Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA21309.hp1 HG00738.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0005 a0001c0001t0010 a0001c0002t0005	a0001c0001t0010g0025 a0001c0002t0005g0103 a0001c0001t0010g0025 a0001c0002t0005g0103	2	16	0.1250	-32	c.336 others(53): Show c.3364+65621_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50761686	TGTTGCCA others(25): Show TGTTGCCAAAAGAGATTAACATTTGAGTCAGTG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0038 a0001c0001t0057g0038	1	116	0.0086	-32	c.833 others(53): Show c.833-138103_833-138072delCACTGACTCAAATGTTAATCTCTT TTGGCAAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78362190	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	23	0.0435	-32	c.757 others(51): Show c.757+64352_757+64383delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79026950	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02922.hp1 HG01884.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0014 a0001c0003t0009 a0001c0009t0003 a0001c0001t0014 a0001c0003t0009 a0001c0009t0003	a0001c0001t0014g0003 a0001c0003t0009g0024 a0001c0009t0003g0017 a0001c0001t0014g0003 a0001c0003t0009g0024 a0001c0009t0003g0017	3	5	0.6000	-32	c.326 others(53): Show c.3262+38833_3262+38864delATATATATATATATATATATATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79740708	TTTTTTAT others(25): Show TTTTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0011 a0001c0002t0015g0011	1	23	0.0435	-32	c.401 others(53): Show c.4014+42773_4014+42804delTTTTATATATATATATATATATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79740710	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG03516.hp2 others(2): Show HG01081.hp1 HG01884.hp2 HG03516.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0010 others(1): Show a0001c0001 a0001c0004 a0001c0010 a0002c0005	a0001c0001t0008 a0001c0001t0010 a0001c0004t0005 others(2): Show a0001c0001t0008 a0001c0001t0010 a0001c0004t0005 a0001c0010t0001 a0002c0005t0005	a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0004t0005g0002 others(2): Show a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0004t0005g0002 a0001c0010t0001g0012 a0002c0005t0005g0004	5	12	0.4167	-32	c.401 others(53): Show c.4014+42775_4014+42806delTTATATATATATATATATATATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79754503	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp2 HG03453.hp2 others(1): Show HG01884.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0004 a0001c0003t0009 others(1): Show a0001c0001t0013 a0001c0003t0004 a0001c0003t0009 a0001c0003t0012	a0001c0001t0013g0007 a0001c0003t0004g0015 a0001c0003t0009g0024 others(1): Show a0001c0001t0013g0007 a0001c0003t0004g0015 a0001c0003t0009g0024 a0001c0003t0012g0019	4	9	0.4444	-32	c.401 others(53): Show c.4015-50580_4015-50549delATATATATATATATATATATATAT ATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79803901	ATATATAT others(25): Show ATATATATATATGTATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	-32	c.401 others(51): Show c.4015-1186_4015-1155delTGTGTGTGTATATATATATGTATATA TATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG02630.hp1 others(5): Show HG00741.hp2 HG01167.hp2 HG02630.hp1 HG02735.hp2 HG02976.hp1 NA18944.hp1 NA19000.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0115 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0004g0072 a0001c0001t0017g0053 a0001c0006t0001g0058	8	27	0.2963	-32	c.201 others(49): Show c.2013+290_2013+321delCACACACACACACACACACACACACACA CACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSRP1_chr17_30111816_30191475	30122371	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp1 others(15): Show HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01192.hp1 HG01346.hp1 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0017 a0001c0002 a0009c0017	a0001c0002t0003 a0009c0017t0003 a0001c0002t0003 a0009c0017t0003	a0001c0002t0003g0016 a0001c0002t0003g0027 a0001c0002t0003g0028 others(15): Show a0001c0002t0003g0016 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0111 a0009c0017t0003g0079	18	279	0.0645	-32	c.114 others(49): Show c.114+4200_114+4231delATATATATATATATTTTTTTTTTTTTTT TTTT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSUN7_chr4_40744955_40816184	40757544	TATATATA others(25): Show TATATATAAAAATTATATATATATATAAATTGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02965.hp2 others(5): Show HG02280.hp2 HG02630.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2	a0004 a0004	a0004c0004 a0004c0014 a0004c0004 a0004c0014	a0004c0004t0008 a0004c0004t0046 a0004c0014t0008 a0004c0004t0008 a0004c0004t0046 a0004c0014t0008	a0004c0004t0008g0068 a0004c0004t0008g0069 a0004c0004t0008g0070 others(5): Show a0004c0004t0008g0068 a0004c0004t0008g0069 a0004c0004t0008g0070 a0004c0004t0008g0071 a0004c0004t0008g0072 a0004c0004t0008g0073 a0004c0004t0046g0067 a0004c0014t0008g0046	8	390	0.0205	-32	c.299 others(49): Show c.299-2882_299-2851delAAAATTATATATATATATAAATTGCATA TATA	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NTM_chr11_131365615_132341822	132134705	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	12	0.0833	-32	c.168 others(51): Show c.168-11553_168-11522delATATATATATATATATATATATATAT ATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9226410	CCGTGGGG others(25): Show CCGTGGGGAGGCGGTCTCGTGGGGAGGCGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0007g0049 a0001c0001t0007g0051	2	256	0.0078	-32	c.148 others(51): Show c.1486+5180_1486+5211delGGTCTCGTGGGGAGGCGGTCTCGTGG GGAGGC	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK2_chr9_84664729_85032054	84926157	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0118 a0001c0001t0019g0118	1	144	0.0069	-32	c.163 others(51): Show c.1634-8001_1634-7970delCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926161	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	141	0.0071	-32	c.163 others(51): Show c.1634-7997_1634-7966delCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	88212700	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG02622.hp2 others(4): Show HG01255.hp2 HG01496.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0014 a0001c0003t0007 a0001c0003t0010 others(3): Show a0001c0001t0014 a0001c0003t0007 a0001c0003t0010 a0001c0004t0067 a0001c0005t0002 a0001c0006t0010	a0001c0001t0014g0046 a0001c0003t0007g0017 a0001c0003t0010g0006 others(4): Show a0001c0001t0014g0046 a0001c0003t0007g0017 a0001c0003t0010g0006 a0001c0004t0067g0047 a0001c0005t0002g0092 a0001c0006t0010g0111 a0001c0006t0010g0112	7	14	0.5000	-32	c.249 others(51): Show c.249-28433_249-28402delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NUCB2_chr11_17271739_17337211	17288920	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	358	0.0028	-32	c.-1+ others(47): Show c.-1+5979_-1+6010delCACACACACACACACACACACACACACACA TA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT1_chr7_2237226_2256145	2238971	TAATAATT others(25): Show TAATAATTATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	412	0.0024	-32	c.-32 others(43): Show c.-3297_-3266delAATAATTATATATATATATATATATATATATA	NUDT1	ENSG00000106268.16	transcript	ENST00000356714.6	protein_coding		3254		chr7	TogoVar
NUDT22_chr11_64221274_64235016	64233547	CCGATTTT others(25): Show CCGATTTTCTATAGCAGATACCTAAAGGCCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-32	c.35 others(43): Show c.3558_*3589delCGATTTTCTATAGCAGATACCTAAAGGCCAGT	NUDT22	ENSG00000149761.9	transcript	ENST00000279206.8	protein_coding		3532		chr11	TogoVar
NUDT2_chr9_34324569_34348699	34346388	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG02451.hp1 others(5): Show HG00408.hp2 HG01243.hp1 HG02451.hp1 HG03098.hp2 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0099	8	434	0.0184	-32	c.29 others(43): Show c.2949_*2980delTATATATATATATATATATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2690		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG03516.hp2 others(1): Show HG02572.hp1 HG02970.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0044 a0001c0001t0011 a0001c0001t0044	a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0011g0085 others(1): Show a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0011g0085 a0001c0001t0044g0086	4	5	0.8000	-32	c.211 others(51): Show c.211-12466_211-12435delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT7_chr16_77717514_77747260	77729951	ACTCACAT others(25): Show ACTCACATAGTAACATATTACCACACACATTAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00733.hp1 others(67): Show HG00140.hp1 HG00438.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01358.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0163 others(48): Show a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0292 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0255 a0001c0001t0003g0263 a0002c0002t0001g0034 a0002c0002t0001g0058 a0002c0002t0001g0164 a0002c0002t0001g0217 a0002c0002t0001g0221 a0002c0002t0001g0291 a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0050 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0071 a0003c0003t0001g0073 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0166 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0205 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0214 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0004g0003 a0003c0003t0004g0061 a0003c0003t0004g0146 a0003c0003t0004g0148 a0003c0003t0004g0149 a0004c0004t0001g0003 a0004c0004t0001g0215	70	460	0.1522	-32	c.189 others(49): Show c.189+4387_189+4418delCCACACACATTACCTCACATAGTAACAT ATTA	NUDT7	ENSG00000140876.11	transcript	ENST00000268533.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01975.hp1 HG03831.hp2 others(3): Show HG00738.hp2 HG01975.hp1 HG03831.hp2 NA18985.hp2 NA18986.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 others(3): Show a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0010g0082	6	11	0.5455	-32	c.-32 others(49): Show c.-32-4502_-32-4471delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(25): Show CACATACACACACACACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01934.hp2 others(3): Show HG01081.hp2 HG01099.hp1 HG01934.hp2 HG02083.hp1 HG02293.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(3): Show a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0003g0054	6	288	0.0208	-32	c.126 others(49): Show c.126+3139_126+3170delATATATATATGTGTGTGTGTGTGTGTGT ATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352457	CATACACA others(25): Show CATACACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	311	0.0032	-32	c.126 others(49): Show c.126+3137_126+3168delATATATATATATGTGTGTGTGTGTGTGT GTAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	230	0.0043	-32	c.126 others(49): Show c.126+3121_126+3152delATATATATATATATATATATATATATAT GTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352475	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02895.hp1 others(4): Show HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 others(4): Show a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322	7	271	0.0258	-32	c.126 others(49): Show c.126+3119_126+3150delATATATATATATATATATATATATATAT ATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352477	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG03209.hp2 others(2): Show HG01496.hp2 HG01884.hp1 HG03209.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318	5	263	0.0190	-32	c.126 others(49): Show c.126+3117_126+3148delATATATATATATATATATATATATATAT ATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP107_chr12_68681978_68750809	68717108	GGCTGGTC others(25): Show GGCTGGTCTCAAACTCCTGAGCTCAGGCAGTCC	G G	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	396	0.0025	-32	c.108 others(51): Show c.1083+1371_1083+1402delTGGTCTCAAACTCCTGAGCTCAGGCA GTCCGC	NUP107	ENSG00000111581.10	transcript	ENST00000229179.9	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP210L_chr1_153987690_154160073	154125622	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp2 HG01975.hp2 others(12): Show HG00621.hp2 HG01069.hp2 HG01975.hp2 HG02071.hp2 NA18612.hp2 NA18963.hp2 NA18971.hp2 NA18980.hp1 NA18984.hp2 NA19056.hp1 NA19057.hp2 NA19067.hp2 NA19070.hp2 NA19081.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0181 others(12): Show a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0181 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0132 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0180	15	37	0.4054	-32	c.132 others(49): Show c.1326+669_1326+700delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125707	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0224 a0001c0008t0001g0224	1	247	0.0040	-32	c.132 others(49): Show c.1326+584_1326+615delCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP54_chr4_76109664_76153397	76125284	AAACAAAA others(25): Show AAACAAAAAACAAAAAACAGAGTGAGACTCCAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01934.hp2 others(21): Show HG00597.hp2 HG01099.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG03831.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18992.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0007 a0002c0002t0003g0012 others(12): Show a0002c0002t0003g0001 a0002c0002t0003g0007 a0002c0002t0003g0012 a0002c0002t0003g0033 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0043 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0065 a0002c0002t0003g0069 a0002c0002t0003g0071 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0078	24	368	0.0652	-32	c.105 others(49): Show c.1057-560_1057-529delATGGAGTCTCACTCTGTTTTTTGTTTTT TGTT	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107152139	TATATATA others(25): Show TATATATATTCAGATATATATATATATATTCAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	278	0.0036	-32	c.530 others(49): Show c.530+1001_530+1032delCTGAATATATATATATATATCTGAATAT ATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107184291	AAAGAGAA others(25): Show AAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0074 a0004c0004t0002g0074	1	157	0.0064	-32	c.-48 others(49): Show c.-48+8706_-48+8737delCTTTCTTTCTTTCTTTCTTTCTTTCTTC TCTT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP85_chr17_75200679_75240758	75212228	GGTTTTTT others(25): Show GGTTTTTTTTTTTGTTGTTGTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(64): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG03225.hp1 HG03491.hp2 HG03710.hp2 HG04204.hp2 NA18946.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19009.hp1 NA19009.hp2 NA19064.hp1 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0009 a0003c0012	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0002c0009t0001 a0003c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 others(60): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0003t0002g0017 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0185 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0005t0002g0167 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0171 a0001c0005t0002g0187 a0001c0005t0002g0208 a0002c0009t0001g0036 a0003c0012t0001g0168	67	126	0.5317	-32	c.361 others(47): Show c.361+167_361+198delGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT TT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18			chr17	TogoVar
NUP98_chr11_3670019_3802554	3702309	ACACACTC others(25): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp1 HG02965.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0310 a0001c0001t0001g0068 a0001c0001t0001g0310	2	331	0.0060	-32	c.351 others(49): Show c.3512+122_3512+153delAGAGAGAGAGAGAGAGAGAGAGAGAGAG TGTG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NXF2B_chrX_102355395_102445008	102412528	GAAGAAGA others(25): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	53	0.0189	-32	c.-54 others(51): Show c.-54+25993_-54+26024delTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXN_chr17_794310_984776	842998	GAGAAAGA others(25): Show GAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	205	0.0049	-32	c.361 others(51): Show c.361-16952_361-16921delTTCTTTCTTTCTTTCTTTCTTTCTCT CTTTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0017 a0008c0010t0017	a0008c0010t0017g0023 a0008c0010t0017g0023	2	57	0.0351	-32	c.100 others(49): Show c.100-9961_100-9930delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114577054	TATACATA others(25): Show TATACATATATATATATAAAGTTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0096 a0003c0003t0002g0096	1	430	0.0023	-32	c.109 others(51): Show c.1099+3046_1099+3077delGTATATATATAACTTTATATATATAT ATGTAT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPH1_chr7_8428609_8757961	8655396	GTCTTTCT others(25): Show GTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01928.hp1 others(23): Show HG00639.hp2 HG01346.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02148.hp1 HG02293.hp2 HG02976.hp2 HG03490.hp1 HG03669.hp2 NA18612.hp1 NA18950.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18989.hp1 NA18994.hp2 NA19003.hp1 NA19004.hp2 NA19060.hp1 NA19064.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0030 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0002g0196 a0001c0001t0003g0033 a0001c0001t0003g0173 a0001c0001t0004g0074 a0001c0001t0007g0001 a0001c0001t0007g0039 a0001c0001t0007g0193 a0001c0001t0011g0002	26	125	0.2080	-32	c.55- others(49): Show c.55-95608_55-95577delTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH2_chr2_138664157_138785390	138757813	TTATCTAT others(25): Show TTATCTATCTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01106.hp1 others(5): Show HG00140.hp1 HG00280.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0260 a0001c0001t0002g0322 a0001c0001t0002g0324 others(5): Show a0001c0001t0002g0260 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0003g0323 a0001c0001t0007g0259 a0001c0001t0007g0326	8	41	0.1951	-32	c.51+ others(49): Show c.51+22346_51+22377delGATAGATAGATAGATAGATAGATAGATA GATA	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225538778	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	137	0.0073	-32	c.523 others(51): Show c.523+25146_523+25177delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OBP2A_chr9_135541126_135554969	135548977	ACTCTGGG others(25): Show ACTCTGGGCTGCGATGCGGTCTGGGGCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 NA19086.hp2 others(1): Show HG01109.hp2 HG03225.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0002 a0001c0019 a0002c0002	a0001c0019t0002 a0002c0002t0002 a0001c0019t0002 a0002c0002t0002	a0001c0019t0002g0101 a0002c0002t0002g0048 a0002c0002t0002g0060 others(1): Show a0001c0019t0002g0101 a0002c0002t0002g0048 a0002c0002t0002g0060 a0002c0002t0002g0090	4	178	0.0225	-32	c.490 others(47): Show c.490+184_490+215delCGGTCTGGGGCTCCGCGCTCTGGGCTGCGA TG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OBP2A_chr9_135541126_135554969	135548993	CGGTCTGG others(25): Show CGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03927.hp2 HG01167.hp1 HG01169.hp2 HG03927.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0017 a0001c0001 a0016c0017	a0001c0001t0001 a0016c0017t0001 a0001c0001t0001 a0016c0017t0001	a0001c0001t0001g0029 a0016c0017t0001g0040 a0001c0001t0001g0029 a0016c0017t0001g0040	3	181	0.0166	-32	c.491 others(46): Show c.491-110_491-79delCGCGCTCTGGGCTGCGATGGGGTCTGGGGCT C	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OBP2A_chr9_135541126_135554969	135549203	TCTGGGCT others(25): Show TCTGGGCTGCGATGGGGTCTGGGGCTCTGAGCC	T T	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	-32	c.491 others(45): Show c.491-82_491-51delGCTCTGAGCCCTGGGCTGCGATGGGGTCTGGG	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OBP2B_chr9_133200279_133214250	133206029	GCCCATCG others(25): Show GCCCATCGCAGCCCAGAGCGCGGAGCCCCAGAC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	446	0.0022	-32	c.491 others(46): Show c.491-121_491-90delGTCTGGGGCTCCGCGCTCTGGGCTGCGATGG G	OBP2B	ENSG00000171102.16	transcript	ENST00000372034.8	protein_coding	5/6			chr9	TogoVar
OC90_chr8_132019216_132064382	132028551	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02615.hp2 others(12): Show HG00609.hp1 HG01884.hp1 HG02615.hp2 HG02886.hp2 HG03041.hp1 HG03195.hp2 HG03927.hp1 HG03927.hp2 NA18951.hp2 NA18980.hp1 NA18985.hp2 NA18999.hp1 NA19002.hp2 NA19065.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0016 a0001c0002 a0004c0016	a0001c0002t0001 a0001c0002t0002 a0004c0016t0002 a0001c0002t0001 a0001c0002t0002 a0004c0016t0002	a0001c0002t0001g0063 a0001c0002t0002g0011 a0001c0002t0002g0014 others(3): Show a0001c0002t0001g0063 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0184 a0001c0002t0002g0185 a0004c0016t0002g0183	15	406	0.0369	-32	c.113 others(49): Show c.1138+490_1138+521delCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27870667	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03453.hp1 HG01099.hp2 HG03453.hp1	a0008 a0010 a0008 a0010	a0008c0023 a0010c0022 a0008c0023 a0010c0022	a0008c0023t0001 a0010c0022t0001 a0008c0023t0001 a0010c0022t0001	a0008c0023t0001g0093 a0010c0022t0001g0102 a0008c0023t0001g0093 a0010c0022t0001g0102	2	37	0.0541	-32	c.224 others(49): Show c.2244+455_2244+486delTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTC	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	21/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27913892	AAAGCAAG others(25): Show AAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 NA18946.hp2 others(1): Show HG01943.hp1 HG01943.hp2 NA18946.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0035 a0003c0012 others(1): Show a0001c0006 a0001c0035 a0003c0012 a0003c0013	a0001c0006t0001 a0001c0035t0001 a0003c0012t0001 others(1): Show a0001c0006t0001 a0001c0035t0001 a0003c0012t0001 a0003c0013t0001	a0001c0006t0001g0051 a0001c0035t0001g0011 a0003c0012t0001g0028 others(1): Show a0001c0006t0001g0051 a0001c0035t0001g0011 a0003c0012t0001g0028 a0003c0013t0001g0069	4	80	0.0500	-32	c.207 others(53): Show c.2079+12203_2079+12234delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar

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