Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NTRK1_chr1_156855865_156886850	156869018	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0325 a0001c0016t0001g0325	1	392	0.0026	-12	c.717 others(27): Show c.717+432_717+443delCCTTCCTTCCTT		NTRK1	ENSG00000198400.14	transcript	ENST00000524377.7	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
NTRK2_chr9_84664729_85032054	84742789	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02293.hp2 HG02818.hp2 others(3): Show HG02015.hp1 HG02293.hp2 HG02818.hp2 NA18939.hp2 NA18961.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0126 a0001c0001t0002g0157 a0001c0001t0004g0121 others(3): Show a0001c0001t0001g0126 a0001c0001t0002g0157 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0125 a0001c0001t0010g0115	6	170	0.0353	-12	c.119 others(29): Show c.1195+878_1195+889delTTTTTTTTTTTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84797798	ATAATATA others(5): Show ATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01192.hp1 others(3): Show HG01081.hp1 HG01175.hp2 HG01192.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0057 a0001c0001t0001 a0001c0001t0012 a0001c0001t0057	a0001c0001t0001g0036 a0001c0001t0001g0163 a0001c0001t0001g0164 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0012g0166 a0001c0001t0057g0075	6	170	0.0353	-12	c.139 others(33): Show c.1396+45716_1396+45727delATATATATATTA		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84833585	GAAAGAAA others(5): Show GAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19043.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0157 a0001c0001t0027g0027 a0001c0001t0002g0157 a0001c0001t0027g0027	2	170	0.0118	-12	c.139 others(33): Show c.1397-27445_1397-27434delGAAAAAGAAAGA		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84848079	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG02293.hp1 others(1): Show HG01081.hp2 HG01106.hp2 HG02293.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0022 a0001c0004t0003	a0001c0001t0001g0047 a0001c0001t0007g0086 a0001c0001t0022g0094 others(1): Show a0001c0001t0001g0047 a0001c0001t0007g0086 a0001c0001t0022g0094 a0001c0004t0003g0091	4	170	0.0235	-12	c.139 others(33): Show c.1397-12940_1397-12929delAGAGAGAGAGAG		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84860891	GTTTATTT others(5): Show GTTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG01192.hp1 others(8): Show HG00597.hp2 HG01175.hp2 HG01192.hp1 HG01928.hp2 HG01978.hp2 HG02293.hp2 HG03492.hp2 HG03704.hp2 NA18999.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0049 a0001c0002t0002 a0001c0002t0014 a0001c0004t0002	a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0163 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0003g0099 a0001c0001t0021g0101 a0001c0001t0049g0096 a0001c0002t0002g0057 a0001c0002t0014g0077 a0001c0004t0002g0167	11	170	0.0647	-12	c.139 others(29): Show c.1397-117_1397-106delATTTATTTATTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84924229	TAGAAAGA others(5): Show TAGAAAGAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01256.hp1 others(13): Show HG01106.hp1 HG01255.hp2 HG01256.hp1 HG01928.hp2 HG02109.hp2 HG02683.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18956.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0055 a0001c0001t0059	a0001c0001t0001g0163 a0001c0001t0003g0074 a0001c0001t0003g0099 others(13): Show a0001c0001t0001g0163 a0001c0001t0003g0074 a0001c0001t0003g0099 a0001c0001t0004g0048 a0001c0001t0006g0008 a0001c0001t0006g0018 a0001c0001t0011g0134 a0001c0001t0012g0040 a0001c0001t0015g0137 a0001c0001t0020g0112 a0001c0001t0022g0094 a0001c0001t0028g0152 a0001c0001t0038g0158 a0001c0001t0039g0011 a0001c0001t0055g0064 a0001c0001t0059g0001	16	170	0.0941	-12	c.163 others(31): Show c.1634-9877_1634-9866delAAGAAAGAAAGA		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926102	TTCCTTTC others(5): Show TTCCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	170	0.0059	-12	c.163 others(31): Show c.1634-8058_1634-8047delCCTTTCCTTCCT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926165	CCTTCCTT others(5): Show CCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG03704.hp1 others(2): Show HG02486.hp1 HG02630.hp2 HG03704.hp1 HG04228.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0138 a0001c0001t0002g0140 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0138 a0001c0001t0002g0140 a0001c0001t0006g0053 a0001c0003t0002g0043	5	170	0.0294	-12	c.163 others(31): Show c.1634-7993_1634-7982delCCTTTCTTTCTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84926169	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02818.hp1 HG03492.hp2 others(1): Show HG01255.hp2 HG02818.hp1 HG03492.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0025 a0001c0001t0001g0139 a0001c0001t0004g0121 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0139 a0001c0001t0004g0121 a0001c0001t0011g0134	4	170	0.0235	-12	c.163 others(31): Show c.1634-7940_1634-7929delCTTTCTTTCTTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84949445	GATTTATT others(5): Show GATTTATTTATTT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0011 a0001c0001t0039g0011	1	170	0.0059	-12	c.193 others(29): Show c.1937+840_1937+851delATTTATTTATTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85028983	CTCTTCTT others(5): Show CTCTTCTTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG00735.hp1 others(36): Show HG00621.hp1 HG00642.hp2 HG00735.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02109.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03492.hp2 HG03704.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18956.hp1 NA18988.hp2 NA19005.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0039 a0001c0001t0055 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0005t0001 a0001c0008t0018	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0020 others(36): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0157 a0001c0001t0006g0003 a0001c0001t0006g0053 a0001c0001t0007g0072 a0001c0001t0007g0080 a0001c0001t0007g0082 a0001c0001t0007g0086 a0001c0001t0007g0106 a0001c0001t0010g0115 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0017g0026 a0001c0001t0017g0052 a0001c0001t0039g0011 a0001c0001t0055g0064 a0001c0002t0001g0037 a0001c0002t0006g0156 a0001c0002t0007g0090 a0001c0002t0007g0093 a0001c0003t0001g0014 a0001c0005t0001g0023 a0001c0008t0018g0006	39	170	0.2294	-12	c.75 others(23): Show c.7547_*7558delTCTTCTTTTCTT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding					1930		chr9	TogoVar
NTRK3_chr15_87854751_88261739	87878906	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG02257.hp1 others(3): Show HG01255.hp2 HG01346.hp2 HG02257.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0011 a0001c0003t0010 a0001c0003t0011 others(2): Show a0001c0001t0011 a0001c0003t0010 a0001c0003t0011 a0001c0004t0009 a0001c0006t0010	a0001c0001t0011g0091 a0001c0003t0010g0006 a0001c0003t0011g0116 others(3): Show a0001c0001t0011g0091 a0001c0003t0010g0006 a0001c0003t0011g0116 a0001c0004t0009g0032 a0001c0006t0010g0111 a0001c0006t0010g0112	6	134	0.0448	-12	c.233 others(31): Show c.2334+1352_2334+1363delACACACACACAC		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	19/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	87881406	CTTATTTA others(5): Show CTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG02257.hp2 others(6): Show HG00099.hp2 HG00735.hp1 HG02257.hp2 HG02622.hp1 HG02809.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0026 a0001c0001t0073 a0001c0002t0002 others(5): Show a0001c0001t0026 a0001c0001t0073 a0001c0002t0002 a0001c0002t0025 a0001c0002t0027 a0001c0005t0002 a0001c0005t0018 a0001c0006t0006	a0001c0001t0026g0061 a0001c0001t0073g0044 a0001c0002t0002g0030 others(6): Show a0001c0001t0026g0061 a0001c0001t0073g0044 a0001c0002t0002g0030 a0001c0002t0025g0063 a0001c0002t0027g0122 a0001c0005t0002g0092 a0001c0005t0018g0038 a0001c0005t0018g0040 a0001c0006t0006g0029	9	134	0.0672	-12	c.217 others(29): Show c.2176-990_2176-979delATAAATAAATAA		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	18/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	87912927	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18960.hp2 NA18978.hp1 HG03098.hp2 NA18960.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0053 a0001c0002t0035 a0001c0004t0078 a0001c0001t0053 a0001c0002t0035 a0001c0004t0078	a0001c0001t0053g0113 a0001c0002t0035g0127 a0001c0004t0078g0086 a0001c0001t0053g0113 a0001c0002t0035g0127 a0001c0004t0078g0086	3	134	0.0224	-12	c.213 others(33): Show c.2133+16252_2133+16263delATATATATTTTT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	87925441	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0024 a0001c0001t0045 a0001c0003t0024	a0001c0001t0045g0133 a0001c0003t0024g0043 a0001c0001t0045g0133 a0001c0003t0024g0043	2	134	0.0149	-12	c.213 others(31): Show c.2133+3738_2133+3749delTGTGTGTGTGTG		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88033176	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0108 a0001c0003t0013g0108	1	134	0.0075	-12	c.139 others(29): Show c.1397-143_1397-132delTATATATATATA		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88038808	GCCAGGTT others(5): Show GCCAGGTTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0043 a0001c0003t0024g0043	1	134	0.0075	-12	c.139 others(31): Show c.1397-5775_1397-5764delTTCTCAACCTGG		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88050486	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG01496.hp1 others(11): Show HG00735.hp1 HG01255.hp2 HG01496.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0002c0012	a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 others(10): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0053 a0001c0001t0068 a0001c0003t0010 a0001c0003t0017 a0001c0004t0019 a0001c0004t0067 a0001c0013t0043 a0002c0012t0079	a0001c0001t0005g0003 a0001c0001t0015g0103 a0001c0001t0015g0104 others(11): Show a0001c0001t0005g0003 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0001t0020g0002 a0001c0001t0021g0001 a0001c0001t0026g0061 a0001c0001t0053g0113 a0001c0001t0068g0012 a0001c0003t0010g0006 a0001c0003t0017g0118 a0001c0004t0019g0014 a0001c0004t0067g0047 a0001c0013t0043g0020 a0002c0012t0079g0005	14	134	0.1045	-12	c.139 others(33): Show c.1397-17453_1397-17442delACACACACACAC		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88050558	TACACACA others(5): Show TACACACACTCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02922.hp1 others(4): Show HG02572.hp2 HG02818.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0003 a0001c0003t0003 a0001c0003t0004 others(3): Show a0001c0002t0003 a0001c0003t0003 a0001c0003t0004 a0001c0003t0024 a0001c0003t0051 a0001c0011t0003	a0001c0002t0003g0036 a0001c0002t0003g0095 a0001c0003t0003g0041 others(4): Show a0001c0002t0003g0036 a0001c0002t0003g0095 a0001c0003t0003g0041 a0001c0003t0004g0031 a0001c0003t0024g0043 a0001c0003t0051g0042 a0001c0011t0003g0039	7	134	0.0522	-12	c.139 others(33): Show c.1397-17525_1397-17514delGTGAGTGTGTGT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88147505	CCTTCTTC others(5): Show CCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02145.hp2 HG02258.hp2 others(6): Show HG01346.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG03579.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0015 a0001c0002t0005 a0001c0002t0023 others(2): Show a0001c0001t0015 a0001c0002t0005 a0001c0002t0023 a0001c0002t0071 a0002c0012t0079	a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0005g0025 others(6): Show a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0005g0025 a0001c0002t0005g0028 a0001c0002t0005g0034 a0001c0002t0005g0102 a0001c0002t0023g0026 a0001c0002t0071g0024 a0002c0012t0079g0005	9	134	0.0672	-12	c.396 others(27): Show c.396-114_396-103delAAGAAGAAGAAG		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88155805	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG01884.hp2 HG02559.hp2 HG02622.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0012 a0001c0005 a0002c0012	a0001c0005t0018 a0001c0005t0022 a0002c0012t0079 a0001c0005t0018 a0001c0005t0022 a0002c0012t0079	a0001c0005t0018g0038 a0001c0005t0018g0040 a0001c0005t0022g0037 others(1): Show a0001c0005t0018g0038 a0001c0005t0018g0040 a0001c0005t0022g0037 a0002c0012t0079g0005	4	134	0.0299	-12	c.396 others(29): Show c.396-8414_396-8403delAGATAGATAGAT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88159943	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0054 a0002c0012t0079 a0001c0001t0054 a0002c0012t0079	a0001c0001t0054g0018 a0002c0012t0079g0005 a0001c0001t0054g0018 a0002c0012t0079g0005	2	134	0.0149	-12	c.396 others(31): Show c.396-12552_396-12541delGTGTGTGTGTGT		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	5/19						chr15	TogoVar
NTRK3_chr15_87854751_88261739	88212700	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0020 a0001c0001t0021	a0001c0001t0020g0002 a0001c0001t0021g0001 a0001c0001t0020g0002 a0001c0001t0021g0001	2	134	0.0149	-12	c.249 others(31): Show c.249-28413_249-28402delTGTGTGTGTGTG		NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19						chr15	TogoVar
NTSR1_chr20_62703836_62767771	62750690	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02559.hp2 others(6): Show HG01255.hp2 HG01884.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0021 a0001c0001t0027 a0001c0001t0035 others(4): Show a0001c0001t0021 a0001c0001t0027 a0001c0001t0035 a0001c0001t0048 a0001c0003t0017 a0001c0003t0023 a0001c0008t0025	a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135 others(6): Show a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135 a0001c0001t0035g0214 a0001c0001t0048g0213 a0001c0003t0017g0223 a0001c0003t0017g0224 a0001c0003t0023g0230 a0001c0008t0025g0152	9	316	0.0285	-12	c.715 others(29): Show c.715-3984_715-3973delAAAAAAAAAAAA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767601	GAAAGAAG others(5): Show GAAAGAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA19074.hp2 HG02071.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0137 a0001c0001t0001g0075 a0001c0001t0001g0137	2	316	0.0063	-12	c.73 others(23): Show c.7335_*7346delAAAGAAGAAAGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding					4831		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767605	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02132.hp2 others(5): Show HG00438.hp2 HG02109.hp1 HG02132.hp2 HG02735.hp1 HG03579.hp2 NA18966.hp2 NA18973.hp1 NA18984.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0008c0015t0056	a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0159 a0001c0001t0003g0090 a0001c0001t0006g0077 a0001c0001t0018g0204 a0008c0015t0056g0253	8	316	0.0253	-12	c.73 others(23): Show c.7339_*7350delAAGAAAGAAAGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding					4835		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767670	TGAAGGAA others(5): Show TGAAGGAAGGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01516.hp2 HG01517.hp1 others(8): Show HG00639.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG03540.hp2 NA18979.hp2 NA21309.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0006 a0009c0009 a0001c0001 a0004c0006 a0009c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0050 a0004c0006t0008 a0009c0009t0001	a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0065 others(8): Show a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0004g0168 a0001c0001t0011g0029 a0001c0001t0050g0128 a0004c0006t0008g0080 a0009c0009t0001g0115	11	316	0.0348	-12	c.74 others(23): Show c.7404_*7415delGAAGGAAGGAAG		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding					4900		chr20	TogoVar
NTS_chr12_85869295_85887992	85879409	ATATATTT others(5): Show ATATATTTTTATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG01515.hp1 others(1): Show HG00741.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0057 a0001c0001t0003g0016 a0001c0001t0003g0057	4	420	0.0095	-12	c.360 others(27): Show c.360+849_360+860delTATGTATATTTT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85887668	TTCTGTTT others(5): Show TTCTGTTTTTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-12	c.52 others(23): Show c.5294_*5305delTCTGTTTTTCCA		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding					4677		chr12	TogoVar
NUAK1_chr12_106058345_106143954	106124996	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG01255.hp2 others(12): Show HG00438.hp2 HG01175.hp2 HG01255.hp2 HG02083.hp1 HG02723.hp2 HG03834.hp2 HG03927.hp1 NA18941.hp2 NA18949.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18997.hp1 NA19009.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0004c0017	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0035 a0001c0001t0036 a0001c0001t0057 a0001c0003t0013 a0001c0009t0034 a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 a0004c0017t0002	a0001c0001t0002g0120 a0001c0001t0005g0326 a0001c0001t0007g0127 others(12): Show a0001c0001t0002g0120 a0001c0001t0005g0326 a0001c0001t0007g0127 a0001c0001t0035g0121 a0001c0001t0036g0122 a0001c0001t0057g0250 a0001c0003t0013g0210 a0001c0009t0034g0119 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0015g0161 a0004c0017t0002g0218	15	356	0.0421	-12	c.240 others(31): Show c.240+13406_240+13417delTATTTATTTATT		NUAK1	ENSG00000074590.14	transcript	ENST00000261402.7	protein_coding	1/6						chr12	TogoVar
NUAK2_chr1_205297063_205326745	205321288	ACGCTGGC others(5): Show ACGCTGGCCTCTC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	384	0.0026	-12	c.231 others(26): Show c.231+98_231+109delGAGAGGCCAGCG		NUAK2	ENSG00000163545.11	transcript	ENST00000367157.6	protein_coding	1/6						chr1	TogoVar
NUBP1_chr16_10738842_10774351	10749126	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20805.hp2 HG01891.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0223 a0001c0001t0001g0181 a0001c0001t0001g0223	2	424	0.0047	-12	c.258 others(29): Show c.258+1883_258+1894delACACACACACAC		NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUBPL_chr14_31556404_31866224	31593513	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0264 a0001c0001t0007g0264	1	268	0.0037	-12	c.292 others(29): Show c.292-5763_292-5752delAAAAAAAAAAAA		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31742237	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19005.hp2 NA18950.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0009 a0001c0001t0009g0010	2	268	0.0075	-12	c.514 others(31): Show c.514-45511_514-45500delCACACACACACA		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB1_chr19_48895312_48928372	48899144	AAAAAAAA others(5): Show AAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01074.hp1 others(12): Show HG00140.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG02451.hp1 HG02602.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007	a0001c0002t0001g0098 a0001c0002t0002g0089 a0001c0002t0002g0090 others(12): Show a0001c0002t0001g0098 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0007g0093 a0001c0002t0007g0096	15	398	0.0377	-12	c.-12 others(23): Show c.-1239_-1228delAAAAAAAAAGAG		NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding					1167		chr19	TogoVar
NUCB1_chr19_48895312_48928372	48908648	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01074.hp1 others(10): Show HG00140.hp2 HG00741.hp2 HG01074.hp1 HG01169.hp1 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG02451.hp1 HG02602.hp2 HG03669.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0115 a0001c0002t0002g0089 a0001c0002t0002g0090 others(10): Show a0001c0001t0001g0115 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0007g0093 a0001c0002t0007g0096	13	398	0.0327	-12	c.377 others(29): Show c.377-2462_377-2451delGTGTGTGTGTGT		NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NUCB1_chr19_48895312_48928372	48908721	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02615.hp2 HG01261.hp1 HG02257.hp1 HG02615.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0001c0001t0016 a0006c0012t0001 a0001c0001t0001 a0001c0001t0016 a0006c0012t0001	a0001c0001t0001g0341 a0001c0001t0016g0340 a0006c0012t0001g0339 a0001c0001t0001g0341 a0001c0001t0016g0340 a0006c0012t0001g0339	3	398	0.0075	-12	c.377 others(29): Show c.377-2397_377-2386delGTGTGTGTGTGT		NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NUCB1_chr19_48895312_48928372	48919452	CTTATTTA others(5): Show CTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	398	0.0025	-12	c.100 others(29): Show c.1002+196_1002+207delTATTTATTTATT		NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NUCB1_chr19_48895312_48928372	48921290	GCCGCCTG others(5): Show GCCGCCTGGAGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18992.hp2 NA18992.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0349 a0004c0009t0001g0349	1	398	0.0025	-12	c.114 others(21): Show c.1142_1153delGCCTGGAGGCCC	p.Arg others(13): Show p.Arg381_Ala384del	NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding	11/13	1214/2406	1142/1386	381/461		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUCB2_chr11_17271739_17337211	17288880	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03492.hp2 NA18940.hp2 others(7): Show HG02109.hp2 HG03492.hp2 NA18940.hp2 NA18956.hp2 NA18988.hp1 NA19004.hp2 NA19012.hp1 NA19059.hp1 NA19080.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0356 a0003c0003t0001g0059 a0003c0003t0001g0074 others(7): Show a0001c0001t0001g0356 a0003c0003t0001g0059 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0087 a0003c0003t0001g0097 a0003c0003t0001g0108 a0003c0003t0001g0113	10	360	0.0278	-12	c.-1+ others(27): Show c.-1+5939_-1+5950delTACACACACACA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288882	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18966.hp2 NA20300.hp2 HG02055.hp1 NA18966.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0002c0002t0001g0290 a0001c0001t0001g0273 a0001c0001t0001g0274 a0002c0002t0001g0290	3	360	0.0083	-12	c.-1+ others(27): Show c.-1+5997_-1+6008delCACACACACACA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288940	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	360	0.0028	-12	c.-1+ others(27): Show c.-1+5999_-1+6010delCACACACACATA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288942	CACACACA others(5): Show CACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	360	0.0028	-12	c.-1+ others(27): Show c.-1+6001_-1+6012delCACACACATATA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288944	CACACACA others(5): Show CACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01074.hp1 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0052 a0003c0003t0001g0053	2	360	0.0056	-12	c.-1+ others(27): Show c.-1+6003_-1+6014delCACACATATATA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17309810	TTATTAAT others(5): Show TTATTAATACAGA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(9): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	12	360	0.0333	-12	c.483 others(27): Show c.483+144_483+155delCAGATATTAATA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17324780	CTATTTAT others(5): Show CTATTTATTTATT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(97): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03239.hp2 HG03654.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0008 a0002c0002 a0002c0004 a0002c0008	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0022 others(95): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0063 a0002c0002t0001g0100 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0310 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0326 a0002c0002t0001g0332 a0002c0002t0001g0335 a0002c0002t0001g0340 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0355 a0002c0002t0002g0122 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0004t0001g0311 a0002c0004t0001g0312 a0002c0004t0002g0176 a0002c0004t0002g0225 a0002c0008t0001g0292	100	360	0.2778	-12	c.100 others(31): Show c.1003-5321_1003-5310delATTTATTTATTT		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17336753	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	-12	c.53 others(23): Show c.5335_*5346delAAAAAAAAAAAA		NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding					4543		chr11	TogoVar
NUCKS1_chr1_205707822_205755182	205722033	AAAAAATT others(5): Show AAAAAATTTACTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01070.hp2 others(37): Show HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03669.hp1 HG03831.hp1 HG04204.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0073 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076	a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0015 others(31): Show a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0305 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0101 a0001c0001t0073g0122 a0001c0001t0074g0113 a0001c0001t0076g0111	40	368	0.1087	-12	c.230 others(29): Show c.230-1392_230-1381delAAGTAAATTTTT		NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	4/6						chr1	TogoVar
NUCKS1_chr1_205707822_205755182	205746436	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	368	0.0027	-12	c.17+ others(27): Show c.17+3509_17+3520delGAGAGAGAGAGA		NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	1/6						chr1	TogoVar

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