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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NTN1_chr17_9016510_9249000	9166149	TCCACCAC others(11): Show TCCACCACCACCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01167.hp1 others(22): Show HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01261.hp2 HG02004.hp1 HG02055.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0001t0025 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0052 a0001c0001t0055 a0001c0001t0058 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0122 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0122 a0001c0001t0001g0209 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0159 a0001c0001t0004g0021 a0001c0001t0004g0054 a0001c0001t0004g0210 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0009g0216 a0001c0001t0014g0019 a0001c0001t0022g0245 a0001c0001t0025g0107 a0001c0001t0034g0190 a0001c0001t0037g0246 a0001c0001t0039g0013 a0001c0001t0052g0004 a0001c0001t0055g0009 a0001c0001t0058g0125 a0001c0004t0002g0032 a0001c0004t0002g0066	25	258	0.0969	-18	c.120 others(37): Show c.1207+3191_1207+3208delCCACCACCACCACCACCA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN4_chr12_95652807_95795764	95700080	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	324	0.0031	-18	c.118 others(39): Show c.1180+10343_1180+10360delAAAAAAAAAAAAAAAAAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTN4_chr12_95652807_95795764	95741427	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	324	0.0031	-18	c.586 others(35): Show c.586-3301_586-3284delTATATATATATATATATA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	2/9			chr12	TogoVar
NTN5_chr19_48656407_48678017	48669558	CCACCACC others(11): Show CCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0073 a0001c0015t0001g0073	1	412	0.0024	-18	c.631 others(33): Show c.631+780_631+797delATGGTGGTGATGGTGGTG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTN5_chr19_48656407_48678017	48669954	CCATCACC others(11): Show CCATCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	412	0.0024	-18	c.631 others(33): Show c.631+384_631+401delATGGTGGTGATGGTGATG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTNG2_chr9_132157058_132249526	132162569	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0010 a0001c0001t0013g0009 a0001c0001t0001g0010 a0001c0001t0013g0009	2	358	0.0056	-18	c.-48 others(35): Show c.-484+361_-484+378delGTGTGTGTGTGTGTGTGT	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTNG2_chr9_132157058_132249526	132185821	AGGGAGGA others(11): Show AGGGAGGAGGAGGAGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01106.hp1 others(59): Show HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18967.hp2 NA18986.hp1 NA18999.hp2 NA19043.hp2 NA19063.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0021 a0001c0002t0049 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0004t0002 a0001c0004t0012 a0001c0004t0025 a0001c0004t0041 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0005t0008 a0001c0005t0009 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0031 a0004c0009t0001	a0001c0001t0002g0020 a0001c0001t0002g0182 a0001c0001t0002g0204 others(59): Show a0001c0001t0002g0020 a0001c0001t0002g0182 a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0001t0002g0281 a0001c0001t0002g0348 a0001c0001t0003g0251 a0001c0001t0004g0340 a0001c0001t0005g0103 a0001c0001t0005g0234 a0001c0001t0005g0246 a0001c0001t0011g0231 a0001c0001t0012g0125 a0001c0001t0012g0257 a0001c0001t0016g0224 a0001c0001t0020g0302 a0001c0001t0050g0237 a0001c0001t0051g0236 a0001c0002t0001g0170 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0289 a0001c0002t0002g0107 a0001c0002t0002g0242 a0001c0002t0002g0255 a0001c0002t0002g0272 a0001c0002t0002g0350 a0001c0002t0004g0259 a0001c0002t0004g0345 a0001c0002t0004g0351 a0001c0002t0009g0304 a0001c0002t0021g0230 a0001c0002t0049g0238 a0001c0003t0001g0278 a0001c0003t0002g0248 a0001c0003t0003g0233 a0001c0003t0004g0226 a0001c0003t0006g0222 a0001c0004t0002g0232 a0001c0004t0012g0279 a0001c0004t0025g0225 a0001c0004t0041g0249 a0001c0005t0001g0269 a0001c0005t0001g0270 a0001c0005t0001g0277 a0001c0005t0002g0235 a0001c0005t0002g0290 a0001c0005t0002g0291 a0001c0005t0002g0341 a0001c0005t0006g0218 a0001c0005t0008g0349 a0001c0005t0009g0356 a0001c0006t0001g0271 a0001c0006t0001g0284 a0001c0006t0001g0295 a0001c0006t0002g0072 a0001c0006t0002g0084 a0001c0006t0002g0292 a0001c0006t0002g0354 a0001c0006t0003g0347 a0001c0006t0031g0268 a0004c0009t0001g0355	62	358	0.1732	-18	c.214 others(37): Show c.214-12091_214-12074delTGGGAGGAGGAGGAGGAG	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTNG2_chr9_132157058_132249526	132216410	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0140 a0001c0002t0002g0272 a0001c0001t0001g0140 a0001c0002t0002g0272	2	358	0.0056	-18	c.858 others(37): Show c.858-10437_858-10420delCTCTGTGTGTGTGTGTAT	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTNG2_chr9_132157058_132249526	132216414	CTGTGTGT others(11): Show CTGTGTGTGTGTGTATGTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp2 HG02145.hp1 others(10): Show HG02015.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02976.hp2 HG03139.hp2 NA18939.hp1 NA18963.hp1 NA19084.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0003t0010 a0001c0003t0026 a0001c0004t0002 a0001c0004t0025 a0001c0005t0002	a0001c0001t0002g0204 a0001c0001t0004g0301 a0001c0001t0013g0263 others(10): Show a0001c0001t0002g0204 a0001c0001t0004g0301 a0001c0001t0013g0263 a0001c0001t0013g0264 a0001c0001t0016g0224 a0001c0001t0020g0302 a0001c0002t0001g0262 a0001c0003t0010g0314 a0001c0003t0010g0316 a0001c0003t0026g0308 a0001c0004t0002g0323 a0001c0004t0025g0225 a0001c0005t0002g0235	13	358	0.0363	-18	c.858 others(37): Show c.858-10421_858-10404delATGTGTGTGTGTGTGTGT	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888611	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	170	0.0059	-18	c.163 others(39): Show c.1633+21201_1633+21218delAAAAAAAAAAAAAAAAAA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84894166	GAGAATAT others(11): Show GAGAATATATTTTTATAAC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG02965.hp1 others(1): Show HG01255.hp2 HG02559.hp1 HG02965.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0002t0006	a0001c0001t0011g0134 a0001c0001t0014g0079 a0001c0001t0016g0159 others(1): Show a0001c0001t0011g0134 a0001c0001t0014g0079 a0001c0001t0016g0159 a0001c0002t0006g0156	4	170	0.0235	-18	c.163 others(39): Show c.1633+26737_1633+26754delGAATATATTTTTATAACA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926214	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0001 a0001c0001t0059g0001	1	170	0.0059	-18	c.163 others(37): Show c.1634-7939_1634-7922delTTTCTTTCTTTTTCTTTC	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	87878906	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18978.hp1 HG00738.hp2 NA18978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0078 a0001c0004t0080 a0001c0004t0078 a0001c0004t0080	a0001c0004t0078g0086 a0001c0004t0080g0129 a0001c0004t0078g0086 a0001c0004t0080g0129	2	134	0.0149	-18	c.233 others(37): Show c.2334+1346_2334+1363delACACACACACACACACAC	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	19/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87954007	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp1 others(4): Show HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0040 a0001c0005t0002 others(3): Show a0001c0001t0002 a0001c0001t0040 a0001c0005t0002 a0001c0005t0007 a0001c0005t0018 a0001c0006t0006	a0001c0001t0002g0027 a0001c0001t0040g0075 a0001c0005t0002g0092 others(4): Show a0001c0001t0002g0027 a0001c0001t0040g0075 a0001c0005t0002g0092 a0001c0005t0007g0109 a0001c0005t0018g0038 a0001c0005t0018g0040 a0001c0006t0006g0029	7	134	0.0522	-18	c.158 others(39): Show c.1586-13272_1586-13255delACACACACACACACACAC	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	14/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88033176	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01167.hp1 others(3): Show HG00735.hp2 HG01109.hp1 HG01167.hp1 HG01496.hp2 HG02523.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0041 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0041 a0001c0002t0050 a0001c0002t0072 a0001c0003t0004	a0001c0002t0002g0101 a0001c0002t0004g0060 a0001c0002t0041g0117 others(3): Show a0001c0002t0002g0101 a0001c0002t0004g0060 a0001c0002t0041g0117 a0001c0002t0050g0106 a0001c0002t0072g0045 a0001c0003t0004g0098	6	134	0.0448	-18	c.139 others(35): Show c.1397-149_1397-132delTATATATATATATATATA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88033222	AGTTGTTT others(11): Show AGTTGTTTGGGTTTCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0069 a0001c0004t0004g0069	1	134	0.0075	-18	c.139 others(35): Show c.1397-195_1397-178delACCAGAAACCCAAACAAC	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88147505	CCTTCTTC others(11): Show CCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0070	a0001c0004t0070g0070 a0001c0004t0070g0070	1	134	0.0075	-18	c.396 others(33): Show c.396-120_396-103delAAGAAGAAGAAGAAGAAG	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88159943	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	134	0.0075	-18	c.396 others(37): Show c.396-12558_396-12541delGTGTGTGTGTGTGTGTGT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19			chr15	TogoVar
NUB1_chr7_151336812_151383449	151380401	AGGGCTGC others(11): Show AGGGCTGCTCCACTTGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00609.hp1 others(129): Show HG00099.hp2 HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0004c0010 a0006c0014 a0007c0013 a0010c0008 a0011c0009	a0001c0001t0004 a0001c0002t0001 a0001c0002t0013 others(6): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0013 a0001c0004t0001 a0004c0010t0003 a0006c0014t0001 a0007c0013t0001 a0010c0008t0009 a0011c0009t0009	a0001c0001t0004g0272 a0001c0002t0001g0004 a0001c0002t0001g0009 others(123): Show a0001c0001t0004g0272 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0266 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0334 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0370 a0001c0002t0001g0377 a0001c0002t0001g0378 a0001c0002t0013g0285 a0001c0004t0001g0045 a0001c0004t0001g0063 a0001c0004t0001g0080 a0001c0004t0001g0100 a0001c0004t0001g0116 a0001c0004t0001g0174 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0214 a0001c0004t0001g0360 a0004c0010t0003g0208 a0006c0014t0001g0298 a0007c0013t0001g0169 a0010c0008t0009g0004 a0011c0009t0009g0070	132	418	0.3158	-18	c.31 others(29): Show c.3177_*3194delGGGCTGCTCCACTTGAAG	NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding		1953		chr7	TogoVar
NUBP1_chr16_10738842_10774351	10764052	AGGAGCAT others(11): Show AGGAGCATCTCAGCCCACT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03453.hp1 HG01433.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0089 a0001c0001t0002g0090	2	424	0.0047	-18	c.820 others(35): Show c.820+2202_820+2219delTCAGCCCACTGGAGCATC	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUBPL_chr14_31556404_31866224	31666228	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA21309.hp2 HG03831.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0121 a0001c0001t0003g0008 a0001c0001t0003g0121	2	268	0.0075	-18	c.383 others(35): Show c.383-7109_383-7092delTATATATATATATATATA	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31742237	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01167.hp1 others(16): Show HG00099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01978.hp1 HG02004.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02922.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0003c0006t0009	a0001c0001t0001g0142 a0001c0001t0001g0254 a0001c0001t0002g0128 others(16): Show a0001c0001t0001g0142 a0001c0001t0001g0254 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0006g0014 a0001c0001t0006g0114 a0001c0001t0006g0141 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0252 a0001c0001t0008g0015 a0001c0001t0009g0011 a0001c0001t0012g0146 a0001c0001t0012g0149 a0001c0001t0012g0150 a0001c0001t0012g0198 a0003c0006t0009g0012	19	268	0.0709	-18	c.514 others(37): Show c.514-45517_514-45500delCACACACACACACACACA	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288880	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18973.hp2 HG02129.hp2 NA18973.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0047 a0003c0003t0001g0032 a0003c0003t0001g0047	2	360	0.0056	-18	c.-1+ others(33): Show c.-1+5939_-1+5956delTACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288882	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG02027.hp2 others(7): Show HG00673.hp1 HG01070.hp2 HG02027.hp2 HG02080.hp2 NA18940.hp1 NA18975.hp2 NA18988.hp2 NA18994.hp2 NA19007.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0131 a0001c0001t0002g0191 a0002c0002t0001g0256 others(7): Show a0001c0001t0002g0131 a0001c0001t0002g0191 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0303 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0353	10	360	0.0278	-18	c.-1+ others(33): Show c.-1+5991_-1+6008delCACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCKS1_chr1_205707822_205755182	205707990	GGTTTGTT others(11): Show GGTTTGTTTTTTTTTTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	368	0.0027	-18	c.10 others(31): Show c.10272_*10289delTAAAAAAAAAAAACAAAC	NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding		4831		chr1	TogoVar
NUCKS1_chr1_205707822_205755182	205746443	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0213 a0001c0001t0013g0213	1	368	0.0027	-18	c.17+ others(33): Show c.17+3496_17+3513delTGTGTGTGAGAGAGAGAG	NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	1/6			chr1	TogoVar
NUDT12_chr5_103543855_103567789	103564986	ATCATTTT others(11): Show ATCATTTTGTTATGAGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	438	0.0023	-18	c.-23 others(29): Show c.-2308_-2291delCAACTCATAACAAAATGA	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding		2198		chr5	TogoVar
NUDT14_chr14_105167939_105186312	105181225	GGCGGGGG others(11): Show GGCGGGGGCCGCGAGCTCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00621.hp2 others(160): Show HG00280.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0007g0086 a0001c0003t0002g0079 a0002c0002t0002g0069	163	398	0.4096	-18	c.-34 others(25): Show c.-34_-17delAGAGCTCGCGGCCCCCGC	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	1/5	17		chr14	TogoVar
NUDT14_chr14_105167939_105186312	105181334	GGGGCGGG others(11): Show GGGGCGGGGCGGCCGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18951.hp1 NA18966.hp1 others(3): Show NA18947.hp2 NA18951.hp1 NA18966.hp1 NA18990.hp2 NA19002.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0020 a0001c0001t0002g0068 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0020 a0001c0001t0002g0068 a0001c0001t0002g0084	6	398	0.0151	-18	c.-14 others(27): Show c.-143_-126delACCTCGGCCGCCCCGCCC	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding		23		chr14	TogoVar
NUDT18_chr8_22101878_22114419	22109418	AGAACGCG others(11): Show AGAACGCGGAAGCGCACGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0001 a0001c0001t0019g0001	1	400	0.0025	-18	c.-13 others(27): Show c.-136_-119delGCGTGCGCTTCCGCGTTC	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding	1/3	119		chr8	TogoVar
NUDT1_chr7_2237226_2256145	2238977	TTATATAT others(11): Show TTATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG02615.hp1 others(6): Show HG01109.hp1 HG01346.hp1 HG02615.hp1 HG03041.hp1 HG03130.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0050	9	414	0.0217	-18	c.-32 others(29): Show c.-3291_-3274delTATATATATATATATATA	NUDT1	ENSG00000106268.16	transcript	ENST00000356714.6	protein_coding		3248		chr7	TogoVar
NUDT21_chr16_56424133_56456332	56431739	TTAAAATT others(11): Show TTAAAATTTCGTTTTTCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	414	0.0024	-18	c.95 others(27): Show c.955_*972delGAGAAAAACGAAATTTTA	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	7/7	955		chr16	TogoVar
NUDT21_chr16_56424133_56456332	56435743	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	414	0.0024	-18	c.472 others(33): Show c.472-932_472-915delTATATATATATATATATA	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	4/6			chr16	TogoVar
NUDT2_chr9_34324569_34348699	34346402	ATATATAT others(11): Show ATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01361.hp1 HG01928.hp2 others(8): Show HG01123.hp1 HG01361.hp1 HG01928.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp1 NA18993.hp1 NA19002.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0129	11	436	0.0252	-18	c.29 others(29): Show c.2963_*2980delTATATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2704		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG03486.hp2 others(1): Show HG01884.hp1 HG03209.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0026 a0001c0001t0011 a0001c0001t0026	a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0026g0106 others(1): Show a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0026g0106 a0001c0001t0026g0107	4	270	0.0148	-18	c.211 others(37): Show c.211-12452_211-12435delTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34347921	TGCCAGGA others(11): Show TGCCAGGAGTTCAAGACCA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA20905.hp1 NA18957.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0017g0267 a0001c0001t0017g0268	2	270	0.0074	-18	c.100 others(35): Show c.100-5967_100-5950delTGGTCTTGAACTCCTGGC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93375472	TATATATA others(11): Show TATATATATATATAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	414	0.0024	-18	c.-28 others(29): Show c.-2850_-2833delATATATATATATAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2452		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375474	TATATATA others(11): Show TATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG02080.hp2 others(9): Show HG00280.hp2 HG00609.hp1 HG02080.hp2 HG02132.hp2 HG02258.hp2 HG03516.hp1 NA18522.hp2 NA18945.hp1 NA18978.hp2 NA19000.hp1 NA19009.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0041 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0041 a0001c0001t0042 a0001c0001t0140 a0001c0001t0145 a0001c0001t0146 a0001c0001t0158 a0001c0001t0160 a0001c0001t0199 a0001c0001t0203	a0001c0001t0003g0047 a0001c0001t0004g0036 a0001c0001t0004g0311 others(9): Show a0001c0001t0003g0047 a0001c0001t0004g0036 a0001c0001t0004g0311 a0001c0001t0041g0278 a0001c0001t0042g0035 a0001c0001t0140g0258 a0001c0001t0145g0036 a0001c0001t0146g0037 a0001c0001t0158g0313 a0001c0001t0160g0285 a0001c0001t0199g0044 a0001c0001t0203g0046	12	414	0.0290	-18	c.-28 others(29): Show c.-2848_-2831delATATATATATAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2450		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375476	TATATATA others(11): Show TATATATATAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01943.hp1 HG02129.hp2 others(9): Show HG00558.hp1 HG01943.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG03654.hp1 NA18992.hp1 NA19062.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0039 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0039 a0001c0001t0139 a0001c0001t0144 a0001c0001t0153 a0001c0001t0154 a0001c0001t0159 a0001c0001t0161 a0001c0001t0168	a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0004g0037 others(9): Show a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0004g0037 a0001c0001t0004g0330 a0001c0001t0039g0039 a0001c0001t0139g0272 a0001c0001t0144g0319 a0001c0001t0153g0035 a0001c0001t0154g0261 a0001c0001t0159g0260 a0001c0001t0161g0291 a0001c0001t0168g0039	12	414	0.0290	-18	c.-28 others(29): Show c.-2846_-2829delATATATATAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2448		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375478	TATATATA others(11): Show TATATATAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01934.hp2 HG01952.hp1 others(5): Show HG01070.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02273.hp1 HG02976.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0042 a0001c0001t0249	a0001c0001t0001g0032 a0001c0001t0004g0327 a0001c0001t0007g0326 others(5): Show a0001c0001t0001g0032 a0001c0001t0004g0327 a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0018g0325 a0001c0001t0019g0329 a0001c0001t0042g0314 a0001c0001t0249g0085	8	414	0.0193	-18	c.-28 others(29): Show c.-2844_-2827delATATATAGAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2446		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375480	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02965.hp1 others(2): Show HG02622.hp2 HG02886.hp1 HG02965.hp1 HG03579.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0202 a0001c0001t0003 a0001c0001t0021 a0001c0001t0202	a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0003g0081 others(2): Show a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0003g0081 a0001c0001t0021g0282 a0001c0001t0202g0066	5	414	0.0121	-18	c.-28 others(29): Show c.-2842_-2825delATATAGAGAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2444		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375482	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG02922.hp2 others(3): Show HG00621.hp1 HG01884.hp2 HG02922.hp2 HG03041.hp2 HG04115.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0118 others(1): Show a0001c0001t0003 a0001c0001t0021 a0001c0001t0118 a0001c0001t0178	a0001c0001t0003g0018 a0001c0001t0003g0061 a0001c0001t0021g0279 others(2): Show a0001c0001t0003g0018 a0001c0001t0003g0061 a0001c0001t0021g0279 a0001c0001t0118g0166 a0001c0001t0178g0093	6	414	0.0145	-18	c.-28 others(29): Show c.-2840_-2823delATAGAGAGAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2442		chr12	TogoVar
NUDT4_chr12_93372925_93413146	93375484	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0284 a0001c0001t0175g0284	1	414	0.0024	-18	c.-28 others(29): Show c.-2838_-2821delAGAGAGAGAGAGAGAGAG	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		2440		chr12	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(75): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19030.hp1 NA19056.hp1 NA19064.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0014 a0017 a0019 a0020 a0021	a0001c0001 a0001c0003 a0001c0007 others(12): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0001c0028 a0001c0035 a0004c0009 a0004c0016 a0005c0011 a0014c0027 a0017c0026 a0019c0030 a0020c0031 a0021c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0028t0001 a0001c0035t0001 a0004c0009t0001 a0004c0016t0001 a0005c0011t0001 a0014c0027t0001 a0017c0026t0001 a0019c0030t0001 a0020c0031t0001 a0021c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0095 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0007t0001g0160 a0001c0007t0001g0164 a0001c0007t0001g0168 a0001c0008t0001g0114 a0001c0008t0001g0205 a0001c0008t0001g0214 a0001c0010t0001g0132 a0001c0028t0001g0106 a0001c0035t0001g0128 a0004c0009t0001g0234 a0004c0016t0001g0208 a0005c0011t0001g0162 a0005c0011t0001g0167 a0005c0011t0001g0179 a0014c0027t0001g0159 a0017c0026t0001g0197 a0019c0030t0001g0226 a0020c0031t0001g0161 a0021c0033t0001g0172	78	244	0.3197	-18	c.-32 others(35): Show c.-32-4488_-32-4471delGTGTGTGTGTGTGTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72055965	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG01074.hp1 HG02486.hp2 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03139.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 others(5): Show a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0076 a0003c0004t0001g0077	8	244	0.0328	-18	c.-33 others(37): Show c.-33+13859_-33+13876delGTGTGTGTGTGTGTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73309741	TAATAATA others(11): Show TAATAATAATAATAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0320 a0001c0001t0001g0322	2	322	0.0062	-18	c.234 others(35): Show c.234+6631_234+6648delTTTATTATTATTATTATT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(11): Show CACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18942.hp2 NA18941.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0169 a0001c0001t0004g0164 a0001c0001t0002g0169 a0001c0001t0004g0164	2	322	0.0062	-18	c.126 others(35): Show c.126+3135_126+3152delATATATATATATATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352475	CACATATA others(11): Show CACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18972.hp2 NA18988.hp1 others(1): Show NA18940.hp2 NA18972.hp2 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0185 a0001c0001t0002g0186 others(1): Show a0001c0001t0002g0087 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187	4	322	0.0124	-18	c.126 others(35): Show c.126+3133_126+3150delATATATATATATATATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352477	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp2 NA18957.hp2 others(1): Show HG02602.hp2 HG04204.hp2 NA18957.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0297 a0001c0001t0001g0298	4	322	0.0124	-18	c.126 others(35): Show c.126+3131_126+3148delATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73395037	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	322	0.0062	-18	c.-10 others(39): Show c.-101+14882_-101+14899delCACACACACACACACACA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar

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