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 (≤).

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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
MMP17_chr12_131823393_131856771	131824321	GGGCCACC others(28): Show GGGCCACCTGGGAGCTGCCCGTCAGAGTGTCTGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	398	0.0025	-35	c.-41 others(46): Show c.-4173_-4139delGGCCACCTGGGAGCTGCCCGTCAGAGTGTCTGCA C		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					4071		chr12	TogoVar
MPO_chr17_58264855_58285935	58285768	ATCCCTCA others(28): Show ATCCCTCAGCCAGGCACGGTGGCTCATGCCTGTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	-35	c.-50 others(46): Show c.-5045_-5011delATTACAGGCATGAGCCACCGTGCCTGGCTGAGGG A		MPO	ENSG00000005381.9	transcript	ENST00000225275.4	protein_coding					4834		chr17	TogoVar
MPPED1_chr22_43407014_43512848	43512750	CAGCAGCA others(28): Show CAGCAGCAGGTAAGGCCACTGCTAAAGGTATATGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0212 a0001c0003t0027g0212	1	250	0.0040	-35	c.71 others(46): Show c.7135_*7169delAGCAGCAGGTAAGGCCACTGCTAAAGGTATATGC T		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding					4903		chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787561	ATATATAT others(28): Show ATATATATTATATATATCATATATACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG01258.hp2 others(24): Show HG01069.hp2 HG01109.hp2 HG01258.hp2 HG01891.hp2 HG02071.hp1 HG02132.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18962.hp1 NA18983.hp1 NA18994.hp2 NA19002.hp2 NA19012.hp1 NA19058.hp2 NA19066.hp1 NA19075.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0008 a0010 a0013 a0014 a0015 a0016 a0020 a0022 a0024 a0039 a0083 a0086 a0096 a0098 a0108	a0001c0027 a0002c0016 a0002c0044 others(20): Show a0001c0027 a0002c0016 a0002c0044 a0003c0002 a0004c0010 a0004c0036 a0008c0005 a0010c0039 a0013c0011 a0014c0109 a0015c0028 a0016c0021 a0020c0023 a0022c0072 a0022c0075 a0024c0130 a0039c0077 a0039c0119 a0083c0107 a0086c0110 a0096c0082 a0098c0081 a0108c0147	a0001c0027t0001 a0002c0016t0001 a0002c0044t0001 others(20): Show a0001c0027t0001 a0002c0016t0001 a0002c0044t0001 a0003c0002t0001 a0004c0010t0001 a0004c0036t0001 a0008c0005t0001 a0010c0039t0001 a0013c0011t0001 a0014c0109t0001 a0015c0028t0001 a0016c0021t0001 a0020c0023t0001 a0022c0072t0001 a0022c0075t0001 a0024c0130t0001 a0039c0077t0001 a0039c0119t0001 a0083c0107t0001 a0086c0110t0001 a0096c0082t0001 a0098c0081t0001 a0108c0147t0001	a0001c0027t0001g0104 a0002c0016t0001g0174 a0002c0044t0001g0150 others(23): Show a0001c0027t0001g0104 a0002c0016t0001g0174 a0002c0044t0001g0150 a0002c0044t0001g0151 a0003c0002t0001g0117 a0004c0010t0001g0158 a0004c0036t0001g0118 a0008c0005t0001g0134 a0010c0039t0001g0040 a0013c0011t0001g0140 a0014c0109t0001g0103 a0015c0028t0001g0129 a0015c0028t0001g0130 a0016c0021t0001g0005 a0016c0021t0001g0172 a0020c0023t0001g0133 a0022c0072t0001g0046 a0022c0075t0001g0138 a0024c0130t0001g0152 a0039c0077t0001g0132 a0039c0119t0001g0171 a0083c0107t0001g0173 a0086c0110t0001g0139 a0096c0082t0001g0170 a0098c0081t0001g0357 a0108c0147t0001g0143	27	378	0.0714	-35	c.277 others(52): Show c.277-1902_277-1868delATTATATATTATATATATCATATATACA TATATAT		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787596	TTATATAT others(28): Show TTATATATTATATATATCATATATACATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG00741.hp2 HG01261.hp2	a0004 a0004	a0004c0007 a0004c0036 a0004c0007 a0004c0036	a0004c0007t0001 a0004c0036t0001 a0004c0007t0001 a0004c0036t0001	a0004c0007t0001g0154 a0004c0036t0001g0153 a0004c0007t0001g0154 a0004c0036t0001g0153	2	378	0.0053	-35	c.277 others(52): Show c.277-1850_277-1816delTCATATATACATATATATTATATATATT ATATATA		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL45_chr17_38292168_38328211	38313314	ATATATAT others(28): Show ATATATATATATATATATACATATATATATATACGT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	287	0.0035	-35	c.462 others(52): Show c.462-5372_462-5338delTATATATATATATATATACATATATATA TATACGT		MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7						chr17	TogoVar
MRPL53_chr2_74466982_74477680	74476679	GGGTTTGT others(28): Show GGGTTTGTTTCTTTGGTTTGATAGGTTGTTTTTGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-35	c.-40 others(46): Show c.-4054_-4020delTCCAAAAACAACCTATCAAACCAAAGAAACAAAC C		MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding					4000		chr2	TogoVar
MRPS36_chr5_69212760_69235158	69220249	TAGAGCTT others(28): Show TAGAGCTTAGAATTTGGTTGTTGATCCATATCTTGA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18949.hp2 NA18970.hp2 HG01433.hp2 NA18949.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093	3	409	0.0073	-35	c.42+ others(50): Show c.42+2381_42+2415delAGCTTAGAATTTGGTTGTTGATCCATATCT TGAAG		MRPS36	ENSG00000134056.12	transcript	ENST00000256441.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
MS4A3_chr11_60051665_60076115	60075908	CTGGTACA others(28): Show CTGGTACATAAGTGAATATGTAAAAAAGAAACCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	-35	c.56 others(46): Show c.5676_*5710delTGGTACATAAGTGAATATGTAAAAAAGAAACCCA G		MS4A3	ENSG00000149516.15	transcript	ENST00000278865.8	protein_coding					4794		chr11	TogoVar
MS4A5_chr11_60424572_60452792	60441299	GGATAGCA others(28): Show GGATAGCATCGGGAGATATACCTAATGCTAGATGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(108): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18976.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA20300.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0002t0001g0117 a0001c0003t0001g0020 a0001c0003t0001g0058 a0001c0003t0001g0185 a0001c0003t0001g0216 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0008t0001g0001 a0006c0009t0001g0186	111	462	0.2403	-35	c.493 others(52): Show c.493-6347_493-6313delTAGCATCGGGAGATATACCTAATGCTAG ATGACGA		MS4A5	ENSG00000166930.7	transcript	ENST00000300190.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH2_chr2_47398156_47488223	47461941	TCTTTTCT others(28): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	370	0.0027	-35	c.138 others(54): Show c.1387-1085_1387-1051delTCTTTTCTTTTCTTTTCTTTTCTTTC CTTTCCTTT		MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461946	TCTTTTCT others(28): Show TCTTTTCTTTTCTTTTCTTTTCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	370	0.0027	-35	c.138 others(54): Show c.1387-1080_1387-1046delTCTTTTCTTTTCTTTTCTTTCCTTTC CTTTCCTTT		MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461951	TCTTTTCT others(28): Show TCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG03225.hp2 others(1): Show HG02257.hp2 HG02615.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010	4	370	0.0108	-35	c.138 others(54): Show c.1387-1075_1387-1041delTCTTTTCTTTTCTTTCCTTTCCTTTC CTTTCCTTT		MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	768173	AGGAAGGG others(28): Show AGGAAGGGCAGCATCTTCCCGTGTGGTGGGGCCTAG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0276 a0003c0004t0003g0276	1	388	0.0026	-35	c.159 others(52): Show c.1597-194_1597-160delATCTTCCCGTGTGGTGGGGCCTAGGGAA GGGCAGC		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769183	CCCCGGCC others(28): Show CCCCGGCCCCAGCCCCAACCCCAACCCCAACCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0345 a0004c0021t0001g0345	1	388	0.0026	-35	c.45 others(44): Show c.451_*485delCCCGGCCCCAGCCCCAACCCCAACCCCAACCCCGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					322		chr16	TogoVar
MT3_chr16_56584528_56596085	56595923	ACTTACCA others(28): Show ACTTACCATTAAGTGAAAGAAAAAAAAAAGAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	438	0.0046	-35	c.49 others(46): Show c.4975_*5009delCTTACCATTAAGTGAAAGAAAAAAAAAAGAAGAA G		MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding					4839		chr16	TogoVar
MTDH_chr8_97639184_97735260	97682250	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	370	0.0027	-35	c.484 others(52): Show c.484-4416_484-4382delATATATATATATATATATATATATATAT ATTTTTT		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTFR1L_chr1_25814954_25837938	25832383	AGACACTT others(28): Show AGACACTTTGTGCCCAGCTGTCACTCACTCAGCAGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0034 a0001c0001t0014g0034	1	402	0.0025	-35	c.35 others(44): Show c.358_*392delGACACTTTGTGCCCAGCTGTCACTCACTCAGCAGC		MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding	7/7				358		chr1	TogoVar
MTFR1_chr8_65639734_65715562	65662050	TCTCCCTC others(28): Show TCTCCCTCTCTCTCTCCCTCTCTTTCCACAGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG03195.hp2 HG02257.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	3	348	0.0086	-35	c.-80 others(52): Show c.-80-7819_-80-7785delCCTCTCTCTCTCCCTCTCTTTCCACAGT CTCCCTC		MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTMR6_chr13_25241222_25292488	25288878	ATATATAT others(28): Show ATATATATATATATATATATACACATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0274 a0005c0006t0015g0286 a0005c0006t0015g0274 a0005c0006t0015g0286	2	346	0.0058	-35	c.-16 others(46): Show c.-1666_-1632delATATATATATATGTGTATATATATATATATATAT A		MTMR6	ENSG00000139505.13	transcript	ENST00000381801.6	protein_coding					1391		chr13	TogoVar
MTNR1A_chr4_186528655_186560567	186547344	TCCTCACA others(28): Show TCCTCACACCCTGTTCGTGGGACACACTGTCCACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp2 HG03540.hp1 others(2): Show HG00733.hp1 HG02451.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0003t0001g0061 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0003t0001g0061 a0001c0003t0001g0069 a0001c0003t0001g0070	5	396	0.0126	-35	c.184 others(52): Show c.184+7803_184+7837delGTGTGGACAGTGTGTCCCACGAACAGGG TGTGAGG		MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1						chr4	TogoVar
MUC4_chr3_195741771_195816929	195749032	ATCTGAAG others(28): Show ATCTGAAGTAAGCCTTCAGCGTGCTCACGTTCACTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0058 a0058	a0058c0200 a0058c0200	a0058c0200t0015 a0058c0200t0015	a0058c0200t0015g0234 a0058c0200t0015g0234	1	249	0.0040	-35	c.158 others(48): Show c.15872-3_15903delCAGTGAACGTGAGCACGCTGAAGGCTTACTTC AGA	p.Asn others(6): Show p.Asn5292fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	24/25	16015/16756	15872/16239	5291/5412			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1166112	TGAGACCC others(28): Show TGAGACCCTGCACCAAACACACAGTCTCTCCCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0002 a0009c0020t0002	a0009c0020t0002g0008 a0009c0020t0002g0008	3	292	0.0103	-35	c.138 others(52): Show c.1386+366_1386+400delAAACACACAGTCTCTCCCAGAGGAGACC CTGCACC		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1166181	GTGAGACC others(28): Show GTGAGACCCTGCACCCAACACACAGTCTACCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03195.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0002 a0010c0019t0002	a0010c0019t0002g0007 a0010c0019t0002g0007	3	292	0.0103	-35	c.138 others(52): Show c.1386+449_1386+483delACCCAAGATGAGACCCTGCACCCAACAC ACAGTCT		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1167190	CGATGAGA others(28): Show CGATGAGACCCTGCACCCAACACACAGTCTCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02922.hp1 HG01891.hp2 HG02818.hp2 HG02922.hp1	a0017 a0032 a0017 a0032	a0017c0040 a0017c0041 a0032c0042 a0017c0040 a0017c0041 a0032c0042	a0017c0040t0003 a0017c0041t0002 a0032c0042t0001 a0017c0040t0003 a0017c0041t0002 a0032c0042t0001	a0017c0040t0003g0228 a0017c0041t0002g0226 a0032c0042t0001g0227 a0017c0040t0003g0228 a0017c0041t0002g0226 a0032c0042t0001g0227	3	292	0.0103	-35	c.138 others(52): Show c.1387-656_1387-622delCCCAAGATGAGACCCTGCACCCAACACA CAGTCTC		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUSK_chr9_110663791_110811558	110701670	ATTTTATT others(28): Show ATTTTATTTTTTTTACTTTACTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	326	0.0031	-35	c.628 others(52): Show c.628+4208_628+4242delTATTTTTTTTACTTTACTTTATTTTATT TTATTTT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701685	CTTTACTT others(28): Show CTTTACTTTATTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0229 a0002c0004t0005g0229	1	326	0.0031	-35	c.628 others(52): Show c.628+4224_628+4258delCTTTATTTTATTTTATTTTATTTTATTT TATTTTA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYCBP2_chr13_77039657_77332094	77066829	TTACTGGC others(28): Show TTACTGGCATTTATAAGTTTTTTTCTGTGAACTGAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	334	0.0030	-35	c.124 others(54): Show c.12455+717_12456-742delGTCAGTTCACAGAAAAAAACTTATAA ATGCCAGTA		MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	71/82						chr13	TogoVar
MYCT1_chr6_152692897_152729569	152703940	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18960.hp2 HG01255.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0067 a0001c0001t0003g0085 a0001c0001t0002g0067 a0001c0001t0003g0085	2	444	0.0045	-35	c.196 others(52): Show c.196+5882_196+5916delATTTTATTTTATTTTATTTTATTTTATT TTATTTT		MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
MYH13_chr17_10295865_10378006	10323779	AAAAAAAA others(28): Show AAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0091 a0005c0016t0001g0091	1	382	0.0026	-35	c.293 others(52): Show c.2934+208_2934+242delCTTCTTCTTCTTCTTCTTCTTCTTCTTT TTTTTTT		MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding	23/40						chr17	TogoVar
MYH9_chr22_36276280_36392967	36384606	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02602.hp2 HG03942.hp2 HG00323.hp2 HG02602.hp2 HG03942.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0004 a0009c0016t0001 a0001c0001t0001 a0001c0001t0004 a0009c0016t0001	a0001c0001t0001g0211 a0001c0001t0004g0212 a0009c0016t0001g0210 a0001c0001t0001g0211 a0001c0001t0004g0212 a0009c0016t0001g0210	3	242	0.0124	-35	c.-20 others(52): Show c.-20+3166_-20+3200delATATATATATATATATATATATATATAT ATTTTTT		MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40						chr22	TogoVar
MYO10_chr5_16656907_16941288	16840695	CAATATGC others(28): Show CAATATGCATTTTTGTTGTGCAATATGCACAACAAA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	272	0.0037	-35	c.121 others(54): Show c.121-22563_121-22529delTTTGTTGTGCATATTGCACAACAAAA ATGCATATT		MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40						chr5	TogoVar
MYO6_chr6_75744239_75924537	75768326	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0334 a0001c0001t0046g0334	1	358	0.0028	-35	c.-48 others(54): Show c.-48+18941_-48+18975delTTTATTTTATTTTATTTTATTTTATT TTATTTTAT		MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr6	TogoVar
MYT1L_chr2_1784113_2336275	2236781	CTTCTTCT others(28): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG03098.hp1 others(2): Show HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0013 a0001c0015t0001	a0001c0001t0001g0079 a0001c0002t0001g0046 a0001c0002t0002g0047 others(2): Show a0001c0001t0001g0079 a0001c0002t0001g0046 a0001c0002t0002g0047 a0001c0004t0013g0033 a0001c0015t0001g0015	5	104	0.0481	-35	c.-42 others(56): Show c.-421+47588_-421+47622delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24						chr2	TogoVar
MYT1_chr20_64159452_64247253	64212189	GGGGGCCA others(28): Show GGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCAGGGT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	223	0.0045	-35	c.151 others(50): Show c.1517+56_1517+90delCCAGGGTGGGGGCCGTGGTGGGGGCCAGGG TGGGG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64230218	TAACTCAG others(28): Show TAACTCAGATTTGGGCCGGGCACTGTGGCTCATGCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0110 a0001c0006t0015g0110	1	223	0.0045	-35	c.267 others(54): Show c.2676-1945_2676-1911delAACTCAGATTTGGGCCGGGCACTGTG GCTCATGCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	18/22						chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688370	AATATGTG others(28): Show AATATGTGTGTACAATATACACATATAATATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02615.hp2 HG02809.hp2 HG00544.hp1 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0002 a0001c0003t0006	a0001c0003t0002g0079 a0001c0003t0006g0117 a0001c0003t0006g0120 a0001c0003t0002g0079 a0001c0003t0006g0117 a0001c0003t0006g0120	3	352	0.0085	-35	c.38 others(46): Show c.3873_*3907delATATGTGTGTACAATATACACATATAATATAAAA T		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					3007		chr15	TogoVar
NAA25_chr12_112021689_112113783	112059075	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01109.hp2 others(88): Show HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0008 a0006c0007 a0001c0001 a0005c0008 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0005c0008t0003 a0006c0007t0003	a0001c0001t0001g0212 a0001c0001t0003g0002 a0001c0001t0003g0004 others(88): Show a0001c0001t0001g0212 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0005g0019 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0084 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0217 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0086 a0001c0001t0009g0094 a0001c0001t0019g0003 a0005c0008t0003g0021 a0006c0007t0003g0022	91	342	0.2661	-35	c.144 others(54): Show c.1447+1160_1447+1194delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	13/23						chr12	TogoVar
NAALADL2_chr3_174854334_175815548	175199840	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	64	0.0156	-35	c.546 others(54): Show c.546-34089_546-34055delATATATATATATATATATATATATTT TTTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAGK_chr2_71063648_71084808	71081034	ATTTATTT others(28): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp2 others(63): Show HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG03491.hp2 HG03710.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp2 NA19054.hp2 NA19059.hp1 NA19060.hp1 NA19065.hp2 NA19074.hp1 NA19078.hp2 NA19082.hp1 NA19086.hp2 NA19091.hp1 NA20805.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0005c0009 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0005t0001 a0001c0010t0002 a0005c0009t0002 a0006c0011t0002	a0001c0001t0002g0016 a0001c0001t0003g0001 a0001c0001t0003g0013 others(17): Show a0001c0001t0002g0016 a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0006g0001 a0001c0001t0011g0024 a0001c0001t0024g0013 a0001c0002t0002g0003 a0001c0002t0002g0035 a0001c0002t0002g0050 a0001c0002t0002g0077 a0001c0002t0002g0092 a0001c0002t0003g0078 a0001c0002t0018g0003 a0001c0005t0001g0005 a0001c0005t0001g0081 a0001c0010t0002g0003 a0005c0009t0002g0026 a0006c0011t0002g0003	66	442	0.1493	-35	c.25 others(46): Show c.2527_*2561delTTTATTTTATTTTATTTTATTTTATTTTATTTTA T		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1227		chr2	TogoVar
NAGS_chr17_43999622_44014068	44013309	GATCATTC others(28): Show GATCATTCTTTTTATATATATATAGAAGTAGAAACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0001 a0003c0005t0002g0001	1	380	0.0026	-35	c.47 others(46): Show c.4709_*4743delATCATTCTTTTTATATATATATAGAAGTAGAAAC T		NAGS	ENSG00000161653.11	transcript	ENST00000293404.8	protein_coding					4242		chr17	TogoVar
NALCN_chr13_101048776_101421508	101167699	TTGGTGGT others(28): Show TTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01081.hp1 others(19): Show HG00280.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp2 HG01515.hp1 HG01952.hp2 HG02129.hp1 HG02258.hp2 HG02615.hp2 HG02723.hp1 HG02735.hp2 HG03098.hp2 HG03540.hp1 HG03688.hp1 HG04204.hp1 NA18906.hp2 NA18943.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0023 a0001c0024 a0001c0025 a0001c0027	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0006t0003 a0001c0006t0005 a0001c0006t0008 a0001c0006t0013 a0001c0007t0002 a0001c0008t0001 a0001c0008t0016 a0001c0014t0002 a0001c0023t0004 a0001c0024t0012 a0001c0025t0004 a0001c0027t0009	a0001c0001t0001g0011 a0001c0001t0005g0021 a0001c0001t0006g0032 others(19): Show a0001c0001t0001g0011 a0001c0001t0005g0021 a0001c0001t0006g0032 a0001c0001t0006g0056 a0001c0001t0006g0121 a0001c0001t0008g0017 a0001c0006t0003g0016 a0001c0006t0005g0026 a0001c0006t0008g0047 a0001c0006t0013g0029 a0001c0007t0002g0067 a0001c0007t0002g0071 a0001c0007t0002g0074 a0001c0008t0001g0063 a0001c0008t0001g0083 a0001c0008t0001g0172 a0001c0008t0016g0116 a0001c0014t0002g0089 a0001c0023t0004g0052 a0001c0024t0012g0081 a0001c0025t0004g0027 a0001c0027t0009g0078	22	176	0.1250	-35	c.183 others(54): Show c.1839+8566_1839+8600delTACCAAGTAGCTGGGATTACAGGCAT GCACCACCA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	15/43						chr13	TogoVar
NAT2_chr8_18386282_18406218	18387824	TTGATGAG others(28): Show TTGATGAGGTCGCTATCTTCTAGTGAGCGTTTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19089.hp1 NA18994.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0001 a0001c0001t0001g0058	2	408	0.0049	-35	c.-35 others(46): Show c.-3527_-3493delTGATGAGGTCGCTATCTTCTAGTGAGCGTTTGCC C		NAT2	ENSG00000156006.5	transcript	ENST00000286479.4	protein_coding					3457		chr8	TogoVar
NAV1_chr1_201534127_201831969	201756794	CTCTTTCT others(28): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0082 a0001c0001t0016g0082	1	210	0.0048	-35	c.208 others(56): Show c.2088-23625_2088-23591delCTTTCTTTCTTTCCTTCTTTCTTT CTTTCTTTCTT		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV3_chr12_77825894_78218010	77961022	ACATGTAT others(28): Show ACATGTATACGCATATATGTATATATGTATATGTTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0012 a0001c0002t0075g0012	1	186	0.0054	-35	c.415 others(52): Show c.415-5172_415-5138delGCATGTATACGCATATATGTATATATGT ATATGTT		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr12	TogoVar
NAV3_chr12_77825894_78218010	78190598	TGTTGGAT others(28): Show TGTTGGATCTTAATAGATAAGTAGGAAATAACATGG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0186 a0001c0002t0046g0186	1	186	0.0054	-35	c.629 others(52): Show c.6291+383_6291+417delGGATCTTAATAGATAAGTAGGAAATAAC ATGGGTT		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	34/39					INFO_REALIGN_3_PRIME	chr12	TogoVar
NBEAL2_chr3_46974666_47014701	46989204	GCAGGGAG others(28): Show GCAGGGAGGCAGGCGGTAGCCATGGCGGGGCTAACC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0074 a0006c0007t0001g0074	1	360	0.0028	-35	c.351 others(48): Show c.351+40_352-20delAGGGAGGCAGGCGGTAGCCATGGCGGGGCTAA CCC		NBEAL2	ENSG00000160796.18	transcript	ENST00000450053.8	protein_coding	4/53					INFO_REALIGN_3_PRIME	chr3	TogoVar
NBPF15_chr1_144416390_144466669	144442131	GTATATAT others(28): Show GTATATATATATATATAATATATATACACGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19240.hp1 HG02896.hp2 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0012g0208 a0001c0001t0001g0011 a0001c0001t0012g0208	3	394	0.0076	-35	c.-19 others(54): Show c.-190-1871_-190-1837delTATACACGTGTATATATATTATATAT ATATATATA		NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	6/21						chr1	TogoVar
NCAPH2_chr22_50503224_50529780	50520246	ATCTTATT others(28): Show ATCTTATTTTATTTATTTATTTTTGAGACAGGGTCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0198 a0001c0001t0013g0198	1	384	0.0026	-35	c.862 others(50): Show c.862-717_862-683delCTTATTTTATTTATTTATTTTTGAGACAGG GTCTT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr22	TogoVar
NCMAP_chr1_24551087_24614328	24604604	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	402	0.0025	-35	c.168 others(51): Show c.168-1000_168-966delATATATATATATATATATATATATATATA TATATA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar

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