCC CGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTG GACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0067 a0003c0015t0001g0067	1	264	0.0038	184	c.986 others(201): Show c.986+2684_986+2685insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGG GAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210573	C C	CGCATTCC others(177): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCA TTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCC CGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTG GACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG03041.hp2 others(2): Show HG02615.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(2): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150	5	264	0.0189	184	c.986 others(201): Show c.986+2638_986+2639insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGA GTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCC ACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGG GAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(177): Show TCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCACGGCCC CACACTCTAGACTCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0379 a0001c0002t0001g0379	1	388	0.0026	184	c.456 others(201): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCACGGCCCCACACTCTAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(177): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	184	c.-11 others(195): Show c.-1171_-1170insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(177): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	1	456	0.0022	184	c.-11 others(195): Show c.-1171_-1170insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(177): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	184	c.-11 others(195): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(177): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	184	c.-11 others(195): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416418	A A	AATATATA others(177): Show AATATATATTAATTATATATTATTTATATATCAATTATATATTAATTATA TATAATTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTA CAGTTAATATATATTAATATATAACTATATATTAATTATATATATTAATA TATATAATATATATTAATTATATATATTAATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01070.hp1 others(56): Show HG00423.hp2 HG00621.hp1 HG01070.hp1 HG01123.hp1 HG01243.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp1 HG02293.hp2 HG03239.hp1 HG03654.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0004c0007t0003	a0001c0001t0002g0072 a0001c0001t0003g0055 a0001c0001t0003g0059 others(56): Show a0001c0001t0002g0072 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0005g0064 a0001c0001t0005g0083 a0001c0001t0005g0088 a0001c0001t0005g0098 a0001c0001t0005g0105 a0001c0001t0012g0073 a0004c0007t0003g0108	59	236	0.2500	184	c.316 others(203): Show c.316+25071_316+25072insATATATTAATTATATATTATTTATAT ATCAATTATATATTAATTATATATAATTAATTTTATATATTAATTCTATA TAGTTAATTATATATTAATTACAGTTAATATATATTAATATATAACTATA TATTAATTATATATATTAATATATATAATATATATTAATTATATATATTA ATATATAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477886	A A	AGGGGGGA others(177): Show AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGGGAGGGGGGGAGAGGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	163	0.0061	184	c.525 others(201): Show c.525+8595_525+8596insCCCCCTCCCCCCCTCTCCCCCCCTCCCC CCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCC CCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPK11_chr22_50258713_50275380	50274790	C C	CCCCCAGC others(177): Show CCCCCAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTATCCCTCCCAGCCCCCT CCACCTCCCAGCACCACCCCCAGCCCCCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG01099.hp2 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0043 a0002c0004t0001g0131 a0001c0001t0001g0043 a0002c0004t0001g0131	2	428	0.0047	184	c.-44 others(195): Show c.-4499_-4498insAGGTGGAGGGGGCTGGGGGTGGTGCTGGGAGGTG GAGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTG CTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4411		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAGC others(177): Show CTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCT CCCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCC CCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTCCCCCAGCA TCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 NA18947.hp1 HG02293.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0004 a0001c0001t0002g0036	2	428	0.0047	184	c.-45 others(195): Show c.-4574_-4573insAGGGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGG ATGCTGGGGGAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGG GGGCTGGGGGTGGTGCTGGGAGGTGGAGGGGGCTGGGAGGGATACTGGGG GAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGCTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBD3L3_chr19_7051207_7063676	7061742	A A	AATTATAT others(177): Show AATTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATTATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	184	c.-31 others(195): Show c.-3138_-3137insATATATTATATAATTATATTATATATAAATTATA TATTATATAATTATATTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATAATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3067		chr19	TogoVar
MBOAT1_chr6_20094684_20217469	20111847	C C	CGTATATA others(177): Show CGTATATATATACGTATATATACGTATATATATACGTATATATACGTATA TATATACGTATATATACGTATATATACGTATATATACGTATATATACGTA TATATACGTATATATACGTATATATATACGTATATATACGTATATATATA CGTATATATACGTATATATATACGTATATATACAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0280 a0001c0001t0050g0280	1	336	0.0030	184	c.120 others(203): Show c.1209+1028_1209+1029insATGTATATATACGTATATATATACGT ATATATACGTATATATATACGTATATATACGTATATATATACGTATATAT ACGTATATATACGTATATATACGTATATATACGTATATATACGTATATAT ACGTATATATATACGTATATATACGTATATATATACGTATATATACGTAT ATATATAC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MCOLN2_chr1_84920583_85002113	84987504	A A	ATATATAT others(177): Show ATATATATACATATATACATATATGTATATATAGATATATATACATATAT ACATATATGTATATATAGATATATATACATATATACATATATGTATATAT AGATATATATACATATATACATATATGTATATATAGATATATATACATAT ATACATATATGTATATACCTATATACATATATAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	350	0.0029	184	c.77+ others(199): Show c.77+9291_77+9292insCCTATATATGTATATAGGTATATACATATA TGTATATATGTATATATATCTATATATACATATATGTATATATGTATATA TATCTATATATACATATATGTATATATGTATATATATCTATATATACATA TATGTATATATGTATATATATCTATATATACATATATGTATATATGTATA TATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATATA others(177): Show AATATATATATTTATATAATTATATATTTATATAAATATATATATTTATA TAAATATAAAAATATATTTATATAAATATATATATTTATATAAATATAAA AATATATTTATATAAATATATATATTTATATAAATATAAAAATATATTTA TATAAATATATATATTTATATAAATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	388	0.0026	184	c.685 others(201): Show c.685-2544_685-2543insTATATTTATATAATTATATATTTATATA AATATATATATTTATATAAATATAAAAATATATTTATATAAATATATATA TTTATATAAATATAAAAATATATTTATATAAATATATATATTTATATAAA TATAAAAATATATTTATATAAATATATATATTTATATAAATATATATATT TATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLPH_chr2_237482251_237560322	237543940	G G	GGGGGATG others(177): Show GGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAG TTGGGGGGACAGTGGTGAGTGGGGGTACAGTGAGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0023 a0023	a0023c0049 a0023c0049	a0023c0049t0005 a0023c0049t0005	a0023c0049t0005g0036 a0023c0049t0005g0036	1	286	0.0035	184	c.153 others(203): Show c.1539+1286_1539+1287insTGGTGAGTGGGCACGGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAG TGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGTG TGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGTACAGTG AGTGGGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544562	G G	GGACAGTG others(177): Show GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTGGTGAGTGGGGCGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0182 a0004c0005t0002g0182	1	286	0.0035	184	c.153 others(203): Show c.1539+1904_1539+1905insACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAGT GGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOBP_chr3_39462680_39508027	39469180	G G	GTGTGTGT others(177): Show GTGTGTGTGTATATATACATATATACATGTGTGTGTGTATATATACATAT ATACATGTGTGTGTGTATATATACATATATACGTGTGTGTGTATATATAC ATATATACGTGTGTGTGTATATATACATATATACGTGTGTGTGTATATAT ACATATATACGTGTGTGTGTATATACATATATACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	400	0.0025	184	c.-89 others(201): Show c.-89+1449_-89+1450insATATATACATATATACATGTGTGTGTGT ATATATACATATATACATGTGTGTGTGTATATATACATATATACGTGTGT GTGTATATATACATATATACGTGTGTGTGTATATATACATATATACGTGT GTGTGTATATATACATATATACGTGTGTGTGTATATACATATATACATGT GTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MOCS1_chr6_39899170_39939462	39905999	A A	AATGAGAA others(177): Show AATGAGAAGGAAAAGTTCTGGGCTGGACTGTCGGAACCTGGTTGTCTGAA ATAGTCCACAAAGAACATGATTTCTCAGTTATCTGGCATTGCTATGAGAA GGAAAAGTTCTGGGCTGGACTGTCGGAACCTGGTTGTCTGAAATAGTCCA CAAAGAACATGATTTCTCAGTTATCTGGCATTGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18944.hp1 NA18945.hp1 others(3): Show NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18966.hp2 NA18981.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0007 a0003c0003t0007g0010 a0003c0003t0007g0011 others(3): Show a0003c0003t0007g0007 a0003c0003t0007g0010 a0003c0003t0007g0011 a0003c0003t0007g0012 a0003c0003t0007g0014 a0003c0003t0007g0015	6	272	0.0221	184	c.35 others(193): Show c.357_*358insAGCAATGCCAGATAACTGAGAAATCATGTTCTTTGT GGACTATTTCAGACAACCAGGTTCCGACAGTCCAGCCCAGAACTTTTCCT TCTCATAGCAATGCCAGATAACTGAGAAATCATGTTCTTTGTGGACTATT TCAGACAACCAGGTTCCGACAGTCCAGCCCAGAACTTTTCCTTCTCAT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	11/11	357		chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(177): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	250	0.0040	184	c.225 others(201): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499933	T T	TGGTGATG others(177): Show TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGGTGATGGTGGTGATGGTGATGGAGGTG GCAGTGATGATGGTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	250	0.0040	184	c.748 others(201): Show c.748+1585_748+1586insTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGG TGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGGTGATGGT GGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGG TGGCGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(177): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCA CCCACCCACCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCATCCATCCACCCACCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	184	c.30 others(195): Show c.3029_*3030insATGGATGGGTGGGTGGGTGGGTGGATGGATGGGT GGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(177): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCACCCACCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACC CACCCATCCATCCACCCACCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	184	c.30 others(195): Show c.3029_*3030insATGGATGGGTGGGTGGGTGGGTGGATGGATGGGT GGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGGGTGG GTGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(177): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCACCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACC CATCCATCCACCCACCCACCCACCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01433.hp2 others(4): Show HG00323.hp2 HG01081.hp2 HG01433.hp2 NA18967.hp1 NA18980.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	426	0.0164	184	c.30 others(195): Show c.3029_*3030insATGGATGGATGGGTGGGTGGGTGGGTGGATGGAT GGGTGGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGGTGG GTGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGT GGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(177): Show TGTATATATATATATGTATATATATATGTATATATATGTGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATGTATATATATGTGTATATATATGTATATATATATATGTATA TATATGTATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	410	0.0024	184	c.484 others(199): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACACATATATATACATATATATATACATATATATAT ATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar

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