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
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01433.hp2 HG02132.hp2 others(2): Show HG00609.hp2 HG01433.hp2 HG02132.hp2 NA18950.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0011 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0029 a0001c0002t0049 a0001c0005t0030	a0001c0001t0001g0040 a0001c0001t0011g0069 a0001c0001t0029g0018 others(2): Show a0001c0001t0001g0040 a0001c0001t0011g0069 a0001c0001t0029g0018 a0001c0002t0049g0082 a0001c0005t0030g0016	5	116	0.0431	-21	c.336 others(42): Show c.3364+65632_3364+65652delTTTTTTTTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50495359	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp2 HG01952.hp1 others(1): Show HG01099.hp1 HG01934.hp2 HG01952.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0027	a0001c0001t0003g0026 a0001c0001t0005g0046 a0001c0001t0009g0030 others(1): Show a0001c0001t0003g0026 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0027g0009	4	116	0.0345	-21	c.307 others(38): Show c.3070+525_3070+545delCACACACACACACACACACAC		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	15/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	78203820	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGGTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 NA19043.hp1 HG01884.hp2 HG02922.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0002t0007 a0001c0004t0006 a0001c0001t0008 a0001c0002t0007 a0001c0004t0006	a0001c0001t0008g0008 a0001c0002t0007g0009 a0001c0004t0006g0021 a0001c0001t0008g0008 a0001c0002t0007g0009 a0001c0004t0006g0021	3	24	0.1250	-21	c.-70 others(42): Show c.-704+33161_-704+33181delTGTGGTTTGTGTGTGTGTGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79049054	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp2 HG01081.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0005 a0001c0004t0001 a0001c0004t0005	a0001c0004t0001g0005 a0001c0004t0005g0003 a0001c0004t0001g0005 a0001c0004t0005g0003	2	24	0.0833	-21	c.326 others(42): Show c.3262+60916_3262+60936delAAAAAAAAAAAAAAAAAATAA		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158281	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03710.hp2 HG01081.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0196 a0001c0001t0008g0174 a0001c0001t0004g0196 a0001c0001t0008g0174	2	298	0.0067	-21	c.927 others(40): Show c.927+22263_927+22283delCTTTCTTTCTTTTCTTTCTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158293	CTTTCTTT others(14): Show CTTTCTTTCTTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0015	a0005c0007t0015g0004 a0005c0007t0015g0005 a0005c0007t0015g0004 a0005c0007t0015g0005	2	298	0.0067	-21	c.927 others(40): Show c.927+22264_927+22284delTTTCTTTCTTTTCTTTCTTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22						chr5	TogoVar
NSD1_chr5_177128773_177305213	177186058	CATATAAT others(14): Show CATATAATATATGTTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0011 a0012c0032t0011	a0012c0032t0011g0109 a0012c0032t0011g0109	1	298	0.0034	-21	c.928 others(38): Show c.928-5820_928-5800delATATATGTTATATATAATATA		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177249568	GCCATTCT others(14): Show GCCATTCTCCTGCCTCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18946.hp1 NA18990.hp2 others(2): Show HG00423.hp2 NA18946.hp1 NA18990.hp2 NA19000.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0034 a0001c0001t0024 a0001c0001t0034	a0001c0001t0024g0156 a0001c0001t0024g0195 a0001c0001t0024g0243 others(2): Show a0001c0001t0024g0156 a0001c0001t0024g0195 a0001c0001t0024g0243 a0001c0001t0034g0235 a0001c0001t0034g0290	5	298	0.0168	-21	c.464 others(40): Show c.4641+1267_4641+1287delCATTCTCCTGCCTCAGCCTCC		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1878239	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0019 a0001c0001t0018 a0001c0002t0019	a0001c0001t0018g0020 a0001c0002t0019g0029 a0001c0001t0018g0020 a0001c0002t0019g0029	2	130	0.0154	-21	c.-30 others(38): Show c.-30+6699_-30+6719delATATATATATATTTTTTTTTT		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1928587	TGTGGTGG others(14): Show TGTGGTGGCTGTCTTGTGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03209.hp1 HG03540.hp2 HG01975.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0028 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0028	3	130	0.0231	-21	c.141 others(40): Show c.1411-2016_1411-1996delTGGTGGCTGTCTTGTGAGGCG		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1951503	CACACACA others(14): Show CACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG03225.hp1 HG00738.hp1 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0122 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0122	3	130	0.0231	-21	c.201 others(38): Show c.2013+302_2013+322delCACACACACACACACACACAA		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174063543	ATTTTATT others(14): Show ATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(47): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 others(46): Show a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0006g0239 a0001c0001t0006g0247 a0001c0001t0006g0251 a0001c0001t0006g0255 a0001c0001t0006g0260 a0001c0001t0009g0268 a0001c0001t0009g0269 a0001c0001t0009g0270 a0001c0001t0024g0272 a0001c0001t0025g0245 a0001c0002t0002g0235	50	294	0.1701	-21	c.130 others(36): Show c.130-685_130-665delTATTTTATTTTATTTTATTTT		NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125170376	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	244	0.0041	-21	c.265 others(40): Show c.265-11708_265-11688delTTTTTTTTTTTTTTTTTTTTT		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125256922	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18955.hp2 NA19005.hp2 NA18953.hp1 NA18955.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0109	3	244	0.0123	-21	c.418 others(40): Show c.418+74683_418+74703delAAAAAAAAAAAAAAAAAAAAA		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSRP1_chr17_30111816_30191475	30122379	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0139 a0001c0001t0001g0140	2	282	0.0071	-21	c.114 others(38): Show c.114+4208_114+4228delATATATTTTTTTTTTTTTTTT		NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NT5C1A_chr1_39646229_39677107	39652030	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02145.hp1 others(10): Show HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0054 a0001c0001t0007 a0001c0001t0023 a0001c0001t0054	a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0130 others(9): Show a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0232 a0001c0001t0023g0009 a0001c0001t0023g0231 a0001c0001t0054g0131	13	326	0.0399	-21	c.70 others(32): Show c.7070_*7090delTTTTTTTTTTTTTTTTTTTTT		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	6/6				7070		chr1	TogoVar
NT5DC1_chr6_116095853_116254497	116241923	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(74): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 others(72): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0112 a0001c0001t0003g0191 a0001c0001t0003g0205 a0001c0001t0003g0233 a0001c0001t0003g0288 a0001c0001t0003g0291 a0001c0001t0004g0040 a0001c0001t0004g0050 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0183 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0249 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0005g0095 a0001c0001t0005g0097 a0001c0001t0005g0099 a0001c0001t0005g0134 a0001c0001t0005g0253 a0001c0001t0005g0256 a0001c0001t0005g0262 a0001c0001t0005g0280 a0001c0001t0008g0008 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0033 a0001c0001t0008g0147 a0001c0001t0008g0194 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0008g0258 a0001c0001t0027g0006 a0001c0001t0028g0027 a0001c0001t0029g0048 a0001c0001t0031g0236	77	300	0.2567	-21	c.125 others(40): Show c.1253-1966_1253-1946delACAAAAAAAAAAAAAAACAAA		NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr6	TogoVar
NTHL1_chr16_2034820_2052834	2048067	TAAGTGGC others(14): Show TAAGTGGCGGTCCCCACGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA18985.hp1 NA18994.hp2 HG03209.hp2 NA18985.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0017 a0001c0001t0001g0064	3	392	0.0077	-21	c.-26 others(30): Show c.-265_-245delGCCCCGTGGGGACCGCCACTT		NTHL1	ENSG00000065057.9	transcript	ENST00000651570.2	protein_coding					234		chr16	TogoVar
NTM_chr11_131365615_132341822	131440816	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	86	0.0116	-21	c.82+ others(38): Show c.82+69956_82+69976delAAAAAAAAAAAAAAAAAAAAA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789488	AAGAGGAA others(14): Show AAGAGGAAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	86	0.0116	-21	c.83- others(40): Show c.83-122074_83-122054delGAGGAAAGAAGAAGAAGAAGA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131862369	CCTGAGGA others(14): Show CCTGAGGAAGGCTTCAACAGAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	86	0.0116	-21	c.83- others(38): Show c.83-49189_83-49169delGAAGGCTTCAACAGAACTGAG		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873541	TATATATA others(14): Show TATATATACATATATATATACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02602.hp1 HG03540.hp2 others(1): Show HG01071.hp2 HG02602.hp1 HG03540.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0014g0080 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0014g0080 a0001c0002t0001g0027	4	86	0.0465	-21	c.83- others(38): Show c.83-38022_83-38002delATATATACATATATATATACC		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NTM_chr11_131365615_132341822	131878595	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03041.hp2 HG03516.hp1 HG01074.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0064 a0001c0001t0004g0043 a0001c0001t0010g0019 a0001c0001t0002g0064 a0001c0001t0004g0043 a0001c0001t0010g0019	3	86	0.0349	-21	c.83- others(38): Show c.83-32968_83-32948delTATATATATATATATATATAT		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NTM_chr11_131365615_132341822	132111063	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01169.hp1 others(27): Show HG00558.hp2 HG00642.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03710.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0007g0007 a0001c0001t0007g0059 a0001c0002t0001g0010 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0002g0065 a0001c0002t0003g0016 a0001c0002t0003g0041 a0001c0002t0003g0073 a0002c0003t0011g0052	30	86	0.3488	-21	c.168 others(40): Show c.168-35192_168-35172delAAAAAAAAAAAAAAAAAAAAA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9146589	TGGGTCTT others(14): Show TGGGTCTTTAGACACACCCTGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG02055.hp1 others(21): Show HG00639.hp2 HG00733.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03688.hp1 NA18522.hp1 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0031 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0003t0001 a0001c0003t0007 a0001c0005t0060	a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0189 others(21): Show a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0189 a0001c0001t0001g0242 a0001c0001t0002g0008 a0001c0001t0002g0159 a0001c0001t0002g0184 a0001c0001t0002g0244 a0001c0001t0003g0046 a0001c0001t0004g0005 a0001c0001t0004g0034 a0001c0001t0004g0256 a0001c0001t0013g0252 a0001c0001t0014g0025 a0001c0001t0014g0041 a0001c0001t0017g0249 a0001c0001t0031g0123 a0001c0001t0035g0158 a0001c0001t0040g0035 a0001c0001t0042g0253 a0001c0001t0046g0007 a0001c0003t0001g0086 a0001c0003t0007g0087 a0001c0005t0060g0108	24	258	0.0930	-21	c.101 others(42): Show c.1019-16200_1019-16180delGTCTTTAGACACACCCTGGGG		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9166149	TCCACCAC others(14): Show TCCACCACCACCACCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG03130.hp2 others(1): Show HG02818.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031	a0001c0001t0001g0076 a0001c0001t0017g0249 a0001c0001t0019g0173 others(1): Show a0001c0001t0001g0076 a0001c0001t0017g0249 a0001c0001t0019g0173 a0001c0001t0031g0123	4	258	0.0155	-21	c.120 others(40): Show c.1207+3188_1207+3208delCCACCACCACCACCACCACCA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9243259	GGGGTCAC others(14): Show GGGGTCACAACCCAGGGAGGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0158 a0001c0001t0035g0158	1	258	0.0039	-21	c.33 others(32): Show c.3300_*3320delACCCAGGGAGGGAGGGTCACA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	7/7				3300	INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669381	TCACCACC others(14): Show TCACCACCACCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 HG01891.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	2	412	0.0049	-21	c.631 others(36): Show c.631+954_631+974delGTGGTGGTGATGGTGGTGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTNG1_chr1_107136039_107489923	107201163	TATTCCCT others(14): Show TATTCCCTAATTCTCACAGATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 HG03471.hp1 HG02486.hp2 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	3	150	0.0200	-21	c.246 others(40): Show c.246+52327_246+52347delTCCCTAATTCTCACAGATAAT		NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK1_chr1_156855865_156886850	156869016	CTCCCTTC others(14): Show CTCCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG01257.hp1 others(5): Show HG00099.hp2 HG01109.hp1 HG01257.hp1 HG01516.hp2 HG02698.hp1 HG02970.hp2 HG03195.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0275 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0275 a0001c0002t0001g0019 a0001c0002t0001g0211 a0001c0002t0001g0221 a0001c0002t0001g0222	8	392	0.0204	-21	c.717 others(36): Show c.717+373_717+393delCTTCCTTCCTTCCTTCCTTCC		NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK2_chr9_84664729_85032054	84758178	AGTCTTTT others(14): Show AGTCTTTTGACTTTTTGATAGT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03704.hp2 homoSapiens_chm13v2.hp1 HG01256.hp2 HG03704.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0049 a0001c0001t0003 a0001c0001t0032 a0001c0001t0049	a0001c0001t0003g0099 a0001c0001t0032g0022 a0001c0001t0049g0096 a0001c0001t0003g0099 a0001c0001t0032g0022 a0001c0001t0049g0096	3	170	0.0177	-21	c.139 others(40): Show c.1396+6102_1396+6122delACTTTTTGATAGTGTCTTTTG		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	88147505	CCTTCTTC others(14): Show CCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01070.hp2 others(48): Show HG00099.hp1 HG00738.hp2 HG01070.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA18978.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013	a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 others(41): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0002t0002 a0001c0002t0013 a0001c0002t0042 a0001c0002t0052 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0017 a0001c0003t0024 a0001c0003t0031 a0001c0003t0048 a0001c0003t0051 a0001c0003t0060 a0001c0003t0075 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0007 a0001c0004t0009 a0001c0004t0019 a0001c0004t0029 a0001c0004t0032 a0001c0004t0034 a0001c0004t0058 a0001c0004t0059 a0001c0004t0067 a0001c0004t0078 a0001c0004t0080 a0001c0006t0006 a0001c0006t0010 a0001c0013t0043	a0001c0001t0006g0080 a0001c0001t0007g0011 a0001c0001t0014g0021 others(48): Show a0001c0001t0006g0080 a0001c0001t0007g0011 a0001c0001t0014g0021 a0001c0002t0002g0030 a0001c0002t0013g0059 a0001c0002t0042g0009 a0001c0002t0052g0010 a0001c0003t0001g0076 a0001c0003t0002g0035 a0001c0003t0003g0041 a0001c0003t0003g0083 a0001c0003t0004g0031 a0001c0003t0004g0098 a0001c0003t0006g0004 a0001c0003t0007g0017 a0001c0003t0009g0033 a0001c0003t0010g0006 a0001c0003t0011g0008 a0001c0003t0011g0116 a0001c0003t0012g0062 a0001c0003t0013g0108 a0001c0003t0016g0022 a0001c0003t0017g0079 a0001c0003t0017g0118 a0001c0003t0024g0043 a0001c0003t0031g0125 a0001c0003t0048g0078 a0001c0003t0051g0042 a0001c0003t0060g0048 a0001c0003t0075g0016 a0001c0004t0001g0023 a0001c0004t0001g0114 a0001c0004t0002g0120 a0001c0004t0003g0110 a0001c0004t0004g0069 a0001c0004t0007g0007 a0001c0004t0009g0032 a0001c0004t0019g0014 a0001c0004t0019g0082 a0001c0004t0029g0056 a0001c0004t0032g0130 a0001c0004t0034g0097 a0001c0004t0058g0115 a0001c0004t0059g0119 a0001c0004t0067g0047 a0001c0004t0078g0086 a0001c0004t0080g0129 a0001c0006t0006g0029 a0001c0006t0010g0111 a0001c0006t0010g0112 a0001c0013t0043g0020	51	134	0.3806	-21	c.396 others(36): Show c.396-123_396-103delAAGAAGAAGAAGAAGAAGAAG		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88197094	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp2 HG02559.hp1 HG01346.hp1 HG02258.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0005 a0001c0001t0015 a0001c0002t0005	a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0005g0102 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0005g0102	3	134	0.0224	-21	c.249 others(40): Show c.249-12816_249-12796delTTTTTTTTTTTTTTTTTTTTT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19						chr15	TogoVar
NUDC_chr1_26916743_26951871	26936157	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0216 a0001c0001t0014g0216	1	254	0.0039	-21	c.160 others(38): Show c.160-5298_160-5278delATATATATTTTTTTTTTTTTT		NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT10_chrX_51327822_51342525	51338103	AAAGGCTA others(14): Show AAAGGCTAAAATTCTGTAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0004 a0002c0055t0004	a0002c0055t0004g0026 a0002c0055t0004g0026	1	306	0.0033	-21	c.18 others(32): Show c.1865_*1885delAAGGCTAAAATTCTGTAAAGG		NUDT10	ENSG00000122824.11	transcript	ENST00000356450.3	protein_coding					579		chrX	TogoVar
NUDT3_chr6_34274679_34397669	34342848	CTACTTCC others(14): Show CTACTTCCTTCTCTGGCCCTTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0068 a0001c0001t0062g0068	1	270	0.0037	-21	c.100 others(36): Show c.100-897_100-877delTAAGGGCCAGAGAAGGAAGTA		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUMA1_chr11_71997864_72085542	72013601	GCCTCCTC others(14): Show GCCTCCTCCCGGAGGCTCTGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp1 HG02723.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0004 a0012c0021t0004	a0012c0021t0004g0134 a0012c0021t0004g0134	1	244	0.0041	-21	c.388 others(30): Show c.3881_3901delTGCAGAGCCTCCGGGAGGAGG	p.Val others(15): Show p.Val1294_Glu1300del	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	15/27	4088/7198	3881/6348	1294/2115			chr11	TogoVar
NUMB_chr14_73270216_73463546	73352501	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	322	0.0031	-21	c.126 others(38): Show c.126+3104_126+3124delTATATATATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352503	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	322	0.0031	-21	c.126 others(38): Show c.126+3102_126+3122delTATATATATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73388742	CACTTGAG others(14): Show CACTTGAGGTCAGGAGTTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0163 a0001c0004t0002g0163	1	322	0.0031	-21	c.-10 others(42): Show c.-101+21174_-101+21194delTGCCAACTCCTGACCTCAAGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12						chr14	TogoVar
NUP160_chr11_47773118_47853350	47782298	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp2 HG04115.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0083 a0002c0002t0001g0021 a0002c0002t0001g0083	2	338	0.0059	-21	c.401 others(38): Show c.4014+754_4014+774delATATATATATATATATTTTTT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35						chr11	TogoVar
NUP160_chr11_47773118_47853350	47782302	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19005.hp2 HG00544.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0097 a0002c0002t0001g0082 a0002c0002t0001g0097	2	338	0.0059	-21	c.401 others(38): Show c.4014+750_4014+770delATATATATATATATATATATT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35						chr11	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02109.hp1 HG02258.hp2 others(9): Show HG00558.hp1 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02895.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp1 NA18964.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 others(9): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0318 a0001c0001t0001g0319	12	338	0.0355	-21	c.401 others(38): Show c.4014+748_4014+768delATATATATATATATATATATA		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35						chr11	TogoVar
NUP54_chr4_76109664_76153397	76129966	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	370	0.0027	-21	c.105 others(38): Show c.1056+669_1056+689delAAAAAAAAAAAAAAAAAAAAA		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107189860	AGGAAGGA others(14): Show AGGAAGGAAAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	280	0.0036	-21	c.-48 others(38): Show c.-48+3148_-48+3168delCTTTTCTTTCTTTTTCCTTCC		NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8						chrX	TogoVar
NUP62_chr19_49901825_49934504	49918894	CTGGGGGG others(14): Show CTGGGGGGGGGGGGGCGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18941.hp1 HG02056.hp2 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0015 a0002c0002t0001 a0002c0002t0015	a0002c0002t0001g0166 a0002c0002t0015g0167 a0002c0002t0001g0166 a0002c0002t0015g0167	2	416	0.0048	-21	c.-78 others(38): Show c.-78+8779_-78+8799delCACCCCGCCCCCCCCCCCCCA		NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2						chr19	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0191 a0001c0003t0002g0198 a0001c0003t0002g0191 a0001c0003t0002g0198	2	276	0.0073	-21	c.-29 others(32): Show c.-2969_-2949delTTTTTTTTTTTTTTTTTTTTT		NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding					2886		chr17	TogoVar
NUTF2_chr16_67841933_67877567	67842881	GCAGCAGC others(14): Show GCAGCAGCAGCAACAGCAGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0019 a0001c0001t0014g0019	1	248	0.0040	-21	c.-41 others(32): Show c.-4133_-4113delCAGCAGCAGCAACAGCAGCAA		NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding					4051		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842902	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp1 NA19240.hp2 HG03041.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0017 a0001c0001t0013g0085 a0001c0001t0009g0017 a0001c0001t0013g0085	3	248	0.0121	-21	c.-41 others(32): Show c.-4112_-4092delCAGCAGCAGCAGCAGCAACAG		NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding					4030		chr16	TogoVar
NUTM2G_chr9_96923843_96944416	96925008	TTACCTTC others(14): Show TTACCTTCTAATCACAAATAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0139 a0001c0017t0001g0139	1	374	0.0027	-21	c.-40 others(32): Show c.-4016_-3996delTACCTTCTAATCACAAATAAC		NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding					3834		chr9	TogoVar

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