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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
NUP155_chr5_37283137_37376106	37308875	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01069.hp1 others(20): Show HG00423.hp2 HG00642.hp2 HG01069.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG03579.hp1 HG03710.hp2 HG03942.hp2 NA18968.hp2 NA18979.hp2 NA19001.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 others(3): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 a0001c0002t0023 a0001c0002t0044 a0001c0002t0055	a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 others(20): Show a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0274 a0001c0002t0002g0290 a0001c0002t0013g0066 a0001c0002t0013g0067 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0002t0014g0072 a0001c0002t0014g0075 a0001c0002t0014g0084 a0001c0002t0023g0065 a0001c0002t0044g0070 a0001c0002t0055g0068	23	300	0.0767	-7	c.276 others(24): Show c.2767+247_2767+253delTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	24/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47793722	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(85): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0007c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0006t0001 a0007c0010t0001 a0009c0011t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 others(85): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0002g0059 a0001c0001t0002g0192 a0001c0001t0003g0173 a0001c0005t0001g0049 a0001c0005t0001g0122 a0001c0005t0001g0124 a0001c0005t0001g0127 a0001c0005t0001g0225 a0001c0006t0001g0265 a0007c0010t0001g0260 a0009c0011t0001g0176	88	338	0.2604	-7	c.318 others(24): Show c.3188-783_3188-777delAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	27/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47831842	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(43): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp1 HG02145.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 NA18956.hp2 NA18967.hp2 NA18982.hp1 NA19005.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0015 a0002c0002 others(4): Show a0001c0001 a0001c0015 a0002c0002 a0002c0013 a0002c0014 a0004c0007 a0008c0012	a0001c0001t0003 a0001c0015t0001 a0002c0002t0001 others(4): Show a0001c0001t0003 a0001c0015t0001 a0002c0002t0001 a0002c0013t0001 a0002c0014t0001 a0004c0007t0001 a0008c0012t0001	a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 others(43): Show a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0269 a0001c0001t0003g0324 a0001c0015t0001g0274 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0013t0001g0113 a0002c0014t0001g0047 a0004c0007t0001g0043 a0004c0007t0001g0110 a0008c0012t0001g0078	46	338	0.1361	-7	c.999 others(24): Show c.999+3802_999+3808delTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47831894	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(95): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0009	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0005c0008 a0007c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0006t0001 a0005c0008t0002 a0007c0010t0001 a0009c0011t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 others(95): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0190 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0311 a0001c0005t0001g0049 a0001c0005t0001g0122 a0001c0005t0001g0124 a0001c0005t0001g0127 a0001c0005t0001g0225 a0001c0006t0001g0171 a0001c0006t0001g0265 a0001c0006t0001g0268 a0001c0006t0001g0323 a0005c0008t0002g0310 a0007c0010t0001g0260 a0009c0011t0001g0176	98	338	0.2899	-7	c.999 others(24): Show c.999+3750_999+3756delAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP214_chr9_131120586_131239663	131138286	TCGGCTCA TCGGCTCA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp2 HG02897.hp1 HG01106.hp2 HG02723.hp2 HG02897.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0005 a0006c0012t0001g0006 a0006c0012t0001g0007 a0006c0012t0001g0005 a0006c0012t0001g0006 a0006c0012t0001g0007	3	234	0.0128	-7	c.100 others(24): Show c.1006-993_1006-987delGGCTCAC	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp2 HG01884.hp2 others(31): Show HG00597.hp1 HG01361.hp2 HG01884.hp2 HG01943.hp2 HG02055.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp2 HG02559.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03927.hp2 HG04204.hp1 NA18948.hp2 NA18952.hp1 NA18968.hp2 NA18971.hp1 NA18983.hp2 NA19001.hp1 NA19002.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19074.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0011	a0001c0001t0001g0099 a0001c0004t0001g0165 a0001c0004t0001g0196 others(31): Show a0001c0001t0001g0099 a0001c0004t0001g0165 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0220 a0002c0002t0001g0106 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0130 a0002c0002t0001g0134 a0002c0002t0001g0145 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0210 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0008g0148 a0002c0002t0011g0105	34	234	0.1453	-7	c.365 others(26): Show c.3659+1364_3659+1370delTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183120013	TGTATATA TGTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0038 a0001c0001t0002g0261 a0001c0001t0002g0274 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0005g0013 a0001c0004t0001g0232	256	402	0.6368	-7	c.-44 others(18): Show c.-4444_-4438delGTATATA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding		4429		chr2	TogoVar
NUP35_chr2_183119443_183166680	183130870	GTTTAATA GTTTAATA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18983.hp2 NA19077.hp2 NA18969.hp2 NA18983.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0127 a0001c0001t0001g0027 a0001c0001t0001g0127	3	402	0.0075	-7	c.339 others(22): Show c.339+338_339+344delTATTTAA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183149306	CAAAATTT CAAAATTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01516.hp1 HG01517.hp1 HG01256.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0006g0023 a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0006g0023	3	402	0.0075	-7	c.398 others(24): Show c.398-2192_398-2186delAATTTAA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP37_chr12_102068103_102125114	102091399	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG01071.hp1 others(53): Show HG00621.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02698.hp2 HG03491.hp1 HG03492.hp2 NA18612.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19059.hp2 NA19062.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0009 a0001c0007t0002 a0001c0001t0002 a0001c0001t0009 a0001c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(27): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0009g0237 a0001c0007t0002g0242	56	398	0.1407	-7	c.450 others(24): Show c.450-5550_450-5544delTTTTTTT	NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	5/9			chr12	TogoVar
NUP37_chr12_102068103_102125114	102105861	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02486.hp1 others(5): Show HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02818.hp1 HG02896.hp2 HG03225.hp1 HG03453.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0201 a0001c0001t0004g0202 others(5): Show a0001c0001t0004g0049 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0222	8	398	0.0201	-7	c.282 others(24): Show c.282-4764_282-4758delTTTTTTT	NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	3/9			chr12	TogoVar
NUP42_chr7_23177048_23206006	23183754	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02280.hp1 others(14): Show HG01243.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0029 a0001c0002t0002g0041 a0001c0002t0002g0063 others(12): Show a0001c0002t0002g0029 a0001c0002t0002g0041 a0001c0002t0002g0063 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0005t0002g0101 a0001c0005t0002g0102 a0001c0005t0002g0103 a0001c0005t0002g0104 a0001c0005t0002g0205 a0001c0005t0002g0206 a0001c0005t0002g0207 a0001c0005t0002g0208 a0001c0005t0002g0209	17	364	0.0467	-7	c.122 others(24): Show c.122-1298_122-1292delAAAAAAA	NUP42	ENSG00000136243.18	transcript	ENST00000258742.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP42_chr7_23177048_23206006	23192546	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG02004.hp2 others(4): Show HG00639.hp2 HG00733.hp2 HG02004.hp2 HG02015.hp1 NA18612.hp1 NA18982.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0001t0001g0184	7	364	0.0192	-7	c.446 others(24): Show c.446-3282_446-3276delAAAAAAA	NUP42	ENSG00000136243.18	transcript	ENST00000258742.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP43_chr6_149719315_149751529	149750711	GTGGAGTT GTGGAGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02602.hp1 HG03942.hp2 HG02080.hp2 HG02602.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0115 a0001c0001t0003g0013 a0001c0001t0003g0115	3	328	0.0092	-7	c.-42 others(18): Show c.-4223_-4217delAACTCCA	NUP43	ENSG00000120253.14	transcript	ENST00000340413.7	protein_coding		4183		chr6	TogoVar
NUP50_chr22_45158925_45193017	45180383	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02630.hp2 others(7): Show HG01891.hp1 HG02486.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0017 a0001c0001t0034 others(4): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0034 a0001c0001t0056 a0001c0002t0014 a0001c0002t0017 a0001c0002t0035	a0001c0001t0014g0262 a0001c0001t0014g0265 a0001c0001t0014g0269 others(7): Show a0001c0001t0014g0262 a0001c0001t0014g0265 a0001c0001t0014g0269 a0001c0001t0017g0266 a0001c0001t0017g0267 a0001c0001t0034g0261 a0001c0001t0056g0251 a0001c0002t0014g0264 a0001c0002t0017g0268 a0001c0002t0035g0263	10	432	0.0232	-7	c.100 others(24): Show c.1004-902_1004-896delTTTTTTT	NUP50	ENSG00000093000.19	transcript	ENST00000347635.9	protein_coding	5/7			chr22	TogoVar
NUP50_chr22_45158925_45193017	45183657	ATAGTTTT ATAGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02895.hp1 others(4): Show HG02258.hp2 HG02572.hp1 HG02895.hp1 HG03041.hp2 HG03486.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0173 a0001c0001t0009g0254 others(2): Show a0001c0001t0009g0022 a0001c0001t0009g0173 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0009g0256	7	432	0.0162	-7	c.120 others(24): Show c.1204+138_1204+144delTAGTTTT	NUP50	ENSG00000093000.19	transcript	ENST00000347635.9	protein_coding	7/7			chr22	TogoVar
NUP54_chr4_76109664_76153397	76125283	GAAACAAA GAAACAAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp1 HG03041.hp1 others(15): Show HG00673.hp1 HG02083.hp1 HG03041.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp2 NA18974.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19010.hp2 NA19030.hp1 NA19064.hp2 NA19077.hp2 NA19078.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0314 a0001c0004t0001g0315 others(12): Show a0001c0004t0001g0004 a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0004t0001g0320 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0323 a0001c0004t0001g0324 a0001c0004t0001g0325 a0001c0004t0001g0326 a0001c0004t0001g0327	18	370	0.0487	-7	c.105 others(24): Show c.1057-534_1057-528delTTTGTTT	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125669	AGAGGGAG AGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG03453.hp2 others(4): Show HG02055.hp2 HG02922.hp2 HG03453.hp2 NA18968.hp1 NA18989.hp2 NA19076.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0030 others(4): Show a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0030 a0002c0002t0003g0044 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0067	7	370	0.0189	-7	c.105 others(24): Show c.1057-920_1057-914delCTCCCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP58_chr13_25296625_25347421	25304513	TATATGTA TATATGTA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 NA18979.hp1 HG01934.hp1 HG01934.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0006t0001g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0006t0001g0247	3	350	0.0086	-7	c.107 others(24): Show c.107+2634_107+2640delATATGTA	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15			chr13	TogoVar
NUP58_chr13_25296625_25347421	25304514	ATATGTAT ATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01346.hp1 others(9): Show HG01099.hp2 HG01123.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02145.hp2 HG02965.hp1 HG04228.hp2 NA19043.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0004c0007t0003	a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0003g0144 others(9): Show a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0003g0144 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0012g0151 a0001c0001t0012g0152 a0004c0007t0003g0145 a0004c0007t0003g0146	12	350	0.0343	-7	c.107 others(24): Show c.107+2636_107+2642delATGTATT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62CL_chrX_107118427_107211433	107189829	GGAAGGAA GGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	280	0.0036	-7	c.-48 others(24): Show c.-48+3193_-48+3199delTTCCTTC	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107194807	CTCTCTTT CTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01099.hp1 others(16): Show HG00408.hp1 HG00438.hp2 HG01099.hp1 HG01934.hp1 HG02135.hp1 HG02148.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19011.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(16): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0094 a0001c0001t0006g0045	19	280	0.0679	-7	c.-91 others(24): Show c.-91-1742_-91-1736delAAAGAGA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204752	AAATAAAT AAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02965.hp1 others(5): Show HG02280.hp1 HG02630.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA19012.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0003g0141	8	280	0.0286	-7	c.-92 others(24): Show c.-92+1514_-92+1520delATTTATT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204776	AAATAAAT AAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03486.hp1 NA18939.hp1 others(8): Show HG02080.hp2 HG03486.hp1 NA18939.hp1 NA18942.hp2 NA18957.hp2 NA18966.hp1 NA18989.hp1 NA18999.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0002 a0001c0001t0002 a0005c0004t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(8): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0005c0004t0002g0079	11	280	0.0393	-7	c.-92 others(24): Show c.-92+1490_-92+1496delATTTATT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204784	TTTAAATA TTTAAATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02965.hp1 others(5): Show HG02280.hp1 HG02630.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA19012.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0003g0141	8	280	0.0286	-7	c.-92 others(24): Show c.-92+1482_-92+1488delTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204808	TTTAAATA TTTAAATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03486.hp1 NA18939.hp1 others(8): Show HG02080.hp2 HG03486.hp1 NA18939.hp1 NA18942.hp2 NA18957.hp2 NA18966.hp1 NA18989.hp1 NA18999.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0002 a0001c0001t0002 a0005c0004t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(8): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0005c0004t0002g0079	11	280	0.0393	-7	c.-92 others(24): Show c.-92+1458_-92+1464delTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62_chr19_49901825_49934504	49934258	AAAAGGGG AAAAGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00735.hp2 others(24): Show HG00423.hp2 HG00639.hp2 HG00735.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG04184.hp2 HG04199.hp2 NA18979.hp2 NA18991.hp2 NA18998.hp2 NA19043.hp2 NA19062.hp1 NA19074.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0003c0004 a0012c0012	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0024 a0001c0003t0003 a0001c0007t0008 a0003c0004t0008 a0003c0004t0018 a0012c0012t0004	a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0306 others(20): Show a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0306 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0247 a0001c0001t0008g0246 a0001c0001t0019g0305 a0001c0001t0019g0337 a0001c0001t0019g0338 a0001c0001t0024g0257 a0001c0003t0003g0241 a0001c0007t0008g0261 a0003c0004t0008g0012 a0003c0004t0008g0036 a0003c0004t0008g0249 a0003c0004t0008g0252 a0003c0004t0008g0255 a0003c0004t0008g0259 a0003c0004t0008g0260 a0003c0004t0018g0254 a0012c0012t0004g0243	27	416	0.0649	-7	c.-51 others(18): Show c.-5139_-5133delCCCCTTT	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding		4755		chr19	TogoVar
NUP85_chr17_75200679_75240758	75212469	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp2 others(6): Show HG02055.hp1 HG02109.hp2 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0201 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207	9	276	0.0326	-7	c.361 others(22): Show c.361+428_361+434delTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP85_chr17_75200679_75240758	75222495	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(153): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19068.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0010 a0003c0013 others(2): Show a0001c0001 a0001c0010 a0003c0013 a0005c0011 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0003c0013t0001 a0005c0011t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0003g0009 a0001c0010t0001g0078 a0003c0013t0001g0027 a0005c0011t0001g0064 a0006c0009t0001g0032	156	276	0.5652	-7	c.598 others(24): Show c.598-2585_598-2579delTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP93_chr16_56725129_56855286	56794927	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp1 others(38): Show HG00140.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01358.hp2 HG02155.hp2 HG02165.hp1 HG02698.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18991.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19083.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039	a0001c0001t0001g0002 a0001c0001t0001g0302 a0001c0001t0001g0303 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0017g0307 a0001c0001t0017g0342 a0001c0001t0023g0329 a0001c0001t0023g0330 a0001c0001t0025g0314 a0001c0001t0039g0317	41	378	0.1085	-7	c.298 others(24): Show c.298-3523_298-3517delAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3684766	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01106.hp1 others(12): Show HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp1 HG02809.hp2 HG03017.hp1 HG03654.hp1 HG03688.hp2 NA19043.hp2 NA19055.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0026 others(4): Show a0001c0001 a0001c0003 a0001c0026 a0002c0005 a0002c0008 a0005c0010 a0005c0021	a0001c0001t0001 a0001c0003t0002 a0001c0026t0001 others(5): Show a0001c0001t0001 a0001c0003t0002 a0001c0026t0001 a0002c0005t0001 a0002c0008t0001 a0002c0008t0003 a0005c0010t0001 a0005c0021t0001	a0001c0001t0001g0113 a0001c0001t0001g0221 a0001c0001t0001g0250 others(12): Show a0001c0001t0001g0113 a0001c0001t0001g0221 a0001c0001t0001g0250 a0001c0003t0002g0290 a0001c0026t0001g0298 a0002c0005t0001g0299 a0002c0005t0001g0300 a0002c0005t0001g0301 a0002c0005t0001g0302 a0002c0005t0001g0304 a0002c0008t0001g0003 a0002c0008t0003g0062 a0002c0008t0003g0064 a0005c0010t0001g0339 a0005c0021t0001g0259	15	342	0.0439	-7	c.467 others(26): Show c.4676+1200_4676+1206delTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	29/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3753755	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp2 others(55): Show HG00408.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01884.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02083.hp2 HG02155.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 NA18612.hp2 NA18942.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18984.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0019	a0001c0001 a0001c0002 a0002c0005 others(4): Show a0001c0001 a0001c0002 a0002c0005 a0002c0008 a0003c0004 a0006c0009 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 a0002c0008t0003 a0003c0004t0001 a0006c0009t0001 a0019c0022t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 others(55): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0183 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0046 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0327 a0002c0005t0001g0299 a0002c0005t0001g0301 a0002c0005t0001g0303 a0002c0005t0001g0304 a0002c0008t0003g0040 a0002c0008t0003g0062 a0003c0004t0001g0115 a0006c0009t0001g0033 a0006c0009t0001g0035 a0019c0022t0001g0128	58	342	0.1696	-7	c.117 others(24): Show c.1175-354_1175-348delTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	10/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3769744	CTAAAAAT CTAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00735.hp2 others(1): Show HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252	4	342	0.0117	-7	c.785 others(24): Show c.785-1007_785-1001delATTTTTA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	7/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3781490	TTTAAAAA TTTAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp2 HG01884.hp1 others(42): Show HG00597.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18974.hp1 NA18984.hp1 NA19003.hp1 NA19007.hp1 NA19057.hp1 NA19068.hp1 NA19081.hp1 NA19084.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0019	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0003c0004 a0006c0009 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0017t0002 a0003c0004t0001 a0006c0009t0001 a0019c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 others(42): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0002g0002 a0001c0001t0002g0309 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0315 a0001c0002t0001g0318 a0001c0006t0001g0126 a0001c0006t0001g0127 a0001c0017t0002g0116 a0003c0004t0001g0115 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0120 a0006c0009t0001g0033 a0006c0009t0001g0034 a0006c0009t0001g0035 a0019c0022t0001g0128	45	342	0.1316	-7	c.76+ others(20): Show c.76+545_76+551delTTTTTAA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	2/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3792178	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG01943.hp1 others(6): Show HG00639.hp2 HG01884.hp1 HG01943.hp1 HG02897.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0011c0034	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0004t0001 a0011c0034t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0121 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0307 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0002t0001g0315 a0003c0004t0001g0316 a0011c0034t0001g0122	9	342	0.0263	-7	c.-29 others(24): Show c.-29+5215_-29+5221delTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	1/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56118394	GTTTTTTT GTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01123.hp2 others(47): Show HG00544.hp2 HG00642.hp1 HG01123.hp2 HG01167.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18989.hp2 NA18993.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19080.hp1 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0007g0079	50	448	0.1116	-7	c.-20 others(18): Show c.-2087_-2081delAAAAAAA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding		1978		chr7	TogoVar
NUTF2_chr16_67841933_67877567	67864509	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02451.hp2 others(16): Show HG01109.hp1 HG01884.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013	a0001c0001t0002g0075 a0001c0001t0003g0027 a0001c0001t0003g0028 others(13): Show a0001c0001t0002g0075 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0008g0071 a0001c0001t0008g0155 a0001c0001t0009g0017 a0001c0001t0013g0085	19	248	0.0766	-7	c.-29 others(22): Show c.-29-575_-29-569delAAAAAAA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUTM1_chr15_34338315_34362735	34347882	ATAAAAAT ATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02809.hp2 others(3): Show HG02257.hp2 HG02559.hp2 HG02809.hp2 HG03130.hp1 HG03516.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0010 a0004c0005 a0004c0010	a0004c0005t0001 a0004c0010t0001 a0004c0005t0001 a0004c0010t0001	a0004c0005t0001g0273 a0004c0010t0001g0022 a0004c0010t0001g0330 others(1): Show a0004c0005t0001g0273 a0004c0010t0001g0022 a0004c0010t0001g0330 a0004c0010t0001g0331	6	454	0.0132	-7	c.101 others(20): Show c.101-86_101-80delTAAAAAT	NUTM1	ENSG00000184507.17	transcript	ENST00000537011.6	protein_coding	2/7			chr15	TogoVar
NUTM1_chr15_34338315_34362735	34351227	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(47): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00741.hp2 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02027.hp2 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG06807.hp1 NA18949.hp1 NA18955.hp1 NA18962.hp1 NA18978.hp2 NA18994.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19068.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0014 a0024	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0004c0006 a0005c0004 a0014c0017 a0024c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0003t0002 a0004c0005t0001 a0004c0006t0001 a0004c0006t0010 a0005c0004t0001 a0014c0017t0002 a0024c0034t0002	a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0160 others(42): Show a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0001t0002g0332 a0001c0001t0004g0014 a0002c0002t0001g0113 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0274 a0002c0002t0001g0290 a0002c0002t0001g0311 a0002c0002t0001g0312 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0102 a0003c0003t0002g0321 a0004c0005t0001g0040 a0004c0005t0001g0232 a0004c0006t0001g0147 a0004c0006t0001g0234 a0004c0006t0001g0320 a0004c0006t0010g0151 a0005c0004t0001g0141 a0005c0004t0001g0191 a0005c0004t0001g0192 a0005c0004t0001g0289 a0014c0017t0002g0080 a0024c0034t0002g0112	50	454	0.1101	-7	c.938 others(22): Show c.938+426_938+432delAAAAAAA	NUTM1	ENSG00000184507.17	transcript	ENST00000537011.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
NUTM2A_chr10_87220448_87239978	87237694	CTTTTTTT CTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00642.hp2 others(22): Show HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01074.hp1 HG01106.hp2 HG01261.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02027.hp1 HG02300.hp1 HG03130.hp1 HG03130.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG04228.hp1 HG06807.hp2 NA18969.hp1 NA18973.hp1 NA19000.hp2 NA19004.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0015 a0001c0032 others(5): Show a0001c0005 a0001c0015 a0001c0032 a0001c0034 a0001c0050 a0001c0059 a0001c0062 a0001c0063	a0001c0005t0004 a0001c0015t0004 a0001c0032t0004 others(5): Show a0001c0005t0004 a0001c0015t0004 a0001c0032t0004 a0001c0034t0004 a0001c0050t0004 a0001c0059t0004 a0001c0062t0004 a0001c0063t0004	a0001c0005t0004g0004 a0001c0005t0004g0060 a0001c0015t0004g0017 others(7): Show a0001c0005t0004g0004 a0001c0005t0004g0060 a0001c0015t0004g0017 a0001c0032t0004g0004 a0001c0032t0004g0074 a0001c0034t0004g0004 a0001c0050t0004g0004 a0001c0059t0004g0004 a0001c0062t0004g0004 a0001c0063t0004g0004	25	403	0.0620	-7	c.29 others(18): Show c.2987_*2993delTTTTTTT	NUTM2A	ENSG00000184923.12	transcript	ENST00000381707.6	protein_coding		2717		chr10	TogoVar
NWD1_chr19_16714847_16822953	16730674	ACCACTGC ACCACTGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02145.hp2 others(2): Show HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG03195.hp1	a0001 a0011 a0030 a0001 a0011 a0030	a0001c0035 a0011c0011 a0030c0043 a0001c0035 a0011c0011 a0030c0043	a0001c0035t0002 a0011c0011t0002 a0011c0011t0011 others(1): Show a0001c0035t0002 a0011c0011t0002 a0011c0011t0011 a0030c0043t0009	a0001c0035t0002g0020 a0011c0011t0002g0022 a0011c0011t0011g0024 others(2): Show a0001c0035t0002g0020 a0011c0011t0002g0022 a0011c0011t0011g0024 a0011c0011t0011g0025 a0030c0043t0009g0023	5	300	0.0167	-7	c.-6- others(20): Show c.-6-515_-6-509delACTGCCC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16738768	GATATATA GATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG02293.hp1 others(7): Show HG01081.hp1 HG01099.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp2 HG02965.hp2 HG03453.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0019 a0021 a0032 a0033	a0001c0002 a0002c0001 a0004c0005 others(6): Show a0001c0002 a0002c0001 a0004c0005 a0006c0014 a0006c0044 a0019c0024 a0021c0026 a0032c0053 a0033c0052	a0001c0002t0020 a0002c0001t0001 a0004c0005t0039 others(6): Show a0001c0002t0020 a0002c0001t0001 a0004c0005t0039 a0006c0014t0008 a0006c0044t0001 a0019c0024t0001 a0021c0026t0002 a0032c0053t0001 a0033c0052t0001	a0001c0002t0020g0249 a0002c0001t0001g0147 a0004c0005t0039g0084 others(7): Show a0001c0002t0020g0249 a0002c0001t0001g0147 a0004c0005t0039g0084 a0006c0014t0008g0253 a0006c0044t0001g0255 a0019c0024t0001g0251 a0019c0024t0001g0259 a0021c0026t0002g0083 a0032c0053t0001g0252 a0033c0052t0001g0254	10	300	0.0333	-7	c.198 others(24): Show c.198+2036_198+2042delTATAATA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37302319	CTATTGAG CTATTGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp2 others(47): Show HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01517.hp1 HG01884.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0001c0020 a0001c0029 a0002c0003 a0003c0016 a0006c0022 a0007c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0014t0011 a0001c0020t0007 a0001c0029t0002 a0002c0003t0003 a0002c0003t0010 a0003c0016t0001 a0006c0022t0010 a0007c0024t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(47): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0007g0255 a0001c0001t0007g0265 a0001c0001t0007g0289 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0112 a0001c0002t0004g0136 a0001c0002t0004g0224 a0001c0002t0004g0231 a0001c0002t0004g0244 a0001c0002t0008g0251 a0001c0002t0008g0253 a0001c0004t0001g0044 a0001c0004t0001g0209 a0001c0004t0001g0222 a0001c0014t0011g0154 a0001c0020t0007g0266 a0001c0029t0002g0180 a0002c0003t0003g0093 a0002c0003t0010g0267 a0002c0003t0010g0291 a0003c0016t0001g0111 a0006c0022t0010g0281 a0007c0024t0002g0078	50	296	0.1689	-7	c.152 others(26): Show c.152-23613_152-23607delTGAGTAT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37317998	ATTTCTTT ATTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02109.hp2 others(3): Show HG01099.hp2 HG01884.hp1 HG02109.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0002c0003t0006	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0288 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0288 a0001c0001t0013g0088 a0001c0004t0001g0092 a0002c0003t0006g0057	6	296	0.0203	-7	c.152 others(24): Show c.152-7923_152-7917delTTTCTTT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37322720	ATGAGAGG ATGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 NA19030.hp2 HG02257.hp2 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0182 a0001c0009t0002g0197 a0001c0009t0002g0242 a0001c0002t0002g0182 a0001c0009t0002g0197 a0001c0009t0002g0242	3	296	0.0101	-7	c.152 others(24): Show c.152-3211_152-3205delAGGTGAG	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37395584	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02895.hp1 others(3): Show HG02451.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0003 a0001c0001t0001 a0001c0008t0003	a0001c0001t0001g0107 a0001c0008t0003g0172 a0001c0008t0003g0173 others(3): Show a0001c0001t0001g0107 a0001c0008t0003g0172 a0001c0008t0003g0173 a0001c0008t0003g0174 a0001c0008t0003g0175 a0001c0008t0003g0282	6	296	0.0203	-7	c.358 others(26): Show c.358-34969_358-34963delAAAAAAA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102355948	AGAGAGAG AGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	54	0.0185	-7	c.46 others(18): Show c.4646_*4652delCTCTCTC	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding		4446		chrX	TogoVar
NXF2B_chrX_102355395_102445008	102377147	TTTGTGTG TTTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG02630.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	54	0.0370	-7	c.43+ others(22): Show c.43+2840_43+2846delCACACAA	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	3/22			chrX	TogoVar
NXF2_chrX_102242167_102331722	102246741	AAAAAAAG AAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	38	0.0263	-7	c.-67 others(16): Show c.-672_-666delAAAAAAG	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding		425		chrX	TogoVar
NXF2_chrX_102242167_102331722	102274541	CCTCTTCT CCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	38	0.0263	-7	c.-54 others(26): Show c.-54+25984_-54+25990delCTCTTCT	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)