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
MYO6_chr6_75744239_75924537	75785146	G G	GATGTATA others(38): Show GATGTATATTAATTGCTGTCTGTTCTATTGCTGGGCAAACAGAGGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0144 a0001c0001t0026g0144	1	358	0.0028	45	c.-47 others(64): Show c.-47-32351_-47-32307dupTATATTAATTGCTGTCTGTTCTATTG CTGGGCAAACAGAGGAATG		MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO7A_chr11_77123246_77220241	77192839	T T	TGGAGGTA others(38): Show TGGAGGTAGTGATGGTGTTGGTACTGATGATGGTGGTGATGGTGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0087	1	356	0.0028	45	c.415 others(62): Show c.4152+583_4152+584insCTGATGATGGTGGTGATGGTGGAGGAGG TAGTGATGGTGTTGGTA		MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18947.hp2 HG03471.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0002t0007 a0001c0001t0055 a0001c0002t0007	a0001c0001t0055g0006 a0001c0002t0007g0015 a0001c0001t0055g0006 a0001c0002t0007g0015	2	308	0.0065	45	c.218 others(64): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT		MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41						chr15	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	240	0.0042	45	c.88+ others(60): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53						chr10	TogoVar
MYOM2_chr8_2040046_2150456	2089227	T T	TCAAGGTT others(38): Show TCAAGGTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0125 a0001c0065t0001g0125	1	403	0.0025	45	c.164 others(62): Show c.1645-771_1645-770insTTTTTTTTTTTTGAGACAGAGTCTCGCT CTGTCGCCAAGGTTTTT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2089227	T T	TCAAGGTT others(38): Show TCAAGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(234): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(58): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0021 a0022 a0023 a0024 a0029 a0030 a0031 a0034 a0035 a0037 a0038 a0040 a0041 a0042 a0043 a0046 a0047 a0050 a0051 a0052 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0073 a0074 a0080 a0081 a0082 a0086 a0088 a0092	a0001c0002 a0001c0003 a0001c0009 others(106): Show a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0001c0023 a0001c0038 a0001c0039 a0001c0117 a0001c0118 a0001c0128 a0001c0145 a0002c0006 a0002c0017 a0002c0040 a0002c0041 a0002c0042 a0002c0048 a0002c0068 a0002c0102 a0002c0120 a0002c0121 a0002c0123 a0002c0124 a0002c0129 a0002c0147 a0003c0001 a0003c0004 a0003c0069 a0003c0156 a0003c0157 a0004c0007 a0004c0051 a0004c0158 a0004c0159 a0005c0005 a0005c0109 a0005c0146 a0006c0013 a0006c0201 a0007c0010 a0008c0008 a0009c0012 a0009c0162 a0010c0056 a0010c0199 a0011c0182 a0011c0184 a0012c0011 a0013c0030 a0013c0031 a0013c0080 a0014c0113 a0014c0114 a0015c0057 a0015c0209 a0016c0075 a0016c0077 a0016c0078 a0017c0026 a0017c0173 a0019c0058 a0021c0028 a0022c0043 a0023c0021 a0024c0055 a0029c0180 a0029c0183 a0030c0054 a0031c0050 a0034c0127 a0035c0125 a0035c0170 a0037c0133 a0037c0134 a0038c0131 a0038c0132 a0040c0059 a0040c0060 a0041c0210 a0042c0192 a0043c0212 a0046c0200 a0047c0202 a0050c0213 a0051c0190 a0052c0186 a0055c0169 a0056c0168 a0057c0167 a0058c0150 a0059c0148 a0060c0149 a0061c0166 a0062c0154 a0063c0155 a0064c0163 a0065c0161 a0066c0079 a0067c0076 a0068c0082 a0069c0083 a0073c0112 a0074c0126 a0080c0141 a0081c0119 a0082c0111 a0086c0085 a0088c0172 a0092c0062	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(122): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0009t0001 a0001c0009t0002 a0001c0022t0001 a0001c0023t0001 a0001c0038t0001 a0001c0039t0001 a0001c0117t0004 a0001c0118t0002 a0001c0128t0001 a0001c0145t0002 a0002c0006t0001 a0002c0017t0001 a0002c0040t0001 a0002c0041t0001 a0002c0042t0001 a0002c0042t0002 a0002c0048t0003 a0002c0068t0001 a0002c0102t0002 a0002c0120t0001 a0002c0121t0006 a0002c0123t0001 a0002c0124t0002 a0002c0129t0001 a0002c0147t0002 a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0004t0001 a0003c0004t0002 a0003c0069t0001 a0003c0156t0002 a0003c0157t0001 a0004c0007t0001 a0004c0007t0002 a0004c0051t0001 a0004c0051t0002 a0004c0158t0002 a0004c0159t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0109t0002 a0005c0146t0004 a0006c0013t0001 a0006c0013t0005 a0006c0201t0005 a0007c0010t0001 a0008c0008t0001 a0009c0012t0001 a0009c0012t0002 a0009c0162t0002 a0010c0056t0001 a0010c0056t0002 a0010c0199t0001 a0011c0182t0002 a0011c0184t0001 a0012c0011t0001 a0013c0030t0002 a0013c0031t0001 a0013c0031t0002 a0013c0080t0001 a0014c0113t0001 a0014c0114t0001 a0015c0057t0001 a0015c0209t0004 a0016c0075t0002 a0016c0077t0001 a0016c0078t0002 a0017c0026t0001 a0017c0173t0002 a0019c0058t0001 a0019c0058t0002 a0021c0028t0001 a0022c0043t0001 a0023c0021t0001 a0024c0055t0001 a0029c0180t0001 a0029c0183t0001 a0030c0054t0001 a0031c0050t0001 a0034c0127t0001 a0035c0125t0001 a0035c0170t0001 a0037c0133t0001 a0037c0134t0001 a0038c0131t0001 a0038c0132t0001 a0040c0059t0001 a0040c0060t0001 a0041c0210t0001 a0042c0192t0002 a0043c0212t0001 a0046c0200t0001 a0047c0202t0001 a0050c0213t0005 a0051c0190t0001 a0052c0186t0001 a0055c0169t0001 a0056c0168t0002 a0057c0167t0001 a0058c0150t0001 a0059c0148t0002 a0060c0149t0001 a0061c0166t0001 a0062c0154t0001 a0063c0155t0001 a0064c0163t0001 a0065c0161t0001 a0066c0079t0001 a0067c0076t0001 a0068c0082t0001 a0069c0083t0004 a0073c0112t0001 a0074c0126t0001 a0080c0141t0001 a0081c0119t0001 a0082c0111t0002 a0086c0085t0002 a0088c0172t0001 a0092c0062t0002	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0216 others(232): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0324 a0001c0002t0001g0383 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0021 a0001c0002t0002g0371 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0308 a0001c0003t0001g0046 a0001c0009t0001g0204 a0001c0009t0001g0366 a0001c0009t0002g0010 a0001c0009t0002g0015 a0001c0009t0002g0278 a0001c0022t0001g0073 a0001c0022t0001g0083 a0001c0022t0001g0396 a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 a0001c0038t0001g0076 a0001c0038t0001g0077 a0001c0039t0001g0012 a0001c0039t0001g0363 a0001c0117t0004g0283 a0001c0118t0002g0320 a0001c0128t0001g0386 a0001c0145t0002g0364 a0002c0006t0001g0006 a0002c0006t0001g0027 a0002c0006t0001g0044 a0002c0006t0001g0078 a0002c0006t0001g0117 a0002c0006t0001g0118 a0002c0006t0001g0120 a0002c0006t0001g0140 a0002c0006t0001g0395 a0002c0017t0001g0071 a0002c0017t0001g0233 a0002c0017t0001g0321 a0002c0017t0001g0330 a0002c0040t0001g0054 a0002c0040t0001g0139 a0002c0041t0001g0084 a0002c0041t0001g0394 a0002c0042t0001g0315 a0002c0042t0002g0135 a0002c0048t0003g0128 a0002c0048t0003g0199 a0002c0068t0001g0124 a0002c0102t0002g0232 a0002c0120t0001g0007 a0002c0121t0006g0075 a0002c0123t0001g0192 a0002c0124t0002g0253 a0002c0129t0001g0393 a0002c0147t0002g0392 a0003c0001t0001g0109 a0003c0001t0001g0114 a0003c0001t0001g0131 a0003c0001t0001g0200 a0003c0001t0001g0225 a0003c0001t0001g0235 a0003c0001t0001g0238 a0003c0001t0001g0261 a0003c0001t0001g0266 a0003c0001t0001g0267 a0003c0001t0001g0307 a0003c0001t0001g0333 a0003c0001t0001g0334 a0003c0001t0001g0338 a0003c0001t0001g0351 a0003c0001t0001g0379 a0003c0001t0002g0098 a0003c0001t0002g0265 a0003c0001t0002g0306 a0003c0001t0002g0377 a0003c0001t0003g0273 a0003c0001t0003g0340 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0319 a0003c0004t0001g0323 a0003c0004t0001g0325 a0003c0004t0001g0326 a0003c0004t0001g0327 a0003c0004t0002g0040 a0003c0004t0002g0110 a0003c0004t0002g0147 a0003c0004t0002g0217 a0003c0004t0002g0237 a0003c0004t0002g0269 a0003c0004t0002g0292 a0003c0069t0001g0241 a0003c0156t0002g0277 a0003c0157t0001g0219 a0004c0007t0001g0043 a0004c0007t0001g0099 a0004c0007t0001g0236 a0004c0007t0001g0262 a0004c0007t0001g0263 a0004c0007t0001g0284 a0004c0007t0001g0289 a0004c0007t0001g0291 a0004c0007t0001g0336 a0004c0007t0002g0264 a0004c0051t0001g0360 a0004c0051t0002g0285 a0004c0158t0002g0380 a0004c0159t0001g0041 a0005c0005t0001g0143 a0005c0005t0001g0210 a0005c0005t0001g0240 a0005c0005t0001g0276 a0005c0005t0001g0288 a0005c0005t0001g0293 a0005c0005t0001g0297 a0005c0005t0002g0301 a0005c0005t0004g0281 a0005c0005t0004g0287 a0005c0109t0002g0115 a0005c0146t0004g0105 a0006c0013t0001g0152 a0006c0013t0001g0158 a0006c0013t0005g0146 a0006c0013t0005g0167 a0006c0201t0005g0168 a0007c0010t0001g0102 a0007c0010t0001g0313 a0007c0010t0001g0314 a0007c0010t0001g0367 a0008c0008t0001g0104 a0008c0008t0001g0107 a0008c0008t0001g0111 a0008c0008t0001g0177 a0008c0008t0001g0178 a0008c0008t0001g0179 a0008c0008t0001g0245 a0008c0008t0001g0270 a0009c0012t0001g0049 a0009c0012t0001g0312 a0009c0012t0001g0374 a0009c0012t0002g0113 a0009c0012t0002g0305 a0009c0162t0002g0271 a0010c0056t0001g0089 a0010c0056t0002g0159 a0010c0199t0001g0094 a0011c0182t0002g0069 a0011c0184t0001g0055 a0012c0011t0001g0003 a0012c0011t0001g0042 a0012c0011t0001g0224 a0012c0011t0001g0248 a0013c0030t0002g0211 a0013c0030t0002g0300 a0013c0031t0001g0376 a0013c0031t0002g0279 a0013c0080t0001g0387 a0014c0113t0001g0344 a0014c0114t0001g0381 a0015c0057t0001g0156 a0015c0057t0001g0165 a0015c0209t0004g0161 a0016c0075t0002g0243 a0016c0077t0001g0304 a0016c0078t0002g0247 a0017c0026t0001g0218 a0017c0026t0001g0375 a0017c0173t0002g0024 a0019c0058t0001g0157 a0019c0058t0002g0185 a0021c0028t0001g0164 a0021c0028t0001g0172 a0021c0028t0001g0186 a0022c0043t0001g0239 a0022c0043t0001g0382 a0023c0021t0001g0223 a0023c0021t0001g0354 a0023c0021t0001g0355 a0024c0055t0001g0144 a0024c0055t0001g0170 a0029c0180t0001g0068 a0029c0183t0001g0119 a0030c0054t0001g0005 a0030c0054t0001g0066 a0031c0050t0001g0103 a0031c0050t0001g0347 a0034c0127t0001g0398 a0035c0125t0001g0356 a0035c0170t0001g0275 a0037c0133t0001g0123 a0037c0134t0001g0048 a0038c0131t0001g0045 a0038c0132t0001g0074 a0040c0059t0001g0095 a0040c0060t0001g0345 a0041c0210t0001g0153 a0042c0192t0002g0148 a0043c0212t0001g0008 a0046c0200t0001g0151 a0047c0202t0001g0166 a0050c0213t0005g0145 a0051c0190t0001g0207 a0052c0186t0001g0057 a0055c0169t0001g0019 a0056c0168t0002g0318 a0057c0167t0001g0399 a0058c0150t0001g0036 a0059c0148t0002g0035 a0060c0149t0001g0195 a0061c0166t0001g0222 a0062c0154t0001g0106 a0063c0155t0001g0268 a0064c0163t0001g0390 a0065c0161t0001g0134 a0066c0079t0001g0017 a0067c0076t0001g0011 a0068c0082t0001g0260 a0069c0083t0004g0132 a0073c0112t0001g0244 a0074c0126t0001g0018 a0080c0141t0001g0062 a0081c0119t0001g0343 a0082c0111t0002g0353 a0086c0085t0002g0034 a0088c0172t0001g0033 a0092c0062t0002g0175	237	403	0.5881	45	c.164 others(62): Show c.1645-771_1645-770insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCAAGGTTTTT		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067354	T T	TTCTTTCT others(38): Show TTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0335 a0002c0018t0001g0335	1	364	0.0028	45	c.335 others(62): Show c.3356-267_3356-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGA		MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36						chr1	TogoVar
MYRFL_chr12_69820227_69964097	69877026	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02717.hp1 HG01257.hp2 HG02717.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0009 a0001c0003 a0006c0009	a0001c0003t0001 a0006c0009t0003 a0001c0003t0001 a0006c0009t0003	a0001c0003t0001g0259 a0006c0009t0003g0222 a0001c0003t0001g0259 a0006c0009t0003g0222	2	322	0.0062	45	c.138 others(62): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC		MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24						chr12	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	410	0.0024	45	c.68+ others(60): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19						chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	410	0.0024	45	c.68+ others(60): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATA		MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19						chr1	TogoVar
MYT1L_chr2_1784113_2336275	1830464	G G	GGGGAGAT others(38): Show GGGGAGATGGAGGAAAGGGTGTTCTCGGCACCCCGAAGGGCTCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02280.hp2 HG02559.hp1 others(12): Show HG00280.hp2 HG02280.hp2 HG02559.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0015 a0001c0024	a0001c0002t0001 a0001c0003t0025 a0001c0005t0001 others(10): Show a0001c0002t0001 a0001c0003t0025 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0011 a0001c0005t0012 a0001c0005t0024 a0001c0005t0026 a0001c0008t0005 a0001c0009t0022 a0001c0015t0001 a0001c0024t0020	a0001c0002t0001g0046 a0001c0003t0025g0055 a0001c0005t0001g0086 others(12): Show a0001c0002t0001g0046 a0001c0003t0025g0055 a0001c0005t0001g0086 a0001c0005t0002g0076 a0001c0005t0002g0099 a0001c0005t0005g0088 a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0005t0012g0092 a0001c0005t0024g0063 a0001c0005t0026g0103 a0001c0008t0005g0101 a0001c0009t0022g0062 a0001c0015t0001g0015 a0001c0024t0020g0064	15	104	0.1442	45	c.308 others(64): Show c.3080+8640_3080+8684dupTGTGAGCCCTTCGGGGTGCCGAGAAC ACCCTTTCCTCCATCTCCC		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24						chr2	TogoVar
NAA30_chr14_57385586_57420906	57417957	T T	TGCAGATG others(38): Show TGCAGATGAAAAAACAATACTCAAGGTGTTTAAATGACACCTTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	256	0.0039	45	c.84 others(56): Show c.8441_*8442insGCAGATGAAAAAACAATACTCAAGGTGTTTAAAT GACACCTTTAA		NAA30	ENSG00000139977.14	transcript	ENST00000556492.6	protein_coding					2052		chr14	TogoVar
NAA30_chr14_57385586_57420906	57417957	T T	TGCAGATT others(38): Show TGCAGATTAAAAAACAATACTCAAGGTGTTTAAATGACACCTTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00642.hp1 others(90): Show HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18969.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18993.hp2 NA19010.hp1 NA19030.hp1 NA19068.hp2 NA19088.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0002t0010 a0003c0007t0002	a0001c0001t0001g0027 a0001c0001t0001g0083 a0001c0001t0002g0002 others(49): Show a0001c0001t0001g0027 a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0102 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0107 a0001c0001t0005g0004 a0001c0001t0005g0074 a0001c0001t0006g0016 a0001c0001t0006g0038 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0007g0002 a0001c0001t0007g0005 a0001c0001t0009g0002 a0001c0001t0009g0058 a0001c0001t0011g0032 a0001c0001t0011g0100 a0001c0001t0013g0001 a0001c0001t0016g0010 a0001c0001t0017g0024 a0001c0001t0018g0025 a0001c0001t0019g0032 a0001c0001t0028g0044 a0001c0001t0029g0099 a0001c0001t0030g0108 a0001c0001t0033g0069 a0001c0001t0034g0075 a0001c0001t0036g0067 a0001c0002t0010g0033 a0003c0007t0002g0053	93	256	0.3633	45	c.84 others(56): Show c.8441_*8442insGCAGATTAAAAAACAATACTCAAGGTGTTTAAAT GACACCTTTAA		NAA30	ENSG00000139977.14	transcript	ENST00000556492.6	protein_coding					2052		chr14	TogoVar
NAALADL2_chr3_174854334_175815548	174951189	T T	TAATACCT others(38): Show TAATACCTTCATGAGTCATGTTAAGTTGAGATGTAAATGTAGCAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0027 a0001c0001t0035g0027	1	64	0.0156	45	c.43+ others(62): Show c.43+91766_43+91767insAGATGTAAATGTAGCAAAAATACCTTCA TGAGTCATGTTAAGTTG		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(38): Show CTATACATATATGTATAGTATACATATATGTATACTATACGTATAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0121	1	374	0.0027	45	c.137 others(62): Show c.1376-217_1376-216insGTATACATATATGTATACTATACGTATA GTATACATATATGTATA		NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
NACA_chr12_56707427_56730299	56716639	G G	GGGGTAGG others(38): Show GGGGTAGGGGGTGGGGAGTCGTATGGGGGGTGGAAGTAGTAGTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02922.hp2 HG02922.hp2	a0035 a0035	a0035c0035 a0035c0035	a0035c0035t0001 a0035c0035t0001	a0035c0035t0001g0083 a0035c0035t0001g0083	1	366	0.0027	45	c.489 others(54): Show c.4890_4891insTGCACTACTACTTCCACCCCCCATACGACTCCCCAC CCCCTACCC	p.Thr others(60): Show p.Thr1630_Pro1631insCysThrThrThrSerThrProHisThrThr ProHisProLeuPro	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	4929/6387	4890/6237	1630/2078			chr12	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02135.hp1 HG02155.hp1 others(1): Show HG00738.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0012 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0012 a0001c0002t0049	a0001c0001t0003g0104 a0001c0001t0005g0046 a0001c0002t0012g0085 others(1): Show a0001c0001t0003g0104 a0001c0001t0005g0046 a0001c0002t0012g0085 a0001c0002t0049g0074	4	128	0.0313	45	c.916 others(64): Show c.916-43308_916-43307insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NAV1_chr1_201534127_201831969	201734493	G G	GAGAAGAA others(38): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0101 a0001c0001t0029g0101	1	210	0.0048	45	c.208 others(66): Show c.2087+15743_2087+15744insAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAG		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBDY_chrX_56724243_56824179	56771499	T T	TCCTCCTC others(38): Show TCCTCCTCCTCCGCCTCCTCCTCCTCCGCCTCCTCCTCCGCCGCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	160	0.0063	45	c.16 others(66): Show c.166+39311_*166+39312insGCCTCCTCCTCCTCCGCCTCCTCC TCCGCCGCCGCCTCCTCCTCC		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NBDY_chrX_56724243_56824179	56771499	T T	TCCTCCTC others(38): Show TCCTCCTCCTCCGCCTCCTCCTCCTCCGCCTCCTCCTCCTCCGCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01123.hp2 others(16): Show HG00642.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01884.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp1 NA18906.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017	a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0013 others(16): Show a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0017g0012	19	160	0.1188	45	c.16 others(66): Show c.166+39311_*166+39312insGCCTCCTCCTCCTCCGCCTCCTCC TCCTCCGCCGCCTCCTCCTCC		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NBDY_chrX_56724243_56824179	56776901	T T	TCCTCCTC others(38): Show TCCTCCTCCTCCGCCTCCTCCTCCTCCGCCTCCTCCTCCTCCGCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01123.hp2 others(19): Show HG00642.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03834.hp1 NA18906.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017	a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0013 others(19): Show a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0031 a0001c0001t0017g0012	22	160	0.1375	45	c.16 others(66): Show c.167-40408_*167-40407insGCCTCCTCCTCCTCCGCCTCCTCC TCCTCCGCCGCCTCCTCCTCC		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCMAP_chr1_24551087_24614328	24604649	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0391 a0002c0002t0004g0393 a0002c0002t0004g0391 a0002c0002t0004g0393	2	402	0.0050	45	c.168 others(60): Show c.168-957_168-956insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATAAAAA		NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3						chr1	TogoVar
NCOA1_chr2_24486254_24775702	24491501	C C	CGGCGGCG others(38): Show CGGCGGCGGCGGCGGCAGGCGCCTGGGCCCAGGGGGCCGGGCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(46): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG06807.hp1 NA18906.hp2 NA18963.hp1 NA18968.hp1 NA19030.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0013	a0001c0001t0002 a0001c0003t0002 a0001c0003t0016 others(4): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0016 a0001c0004t0002 a0001c0004t0016 a0001c0008t0002 a0002c0013t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(46): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0087 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0099 a0001c0003t0002g0101 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0016g0111 a0001c0004t0002g0069 a0001c0004t0002g0075 a0001c0004t0002g0076 a0001c0004t0002g0077 a0001c0004t0002g0078 a0001c0004t0002g0080 a0001c0004t0002g0083 a0001c0004t0002g0106 a0001c0004t0016g0079 a0001c0008t0002g0074 a0002c0013t0002g0020	49	314	0.1561	45	c.-49 others(54): Show c.-493_-492insGCGGCGGCGGCAGGCGCCTGGGCCCAGGGGGCCGGG CGCCGGGCG		NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/23				167172	INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA2_chr8_70104782_70408808	70408340	A A	ATTTCTTT others(38): Show ATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0020 a0002c0002t0003g0020	1	322	0.0031	45	c.-47 others(56): Show c.-4718_-4717insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAA		NCOA2	ENSG00000140396.13	transcript	ENST00000452400.7	protein_coding					4533		chr8	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(38): Show TATATATATATATATATATATATACACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0271	1	316	0.0032	45	c.-99 others(62): Show c.-99+9537_-99+9538insATATATATATATATATATATATACACAC ACACACATACACATATA		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(38): Show TATATATATATATATATATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	316	0.0032	45	c.-99 others(62): Show c.-99+9537_-99+9538insATATATATATATATATATATATATACAC ACACACATACACATATA		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA3_chr20_47496887_47661872	47541359	C C	CCCTCCCC others(38): Show CCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG03041.hp1 others(1): Show HG02109.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0013 a0001c0003 a0009c0013	a0001c0003t0016 a0009c0013t0016 a0001c0003t0016 a0009c0013t0016	a0001c0003t0016g0020 a0001c0003t0016g0067 a0009c0013t0016g0021 others(1): Show a0001c0003t0016g0020 a0001c0003t0016g0067 a0009c0013t0016g0021 a0009c0013t0016g0022	4	316	0.0127	45	c.-99 others(64): Show c.-99+39354_-99+39355insTCCTCTCCTCCCCTCCCCTCTCCTCC CCTCTCCTCCCCTCCCCTC		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOR2_chr12_124319415_124572612	124373537	T T	TCATGAGG others(38): Show TCATGAGGCCAGTGCGTGTGCAGGGGCCCCGGGCACGGTGGACAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0033 a0033	a0033c0082 a0033c0082	a0033c0082t0057 a0033c0082t0057	a0033c0082t0057g0165 a0033c0082t0057g0165	1	234	0.0043	45	c.221 others(62): Show c.2218+875_2218+876insGTTGTCCACCGTGCCCGGGGCCCCTGCA CACGCACTGGCCTCATG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NCOR2_chr12_124319415_124572612	124373552	C C	CGCAGGGG others(38): Show CGCAGGGGCCCCGGGCACAGTGGACAATCATGAGGCCAGTGCGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp2 NA18985.hp1 HG00544.hp2 HG02080.hp2 NA18985.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0006 a0008c0053 a0001c0003 a0002c0006 a0008c0053	a0001c0003t0012 a0002c0006t0010 a0008c0053t0014 a0001c0003t0012 a0002c0006t0010 a0008c0053t0014	a0001c0003t0012g0045 a0002c0006t0010g0218 a0008c0053t0014g0211 a0001c0003t0012g0045 a0002c0006t0010g0218 a0008c0053t0014g0211	3	234	0.0128	45	c.221 others(62): Show c.2218+860_2218+861insACACGCACTGGCCTCATGATTGTCCACT GTGCCCGGGGCCCCTGC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NCOR2_chr12_124319415_124572612	124373621	T T	TCATGAGG others(38): Show TCATGAGGCCAGTGCGTGTGCAGGGGCCCCGGGCACGGTGGACAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG01256.hp1 others(7): Show HG00280.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02273.hp1 HG02300.hp1	a0010 a0013 a0017 others(2): Show a0010 a0013 a0017 a0018 a0043	a0010c0007 a0013c0042 a0013c0070 others(4): Show a0010c0007 a0013c0042 a0013c0070 a0013c0071 a0017c0132 a0018c0083 a0043c0041	a0010c0007t0006 a0010c0007t0034 a0013c0042t0017 others(5): Show a0010c0007t0006 a0010c0007t0034 a0013c0042t0017 a0013c0070t0049 a0013c0071t0023 a0017c0132t0035 a0018c0083t0004 a0043c0041t0006	a0010c0007t0006g0027 a0010c0007t0006g0028 a0010c0007t0006g0032 others(7): Show a0010c0007t0006g0027 a0010c0007t0006g0028 a0010c0007t0006g0032 a0010c0007t0034g0109 a0013c0042t0017g0095 a0013c0070t0049g0094 a0013c0071t0023g0195 a0017c0132t0035g0129 a0018c0083t0004g0093 a0043c0041t0006g0001	10	234	0.0427	45	c.221 others(62): Show c.2218+791_2218+792insGTTGTCCACCGTGCCCGGGGCCCCTGCA CACGCACTGGCCTCATG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NDNF_chr4_121030613_121077535	121038359	G G	GATAAAAT others(38): Show GATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0243 a0001c0005t0004g0243	1	354	0.0028	45	c.314 others(60): Show c.314-703_314-702insTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTAT		NDNF	ENSG00000173376.14	transcript	ENST00000379692.9	protein_coding	3/3						chr4	TogoVar
NDST4_chr4_114822763_115118620	115022406	T T	TATATATG others(38): Show TATATATGTGTTCCATATATATATGTGTTCCATATATATGTGTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0001 a0001c0002t0002 a0001c0006t0001	a0001c0002t0002g0008 a0001c0006t0001g0009 a0001c0002t0002g0008 a0001c0006t0001g0009	2	190	0.0105	45	c.979 others(64): Show c.979-45133_979-45132insGGAACACATATATATGGAACACATAT ATATATGGAACACATATAT		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13						chr4	TogoVar
NDUFA12_chr12_94966333_95008697	94985002	C C	CATAACAT others(38): Show CATAACATAACATAAAATAACATAAGATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	442	0.0023	45	c.257 others(62): Show c.257+9167_257+9168insTTTATTTTATTTTATTTTATCTTATGTT ATTTTATGTTATGTTAT		NDUFA12	ENSG00000184752.14	transcript	ENST00000327772.7	protein_coding	3/3						chr12	TogoVar
NDUFA2_chr5_140640285_140652630	140648007	G G	GTGTGTGT others(38): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	406	0.0025	45	c.-42 others(54): Show c.-425_-424insACACACACACACACACACACACACACACACACACAC ACACACACA		NDUFA2	ENSG00000131495.9	transcript	ENST00000252102.9	protein_coding					378		chr5	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(38): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	360	0.0028	45	c.379 others(62): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4						chr16	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	420	0.0024	45	c.166 others(60): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2						chr11	TogoVar
NFATC2IP_chr16_28945937_28972092	28951719	A A	AGGTTGGG others(38): Show AGGTTGGGGTCCATGGCAAATGAAGCCAGGGAGCTGCAGTATTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0170 a0001c0001t0024g0170	1	396	0.0025	45	c.387 others(60): Show c.387+336_388-354dupGCAAATGAAGCCAGGGAGCTGCAGTATTGG GGGTTGGGGTCCATG		NFATC2IP	ENSG00000176953.13	transcript	ENST00000320805.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68088482	G G	GTATATAA others(38): Show GTATATAATATATATTTTATATATAATATATATTTTATATATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	188	0.0053	45	c.103 others(62): Show c.103+2721_103+2722insAATATATATTTTATATATTTTATATATA ATATATATTTTATATAT		NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NGEF_chr2_232873701_233018256	232995389	C C	CTGTATAT others(38): Show CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	362	0.0028	45	c.-75 others(64): Show c.-75+17678_-75+17679insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(38): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0054 a0001c0019t0054	a0001c0019t0054g0070 a0001c0019t0054g0070	1	187	0.0054	45	c.281 others(64): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGA		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72049009	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0052 a0001c0001t0001 a0009c0010t0052	a0001c0001t0001g0138 a0009c0010t0052g0185 a0001c0001t0001g0138 a0009c0010t0052g0185	2	187	0.0107	45	c.281 others(64): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAGGAAGAGGAAGA		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52030567	A A	AGAAAGAA others(38): Show AGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03654.hp2 HG01978.hp1 HG03654.hp2	a0004 a0027 a0004 a0027	a0004c0012 a0027c0067 a0004c0012 a0027c0067	a0004c0012t0002 a0027c0067t0002 a0004c0012t0002 a0027c0067t0002	a0004c0012t0002g0305 a0027c0067t0002g0308 a0004c0012t0002g0305 a0027c0067t0002g0308	2	372	0.0054	45	c.225 others(62): Show c.2258-878_2258-877insGTTCTTTCTTTCTTTTCTTTCTTTCTCT TTCTTTCTCTTTCTTTC		NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21						chr14	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0163 a0003c0002t0001g0163	1	404	0.0025	45	c.33+ others(62): Show c.33+33431_33+33432insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	C C	CGGGTGTT others(38): Show CGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.49 others(56): Show c.4989_*4990insTGCATCCAACCTGATCTACCCACATCCAGATGCC TGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4989		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397953	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG01884.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0001 a0002c0002t0000g0014 a0001c0001t0000g0001 a0002c0002t0000g0014	2	382	0.0052	45	c.49 others(56): Show c.4978_*4979insTGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4978		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397968	A A	AGTAGATC others(38): Show AGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG03209.hp1 HG01981.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	45	c.49 others(56): Show c.4963_*4964insCCACATCCAGATGCCCGAAAGCACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4963		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397993	T T	TTTTCGGG others(38): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02738.hp2 HG00140.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0003 a0001c0001t0000g0003	2	382	0.0052	45	c.49 others(56): Show c.4938_*4939insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4938		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397993	T T	TTTTCGGG others(38): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0038 a0001c0001t0000g0038	1	382	0.0026	45	c.49 others(56): Show c.4938_*4939insGCACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4938		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(38): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02486.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	45	c.48 others(56): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398058	G G	AGTAGATC others(38): Show AGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.48 others(56): Show c.4874_*4875insCACATCCAGATGCCCGAAAGCACCCTGCATCCAA CCTGATCTACT		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4874		chr4	TogoVar

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Search Results (Total: 2640 hits)