Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02572.hp1 others(1): Show HG02145.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219	4	264	0.0152	-27	c.492 others(44): Show c.492+3179_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTT		NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11						chr3	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18970.hp1 NA19060.hp1 NA18945.hp1 NA18970.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0058 a0002c0002t0001g0087 a0002c0002t0001g0088 a0001c0001t0004g0058 a0002c0002t0001g0087 a0002c0002t0001g0088	3	164	0.0183	-27	c.565 others(46): Show c.565+49223_565+49249delAAAAAAAAAAAAAAAAAAAAAAAAAA A		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523189	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	332	0.0030	-27	c.589 others(42): Show c.589+463_589+489delATATATATATATATATATATATATTTT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG03239.hp1 HG02055.hp1 HG02074.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0003g0291 a0001c0001t0005g0030 a0001c0001t0010g0102 a0001c0001t0003g0291 a0001c0001t0005g0030 a0001c0001t0010g0102	3	332	0.0090	-27	c.589 others(42): Show c.589+459_589+485delATATATATATATATATATATATATATA		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NID1_chr1_235970830_236070090	236003078	GTGGTAGT others(20): Show GTGGTAGTTGTCACTCCTAGTGAACGAC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18940.hp1 NA19090.hp1 HG01993.hp1 NA18940.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0009 a0001c0006 a0004c0009	a0001c0006t0002 a0004c0009t0002 a0001c0006t0002 a0004c0009t0002	a0001c0006t0002g0203 a0001c0006t0002g0277 a0004c0009t0002g0079 a0001c0006t0002g0203 a0001c0006t0002g0277 a0004c0009t0002g0079	3	334	0.0090	-27	c.252 others(46): Show c.2527+8816_2527+8842delGTCGTTCACTAGGAGTGACAACTACC A		NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19						chr1	TogoVar
NID1_chr1_235970830_236070090	236003187	TGGTAGTT others(20): Show TGGTAGTTGTCACTCCTAGTGAACGACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp1 others(148): Show HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0020 a0024 a0026 a0031 a0035 a0037 a0038	a0001c0001 a0001c0006 a0002c0002 others(26): Show a0001c0001 a0001c0006 a0002c0002 a0002c0065 a0003c0007 a0004c0005 a0005c0003 a0005c0019 a0006c0010 a0006c0024 a0006c0059 a0007c0012 a0007c0029 a0008c0023 a0009c0011 a0010c0018 a0011c0015 a0012c0022 a0013c0014 a0014c0025 a0016c0021 a0017c0041 a0020c0028 a0024c0046 a0026c0042 a0031c0062 a0035c0058 a0037c0056 a0038c0050	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 others(36): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0006t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0065t0003 a0003c0007t0001 a0003c0007t0006 a0004c0005t0002 a0005c0003t0001 a0005c0019t0003 a0006c0010t0001 a0006c0024t0003 a0006c0024t0005 a0006c0059t0001 a0007c0012t0002 a0007c0029t0002 a0007c0029t0004 a0008c0023t0003 a0009c0011t0002 a0010c0018t0001 a0011c0015t0003 a0012c0022t0002 a0012c0022t0009 a0013c0014t0001 a0014c0025t0002 a0016c0021t0002 a0017c0041t0002 a0020c0028t0002 a0024c0046t0002 a0026c0042t0001 a0031c0062t0001 a0035c0058t0001 a0037c0056t0001 a0038c0050t0001	a0001c0001t0002g0018 a0001c0001t0002g0131 a0001c0001t0002g0134 others(147): Show a0001c0001t0002g0018 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0013g0272 a0001c0001t0015g0207 a0001c0001t0016g0139 a0001c0006t0002g0259 a0002c0002t0001g0002 a0002c0002t0001g0151 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0201 a0002c0002t0001g0242 a0002c0002t0001g0274 a0002c0002t0001g0294 a0002c0002t0001g0311 a0002c0002t0003g0295 a0002c0002t0005g0293 a0002c0002t0005g0303 a0002c0002t0006g0132 a0002c0065t0003g0330 a0003c0007t0001g0031 a0003c0007t0001g0049 a0003c0007t0001g0287 a0003c0007t0001g0298 a0003c0007t0006g0102 a0004c0005t0002g0030 a0004c0005t0002g0038 a0004c0005t0002g0039 a0004c0005t0002g0042 a0004c0005t0002g0054 a0004c0005t0002g0056 a0004c0005t0002g0057 a0004c0005t0002g0059 a0004c0005t0002g0070 a0004c0005t0002g0083 a0004c0005t0002g0089 a0004c0005t0002g0104 a0004c0005t0002g0112 a0004c0005t0002g0121 a0004c0005t0002g0297 a0005c0003t0001g0130 a0005c0003t0001g0140 a0005c0003t0001g0144 a0005c0003t0001g0149 a0005c0003t0001g0152 a0005c0003t0001g0153 a0005c0003t0001g0154 a0005c0003t0001g0162 a0005c0003t0001g0163 a0005c0003t0001g0164 a0005c0003t0001g0165 a0005c0003t0001g0166 a0005c0003t0001g0180 a0005c0003t0001g0182 a0005c0003t0001g0189 a0005c0003t0001g0190 a0005c0003t0001g0191 a0005c0003t0001g0194 a0005c0003t0001g0195 a0005c0003t0001g0223 a0005c0003t0001g0224 a0005c0003t0001g0225 a0005c0003t0001g0229 a0005c0003t0001g0246 a0005c0003t0001g0248 a0005c0003t0001g0258 a0005c0019t0003g0280 a0005c0019t0003g0309 a0006c0010t0001g0044 a0006c0010t0001g0046 a0006c0010t0001g0048 a0006c0010t0001g0050 a0006c0010t0001g0051 a0006c0010t0001g0076 a0006c0010t0001g0086 a0006c0010t0001g0091 a0006c0010t0001g0097 a0006c0010t0001g0110 a0006c0010t0001g0114 a0006c0010t0001g0133 a0006c0024t0003g0111 a0006c0024t0003g0128 a0006c0024t0005g0024 a0006c0059t0001g0098 a0007c0012t0002g0022 a0007c0012t0002g0045 a0007c0012t0002g0047 a0007c0012t0002g0052 a0007c0012t0002g0078 a0007c0029t0002g0126 a0007c0029t0004g0063 a0008c0023t0003g0011 a0009c0011t0002g0178 a0009c0011t0002g0227 a0009c0011t0002g0240 a0009c0011t0002g0253 a0009c0011t0002g0262 a0010c0018t0001g0321 a0010c0018t0001g0324 a0010c0018t0001g0325 a0010c0018t0001g0328 a0011c0015t0003g0005 a0011c0015t0003g0006 a0011c0015t0003g0009 a0011c0015t0003g0013 a0012c0022t0002g0014 a0012c0022t0009g0007 a0013c0014t0001g0254 a0013c0014t0001g0256 a0013c0014t0001g0257 a0013c0014t0001g0268 a0014c0025t0002g0322 a0014c0025t0002g0323 a0014c0025t0002g0327 a0016c0021t0002g0155 a0016c0021t0002g0237 a0016c0021t0002g0273 a0017c0041t0002g0312 a0020c0028t0002g0252 a0020c0028t0002g0296 a0024c0046t0002g0004 a0026c0042t0001g0183 a0031c0062t0001g0176 a0035c0058t0001g0125 a0037c0056t0001g0040 a0038c0050t0001g0090	151	334	0.4521	-27	c.252 others(46): Show c.2527+8707_2527+8733delGGTCGTTCACTAGGAGTGACAACTAC C		NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19						chr1	TogoVar
NIM1K_chr5_43187225_43285850	43198191	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	292	0.0034	-27	c.-69 others(46): Show c.-695+5783_-695+5809delTCTTTCTTTCTTTCTCTTTCTTTCTT T		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213186	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	292	0.0034	-27	c.-69 others(48): Show c.-695+20778_-695+20804delCTTTCTTTCTTTCTTTCTTTCTTT CTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213190	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03831.hp1 NA19083.hp2 HG01168.hp1 HG03831.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0038 a0001c0002t0001g0242 a0001c0002t0001g0028 a0001c0002t0001g0038 a0001c0002t0001g0242	3	292	0.0103	-27	c.-69 others(48): Show c.-695+20782_-695+20808delCTTTCTTTCTTTCTTTCTTTCTTT CTT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43279613	TCAAACGA others(20): Show TCAAACGATCCATCAGCCAGAAAAACCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	-27	c.562 others(42): Show c.562-366_562-340delCAAACGATCCATCAGCCAGAAAAACCC		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	3/3						chr5	TogoVar
NIM1K_chr5_43187225_43285850	43280594	TAGAGTCC others(20): Show TAGAGTCCAAAGGAAGAAGGCTTTGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	-27	c.117 others(36): Show c.1179_1205delAGTCCAAAGGAAGAAGGCTTTGGAAAG	p.Arg others(13): Show p.Arg393_Glu401del	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4	2060/2313	1179/1311	393/436		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	588146	TGGCGGAA others(20): Show TGGCGGAAGGAAGGGAAGGGACGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	404	0.0025	-27	c.34- others(44): Show c.34-21995_34-21969delCCTTCCGTCCCTTCCCTTCCTTCCGCC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	640714	TCTTGTAC others(20): Show TCTTGTACTCCTGGCCTCAAGTGATCTA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	404	0.0025	-27	c.33+ others(44): Show c.33+22587_33+22613delTAGATCACTTGAGGCCAGGAGTACAAG		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINL_chr20_25447697_25590531	25493813	ACTCGGGC others(20): Show ACTCGGGCCTTGAGGCCTGGCCCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0189 a0001c0001t0001g0190	2	310	0.0065	-27	c.131 others(46): Show c.1311-2315_1311-2289delGTGCTGGGCCAGGCCTCAAGGCCCGA G		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	10/23						chr20	TogoVar
NINL_chr20_25447697_25590531	25542697	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 NA19062.hp1 HG02572.hp2 HG02717.hp1 NA19062.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0188 a0006c0006t0001g0224 a0006c0006t0001g0225 a0001c0001t0001g0188 a0006c0006t0001g0224 a0006c0006t0001g0225	3	310	0.0097	-27	c.-11 others(46): Show c.-11-16126_-11-16100delTTTTTTTTTTTTTTTTTTTTTTTTTT T		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23						chr20	TogoVar
NIPSNAP2_chr7_55959585_56005179	55963704	TCTCTCTT others(20): Show TCTCTCTTTCTTTCTTTCTCCTGCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	416	0.0024	-27	c.-90 others(36): Show c.-905_-879delCTCTCTTTCTTTCTTTCTCCTGCCTCC		NIPSNAP2	ENSG00000146729.10	transcript	ENST00000322090.8	protein_coding					880		chr7	TogoVar
NIPSNAP2_chr7_55959585_56005179	55963708	TCTTTCTT others(20): Show TCTTTCTTTCTTTCTCCTGCCTCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02970.hp2 others(1): Show HG01109.hp1 HG02622.hp2 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 others(1): Show a0001c0001t0002g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275	4	416	0.0096	-27	c.-90 others(36): Show c.-901_-875delCTTTCTTTCTTTCTCCTGCCTCCCTCC		NIPSNAP2	ENSG00000146729.10	transcript	ENST00000322090.8	protein_coding					876		chr7	TogoVar
NKAIN3_chr8_62243854_62989904	62427932	ATTTTATT others(20): Show ATTTTATTTCTTCTATCTAACTGTATTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0076 a0001c0001t0088g0076	1	144	0.0069	-27	c.55- others(46): Show c.55-151604_55-151578delTTATTTCTTCTATCTAACTGTATTTT T		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62759091	TTAAAAAT others(20): Show TTAAAAATTACATTCTCTTAACCATAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	144	0.0069	-27	c.471 others(46): Show c.471+11963_471+11989delTAAAAATTACATTCTCTTAACCATAA A		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6						chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	CCTTCTTC others(20): Show CCTTCTTCTTCTTCCTCCTCCTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA18991.hp2 HG00735.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	434	0.0046	-27	c.-19 others(38): Show c.-1910_-1884delAAGAAGAGGAGGAGGAAGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708495	CTCCTCCT others(20): Show CTCCTCCTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	434	0.0023	-27	c.-19 others(38): Show c.-1924_-1898delAGAAGAAGAAGAAGAAGAAGAGGAGGA		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1740		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708498	CTCCTCTT others(20): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-27	c.-19 others(38): Show c.-1927_-1901delAGAAGAAGAAGAAGAAGAAGAAGAGGA		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1743		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6116387	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	128	0.0078	-27	c.472 others(46): Show c.472+34581_472+34607delAAAAAAAAAAAAAAAAAAAAAAAGAA A		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5						chrX	TogoVar
NLRP2_chr19_54961374_55006138	54975106	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0400 a0002c0003t0003g0400	1	429	0.0023	-27	c.325 others(42): Show c.325+573_325+599delTTTTTTTTTTTTTTTTTTTTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54998611	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTCCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp2 HG02970.hp2 others(1): Show HG02004.hp2 HG02896.hp2 HG02970.hp2 NA19240.hp1	a0021 a0022 a0023 others(1): Show a0021 a0022 a0023 a0030	a0021c0062 a0022c0061 a0023c0059 others(1): Show a0021c0062 a0022c0061 a0023c0059 a0030c0045	a0021c0062t0015 a0022c0061t0015 a0023c0059t0016 others(1): Show a0021c0062t0015 a0022c0061t0015 a0023c0059t0016 a0030c0045t0016	a0021c0062t0015g0376 a0022c0061t0015g0291 a0023c0059t0016g0276 others(1): Show a0021c0062t0015g0376 a0022c0061t0015g0291 a0023c0059t0016g0276 a0030c0045t0016g0002	4	429	0.0093	-27	c.305 others(46): Show c.3050+1139_3050+1165delTTTTCCTTTTTTTTTTTTTTTTTTTT T		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957670	TAATTATA others(20): Show TAATTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0032 a0003c0027t0032	a0003c0027t0032g0234 a0003c0027t0032g0234	1	350	0.0029	-27	c.204 others(46): Show c.2042+1571_2042+1597delAATTATATATATATATATATATATAT A		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(20): Show AATTATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0006 a0000c0002t0006	a0000c0002t0006g0260 a0000c0002t0006g0260	1	350	0.0029	-27	c.204 others(46): Show c.2042+1574_2042+1600delTATATATATATATATATATATATATA T		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME7_chr1_169127531_169372797	169342580	ATATATAT others(20): Show ATATATATATACAAGTACATATATATAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	302	0.0033	-27	c.4-1 others(42): Show c.4-18107_4-18081delCTATATATATGTACTTGTATATATATA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME7_chr1_169127531_169372797	169342822	ATATATAT others(20): Show ATATATATACAAGTACATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG02451.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	302	0.0066	-27	c.4-1 others(42): Show c.4-18349_4-18323delCTATATATATATGTACTTGTATATATA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37848225	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18957.hp1 NA18747.hp2 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0217 a0002c0008t0001g0237 a0002c0002t0001g0217 a0002c0008t0001g0237	2	388	0.0052	-27	c.-74 others(36): Show c.-743_-717delAGAAGAAGAAGAAGAAGAAGGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					371		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389817	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	258	0.0039	-27	c.85+ others(44): Show c.85+28339_85+28365delCTTTCTTTCTTTCTTTCTTTCTTTCTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389824	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02486.hp2 HG03942.hp1 others(5): Show HG01975.hp2 HG02486.hp2 HG03942.hp1 NA18906.hp1 NA18950.hp2 NA18968.hp2 NA19004.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(4): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0031 a0001c0001t0037 a0001c0001t0091	a0001c0001t0003g0029 a0001c0001t0012g0039 a0001c0001t0014g0070 others(5): Show a0001c0001t0003g0029 a0001c0001t0012g0039 a0001c0001t0014g0070 a0001c0001t0014g0072 a0001c0001t0019g0012 a0001c0001t0031g0056 a0001c0001t0037g0068 a0001c0001t0091g0257	8	258	0.0310	-27	c.85+ others(44): Show c.85+28332_85+28358delTTTTTTCCTTTCTTTCTTTCTTTCTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMT2_chr10_15100770_15173693	15112194	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0078 a0001c0001t0012g0078	1	276	0.0036	-27	c.133 others(44): Show c.1338+575_1338+601delAAAAATATATATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112200	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0018 a0001c0002t0012g0018	1	276	0.0036	-27	c.133 others(44): Show c.1338+569_1338+595delAAAAAAAAAAATATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112208	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0268 a0001c0002t0018g0271 a0001c0002t0018g0268 a0001c0002t0018g0271	2	276	0.0073	-27	c.133 others(44): Show c.1338+561_1338+587delAAAAAAAAAAAAAAAAAAATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15147095	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0150 a0001c0003t0008g0150	1	276	0.0036	-27	c.111 others(44): Show c.111-5565_111-5539delTTTTTTTTTTTTTTTTTTTTTTTTTTT		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11						chr10	TogoVar
NMUR2_chr5_152386546_152410279	152407845	TATATATA others(20): Show TATATATATTATATATAATATATATAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	446	0.0045	-27	c.-27 others(38): Show c.-2759_-2733delCTTATATATATTATATATAATATATAT		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding					2567		chr5	TogoVar
NOL4L_chr20_32438059_32590333	32488791	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0012 a0001c0001t0035g0012	1	196	0.0051	-27	c.700 others(46): Show c.700-14076_700-14050delAGAAAGAAAGAAAAAGAAAGAAAGAA A		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL6_chr9_33456353_33478924	33475152	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	2	438	0.0046	-27	c.-13 others(38): Show c.-1337_-1311delAAAAAAATATATATATATATATATATA		NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding					1229		chr9	TogoVar
NOM1_chr7_156944712_156978176	156976415	TCCCAGGT others(20): Show TCCCAGGTTCAAGCGATTCTCCTGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	1	426	0.0024	-27	c.67 others(38): Show c.6713_*6739delCCCAGGTTCAAGCGATTCTCCTGCCTC		NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding					3240		chr7	TogoVar
NOS1AP_chr1_162064691_162375475	162261508	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0155 a0001c0003t0007g0155	1	182	0.0055	-27	c.178 others(46): Show c.178-25835_178-25809delAGAGAGAGAGAGAGAGAGAGAGAGAG A		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1_chr12_117203142_117366626	117263575	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0097 a0001c0009t0097	a0001c0009t0097g0260 a0001c0009t0097g0260	1	294	0.0034	-27	c.222 others(44): Show c.2222+287_2222+313delATAATAATAATAATAATAATAATAATA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	13/28						chr12	TogoVar
NOS3_chr7_150986017_151019588	150997169	AGAAGTCT others(20): Show AGAAGTCTAGACCTGCTGCAGGGGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(64): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG02071.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp2 NA18939.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18968.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0013	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0024 a0001c0033 a0002c0003 a0003c0006 a0003c0037 a0005c0007 a0006c0012 a0013c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0001 a0001c0024t0001 a0001c0033t0001 a0002c0003t0001 a0003c0006t0001 a0003c0037t0001 a0005c0007t0001 a0006c0012t0001 a0013c0026t0001	a0001c0001t0001g0053 a0001c0001t0001g0284 a0001c0001t0001g0303 others(60): Show a0001c0001t0001g0053 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0002t0001g0010 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0328 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0004g0286 a0001c0010t0001g0083 a0001c0024t0001g0085 a0001c0033t0001g0082 a0002c0003t0001g0052 a0003c0006t0001g0093 a0003c0006t0001g0334 a0003c0006t0001g0335 a0003c0006t0001g0336 a0003c0006t0001g0337 a0003c0037t0001g0332 a0005c0007t0001g0050 a0005c0007t0001g0087 a0005c0007t0001g0088 a0006c0012t0001g0292 a0006c0012t0001g0294 a0013c0026t0001g0269	67	382	0.1754	-27	c.582 others(42): Show c.582+317_582+343delAGGGGTGAGGAAGTCTAGACCTGCTGC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	5/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH3_chr19_15154038_15205995	15173733	AAAAAAAA others(20): Show AAAAAAAAAGAAAAGAAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 NA18906.hp1 HG03098.hp2 HG03209.hp2 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0041 a0003c0004 a0003c0041	a0003c0004t0001 a0003c0041t0001 a0003c0004t0001 a0003c0041t0001	a0003c0004t0001g0010 a0003c0004t0001g0136 a0003c0041t0001g0322 a0003c0004t0001g0010 a0003c0004t0001g0136 a0003c0041t0001g0322	3	340	0.0088	-27	c.473 others(44): Show c.4736+308_4736+334delCCTTCTCCTTCTTCTTTTCTTTTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NPAS3_chr14_32933879_33809173	32939135	CGCCGCCA others(20): Show CGCCGCCACGGCCACGGCCACGGCCCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp2 HG03239.hp1 HG00738.hp2 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0016 a0002c0005t0015 a0001c0001t0016 a0002c0005t0015	a0001c0001t0016g0064 a0002c0005t0015g0068 a0001c0001t0016g0064 a0002c0005t0015g0068	2	92	0.0217	-27	c.-17 others(36): Show c.-178_-152delGCCACGGCCACGGCCACGGCCCCGGCC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/12				152	INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105636	GTGATGGT others(20): Show GTGATGGTGGATGTGATGGGGGTGGGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0113 a0001c0002t0113	a0001c0002t0113g0083 a0001c0002t0113g0083	1	355	0.0028	-27	c.16 others(36): Show c.167_*193delTGCCCACCCCCATCACATCCACCATCA		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				167		chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58703761	GGCCTTCC others(20): Show GGCCTTCCCTAGAGGCCACAGCTGCACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp1 others(36): Show HG00280.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01891.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0002c0002 a0002c0008 a0002c0010 a0003c0019	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0005t0001 a0001c0014t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0002c0010t0004 a0003c0019t0009	a0001c0001t0001g0244 a0001c0003t0001g0038 a0001c0003t0001g0049 others(31): Show a0001c0001t0001g0244 a0001c0003t0001g0038 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0083 a0001c0003t0003g0183 a0001c0003t0010g0182 a0001c0005t0001g0030 a0001c0005t0001g0064 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0014t0003g0085 a0001c0014t0003g0086 a0002c0002t0002g0054 a0002c0002t0004g0027 a0002c0002t0004g0029 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0080 a0002c0002t0007g0029 a0002c0008t0004g0241 a0002c0010t0004g0019 a0002c0010t0004g0070 a0003c0019t0009g0069	39	398	0.0980	-27	c.822 others(44): Show c.822+2610_822+2636delCCTAGAGGCCACAGCTGCACAGCCTTC		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NPHP4_chr1_5857811_5997425	5882166	ACTTACCC others(20): Show ACTTACCCAGCCATCTCTCAGTGGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01884.hp2 others(29): Show HG00609.hp1 HG01074.hp1 HG01884.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18971.hp2 NA19007.hp1 NA19012.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0033 a0002c0031 a0003c0007 a0011c0020 a0013c0021	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0011t0001 a0001c0033t0003 a0002c0031t0001 a0003c0007t0003 a0011c0020t0001 a0013c0021t0001	a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0080 others(28): Show a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0002t0001g0112 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0003t0001g0067 a0001c0003t0001g0119 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0011t0001g0035 a0001c0033t0003g0019 a0002c0031t0001g0137 a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 a0011c0020t0001g0168 a0013c0021t0001g0202	32	208	0.1539	-27	c.248 others(46): Show c.2486-1954_2486-1928delCGCGCCACTGAGAGATGGCTGGGTAA G		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5882324	GCGCGCTT others(20): Show GCGCGCTTACCCAGCCATCTCTCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02602.hp1 HG02735.hp2 HG00741.hp1 HG02602.hp1 HG02735.hp2	a0004 a0004	a0004c0009 a0004c0016 a0004c0009 a0004c0016	a0004c0009t0001 a0004c0016t0001 a0004c0009t0001 a0004c0016t0001	a0004c0009t0001g0186 a0004c0009t0001g0192 a0004c0016t0001g0184 a0004c0009t0001g0186 a0004c0009t0001g0192 a0004c0016t0001g0184	3	208	0.0144	-27	c.248 others(46): Show c.2486-2112_2486-2086delTCACTGAGAGATGGCTGGGTAAGCGC G		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29						chr1	TogoVar
NPIPB4_chr16_21829582_21862756	21849446	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18999.hp1 NA18983.hp1 NA18999.hp1	a0004 a0064 a0004 a0064	a0004c0004 a0064c0091 a0004c0004 a0064c0091	a0004c0004t0001 a0064c0091t0001 a0004c0004t0001 a0064c0091t0001	a0004c0004t0001g0105 a0064c0091t0001g0086 a0004c0004t0001g0105 a0064c0091t0001g0086	2	204	0.0098	-27	c.121 others(44): Show c.121-1932_121-1906delTTTTTTTTTTTTTTTTTTTTTTTTTTT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar

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