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
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01069.hp1 others(46): Show HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02717.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03491.hp2 HG03704.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18949.hp2 NA18954.hp2 NA18961.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0009 a0001c0003 a0002c0001 a0002c0009	a0001c0003t0001 a0002c0001t0001 a0002c0009t0001 a0001c0003t0001 a0002c0001t0001 a0002c0009t0001	a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0108 others(31): Show a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0114 a0002c0001t0001g0005 a0002c0001t0001g0007 a0002c0001t0001g0021 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0140 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0176 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0187 a0002c0001t0001g0189 a0002c0001t0001g0192 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0200 a0002c0001t0001g0235 a0002c0001t0001g0237 a0002c0001t0001g0239 a0002c0009t0001g0186	49	368	0.1332	19	c.499 others(36): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAA	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTTATATA others(12): Show TTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	244	0.0041	19	c.-32 others(38): Show c.-32-13585_-32-13584insTATATATATATATATATAA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	244	0.0041	19	c.-32 others(38): Show c.-32-13586_-32-13585insATATATATATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72074194	C C	CAAAACAA others(12): Show CAAAACAAAAACAAAGACAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19056.hp1 NA18993.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	244	0.0082	19	c.-10 others(38): Show c.-102-4284_-102-4283insTTGTCTTTGTTTTTGTTTT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	1/26			chr11	TogoVar
NUMBL_chr19_40660905_40695651	40680183	G G	GTGACACC others(12): Show GTGACACCAGTGCACCAGGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18998.hp1 NA19001.hp1 others(1): Show NA18947.hp1 NA18998.hp1 NA19001.hp1 NA19058.hp1	a0001 a0008 a0001 a0008	a0001c0006 a0008c0015 a0001c0006 a0008c0015	a0001c0006t0004 a0001c0006t0009 a0008c0015t0004 a0001c0006t0004 a0001c0006t0009 a0008c0015t0004	a0001c0006t0004g0212 a0001c0006t0004g0213 a0001c0006t0009g0210 others(1): Show a0001c0006t0004g0212 a0001c0006t0004g0213 a0001c0006t0009g0210 a0008c0015t0004g0211	4	414	0.0097	19	c.540 others(34): Show c.540+733_540+734insGCCTGGTGCACTGGTGTCA	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	6/9			chr19	TogoVar
NUMB_chr14_73270216_73463546	73313668	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04115.hp2 HG01361.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0288 a0001c0001t0001g0272 a0001c0001t0001g0288	2	322	0.0062	19	c.234 others(36): Show c.234+2721_234+2722insTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTCT others(12): Show GTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18940.hp2 HG02055.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0186 a0001c0001t0002g0078 a0001c0001t0002g0186	2	322	0.0062	19	c.126 others(36): Show c.126+2553_126+2554insAAAAAAAAAAAAAGAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03710.hp1 NA18972.hp1 HG02148.hp2 HG03710.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0061	3	322	0.0093	19	c.126 others(36): Show c.126+2535_126+2553dupAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73389272	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	322	0.0031	19	c.-10 others(40): Show c.-101+20646_-101+20664dupTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0124 a0003c0003t0006g0127 a0003c0003t0006g0124 a0003c0003t0006g0127	2	276	0.0073	19	c.22 others(30): Show c.2231_*2232insATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA18967.hp2 NA18977.hp2 others(1): Show HG00741.hp1 NA18967.hp2 NA18977.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0228 a0002c0002t0002g0235 others(1): Show a0002c0002t0002g0223 a0002c0002t0002g0228 a0002c0002t0002g0235 a0002c0002t0002g0246	4	276	0.0145	19	c.22 others(30): Show c.2231_*2232insAAATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0129 a0003c0003t0006g0129	1	276	0.0036	19	c.22 others(30): Show c.2231_*2232insAAAAATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18612.hp2 NA18961.hp1 others(3): Show HG01975.hp2 NA18612.hp2 NA18961.hp1 NA18986.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0135 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0040g0155	6	300	0.0200	19	c.393 others(36): Show c.3930+305_3930+323dupTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP210L_chr1_153987690_154160073	154006966	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	290	0.0035	19	c.493 others(38): Show c.4930+3005_4930+3006insAAATATATATATATATATA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	35/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154055176	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18960.hp2 HG02683.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0115 a0002c0002t0001g0080 a0002c0002t0001g0115	2	290	0.0069	19	c.324 others(36): Show c.3241-345_3241-344insGAAAGAAAGAAAGAAAGAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	23/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13401259	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	326	0.0031	19	c.168 others(36): Show c.168-1417_168-1399dupTTTTTTTTTTTTTTTTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	1/39			chr3	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18969.hp2 NA19091.hp1 HG00639.hp2 NA18969.hp2 NA19091.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0019 a0002c0002 a0009c0019	a0002c0002t0001 a0009c0019t0001 a0002c0002t0001 a0009c0019t0001	a0002c0002t0001g0011 a0002c0002t0001g0164 a0009c0019t0001g0141 a0002c0002t0001g0011 a0002c0002t0001g0164 a0009c0019t0001g0141	3	234	0.0128	19	c.365 others(38): Show c.3659+1352_3659+1370dupTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCCTCC others(12): Show TCCCCTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	234	0.0043	19	c.372 others(36): Show c.3721+735_3721+736insTCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131196025	T T	TCCCTCCC others(12): Show TCCCTCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18522.hp1 HG01943.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0018 a0005c0008t0001g0109 a0001c0001t0001g0018 a0005c0008t0001g0109	2	234	0.0086	19	c.372 others(36): Show c.3721+734_3721+735insTCCCCCCCCCCCCCCCCCC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131206148	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(45): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02723.hp2 HG02735.hp2 HG02897.hp2 HG02970.hp1 HG03239.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18991.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19080.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0011	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0002c0002 a0002c0003 a0002c0016 a0003c0011 a0003c0013 a0006c0012 a0008c0014 a0011c0021	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 a0002c0002t0001 a0002c0003t0001 a0002c0016t0001 a0003c0011t0001 a0003c0013t0001 a0006c0012t0001 a0008c0014t0001 a0011c0021t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 others(45): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0007g0046 a0001c0004t0001g0138 a0001c0004t0001g0204 a0001c0006t0001g0182 a0001c0007t0001g0089 a0001c0015t0001g0047 a0002c0002t0001g0011 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0172 a0002c0002t0001g0178 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0003t0001g0043 a0002c0003t0001g0094 a0002c0016t0001g0101 a0003c0011t0001g0177 a0003c0011t0001g0192 a0003c0013t0001g0040 a0006c0012t0001g0006 a0006c0012t0001g0007 a0008c0014t0001g0100 a0011c0021t0001g0181	48	234	0.2051	19	c.559 others(38): Show c.5592+4445_5592+4446insTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03704.hp1 HG04184.hp2 others(1): Show HG03669.hp2 HG03704.hp1 HG04184.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0038 a0001c0001t0002g0270 a0001c0001t0002g0271	4	402	0.0100	19	c.397 others(36): Show c.397+4647_397+4648insATATATATATTTTTTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp1 NA19056.hp1 others(1): Show NA18944.hp2 NA18960.hp1 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0040 a0001c0001t0002g0275 a0001c0001t0002g0276	4	402	0.0100	19	c.397 others(36): Show c.397+4647_397+4648insATATATATTTTTTTTTTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP54_chr4_76109664_76153397	76125764	A A	AGAGGGAG others(12): Show AGAGGGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	370	0.0027	19	c.105 others(38): Show c.1057-1009_1057-1008insCTCTCCCCCTCTCTCCCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP58_chr13_25296625_25347421	25305130	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0075 a0001c0005t0001g0075	1	350	0.0029	19	c.108 others(36): Show c.108-2663_108-2645dupTTTTTTTTTTTTTTTTTTT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP88_chr17_5379833_5424662	5383738	A A	ATTTCCCT others(12): Show ATTTCCCTTGCTCAGTACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0002c0005 a0003c0006 a0004c0017 a0005c0008 a0006c0015 a0007c0012 a0008c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0017 a0001c0003t0001 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0003t0019 a0001c0004t0002 a0001c0004t0006 a0001c0007t0007 a0001c0009t0006 a0001c0010t0001 a0001c0011t0003 a0001c0013t0005 a0002c0005t0001 a0003c0006t0011 a0004c0017t0008 a0005c0008t0001 a0006c0015t0005 a0007c0012t0002 a0008c0014t0005	a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 others(236): Show a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0241 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0215 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0009g0011 a0001c0001t0014g0255 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0004g0004 a0001c0002t0004g0006 a0001c0002t0004g0009 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0082 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0161 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0107 a0001c0002t0005g0117 a0001c0002t0005g0118 a0001c0002t0005g0119 a0001c0002t0005g0120 a0001c0002t0005g0121 a0001c0002t0005g0122 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0005g0125 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0154 a0001c0002t0005g0159 a0001c0002t0005g0160 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0169 a0001c0002t0005g0186 a0001c0002t0007g0116 a0001c0002t0007g0197 a0001c0002t0007g0198 a0001c0002t0007g0284 a0001c0002t0008g0158 a0001c0002t0008g0162 a0001c0002t0008g0163 a0001c0002t0008g0164 a0001c0002t0010g0192 a0001c0002t0010g0193 a0001c0002t0010g0194 a0001c0002t0012g0039 a0001c0002t0017g0051 a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0185 a0001c0003t0001g0283 a0001c0003t0013g0182 a0001c0003t0016g0079 a0001c0003t0018g0064 a0001c0003t0019g0073 a0001c0004t0002g0213 a0001c0004t0006g0188 a0001c0004t0006g0189 a0001c0004t0006g0190 a0001c0004t0006g0191 a0001c0004t0006g0285 a0001c0007t0007g0195 a0001c0007t0007g0196 a0001c0009t0006g0187 a0001c0010t0001g0113 a0001c0011t0003g0201 a0001c0013t0005g0130 a0002c0005t0001g0057 a0002c0005t0001g0058 a0002c0005t0001g0059 a0003c0006t0011g0014 a0004c0017t0008g0287 a0005c0008t0001g0032 a0006c0015t0005g0133 a0007c0012t0002g0205 a0008c0014t0005g0134	302	370	0.8162	19	c.24 others(30): Show c.2467_*2468insATGTACTGAGCAAGGGAAA	NUP88	ENSG00000108559.13	transcript	ENST00000573584.6	protein_coding		1094		chr17	TogoVar
NUP93_chr16_56725129_56855286	56808479	T T	TATAGTTA others(12): Show TATAGTTATGTAACTATAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0016 a0001c0004t0015g0016	1	378	0.0027	19	c.489 others(36): Show c.489+2850_489+2851insGTTATGTAACTATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03492.hp2 HG01981.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0362 a0001c0001t0003g0351 a0001c0001t0003g0362	2	378	0.0053	19	c.795 others(36): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	342	0.0029	19	c.274 others(38): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02109.hp1 others(5): Show HG00735.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02809.hp2 HG03486.hp2 NA19030.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0001c0016 others(1): Show a0001c0001 a0001c0012 a0001c0016 a0002c0008	a0001c0001t0001 a0001c0012t0001 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0001c0016t0001 a0002c0008t0003	a0001c0001t0001g0054 a0001c0001t0001g0113 a0001c0001t0001g0254 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0113 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0012t0001g0320 a0001c0016t0001g0114 a0002c0008t0003g0040	8	342	0.0234	19	c.184 others(36): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724789	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0336 a0001c0001t0001g0068 a0001c0001t0001g0336	2	342	0.0059	19	c.184 others(36): Show c.1847+313_1847+314insCTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0210 a0002c0002t0210	a0002c0002t0210g0054 a0002c0002t0210g0054	1	368	0.0027	19	c.21 others(30): Show c.2119_*2120insAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28540550	A A	AAGTGAAG others(12): Show AAGTGAAGACAGGATACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00741.hp2 others(79): Show HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0056 a0001c0001t0057 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0002g0056 others(39): Show a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0002g0056 a0001c0001t0004g0003 a0001c0001t0005g0004 a0001c0001t0007g0007 a0001c0001t0009g0009 a0001c0001t0013g0012 a0001c0001t0014g0013 a0001c0001t0027g0057 a0001c0001t0027g0089 a0001c0001t0028g0025 a0001c0001t0029g0026 a0001c0001t0056g0062 a0001c0001t0057g0136 a0001c0001t0066g0064 a0001c0001t0067g0065 a0001c0001t0068g0066 a0001c0001t0069g0067 a0001c0001t0070g0068 a0001c0001t0071g0069 a0001c0001t0072g0070 a0001c0001t0073g0071 a0001c0001t0074g0072 a0001c0001t0075g0073 a0001c0001t0077g0074 a0001c0001t0079g0075 a0001c0001t0080g0076 a0001c0001t0081g0077 a0001c0001t0082g0078 a0001c0001t0083g0079 a0001c0001t0084g0080 a0001c0001t0085g0081 a0001c0001t0086g0082 a0001c0001t0087g0083 a0001c0001t0088g0084 a0001c0001t0089g0085 a0001c0001t0090g0086 a0001c0001t0091g0087 a0001c0001t0092g0088 a0001c0001t0093g0090 a0001c0001t0094g0091	82	368	0.2228	19	c.-16 others(30): Show c.-1644_-1643insCAAGTATCCTGTCTTCACT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		1577		chr16	TogoVar
NUSAP1_chr15_41327881_41386046	41336655	T T	TTGTTTTT others(12): Show TTGTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0202 a0002c0003t0002g0202	1	292	0.0034	19	c.93+ others(34): Show c.93+3606_93+3607insGTTTTTTTTGTTTGTTTGT	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
NUSAP1_chr15_41327881_41386046	41336655	T T	TTGTTTTT others(12): Show TTGTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(28): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01975.hp1 HG02055.hp1 HG02258.hp1 HG02300.hp1 HG02602.hp1 HG02723.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA19060.hp2 NA20300.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007	a0002c0002t0001g0201 a0002c0002t0001g0208 a0002c0002t0001g0209 others(28): Show a0002c0002t0001g0201 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0236 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0232 a0002c0003t0002g0235 a0002c0003t0005g0013 a0002c0003t0005g0231 a0002c0003t0007g0219	31	292	0.1062	19	c.93+ others(34): Show c.93+3606_93+3607insGTTTTTTTTTTTTGTTTGT	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
NWD1_chr19_16714847_16822953	16756721	C C	CAGTACCC others(12): Show CAGTACCCGGTACTGCTCCG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0147 a0002c0001t0001g0147	1	300	0.0033	19	c.177 others(38): Show c.1770-2498_1770-2497insCGGTACTGCTCCGAGTACC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0034	1	408	0.0025	19	c.48 others(30): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	19	c.25 others(30): Show c.2531_*2532insATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	19	c.25 others(30): Show c.2531_*2532insAAAAAAAAATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453116	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02738.hp2 HG03041.hp1 others(6): Show HG02109.hp2 HG02738.hp2 HG03041.hp1 HG03098.hp2 HG03834.hp2 NA18979.hp2 NA18987.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0003c0003t0003g0008	9	408	0.0221	19	c.25 others(30): Show c.2530_*2531insTATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2308		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG03130.hp1 others(9): Show HG02027.hp1 HG02055.hp2 HG03130.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 NA18952.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0125 a0001c0001t0001g0217 a0001c0001t0002g0037 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0003g0036	12	242	0.0496	19	c.361 others(38): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	926527	G G	GTTTTTTG others(12): Show GTTTTTTGTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03453.hp2 others(1): Show HG01167.hp2 HG01169.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0026 a0001c0003t0008 a0001c0001t0003 a0001c0001t0026 a0001c0003t0008	a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0026g0173 others(1): Show a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0026g0173 a0001c0003t0008g0022	4	242	0.0165	19	c.360 others(38): Show c.360+52773_360+52791dupACAAAAAAAAAACAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	946705	G G	GACCCCCC others(12): Show GACCCCCCGCAGCGGGCGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	242	0.0041	19	c.360 others(38): Show c.360+32595_360+32613dupGTCGCCCGCTGCGGGGGGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948824	G G	GCGGCCTC others(12): Show GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01975.hp2 HG02109.hp2 others(10): Show HG00544.hp1 HG01975.hp2 HG02109.hp2 HG02132.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03654.hp1 NA18612.hp1 NA18939.hp2 NA19007.hp1 NA19009.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0001g0177 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0003g0180 a0001c0001t0005g0209 a0001c0001t0008g0176 a0001c0003t0001g0042	13	242	0.0537	19	c.360 others(38): Show c.360+30476_360+30494dupGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948913	T T	TCCCCCTG others(12): Show TCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0091 a0001c0001t0028g0091	1	242	0.0041	19	c.360 others(38): Show c.360+30405_360+30406insGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948920	T T	TGCCTCCT others(12): Show TGCCTCCTCCTCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20805.hp1 HG01192.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0030 a0001c0001t0021g0019 a0001c0001t0001g0030 a0001c0001t0021g0019	2	242	0.0083	19	c.360 others(38): Show c.360+30398_360+30399insCGCGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948994	C C	CCTGCCTC others(12): Show CCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	242	0.0041	19	c.360 others(38): Show c.360+30324_360+30325insCGGGGAGAGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949090	G G	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG00597.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0026 a0001c0001t0003g0084 a0001c0001t0002g0026 a0001c0001t0003g0084	2	242	0.0083	19	c.360 others(38): Show c.360+30228_360+30229insAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949217	C C	CCCCCCCT others(12): Show CCCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	19	c.360 others(38): Show c.360+30101_360+30102insAGAGGAGGAGGCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949221	G G	GCGGCCTC others(12): Show GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	242	0.0041	19	c.360 others(38): Show c.360+30097_360+30098insGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949318	G G	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0022 a0001c0003t0008g0022	1	242	0.0041	19	c.360 others(38): Show c.360+30000_360+30001insAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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