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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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
NACAD_chr7_45075437_45093969	45078732	ATCAGAAG others(31): Show ATCAGAAGGCGGTGAGGGGACATCAGTAATGAGGGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0069 a0069	a0069c0082 a0069c0082	a0069c0082t0001 a0069c0082t0001	a0069c0082t0001g0093 a0069c0082t0001g0093	1	410	0.0024	-38	c.17 others(49): Show c.1739_*1776delCGTCCCCTCATTACTGATGTCCCCTCACCGCCTT CTGA	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding		1704		chr7	TogoVar
NACC2_chr9_136001537_136100289	136024211	TGTGTGTG others(31): Show TGTGTGTGTGAGGACAGAGGGTGTGTGTGAGGACAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(219): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0017 a0001c0018 a0001c0019 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0030 a0001c0035 a0001c0037 a0001c0039 a0001c0044 a0001c0045 a0002c0006 a0002c0022 a0002c0038 a0002c0046 a0003c0013 a0003c0015 a0004c0031 a0008c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0096 a0001c0001t0102 a0001c0002t0003 a0001c0002t0015 a0001c0002t0016 a0001c0002t0046 a0001c0002t0047 a0001c0002t0054 a0001c0002t0056 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0079 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0028 a0001c0003t0036 a0001c0003t0039 a0001c0003t0082 a0001c0003t0087 a0001c0003t0089 a0001c0003t0091 a0001c0003t0092 a0001c0005t0029 a0001c0005t0030 a0001c0007t0026 a0001c0007t0051 a0001c0008t0018 a0001c0008t0025 a0001c0008t0027 a0001c0008t0050 a0001c0008t0052 a0001c0009t0020 a0001c0009t0037 a0001c0009t0038 a0001c0010t0005 a0001c0010t0086 a0001c0010t0088 a0001c0010t0093 a0001c0011t0001 a0001c0017t0018 a0001c0017t0049 a0001c0018t0001 a0001c0018t0008 a0001c0019t0003 a0001c0023t0014 a0001c0023t0084 a0001c0024t0009 a0001c0024t0014 a0001c0026t0025 a0001c0027t0095 a0001c0030t0048 a0001c0035t0101 a0001c0037t0053 a0001c0039t0020 a0001c0044t0007 a0001c0045t0001 a0002c0006t0006 a0002c0006t0011 a0002c0006t0055 a0002c0006t0057 a0002c0022t0006 a0002c0038t0065 a0002c0046t0006 a0003c0013t0010 a0003c0013t0081 a0003c0015t0010 a0004c0031t0001 a0008c0032t0010	a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0082 others(218): Show a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0002g0118 a0001c0001t0008g0113 a0001c0001t0008g0192 a0001c0001t0008g0197 a0001c0001t0008g0215 a0001c0001t0008g0259 a0001c0001t0008g0289 a0001c0001t0008g0291 a0001c0001t0008g0297 a0001c0001t0009g0008 a0001c0001t0009g0065 a0001c0001t0009g0073 a0001c0001t0009g0203 a0001c0001t0009g0224 a0001c0001t0009g0258 a0001c0001t0021g0155 a0001c0001t0021g0170 a0001c0001t0021g0290 a0001c0001t0023g0033 a0001c0001t0023g0037 a0001c0001t0024g0189 a0001c0001t0024g0336 a0001c0001t0028g0247 a0001c0001t0040g0186 a0001c0001t0040g0256 a0001c0001t0041g0154 a0001c0001t0041g0162 a0001c0001t0042g0166 a0001c0001t0042g0184 a0001c0001t0043g0086 a0001c0001t0043g0087 a0001c0001t0096g0257 a0001c0001t0102g0010 a0001c0002t0003g0069 a0001c0002t0003g0080 a0001c0002t0003g0084 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0121 a0001c0002t0003g0126 a0001c0002t0003g0140 a0001c0002t0003g0147 a0001c0002t0003g0160 a0001c0002t0003g0169 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0003g0188 a0001c0002t0003g0205 a0001c0002t0003g0227 a0001c0002t0003g0243 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0003g0308 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0325 a0001c0002t0015g0111 a0001c0002t0015g0129 a0001c0002t0015g0143 a0001c0002t0015g0185 a0001c0002t0016g0026 a0001c0002t0016g0131 a0001c0002t0016g0208 a0001c0002t0016g0285 a0001c0002t0046g0003 a0001c0002t0047g0153 a0001c0002t0054g0303 a0001c0002t0056g0021 a0001c0002t0059g0307 a0001c0002t0060g0337 a0001c0002t0061g0146 a0001c0002t0062g0110 a0001c0002t0063g0107 a0001c0002t0064g0239 a0001c0002t0079g0041 a0001c0003t0001g0282 a0001c0003t0001g0296 a0001c0003t0001g0316 a0001c0003t0001g0328 a0001c0003t0005g0006 a0001c0003t0005g0009 a0001c0003t0005g0015 a0001c0003t0005g0064 a0001c0003t0005g0090 a0001c0003t0005g0125 a0001c0003t0005g0133 a0001c0003t0005g0165 a0001c0003t0005g0191 a0001c0003t0005g0213 a0001c0003t0005g0214 a0001c0003t0005g0216 a0001c0003t0005g0240 a0001c0003t0005g0260 a0001c0003t0005g0267 a0001c0003t0005g0302 a0001c0003t0005g0310 a0001c0003t0005g0334 a0001c0003t0007g0112 a0001c0003t0007g0172 a0001c0003t0007g0176 a0001c0003t0007g0177 a0001c0003t0007g0178 a0001c0003t0007g0292 a0001c0003t0007g0315 a0001c0003t0007g0340 a0001c0003t0007g0341 a0001c0003t0014g0007 a0001c0003t0014g0012 a0001c0003t0014g0252 a0001c0003t0028g0104 a0001c0003t0036g0001 a0001c0003t0039g0100 a0001c0003t0039g0200 a0001c0003t0082g0229 a0001c0003t0087g0326 a0001c0003t0089g0014 a0001c0003t0091g0218 a0001c0003t0092g0081 a0001c0005t0029g0293 a0001c0005t0029g0320 a0001c0005t0030g0029 a0001c0005t0030g0030 a0001c0007t0026g0206 a0001c0007t0026g0346 a0001c0007t0051g0246 a0001c0008t0018g0046 a0001c0008t0018g0094 a0001c0008t0025g0005 a0001c0008t0027g0039 a0001c0008t0027g0345 a0001c0008t0050g0245 a0001c0008t0052g0048 a0001c0009t0020g0344 a0001c0009t0037g0091 a0001c0009t0037g0343 a0001c0009t0038g0274 a0001c0009t0038g0275 a0001c0010t0005g0022 a0001c0010t0005g0024 a0001c0010t0005g0028 a0001c0010t0086g0298 a0001c0010t0088g0317 a0001c0010t0093g0025 a0001c0011t0001g0101 a0001c0011t0001g0116 a0001c0011t0001g0251 a0001c0011t0001g0266 a0001c0011t0001g0271 a0001c0017t0018g0011 a0001c0017t0049g0249 a0001c0018t0001g0120 a0001c0018t0008g0201 a0001c0019t0003g0062 a0001c0019t0003g0063 a0001c0023t0014g0072 a0001c0023t0084g0054 a0001c0024t0009g0013 a0001c0024t0014g0044 a0001c0026t0025g0253 a0001c0027t0095g0314 a0001c0030t0048g0175 a0001c0035t0101g0286 a0001c0037t0053g0047 a0001c0039t0020g0075 a0001c0044t0007g0164 a0001c0045t0001g0068 a0002c0006t0006g0004 a0002c0006t0006g0036 a0002c0006t0006g0050 a0002c0006t0006g0051 a0002c0006t0006g0060 a0002c0006t0006g0061 a0002c0006t0006g0088 a0002c0006t0011g0096 a0002c0006t0055g0342 a0002c0006t0057g0242 a0002c0022t0006g0019 a0002c0022t0006g0078 a0002c0038t0065g0057 a0002c0046t0006g0180 a0003c0013t0010g0017 a0003c0013t0010g0119 a0003c0013t0081g0035 a0003c0015t0010g0002 a0003c0015t0010g0049 a0003c0015t0010g0122 a0004c0031t0001g0305 a0008c0032t0010g0040	222	348	0.6379	-38	c.887 others(55): Show c.887-7820_887-7783delCCTCTGTCCTCACACACACCCTCTGTCC TCACACACAC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136024253	TGTGTGAG others(31): Show TGTGTGAGGACAGAGGGTGTGTGTGAGGACAGAGGGTGC	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0066 a0006c0028t0066	a0006c0028t0066g0031 a0006c0028t0066g0031	1	348	0.0029	-38	c.887 others(55): Show c.887-7862_887-7825delGCACCCTCTGTCCTCACACACACCCTCT GTCCTCACAC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NADK_chr1_1746232_1783470	1768350	CAACATAG others(31): Show CAACATAGCAGGATTCTGTCTCTACAAAACAAAAACAAA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	414	0.0024	-38	c.-40 others(55): Show c.-40-2942_-40-2905delTTTGTTTTTGTTTTGTAGAGACAGAATC CTGCTATGTT	NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	1/11			chr1	TogoVar
NAGK_chr2_71063648_71084808	71081020	TTTTATTT others(31): Show TTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp1 others(50): Show HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02602.hp2 HG02735.hp2 HG02965.hp2 HG03130.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18989.hp1 NA18994.hp1 NA19001.hp2 NA19006.hp1 NA19011.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0007 a0008c0012	a0001c0001t0002 a0001c0002t0002 a0002c0006t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0002c0006t0002 a0003c0007t0002 a0008c0012t0002	a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0019 others(12): Show a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0069 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0002t0002g0003 a0002c0006t0002g0004 a0002c0006t0002g0039 a0003c0007t0002g0004 a0008c0012t0002g0004	53	442	0.1199	-38	c.25 others(49): Show c.2513_*2550delTTTATTTTATTTTATTTATTTTATTTTATTTTAT TTTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1213		chr2	TogoVar
NAP1L5_chr4_88690913_88702829	88698572	GCAAGTCT others(31): Show GCAAGTCTTTCTAAAGCATGGGGCCCAGGGCCAAGGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp2 others(91): Show HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19087.hp2 NA19091.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0007 a0005c0006 a0001c0001 a0004c0007 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0004c0007t0001 a0005c0006t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0008g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0008g0000 a0004c0007t0001g0000 a0005c0006t0003g0000	94	414	0.2271	-38	c.-85 others(47): Show c.-856_-819delGGGCCTTGGCCCTGGGCCCCATGCTTTAGAAAGACT TG	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		744		chr4	TogoVar
NASP_chr1_45579041_45623893	45595129	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 NA18906.hp2 HG01891.hp2 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030	3	300	0.0100	-38	c.107 others(55): Show c.107+3881_107+3918delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19954936	TATATATA others(31): Show TATATATACATATATACATATATATATACATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02572.hp2 others(7): Show HG02071.hp1 HG02155.hp1 HG02572.hp2 NA18942.hp2 NA18964.hp2 NA18991.hp1 NA19066.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0020	a0001c0028 a0001c0034 a0002c0098 others(7): Show a0001c0028 a0001c0034 a0002c0098 a0002c0129 a0004c0001 a0006c0023 a0007c0090 a0007c0114 a0008c0097 a0020c0123	a0001c0028t0030 a0001c0034t0041 a0002c0098t0003 others(7): Show a0001c0028t0030 a0001c0034t0041 a0002c0098t0003 a0002c0129t0004 a0004c0001t0006 a0006c0023t0003 a0007c0090t0020 a0007c0114t0002 a0008c0097t0002 a0020c0123t0001	a0001c0028t0030g0073 a0001c0034t0041g0112 a0002c0098t0003g0032 others(7): Show a0001c0028t0030g0073 a0001c0034t0041g0112 a0002c0098t0003g0032 a0002c0129t0004g0030 a0004c0001t0006g0046 a0006c0023t0003g0027 a0007c0090t0020g0056 a0007c0114t0002g0105 a0008c0097t0002g0118 a0020c0123t0001g0003	10	166	0.0602	-38	c.264 others(57): Show c.2645+5864_2645+5901delCATATATACATATATATATACATATA CACACATATATA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78142697	ATGTATGT others(31): Show ATGTATGTGTATATATATACATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG01257.hp2 others(3): Show HG01123.hp2 HG01255.hp2 HG01257.hp2 HG02300.hp1 NA18998.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0055 a0001c0001 a0001c0055	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0055t0008	a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0003g0141 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0003g0141 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0055t0008g0090	6	186	0.0323	-38	c.468 others(57): Show c.4683+2369_4683+2406delGTGTATATATATACATATATATGTGT GTGTGTGTGTAT	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	20/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBEA_chr13_34937270_35677736	35321638	GCTGCTCT others(31): Show GCTGCTCTTTTCAGAGCCAGTGGGCAGGAACATTTAAGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp2 HG02630.hp1 others(4): Show HG01496.hp1 HG02280.hp2 HG02630.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0006 a0001c0001t0014 a0001c0002t0013 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0002t0013 a0006c0010t0006	a0001c0001t0006g0033 a0001c0001t0006g0040 a0001c0001t0006g0041 others(4): Show a0001c0001t0006g0033 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0043 a0001c0001t0014g0042 a0001c0002t0013g0045 a0006c0010t0006g0039	7	122	0.0574	-38	c.590 others(59): Show c.5903+12052_5903+12089delCTTTTCAGAGCCAGTGGGCAGGAA CATTTAAGTCTGCT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	36/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF8_chr1_120410035_120474676	120431301	ATTATCAT others(31): Show ATTATCATCTCCAAATAGGGAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(4): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0018 others(1): Show a0001c0002 a0001c0007 a0001c0018 a0001c0044	a0001c0002t0002 a0001c0007t0007 a0001c0018t0018 others(1): Show a0001c0002t0002 a0001c0007t0007 a0001c0018t0018 a0001c0044t0031	a0001c0002t0002g0019 a0001c0007t0007g0003 a0001c0007t0007g0091 others(3): Show a0001c0002t0002g0019 a0001c0007t0007g0003 a0001c0007t0007g0091 a0001c0007t0007g0093 a0001c0018t0018g0072 a0001c0044t0031g0064	7	292	0.0240	-38	c.-29 others(57): Show c.-292+3493_-292+3530delTTATCATCTCCAAATAGGGAATATAT ATATATATATAT	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAM2_chr21_20993409_21548329	21403968	GTCAGGCT others(31): Show GTCAGGCTTAATATATGGTATCATAATACTGTTAAAATT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0018 a0003c0006t0005 a0003c0006t0018	a0003c0006t0005g0065 a0003c0006t0018g0016 a0003c0006t0005g0065 a0003c0006t0018g0016	2	132	0.0152	-38	c.119 others(57): Show c.1196-6304_1196-6267delCAGGCTTAATATATGGTATCATAATA CTGTTAAAATTT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPD2_chr12_6489102_6536955	6504186	TATATATA others(31): Show TATATATATATATATATATATATATATATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20129.hp2 HG02055.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0281 a0001c0007t0012g0402 a0001c0007t0012g0281 a0001c0007t0012g0402	2	432	0.0046	-38	c.128 others(55): Show c.128-5511_128-5474delTATATATATATAGATATAGATATATATA TATATATATA	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCBP2L_chrX_107772733_107800829	107782172	TATATATA others(31): Show TATATATATAAATATATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	303	0.0033	-38	c.-73 others(55): Show c.-73+4324_-73+4361delAATATATATATATAAATATATATATATA AATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782184	TATATATA others(31): Show TATATATATATAAATATATATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0244 a0001c0002t0004g0244	1	303	0.0033	-38	c.-73 others(55): Show c.-73+4338_-73+4375delAATATATATATATAAATATATATATAAA TATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782198	TATATATA others(31): Show TATATATATATAAATATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	303	0.0033	-38	c.-73 others(55): Show c.-73+4352_-73+4389delAATATATATATAAATATATATATATAAA TATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782250	AATATATA others(31): Show AATATATATATAAATATATATATATAAATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	303	0.0033	-38	c.-73 others(55): Show c.-73+4416_-73+4453delTAAATATATATAAATATATATATATAAA TATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOA6_chr20_34709774_34830651	34817171	ATGGGTAC others(31): Show ATGGGTACTACGGAACTGATATTCAACAGATTCAATATC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18980.hp1 HG02647.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0158 a0001c0001t0001g0116 a0001c0001t0001g0158	2	290	0.0069	-38	c.-16 others(57): Show c.-164+8263_-164+8300delGATATTGAATCTGTTGAATATCAGTT CCGTAGTACCCA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCR1_chr19_54901148_54918073	54903435	CATACATG others(31): Show CATACATGTATGTATATACATATATGTATGTATACACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(87): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01123.hp2 HG01261.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG03017.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(31): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0018 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0040 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095	90	457	0.1969	-38	c.-27 others(49): Show c.-2752_-2715delATACATGTATGTATATACATATATGTATGTATAC ACGG	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2712		chr19	TogoVar
NCS1_chr9_130167404_130242303	130221393	TATATATA others(31): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0155 a0001c0002t0155	a0001c0002t0155g0344 a0001c0002t0155g0344	1	348	0.0029	-38	c.308 others(55): Show c.308-1255_308-1218delTATATATATATATATATATAGAGAGAGA GAGAGAGAGA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDFIP1_chr5_142103779_142159440	142153382	GTATATCC others(31): Show GTATATCCAGAATCAGCATAGGAAGTCGTTCAGGATATC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0230 a0001c0001t0024g0230	1	392	0.0026	-38	c.16 others(49): Show c.1655_*1692delTATATCCAGAATCAGCATAGGAAGTCGTTCAGGA TATC	NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding	8/8	8709		chr5	TogoVar
NDST4_chr4_114822763_115118620	115117603	CCAACACG others(31): Show CCAACACGAAAGGCTATAACTCTTTTTTAAAAGAAAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	190	0.0053	-38	c.-44 others(49): Show c.-4444_-4407delCTTTTTCTTTTAAAAAAGAGTTATAGCCTTTCGT GTTG	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding		3984		chr4	TogoVar
NDUFS5_chr1_39021350_39039615	39024902	TTATATAT others(31): Show TTATATATATATATATTTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03471.hp2 NA20129.hp1 HG02145.hp2 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0110 a0001c0001t0001g0032 a0001c0001t0001g0110	3	438	0.0069	-38	c.-15 others(49): Show c.-1502_-1465delTATATATATATATATTTATATATATATATATATA TATA	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1447		chr1	TogoVar
NDUFS6_chr5_1796407_1821048	1810747	CGGCTCAG others(31): Show CGGCTCAGCTCTGCTAATCGTTGTCGGAGTGGCCAGTCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	444	0.0045	-38	c.187 others(55): Show c.187-3577_187-3540delAATCGTTGTCGGAGTGGCCAGTCTGGCT CAGCTCTGCT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS7_chr19_1378907_1400584	1400165	GGGGCAGG others(31): Show GGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01515.hp2 others(16): Show HG01106.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0002g0011 a0001c0001t0002g0012 others(8): Show a0001c0001t0001g0177 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182	19	418	0.0455	-38	c.46 others(49): Show c.4678_*4715delGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGA TGCA	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding		4582		chr19	TogoVar
NDUFV3_chr21_42888309_42918299	42910510	AAGTAGGA others(31): Show AAGTAGGAAGAGGTGAAGTTTCGTGCAGTACAGGGACGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 NA18965.hp2 HG02109.hp2 NA18965.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0033 a0003c0004t0044 a0002c0002t0033 a0003c0004t0044	a0002c0002t0033g0241 a0003c0004t0044g0210 a0002c0002t0033g0241 a0003c0004t0044g0210	2	348	0.0058	-38	c.15 others(49): Show c.1553_*1590delAGTACAGGGACGGAGTAGGAAGAGGTGAAGTTTC GTGC	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	4/4	1553	INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42910683	CGTGCGGT others(31): Show CGTGCGGTGCAGGGACGGAGTAGGAAGAGGTGAAGTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG01433.hp2 HG00099.hp2 HG01175.hp1 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0079 a0002c0002t0080 a0002c0002t0055 a0002c0002t0079 a0002c0002t0080	a0002c0002t0055g0037 a0002c0002t0079g0236 a0002c0002t0080g0037 a0002c0002t0055g0037 a0002c0002t0079g0236 a0002c0002t0080g0037	3	348	0.0086	-38	c.16 others(49): Show c.1679_*1716delGAGTAGGAAGAGGTGAAGTTTTGTGCGGTGCAGG GACG	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	4/4	1679	INFO_REALIGN_3_PRIME	chr21	TogoVar
NECTIN1_chr11_119655992_119734200	119712346	CAGTTCAG others(31): Show CAGTTCAGGCCCCCGAGTCTCCACCATAGCCCCGGGCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(45): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02148.hp1 HG02293.hp1 HG02683.hp1 HG03239.hp1 HG03654.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp1 NA18957.hp2 NA18960.hp2 NA18968.hp2 NA18970.hp2 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp2 NA19063.hp1 NA19070.hp1 NA19077.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0001t0037 a0001c0001t0044 a0007c0010t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 others(40): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0290 a0001c0001t0002g0007 a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0005g0252 a0001c0001t0016g0153 a0001c0001t0016g0247 a0001c0001t0024g0030 a0001c0001t0026g0227 a0001c0001t0035g0207 a0001c0001t0037g0237 a0001c0001t0044g0135 a0007c0010t0002g0297	48	348	0.1379	-38	c.79+ others(55): Show c.79+16091_79+16128delATGCCCGGGGCTATGGTGGAGACTCGGG GGCCTGAACT	NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding	1/5			chr11	TogoVar
NEDD1_chr12_96902257_96958780	96930187	ACACACAC others(31): Show ACACACACACACACACACACACACACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	400	0.0025	-38	c.490 others(55): Show c.490-4787_490-4750delACACACACACACACACACACACACTCTC TCTCTCTCTC	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEK11_chr3_131021877_131355465	131203763	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG00597.hp1 HG01257.hp2 HG01258.hp2 NA19000.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0001 a0005c0007t0001 a0003c0004t0001 a0005c0007t0001	a0003c0004t0001g0276 a0003c0004t0001g0277 a0005c0007t0001g0106 others(1): Show a0003c0004t0001g0276 a0003c0004t0001g0277 a0005c0007t0001g0106 a0005c0007t0001g0107	4	292	0.0137	-38	c.140 others(59): Show c.1400-24763_1400-24726delGTGTATATATATATATATATATAT ATATATATATATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131203765	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02630.hp1 NA19030.hp1 HG01346.hp2 HG02630.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0010 a0003c0003t0001g0205 a0003c0003t0001g0273 a0002c0002t0001g0010 a0003c0003t0001g0205 a0003c0003t0001g0273	3	292	0.0103	-38	c.140 others(59): Show c.1400-24761_1400-24724delGTATATATATATATATATATATAT ATATATATATATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131203767	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	292	0.0034	-38	c.140 others(59): Show c.1400-24738_1400-24701delTATATATATATATATATATATATA TATATATATATATA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NELFCD_chr20_58976256_59000113	58981195	TCCCGCCC others(31): Show TCCCGCCCGGGCCGAGGCGCGCGGCCGCGCGTGCGCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19079.hp2 NA19058.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	438	0.0046	-38	c.-11 others(46): Show c.-114_-77delCCCGCCCGGGCCGAGGCGCGCGGCCGCGCGTGCGCCC G	NELFCD	ENSG00000101158.15	transcript	ENST00000652272.2	protein_coding		60		chr20	TogoVar
NELL1_chr11_20664586_21580686	20988420	CATATGTG others(31): Show CATATGTGTGTATATATATCTATATATACACATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01496.hp1 HG01884.hp1 others(10): Show HG01169.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02965.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0002c0003 a0002c0007 a0010c0019	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0007t0001 a0010c0019t0001	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0004t0001g0043 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0004t0001g0043 a0001c0004t0001g0084 a0001c0005t0001g0068 a0001c0008t0001g0036 a0002c0002t0001g0006 a0002c0002t0001g0052 a0002c0003t0001g0003 a0002c0003t0001g0060 a0002c0003t0004g0044 a0002c0007t0001g0028 a0010c0019t0001g0031	13	88	0.1477	-38	c.130 others(59): Show c.1300+27916_1300+27953delTCTATATATACACATGTACATATA TGTGTGTATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NETO1_chr18_72738756_72872987	72772809	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0144 a0001c0001t0036g0144	1	348	0.0029	-38	c.868 others(57): Show c.868+10831_868+10868delTATATATATATATATATATATAGAGA GAGAGAGAGAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NEU4_chr2_241804193_241822413	241805186	GCCAGGGA others(31): Show GCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00280.hp1 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	2	319	0.0063	-38	c.-40 others(49): Show c.-4091_-4054delCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCT CAAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		4006		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805195	GTCTGCAG others(31): Show GTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	319	0.0031	-38	c.-40 others(49): Show c.-4082_-4045delTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3997		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805198	TGCAGGCC others(31): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02735.hp2 NA18962.hp1 HG02071.hp1 HG02735.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0001g0170 a0001c0002t0001g0088 a0001c0001t0001g0127 a0001c0001t0001g0170 a0001c0002t0001g0088	3	319	0.0094	-38	c.-40 others(49): Show c.-4079_-4042delGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3994		chr2	TogoVar
NEXMIF_chrX_74727856_74930452	74786827	ACACACAC others(31): Show ACACACACACACGTGAGCACATGTGCATGTGCGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	224	0.0045	-38	c.-47 others(57): Show c.-47-41168_-47-41131delCACACACGCACATGCACATGTGCTCA CGTGTGTGTGTG	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NFASC_chr1_204823652_205027822	204877022	ATATATAA others(31): Show ATATATAATATATATTTATATATATATAATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01981.hp2 others(1): Show HG01175.hp1 HG01255.hp2 HG01981.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0001c0001t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0097 a0001c0004t0001g0087 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0097 a0001c0004t0001g0087 a0002c0003t0001g0043	4	226	0.0177	-38	c.-19 others(59): Show c.-199-43603_-199-43566delATATATATTTATATATATATAATA TATTTATTTATATA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877022	ATATATAA others(31): Show ATATATAATATATATTTATATATATATAATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG01981.hp1 others(1): Show HG01175.hp2 HG01255.hp1 HG01981.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0160 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0002t0001g0142	4	264	0.0152	-38	c.-91 others(55): Show c.-91+5959_-91+5996delATATATATTTATATATATATAATATATT TATTTATATA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(95): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00597.hp2 HG00639.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0051 a0001c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(94): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0342 a0001c0001t0003g0187 a0001c0001t0003g0223 a0001c0001t0010g0360 a0001c0001t0011g0138 a0001c0001t0011g0139 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0328 a0001c0001t0011g0333 a0001c0001t0011g0334 a0001c0001t0011g0340 a0001c0001t0013g0002 a0001c0001t0013g0034 a0001c0001t0013g0035 a0001c0001t0013g0041 a0001c0001t0021g0153 a0001c0001t0021g0159 a0001c0001t0022g0038 a0001c0001t0022g0043 a0001c0001t0026g0337 a0001c0001t0026g0338 a0001c0001t0029g0372 a0001c0001t0029g0373 a0001c0001t0032g0028 a0001c0001t0033g0015 a0001c0001t0034g0056 a0001c0001t0035g0020 a0001c0001t0036g0046 a0001c0001t0037g0039 a0001c0001t0038g0136 a0001c0001t0039g0050 a0001c0001t0040g0158 a0001c0001t0049g0047 a0001c0001t0051g0257 a0001c0008t0001g0033	98	380	0.2579	-38	c.253 others(53): Show c.253+818_253+855delATATATATATATATATATATATATATATAT ATATATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79463443	TGTTCCCG others(31): Show TGTTCCCGTGTCCATACCGGCCTCTCCTCCCCACAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG03041.hp1 others(5): Show HG01106.hp2 HG02486.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0018 a0001c0034 others(2): Show a0001c0015 a0001c0018 a0001c0034 a0001c0055 a0001c0056	a0001c0015t0007 a0001c0018t0004 a0001c0018t0009 others(4): Show a0001c0015t0007 a0001c0018t0004 a0001c0018t0009 a0001c0018t0053 a0001c0034t0011 a0001c0055t0045 a0001c0056t0009	a0001c0015t0007g0285 a0001c0018t0004g0303 a0001c0018t0009g0128 others(5): Show a0001c0015t0007g0285 a0001c0018t0004g0303 a0001c0018t0009g0128 a0001c0018t0009g0176 a0001c0018t0053g0059 a0001c0034t0011g0129 a0001c0055t0045g0008 a0001c0056t0009g0137	8	322	0.0248	-38	c.195 others(57): Show c.1959+2103_1959+2140delCTCCCCACAGCCCGTTCCCGTGTCCA TACCGGCCTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51396034	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(118): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0020 a0002c0006 a0003c0008 a0005c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(44): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0003t0002 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0023 a0001c0004t0002 a0001c0004t0005 a0001c0005t0002 a0001c0005t0006 a0001c0007t0002 a0001c0007t0026 a0001c0011t0013 a0001c0020t0006 a0002c0006t0002 a0002c0006t0027 a0003c0008t0002 a0003c0008t0013 a0005c0016t0004	a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0032 others(118): Show a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0146 a0001c0001t0002g0178 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0296 a0001c0001t0002g0310 a0001c0001t0004g0024 a0001c0001t0004g0076 a0001c0001t0004g0088 a0001c0001t0004g0123 a0001c0001t0004g0161 a0001c0001t0004g0278 a0001c0001t0005g0049 a0001c0001t0005g0095 a0001c0001t0005g0101 a0001c0001t0005g0137 a0001c0001t0005g0258 a0001c0001t0006g0034 a0001c0001t0006g0056 a0001c0001t0006g0091 a0001c0001t0006g0106 a0001c0001t0006g0171 a0001c0001t0006g0279 a0001c0001t0009g0244 a0001c0001t0009g0249 a0001c0001t0014g0010 a0001c0001t0014g0021 a0001c0001t0015g0203 a0001c0001t0023g0251 a0001c0001t0029g0260 a0001c0001t0040g0198 a0001c0001t0043g0275 a0001c0001t0044g0061 a0001c0001t0049g0270 a0001c0001t0050g0042 a0001c0001t0053g0187 a0001c0002t0002g0012 a0001c0002t0002g0029 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0002g0097 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0168 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0002g0196 a0001c0002t0002g0209 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0246 a0001c0002t0002g0281 a0001c0002t0002g0291 a0001c0002t0002g0299 a0001c0002t0002g0312 a0001c0002t0003g0051 a0001c0002t0003g0114 a0001c0002t0004g0031 a0001c0002t0004g0040 a0001c0002t0004g0089 a0001c0002t0004g0103 a0001c0002t0004g0133 a0001c0002t0004g0292 a0001c0002t0005g0050 a0001c0002t0005g0094 a0001c0002t0005g0231 a0001c0002t0006g0104 a0001c0002t0007g0277 a0001c0002t0013g0157 a0001c0002t0015g0202 a0001c0002t0015g0207 a0001c0002t0019g0288 a0001c0002t0027g0308 a0001c0002t0034g0014 a0001c0002t0035g0011 a0001c0002t0036g0083 a0001c0002t0038g0225 a0001c0003t0002g0125 a0001c0003t0002g0169 a0001c0003t0002g0173 a0001c0003t0005g0259 a0001c0003t0009g0170 a0001c0003t0009g0303 a0001c0003t0014g0241 a0001c0003t0023g0234 a0001c0004t0002g0192 a0001c0004t0002g0205 a0001c0004t0002g0206 a0001c0004t0005g0005 a0001c0004t0005g0006 a0001c0005t0002g0002 a0001c0005t0006g0190 a0001c0007t0002g0302 a0001c0007t0026g0245 a0001c0011t0013g0233 a0001c0020t0006g0182 a0002c0006t0002g0030 a0002c0006t0002g0066 a0002c0006t0027g0237 a0003c0008t0002g0267 a0003c0008t0013g0139 a0003c0008t0013g0269 a0005c0016t0004g0188	121	316	0.3829	-38	c.44 others(55): Show c.44+2571_*44+2608delTATATATATATATATATATATATATATA TATATACATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51396038	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	316	0.0032	-38	c.44 others(55): Show c.44+2567_*44+2604delTATATATATATATATATATATATATATA TATATATATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02300.hp2 HG01123.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0013 a0001c0001t0003 a0001c0002t0013	a0001c0001t0003g0024 a0001c0002t0013g0012 a0001c0001t0003g0024 a0001c0002t0013g0012	2	156	0.0128	-38	c.560 others(57): Show c.560-77490_560-77453delATATATATATATATATATATATATAT ATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61200030	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02970.hp2 HG02976.hp1 others(7): Show HG02129.hp1 HG02970.hp2 HG02976.hp1 NA18969.hp2 NA19000.hp1 NA19002.hp1 NA19058.hp2 NA19064.hp1 NA19077.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0029 a0001c0001t0034 a0001c0002t0001 a0001c0002t0007 a0001c0002t0033 a0001c0002t0049 a0001c0005t0016	a0001c0001t0001g0084 a0001c0001t0005g0088 a0001c0001t0007g0090 others(7): Show a0001c0001t0001g0084 a0001c0001t0005g0088 a0001c0001t0007g0090 a0001c0001t0029g0069 a0001c0001t0034g0091 a0001c0002t0001g0089 a0001c0002t0007g0085 a0001c0002t0033g0087 a0001c0002t0049g0061 a0001c0005t0016g0076	10	156	0.0641	-38	c.560 others(57): Show c.560-77486_560-77449delATATATATATATATATATATATATAT ATATATATGTAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14216518	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCCCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0099 a0001c0001t0106g0099	1	304	0.0033	-38	c.563 others(57): Show c.563-36776_563-36739delCACACACACAGAGGGAGAGAGAGAGA GAGAGAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216520	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCCCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0003 a0001c0001t0064g0003	1	304	0.0033	-38	c.563 others(57): Show c.563-36778_563-36741delCACACACACACAGAGGGAGAGAGAGA GAGAGAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0224 a0003c0006t0001g0224	1	264	0.0038	-38	c.492 others(55): Show c.492+3168_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar

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