Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(293): Show GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGA A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0271 a0001c0001t0013g0271	1	282	0.0036	300	c.290 others(319): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(293): Show AATATATATATCATATATATATGAAATATATATATCATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATCATATATATATGAAATATATATATGATATATGAAATATATATA TGATATATGAAATATATATATGATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	344	0.0029	300	c.25- others(315): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATCATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATCATATATATATGAAATATATATATGATATATG AAATATATATATGATATATGAAATATATATATGATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGATATATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(293): Show AATATATATATCATATATATATGAAATATATATATCATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATGATATATGAAATATATATATGATATATGAAATATATATATGAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19066.hp2 NA18984.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0233 a0002c0002t0001g0183 a0002c0002t0001g0233	2	344	0.0058	300	c.25- others(315): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATCATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATGATATATGAAATATATATATGATATATGAAAT ATATATATGATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGATATATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79807785	G G	GCGCTGAC others(293): Show GCGCTGACCACACTCCACGTTACAGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	312	0.0032	300	c.-11 others(319): Show c.-115+9792_-115+9793insCAGGCCCAGAGTCCGCGCTCTGAGGA GCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTC GCCCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCC CAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCAC GTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGAC CACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGG CCTCGCTGACCACACTCCACGTTA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808365	T T	TCTGAGGA others(293): Show TCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTACGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTATGGGCCCAGAGTCTGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGC C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	300	c.-11 others(321): Show c.-115+10356_-115+10357insGAGCTGCCGGGGCCTCGCTGACCA CACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCTGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCTCGCCCTGAG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808665	T T	TCTGAGGA others(293): Show TCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGC C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	312	0.0032	300	c.-11 others(321): Show c.-115+10656_-115+10657insGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCTCGCCCTGAG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(293): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0260 a0001c0001t0007g0260	1	334	0.0030	300	c.53- others(317): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAGATCTCTCTGG		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(293): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp1 HG02486.hp1 others(20): Show HG01081.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0060 a0001c0001t0071 a0001c0002t0003 a0001c0002t0012 a0001c0002t0017 a0001c0002t0061 a0001c0002t0081 a0001c0002t0095 a0001c0003t0001 a0001c0006t0002 a0001c0006t0029 a0001c0009t0089	a0001c0001t0002g0290 a0001c0001t0006g0191 a0001c0001t0006g0291 others(20): Show a0001c0001t0002g0290 a0001c0001t0006g0191 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0019g0287 a0001c0001t0060g0281 a0001c0001t0071g0286 a0001c0002t0003g0050 a0001c0002t0012g0192 a0001c0002t0012g0210 a0001c0002t0017g0015 a0001c0002t0017g0016 a0001c0002t0017g0017 a0001c0002t0061g0329 a0001c0002t0081g0297 a0001c0002t0095g0308 a0001c0003t0001g0261 a0001c0006t0002g0289 a0001c0006t0029g0309 a0001c0009t0089g0295	23	334	0.0689	300	c.53- others(317): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAGATCTCTCTGG		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(293): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTG G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0214 a0001c0006t0029g0214	1	334	0.0030	300	c.53- others(317): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGAGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAGATCTCTCTGG		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNK10_chr14_88175108_88328269	88276265	C C	CCCAGAGA others(293): Show CCCAGAGAGATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCGTTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0050 a0001c0002t0036 a0001c0002t0050	a0001c0002t0036g0003 a0001c0002t0050g0001 a0001c0002t0036g0003 a0001c0002t0050g0001	2	334	0.0060	300	c.53- others(317): Show c.53-12715_53-12714insCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCCAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAGATCTCTCTGG		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(293): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	232	0.0043	300	c.-67 others(319): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGG		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758790	T T	TCTCCAAG others(293): Show TCTCCAAGAGGAGATATATATATATATATATATATCTCCAAGAGGAGATA TATATATATATATATATCTCCAAGAGGAGATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTTGGAGATA TATATATATATATATATATCTCCTCTTGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	232	0.0043	300	c.-67 others(319): Show c.-67-48553_-67-48552insCTCCAAGAGGAGATATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATATCTCCTCTTGGAGATATATATATATATATATATATCTCCTCTT GGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAG		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(293): Show GGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGG TGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGG GGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGG A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0117 a0001c0006t0006g0117	1	270	0.0037	300	c.178 others(315): Show c.1785+44_1785+45insCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GTGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAG GAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGG GGAGGAGGGGGCAGGTGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(293): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03669.hp2 HG01433.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0155 a0001c0001t0067 a0001c0001t0155	a0001c0001t0067g0006 a0001c0001t0155g0120 a0001c0001t0067g0006 a0001c0001t0155g0120	2	398	0.0050	300	c.64+ others(317): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGTTTGGTGGTTGGGG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(293): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGT GAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCA C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0125 a0001c0001t0014g0125	1	330	0.0030	300	c.430 others(315): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGTTCCT GATGGTGGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCAT CCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTG ATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCC TTTACTCAGGGGTCCTGATG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(293): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGT CGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGC C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00673.hp1 others(6): Show HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG03704.hp1 HG03710.hp1	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0003c0006 a0022c0023	a0001c0001t0002 a0001c0001t0009 a0001c0001t0064 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0064 a0001c0002t0005 a0001c0002t0059 a0001c0002t0081 a0001c0010t0062 a0003c0006t0002 a0022c0023t0005	a0001c0001t0002g0049 a0001c0001t0009g0149 a0001c0001t0064g0042 others(6): Show a0001c0001t0002g0049 a0001c0001t0009g0149 a0001c0001t0064g0042 a0001c0002t0005g0132 a0001c0002t0059g0158 a0001c0002t0081g0059 a0001c0010t0062g0038 a0003c0006t0002g0044 a0022c0023t0005g0117	9	160	0.0563	300	c.135 others(319): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCAC TGCAAGCTCCGCCTCCCGGGTTCA		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621710	T T	TTTGGAGC others(293): Show TTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGGAGC CACAGCCCCCCTTGGACCCCCCACAGGAGACACAGCCCCCCTTGGAACCC CCACAGGAGACACAGCCCCCCTTGGAACCCCCACAGGAGCCACAGCCCCC CTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGACCCCCCACAGGAGC CACAGCCCCCCTTGGACCCCCCACAGGAGACACAGCCCCCCTTGGAACCC CCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGGAGACACAGCCCCC C	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19082.hp2 NA19082.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0000 a0012c0013t0001g0000	1	427	0.0023	300	c.383 others(307): Show c.383_384insGGGGGGCTGTGTCTCCTGTGGGGGTTCCAAGGGGGGCT GTGGCTCCTGTGGGGGTTCCAAGGGGGGCTGTGTCTCCTGTGGGGGGTCC AAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTG TGGGGGCTCCAAGGGGGGCTGTGGCTCCTGTGGGGGTTCCAAGGGGGGCT GTGTCTCCTGTGGGGGTTCCAAGGGGGGCTGTGTCTCCTGTGGGGGGTCC AAGGGGGGCTGTGGCTCCTGTGGGGGTTCCAAGGGGGGCTGTGGCTCCTG TGGGGGCTCCAA	p.Lys others(313): Show p.Lys128_Gly129insGlyGlyCysValSerCysGlyGlySerLysGl yGlyCysGlySerCysGlyGlySerLysGlyGlyCysValSerCysGlyG lySerLysGlyGlyCysGlySerCysGlyGlySerLysGlyGlyCysGly SerCysGlyGlySerLysGlyGlyCysGlySerCysGlyGlySerLysGl yGlyCysValSerCysGlyGlySerLysGlyGlyCysValSerCysGlyG lySerLysGlyGlyCysGlySerCysGlyGlySerLysGlyGlyCysGly SerCysGlyGlySerLys	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	428/1181	383/687	128/228			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(293): Show TGGCGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACAGTGGGG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTG ATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGT GATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGG G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	186	0.0054	300	c.956 others(317): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACTGTCATCACCCCCACCGCCAT CACCGTCATCACCCCCACCGCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360602	G G	GTGGGTGG others(293): Show GTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0043 a0043	a0043c0097 a0043c0097	a0043c0097t0002 a0043c0097t0002	a0043c0097t0002g0088 a0043c0097t0002g0088	1	186	0.0054	300	c.450 others(317): Show c.450+1797_450+1798insTCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATC CACCTATCCATCCACCCACCCA		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LCAT_chr16_67934750_67949120	67938322	G G	GTTGCCCA others(293): Show GTTGCCCAGGCTGGAGTGCAATAGTGTGATCTCGGCTCACCGCAACGTCC ACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAG TGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCC ACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	304	0.0066	300	c.15 others(311): Show c.1581_*1582insTATAGTGAGACCTCATCTCTACAAAAATTTTAAA AATTAGCCTGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGG CCGAGGTGGGCGGATCACTTGAGGTCAGAAGTTTGAGACCACCCTGACCA ACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGG TGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATT GTTTGAACCTGGGAGGTGGACGTTGCGGTGAGCCGAGATCACACTATTGC ACTCCAGCCTGGGCAA		LCAT	ENSG00000213398.8	transcript	ENST00000264005.10	protein_coding					1427		chr16	TogoVar
LINGO2_chr9_27932617_29218601	29151600	T T	TTACTATT others(293): Show TTACTATTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0051 a0001c0001t0021g0051	1	62	0.0161	300	c.-49 others(321): Show c.-492+61321_-492+61322insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAGAATAGTA		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6						chr9	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(293): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	2	102	0.0196	300	c.-44 others(311): Show c.-4438_-4437insACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACCCTGCAAAGACCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCATAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4259		chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(293): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAAGGAGGCCAGGAT CTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGTATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAAGG AGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	300	c.-44 others(311): Show c.-4438_-4437insACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCTTGCACAGATCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATACTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCTTGCACAGATCCTGGCCTCCTTGCACAGACCCTGGCCACTC TGCACAGATCCTGCCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4259		chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088840	G G	GGATCTGT others(293): Show GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCCGTGC AGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	102	0.0098	300	c.-46 others(311): Show c.-4622_-4621insATGGCCTCCCTGCACGGATCCTGGCCACTCTGCA CGGATCCTGGCCACTCTGCACGGATCCTGGCCACTCTGCACAGATCCTGC CTTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCGCTCTGCA CAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGG CCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCA CAGATCCTACCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGG CCACTCTGCACAGATC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4443		chr20	TogoVar
LMF1_chr16_848634_975984	858086	T T	TCGGGACG others(293): Show TCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0110 a0001c0005t0012g0110	1	294	0.0034	300	c.153 others(319): Show c.1530-3381_1530-3380insTGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACC ACTGCACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACGCACACCCGTCCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858285	C C	CGTGGTGT others(293): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCACGGG ATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGG GTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGT G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0244 a0001c0023t0001g0244	1	294	0.0034	300	c.153 others(319): Show c.1530-3580_1530-3579insCACACCCATCCCGAGACACCACGCAC ACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCC CGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGA GACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGAC ACCACTCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCA CGCACACCCATCCCGAGACACCAC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	894214	C C	CCTGGCTG others(293): Show CCTGGCTGTCCGCCCACCCATCCCCTGTCCACCGGACCGTCCGCCCACCC GTCCCCATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTC CACCGGACCGTCCACCCACCCGTCCCCCTGTCCACCGGACCGTCCACCCA CCCGCCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCCCT GTCCACCGGACCGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGC CCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCA G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0002 a0001c0055t0002	a0001c0055t0002g0137 a0001c0055t0002g0137	1	294	0.0034	300	c.664 others(317): Show c.664-1143_664-1142insCTGGACAGGGGGACGGGTGGGTGGACGG TCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACG GGTGGGCAGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGAC AGTCCAGTGGACAGGGGGGCGGGTGGGTGGACGGTCCGGTGGACAGGGGG ACGGGTGGGTGGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGACG GACGGTCTGATGGACATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGG GGATGGGTGGGCGGACAGCCAG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LMF1_chr16_848634_975984	894214	C C	CCTGGCTG others(293): Show CCTGGCTGTCCGCCCACCCATCCCCTGTCCACCGGACCGTCCGCCCACCC GTCCCCATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTC CACCGGACCGTCCACCCACCCGTCCCCCTGTCCACCGGACCGTCCACCCA CCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCCCT GTCCACCGGACCGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGC CCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCA G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02896.hp2 others(9): Show HG01109.hp1 HG01884.hp2 HG02896.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0011 a0017 a0018	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0018 a0003c0030 a0005c0027 a0006c0021 a0006c0048 a0011c0038 a0017c0050 a0018c0058	a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 others(8): Show a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0018t0001 a0003c0030t0002 a0005c0027t0001 a0006c0021t0006 a0006c0048t0006 a0011c0038t0001 a0017c0050t0001 a0018c0058t0001	a0001c0001t0002g0266 a0001c0003t0001g0124 a0001c0006t0001g0290 others(9): Show a0001c0001t0002g0266 a0001c0003t0001g0124 a0001c0006t0001g0290 a0001c0018t0001g0242 a0003c0030t0002g0008 a0005c0027t0001g0032 a0005c0027t0001g0127 a0006c0021t0006g0019 a0006c0048t0006g0108 a0011c0038t0001g0245 a0017c0050t0001g0051 a0018c0058t0001g0236	12	294	0.0408	300	c.664 others(317): Show c.664-1143_664-1142insCTGGACAGGGGGACGGGTGGGTGGACGG TCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACG GGTGGGCAGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGAC AGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAGGGGG ACGGGTGGGTGGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGACG GACGGTCTGATGGACATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGG GGATGGGTGGGCGGACAGCCAG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1483742	G G	GAGCTGGA others(293): Show GAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC CAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC GAGCTGGAAGGCGTCTGTGGAGGGACACTTGCTATTATAACATTGCGCAC GAGCTGGAAGACATCCGTGGAGGGACACTTTCTGCTGTAACATCGCGCAC C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	386	0.0026	300	c.668 others(315): Show c.668-257_668-256insGGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCTCGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCTGGTGCGCGATGTTACAGCAGAAAGTGTCCC TCCACGGATGTCTTCCAGCTCGTGCGCAATGTTATAATAGCAAGTGTCCC TCCACAGACGCCTTCCAGCT		LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	5/13						chr5	TogoVar
LRRC14B_chr5_186495_201334	194146	A A	ACTGTCCT others(293): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02723.hp2 others(6): Show HG01884.hp1 HG02559.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp1 HG06807.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0012 a0001c0002t0044 a0001c0002t0006 a0001c0002t0012 a0001c0002t0044	a0001c0002t0006g0005 a0001c0002t0012g0005 a0001c0002t0044g0005 a0001c0002t0006g0005 a0001c0002t0012g0005 a0001c0002t0044g0005	9	470	0.0192	300	c.900 others(315): Show c.900-519_900-518insTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCC CCGCCGTCTGCTTTCTGAGC		LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 NA18522.hp2 HG02451.hp2 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0040 a0001c0004t0039 a0001c0004t0040	a0001c0004t0039g0003 a0001c0004t0040g0003 a0001c0004t0039g0003 a0001c0004t0040g0003	3	414	0.0073	300	c.-43 others(311): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02738.hp2 HG03139.hp1 others(7): Show HG02280.hp2 HG02738.hp2 HG03139.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 NA18612.hp1 NA19003.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0002t0003 a0001c0011t0057	a0001c0001t0002g0001 a0001c0001t0008g0001 a0001c0001t0014g0001 others(3): Show a0001c0001t0002g0001 a0001c0001t0008g0001 a0001c0001t0014g0001 a0001c0001t0018g0001 a0001c0002t0003g0001 a0001c0011t0057g0001	10	414	0.0242	300	c.-43 others(311): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01884.hp1 others(29): Show HG00733.hp2 HG01109.hp2 HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 NA18945.hp2 NA18959.hp1 NA18970.hp1 NA18971.hp2 NA18984.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 others(11): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0070 a0001c0001t0081 a0001c0002t0003 a0001c0002t0008 a0001c0002t0029 a0001c0002t0030	a0001c0001t0007g0002 a0001c0001t0014g0001 a0001c0001t0015g0001 others(12): Show a0001c0001t0007g0002 a0001c0001t0014g0001 a0001c0001t0015g0001 a0001c0001t0016g0001 a0001c0001t0021g0001 a0001c0001t0024g0001 a0001c0001t0027g0001 a0001c0001t0033g0001 a0001c0001t0070g0001 a0001c0001t0081g0001 a0001c0002t0003g0001 a0001c0002t0003g0014 a0001c0002t0008g0001 a0001c0002t0029g0001 a0001c0002t0030g0001	32	414	0.0773	300	c.-43 others(311): Show c.-4349_-4348insAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4187		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGCGAGGAGGGGTCGGCGTGGGCGGT GGGGAGCGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0001 a0001c0002t0053g0001	1	414	0.0024	300	c.-43 others(310): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGCGAGGAGGGG TCGGCGTGGGCGGTGGGGAGCGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4158		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02683.hp1 HG03491.hp2 HG01106.hp2 HG02683.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0018g0001 a0001c0001t0002g0001 a0001c0001t0018g0001	3	414	0.0073	300	c.-43 others(310): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4158		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(293): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01884.hp2 HG02004.hp1 others(12): Show HG00323.hp1 HG01884.hp2 HG02004.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18965.hp2 NA19005.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 others(6): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0002t0003 a0001c0002t0011 a0001c0002t0029 a0001c0002t0051	a0001c0001t0007g0002 a0001c0001t0014g0001 a0001c0001t0014g0019 others(7): Show a0001c0001t0007g0002 a0001c0001t0014g0001 a0001c0001t0014g0019 a0001c0001t0015g0001 a0001c0001t0016g0016 a0001c0001t0021g0001 a0001c0002t0003g0001 a0001c0002t0011g0001 a0001c0002t0029g0001 a0001c0002t0051g0001	15	414	0.0362	300	c.-43 others(310): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4158		chr8	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTACTCTA others(293): Show GTACTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	194	0.0052	300	c.71- others(313): Show c.71-948_71-947insCTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATA		LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(293): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp1 HG02074.hp1 others(6): Show HG00738.hp2 HG01256.hp1 HG02074.hp1 HG02258.hp2 HG02976.hp2 HG03209.hp2 HG04204.hp2 NA18955.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0001t0001g0167 a0006c0009t0001g0068	9	194	0.0464	300	c.71- others(313): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATA		LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
MAML2_chr11_95971598_96348195	96042529	T T	TAAAATCC others(293): Show TAAAATCCCAATTTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0063 a0001c0001t0009g0063	1	230	0.0044	300	c.213 others(321): Show c.2139+49362_2139+49363insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGAAATTGGGATTTT		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4						chr11	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(293): Show AACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGAACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	330	0.0030	300	c.92+ others(315): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGG GAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTTCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGG GAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MBNL1_chr3_152263929_152470780	152311692	A A	AGCTCACA others(293): Show AGCTCACACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAACCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp1 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	338	0.0059	300	c.174 others(319): Show c.174+11343_174+11344insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAA CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTCACACTATTCTTTTT		MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
MCCC1_chr3_183010218_183104496	183013803	T T	TAAACAGA others(293): Show TAAACAGAGAAAGTTCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	344	0.0029	300	c.16 others(311): Show c.1634_*1635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGAACTTTCTCTGTTT		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding					1414		chr3	TogoVar
ME1_chr6_83205402_83436051	83384266	T T	TAAAATAA others(293): Show TAAAATAATTTACATTCCCTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	272	0.0037	300	c.362 others(319): Show c.362+14100_362+14101insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGGGAATGTAAATTATTTT		ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13						chr6	TogoVar
MED15_chr22_20502610_20592619	20521097	T T	TTTTTTTT others(293): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0303 a0003c0005t0010g0303	1	341	0.0029	300	c.68+ others(317): Show c.68+13368_68+13369insTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTTTTTTTTTTTTTT		MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr22	TogoVar
MELTF_chr3_196996740_197034817	197033710	T T	TGGTTGGG others(293): Show TGGTTGGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACAC TCTTGCTGACTGGTTGTGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAG GATGTTACACTCTTGCTGACTGGTTACTGTGTGAGCACCTGCTGTAGTGT GATGTCAGAGGATGTTACACTCTTGCTGACGGGTTGGGGTGTCAGCATCT GCAGTAGTGTGATGTCAGAGGATGTTACCCTCTTGCTGACTTGTTGGGGT GTGAGCACCTGAAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0021 a0014c0029t0021	a0014c0029t0021g0067 a0014c0029t0021g0067	1	420	0.0024	300	c.-40 others(311): Show c.-4009_-4008insCATCAGCAAGAGTGTAACATCCTCTGACATCACA CTACTTCAGGTGCTCACACCCCAACAAGTCAGCAAGAGGGTAACATCCTC TGACATCACACTACTGCAGATGCTGACACCCCAACCCGTCAGCAAGAGTG TAACATCCTCTGACATCACACTACAGCAGGTGCTCACACAGTAACCAGTC AGCAAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACACC ACAACCAGTCAGCAAGAGTGTAAAATCTTCTGACATCACACGACTGCAGG TGCTCACACCCCAACC		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					3894		chr3	TogoVar
MELTF_chr3_196996740_197034817	197034594	A A	ACTCTTGC others(293): Show ACTCTTGCTGACTGGTTACTTTGTGAGCACCTGCAGTAGTGTGATGTCAG AGGATGTTACGCTCTTGCTGACTGGTTACTTTGTGAGCACCTGCAGTAGT GTGATGTCAGAGGATGTTACGCTCTTGCTGACTGGTTACTGTGTGAGCAC CTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTGACGGGTTGGG GTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTG ACGGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTAC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	420	0.0024	300	c.-48 others(311): Show c.-4893_-4892insCGTAACATCCTCTGACATCACACTACTGCAGGTG CTCACACCCCAACCCGTCAGCAAGAGCGTAACATCCTCTGACATCACACT ACTGCAGGTGCTCACACCCCAACCCGTCAGCAAGAGCGTAACATCCTCTG ACATCACACTACTGCAGGTGCTCACACAGTAACCAGTCAGCAAGAGCGTA ACATCCTCTGACATCACACTACTGCAGGTGCTCACAAAGTAACCAGTCAG CAAGAGCGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACAAAGT AACCAGTCAGCAAGAG		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					4778		chr3	TogoVar
MELTF_chr3_196996740_197034817	197034594	A A	ACTCTTGC others(293): Show ACTCTTGCTGACTGGTTACTTTGTGAGCACCTGCAGTAGTGTGATGTCAG AGGATGTTACGCTCTTGCTGACTGGTTACTTTGTGAGCACCTGCAGTAGT GTGATGTCAGAGGATGTTACGCTCTTGCTGACTGGTTACTGTGTGAGCAC CTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTGACTGGTTACT GTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTG ACGGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTAC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA21309.hp2 HG01099.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0048 a0001c0001t0006 a0001c0001t0048	a0001c0001t0006g0070 a0001c0001t0048g0069 a0001c0001t0006g0070 a0001c0001t0048g0069	2	420	0.0048	300	c.-48 others(311): Show c.-4893_-4892insCGTAACATCCTCTGACATCACACTACTGCAGGTG CTCACACCCCAACCCGTCAGCAAGAGCGTAACATCCTCTGACATCACACT ACTGCAGGTGCTCACACAGTAACCAGTCAGCAAGAGCGTAACATCCTCTG ACATCACACTACTGCAGGTGCTCACACAGTAACCAGTCAGCAAGAGCGTA ACATCCTCTGACATCACACTACTGCAGGTGCTCACAAAGTAACCAGTCAG CAAGAGCGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACAAAGT AACCAGTCAGCAAGAG		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					4778		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(293): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCCCA CACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACC CCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCC ACACACACACACCCCCCGCCCCACACACACACCCCCCCACACACACACCC CGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCAC ACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACACA C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	399	0.0025	300	c.557 others(317): Show c.557-2656_557-2655insCGCCCCACACACACACCCCCCCACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACACCCCCCGCCCCACACACACACCCCCCCACACACACACCCCGCCC CACACACACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACACACCCCC CGCCCCACACACACACACCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL16_chr17_2411049_2516888	2448182	G G	GGCCGCCC others(293): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGATGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCC A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0197 a0001c0001t0082g0197	1	298	0.0034	300	c.729 others(317): Show c.729-6624_729-6623insTGGGCAGAAGCGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCATCCTCCCAGAC GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC CCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGC		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(293): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp1 NA18522.hp2 HG02451.hp1 HG02572.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	3	400	0.0075	300	c.26 others(311): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2579		chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)