Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO1H_chr12_109342900_109453379	109353393	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0234 a0001c0004t0002g0234	1	312	0.0032	21	c.12+ others(36): Show c.12+5427_12+5447dupAAAAAAAAAAAAAAAAAAAAA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO3B_chr2_170173147_170660167	170648633	T T	TATATATA others(14): Show TATATATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02572.hp2 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18939.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18972.hp2 NA18998.hp1 NA18998.hp2 NA19056.hp1 NA19065.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0020 a0025 a0033	a0001c0001 a0001c0002 a0001c0004 others(27): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0028 a0001c0037 a0002c0006 a0002c0010 a0002c0018 a0002c0023 a0002c0032 a0002c0042 a0003c0003 a0003c0015 a0003c0062 a0004c0019 a0004c0022 a0004c0026 a0004c0063 a0005c0012 a0005c0025 a0006c0021 a0006c0036 a0007c0009 a0010c0045 a0011c0033 a0020c0038 a0025c0043 a0033c0040	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(33): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0009 a0001c0004t0010 a0001c0005t0001 a0001c0005t0005 a0001c0011t0001 a0001c0028t0001 a0001c0037t0001 a0002c0006t0001 a0002c0010t0001 a0002c0018t0001 a0002c0023t0001 a0002c0032t0001 a0002c0042t0001 a0003c0003t0001 a0003c0003t0012 a0003c0015t0001 a0003c0062t0001 a0004c0019t0001 a0004c0022t0002 a0004c0022t0005 a0004c0026t0001 a0004c0063t0001 a0005c0012t0001 a0005c0012t0012 a0005c0025t0001 a0006c0021t0001 a0006c0036t0021 a0007c0009t0005 a0010c0045t0001 a0011c0033t0009 a0020c0038t0001 a0025c0043t0009 a0033c0040t0001	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 others(49): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0002t0001g0070 a0001c0002t0001g0155 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0004t0001g0104 a0001c0004t0009g0002 a0001c0004t0010g0106 a0001c0005t0001g0056 a0001c0005t0001g0089 a0001c0005t0001g0095 a0001c0005t0005g0090 a0001c0011t0001g0140 a0001c0028t0001g0083 a0001c0028t0001g0110 a0001c0037t0001g0144 a0002c0006t0001g0017 a0002c0006t0001g0105 a0002c0010t0001g0101 a0002c0010t0001g0108 a0002c0018t0001g0150 a0002c0023t0001g0055 a0002c0032t0001g0023 a0002c0042t0001g0118 a0003c0003t0001g0076 a0003c0003t0012g0047 a0003c0015t0001g0022 a0003c0015t0001g0173 a0003c0015t0001g0174 a0003c0062t0001g0073 a0004c0019t0001g0171 a0004c0022t0002g0009 a0004c0022t0005g0020 a0004c0026t0001g0109 a0004c0063t0001g0053 a0005c0012t0001g0121 a0005c0012t0012g0161 a0005c0025t0001g0091 a0005c0025t0001g0102 a0006c0021t0001g0148 a0006c0036t0021g0087 a0007c0009t0005g0045 a0010c0045t0001g0015 a0011c0033t0009g0151 a0020c0038t0001g0139 a0025c0043t0009g0012 a0033c0040t0001g0154	52	174	0.2989	21	c.373 others(40): Show c.3734-2927_3734-2907dupATATTATATTCTATATAATAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649262	A A	AATATATT others(14): Show AATATATTATATATAAAATAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	174	0.0058	21	c.373 others(40): Show c.3734-2320_3734-2300dupTATTATATATAAAATAATATA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01169.hp1 HG00597.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0046 a0001c0003t0035 a0001c0001t0046 a0001c0003t0035	a0001c0001t0046g0235 a0001c0003t0035g0275 a0001c0001t0046g0235 a0001c0003t0035g0275	2	302	0.0066	21	c.220 others(40): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03139.hp2 HG03516.hp2 others(1): Show HG01433.hp2 HG03139.hp2 HG03516.hp2 NA19002.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0001c0004 a0002c0002 others(1): Show a0001c0003 a0001c0004 a0002c0002 a0008c0010	a0001c0003t0007 a0001c0004t0045 a0002c0002t0006 others(1): Show a0001c0003t0007 a0001c0004t0045 a0002c0002t0006 a0008c0010t0004	a0001c0003t0007g0320 a0001c0004t0045g0151 a0002c0002t0006g0153 others(1): Show a0001c0003t0007g0320 a0001c0004t0045g0151 a0002c0002t0006g0153 a0008c0010t0004g0152	4	360	0.0111	21	c.27+ others(36): Show c.27+3858_27+3878dupAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO6_chr6_75744239_75924537	75787689	T T	TATATATG others(14): Show TATATATGGGGGAATGGAACTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01261.hp1 others(4): Show HG00408.hp1 HG00558.hp1 HG01261.hp1 NA18946.hp1 NA18977.hp1 NA19012.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0062 others(1): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0091 a0001c0001t0034g0073 a0001c0001t0062g0057 a0001c0001t0063g0095	7	358	0.0196	21	c.-47 others(40): Show c.-47-29812_-47-29811insATATATGGGGGAATGGAACTA	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34			chr6	TogoVar
MYO6_chr6_75744239_75924537	75924531	A A	AATTAATA others(14): Show AATTAATATAATTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18981.hp2 NA18959.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0048 a0001c0001t0021g0051 a0001c0001t0021g0048 a0001c0001t0021g0051	2	358	0.0056	21	c.95 others(32): Show c.9519_*9520insATTAATATAATTATATATTAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding		4995		chr6	TogoVar
MYO7A_chr11_77123246_77220241	77182389	C C	CCGCTCTG others(14): Show CCGCTCTGGCCTCTGACATGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG03209.hp1 others(1): Show HG02723.hp2 HG02895.hp1 HG03209.hp1 HG06807.hp1	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0040	a0001c0069 a0005c0054 a0011c0028 others(1): Show a0001c0069 a0005c0054 a0011c0028 a0040c0049	a0001c0069t0001 a0005c0054t0001 a0011c0028t0001 others(1): Show a0001c0069t0001 a0005c0054t0001 a0011c0028t0001 a0040c0049t0001	a0001c0069t0001g0340 a0005c0054t0001g0140 a0011c0028t0001g0319 others(1): Show a0001c0069t0001g0340 a0005c0054t0001g0140 a0011c0028t0001g0319 a0040c0049t0001g0093	4	356	0.0112	21	c.310 others(36): Show c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	24/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTTG others(14): Show GGTAGTTGTTTGTGATGGTGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(99): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0019 a0026 a0029 a0032 a0033 a0038	a0001c0003 a0001c0005 a0003c0001 others(25): Show a0001c0003 a0001c0005 a0003c0001 a0003c0025 a0004c0004 a0004c0007 a0004c0012 a0004c0102 a0004c0128 a0005c0017 a0005c0055 a0005c0057 a0005c0058 a0006c0006 a0006c0014 a0007c0010 a0007c0011 a0007c0039 a0007c0121 a0008c0036 a0008c0112 a0008c0129 a0019c0066 a0026c0107 a0029c0076 a0032c0089 a0033c0091 a0038c0073	a0001c0003t0001 a0001c0005t0001 a0003c0001t0001 others(25): Show a0001c0003t0001 a0001c0005t0001 a0003c0001t0001 a0003c0025t0001 a0004c0004t0001 a0004c0007t0001 a0004c0012t0001 a0004c0102t0001 a0004c0128t0001 a0005c0017t0001 a0005c0055t0001 a0005c0057t0001 a0005c0058t0001 a0006c0006t0001 a0006c0014t0001 a0007c0010t0001 a0007c0011t0001 a0007c0039t0001 a0007c0121t0001 a0008c0036t0001 a0008c0112t0001 a0008c0129t0001 a0019c0066t0004 a0026c0107t0001 a0029c0076t0001 a0032c0089t0001 a0033c0091t0001 a0038c0073t0001	a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0045 others(95): Show a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0045 a0001c0003t0001g0053 a0001c0003t0001g0059 a0001c0003t0001g0080 a0001c0003t0001g0089 a0001c0003t0001g0101 a0001c0003t0001g0118 a0001c0003t0001g0128 a0001c0003t0001g0200 a0001c0003t0001g0240 a0001c0003t0001g0265 a0001c0005t0001g0033 a0001c0005t0001g0039 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0043 a0001c0005t0001g0054 a0001c0005t0001g0083 a0001c0005t0001g0088 a0001c0005t0001g0125 a0001c0005t0001g0252 a0001c0005t0001g0255 a0001c0005t0001g0336 a0003c0001t0001g0046 a0003c0001t0001g0056 a0003c0025t0001g0327 a0003c0025t0001g0329 a0004c0004t0001g0009 a0004c0004t0001g0169 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0215 a0004c0004t0001g0231 a0004c0004t0001g0238 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0290 a0004c0004t0001g0293 a0004c0004t0001g0295 a0004c0004t0001g0296 a0004c0004t0001g0298 a0004c0004t0001g0300 a0004c0007t0001g0025 a0004c0007t0001g0055 a0004c0007t0001g0151 a0004c0007t0001g0156 a0004c0007t0001g0160 a0004c0007t0001g0161 a0004c0007t0001g0177 a0004c0012t0001g0001 a0004c0012t0001g0193 a0004c0012t0001g0229 a0004c0012t0001g0233 a0004c0012t0001g0306 a0004c0102t0001g0208 a0004c0128t0001g0192 a0005c0017t0001g0042 a0005c0017t0001g0312 a0005c0055t0001g0339 a0005c0057t0001g0132 a0005c0058t0001g0256 a0006c0006t0001g0047 a0006c0006t0001g0057 a0006c0006t0001g0058 a0006c0006t0001g0061 a0006c0014t0001g0013 a0006c0014t0001g0280 a0006c0014t0001g0281 a0006c0014t0001g0282 a0007c0010t0001g0103 a0007c0010t0001g0106 a0007c0010t0001g0237 a0007c0010t0001g0258 a0007c0010t0001g0288 a0007c0010t0001g0292 a0007c0011t0001g0028 a0007c0011t0001g0096 a0007c0011t0001g0146 a0007c0011t0001g0158 a0007c0011t0001g0186 a0007c0011t0001g0236 a0007c0039t0001g0026 a0007c0039t0001g0027 a0007c0121t0001g0029 a0008c0036t0001g0102 a0008c0036t0001g0291 a0008c0112t0001g0232 a0008c0129t0001g0235 a0019c0066t0004g0318 a0026c0107t0001g0299 a0029c0076t0001g0079 a0032c0089t0001g0060 a0033c0091t0001g0216 a0038c0073t0001g0249	102	356	0.2865	21	c.415 others(38): Show c.4152+638_4152+639insTAGTTGTTTGTGATGGTGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7B_chr2_127530683_127642726	127571442	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0145 a0011c0020t0001g0145	1	282	0.0036	21	c.592 others(38): Show c.592+1543_592+1544insGTTTTTTTTTTTTTTTTTTTT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127571442	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02148.hp2 others(3): Show HG02027.hp1 HG02027.hp2 HG02148.hp2 NA18962.hp1 NA18972.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0042 a0001 a0002 a0042	a0001c0004 a0002c0001 a0002c0011 others(1): Show a0001c0004 a0002c0001 a0002c0011 a0042c0033	a0001c0004t0001 a0002c0001t0001 a0002c0011t0002 others(1): Show a0001c0004t0001 a0002c0001t0001 a0002c0011t0002 a0042c0033t0001	a0001c0004t0001g0055 a0001c0004t0001g0235 a0002c0001t0001g0198 others(3): Show a0001c0004t0001g0055 a0001c0004t0001g0235 a0002c0001t0001g0198 a0002c0001t0001g0218 a0002c0011t0002g0196 a0042c0033t0001g0066	6	282	0.0213	21	c.592 others(38): Show c.592+1549_592+1550insTTTTTTTTTTTTTTTTTTTTT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127572468	C C	CTTTTCTC others(14): Show CTTTTCTCCTTCCTTCCTTTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02602.hp2 HG02970.hp2 others(2): Show HG02132.hp1 HG02602.hp2 HG02970.hp2 HG03688.hp1 HG04184.hp1	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0003 a0004c0007 a0009c0014 a0003c0003 a0004c0007 a0009c0014	a0003c0003t0001 a0004c0007t0003 a0009c0014t0001 a0003c0003t0001 a0004c0007t0003 a0009c0014t0001	a0003c0003t0001g0121 a0003c0003t0001g0123 a0004c0007t0003g0007 others(2): Show a0003c0003t0001g0121 a0003c0003t0001g0123 a0004c0007t0003g0007 a0004c0007t0003g0249 a0009c0014t0001g0133	5	282	0.0177	21	c.593 others(38): Show c.593-1335_593-1315dupCTTCCTTTCTTTTTCTCCTTC	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO9A_chr15_71817291_72123150	71860969	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp2 HG02735.hp1 others(3): Show HG01257.hp2 HG01346.hp2 HG02735.hp1 HG02738.hp1 NA19088.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0025	a0001c0002t0002g0046 a0001c0002t0004g0091 a0001c0002t0004g0094 others(3): Show a0001c0002t0002g0046 a0001c0002t0004g0091 a0001c0002t0004g0094 a0001c0002t0004g0096 a0001c0002t0016g0072 a0001c0002t0025g0001	6	308	0.0195	21	c.609 others(40): Show c.6092-1194_6092-1174dupTTTTTTTTTTTTTTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	33/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	308	0.0033	21	c.268 others(40): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA20752.hp2 NA18994.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0152 a0001c0002t0016g0072 a0001c0001t0001g0152 a0001c0002t0016g0072	2	308	0.0065	21	c.256 others(40): Show c.2562+5613_2562+5614insATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 HG02886.hp2 NA18522.hp2	a0001 a0025 a0001 a0025	a0001c0002 a0025c0031 a0001c0002 a0025c0031	a0001c0002t0004 a0025c0031t0021 a0001c0002t0004 a0025c0031t0021	a0001c0002t0004g0097 a0025c0031t0021g0017 a0001c0002t0004g0097 a0025c0031t0021g0017	2	308	0.0065	21	c.256 others(40): Show c.2562+5613_2562+5614insAAATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	308	0.0033	21	c.256 others(40): Show c.2562+5613_2562+5614insAAAAATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12697360	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 NA19011.hp1 others(1): Show HG01993.hp1 HG02293.hp1 NA19011.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0073 a0001c0001t0075 others(1): Show a0001c0001t0002 a0001c0001t0073 a0001c0001t0075 a0001c0004t0002	a0001c0001t0002g0242 a0001c0001t0073g0105 a0001c0001t0075g0106 others(1): Show a0001c0001t0002g0242 a0001c0001t0073g0105 a0001c0001t0075g0106 a0001c0004t0002g0233	4	346	0.0116	21	c.56- others(36): Show c.56-7768_56-7767insATATATATATATATATATATA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13			chr17	TogoVar
MYOF_chr10_93301429_93487334	93354702	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03704.hp2 HG03688.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0054 a0001c0001 a0001c0054	a0001c0001t0002 a0001c0054t0001 a0001c0001t0002 a0001c0054t0001	a0001c0001t0002g0201 a0001c0054t0001g0159 a0001c0001t0002g0201 a0001c0054t0001g0159	2	240	0.0083	21	c.340 others(38): Show c.3404-815_3404-814insGAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93370314	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0031 a0001c0018t0001g0031	1	240	0.0042	21	c.245 others(38): Show c.2458-559_2458-539dupAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	24/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93483368	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	240	0.0042	21	c.-11 others(32): Show c.-1175_-1174insAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		1035		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTATATA others(14): Show TTTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0003 a0017c0029t0001g0004 a0017c0029t0001g0003 a0017c0029t0001g0004	2	330	0.0061	21	c.27 others(32): Show c.2727_*2728insTATATATATATATATATATAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3127306	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18993.hp1 HG02280.hp1 NA18993.hp1	a0009 a0054 a0009 a0054	a0009c0058 a0054c0165 a0009c0058 a0054c0165	a0009c0058t0004 a0054c0165t0003 a0009c0058t0004 a0054c0165t0003	a0009c0058t0004g0285 a0054c0165t0003g0220 a0009c0058t0004g0285 a0054c0165t0003g0220	2	330	0.0061	21	c.279 others(38): Show c.2795-410_2795-409insTATATATATATATATATATAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	18/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085648	C C	CACTGTCG others(14): Show CACTGTCGTGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0048 a0048	a0048c0195 a0048c0195	a0048c0195t0001 a0048c0195t0001	a0048c0195t0001g0093 a0048c0195t0001g0093	1	403	0.0025	21	c.164 others(38): Show c.1644+258_1644+259insACTGTCGTGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085725	C C	CCCACTGT others(14): Show CCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0026 a0001c0014t0001g0026	1	403	0.0025	21	c.164 others(38): Show c.1644+337_1644+338insACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085754	C C	CACTGTCG others(14): Show CACTGTCGTGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0048 a0048	a0048c0195 a0048c0195	a0048c0195t0001 a0048c0195t0001	a0048c0195t0001g0093 a0048c0195t0001g0093	1	403	0.0025	21	c.164 others(38): Show c.1644+364_1644+365insACTGTCGTGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085885	C C	CCCACTGT others(14): Show CCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0176 a0002c0070t0001g0176	1	403	0.0025	21	c.164 others(38): Show c.1644+497_1644+498insACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085887	C C	CACTGTCA others(14): Show CACTGTCATGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0072 a0002c0107t0001g0072	1	403	0.0025	21	c.164 others(38): Show c.1644+497_1644+498insACTGTCATGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086074	C C	CACTGTCA others(14): Show CACTGTCATGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0067 a0067	a0067c0076 a0067c0076	a0067c0076t0001 a0067c0076t0001	a0067c0076t0001g0011 a0067c0076t0001g0011	1	403	0.0025	21	c.164 others(38): Show c.1644+684_1644+685insACTGTCATGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086099	C C	CCCACTGT others(14): Show CCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0072 a0002c0107t0001g0072	1	403	0.0025	21	c.164 others(38): Show c.1644+711_1644+712insACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086101	C C	CACTGTCA others(14): Show CACTGTCATGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0016 a0016	a0016c0077 a0016c0077	a0016c0077t0001 a0016c0077t0001	a0016c0077t0001g0304 a0016c0077t0001g0304	1	403	0.0025	21	c.164 others(38): Show c.1644+711_1644+712insACTGTCATGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086305	C C	CCCACTGT others(14): Show CCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0120 a0002c0120	a0002c0120t0001 a0002c0120t0001	a0002c0120t0001g0007 a0002c0120t0001g0007	1	403	0.0025	21	c.164 others(38): Show c.1644+917_1644+918insACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086359	C C	CCCACTGT others(14): Show CCCACTGTCATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0048 a0048	a0048c0195 a0048c0195	a0048c0195t0001 a0048c0195t0001	a0048c0195t0001g0093 a0048c0195t0001g0093	1	403	0.0025	21	c.164 others(38): Show c.1644+969_1644+970insCCACTGTCATGATCTCTGGCA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086361	C C	CACTGTCA others(14): Show CACTGTCATGATCTCTGGCACT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1	a0001 a0060 a0001 a0060	a0001c0009 a0060c0149 a0001c0009 a0060c0149	a0001c0009t0001 a0060c0149t0001 a0001c0009t0001 a0060c0149t0001	a0001c0009t0001g0365 a0001c0009t0001g0366 a0060c0149t0001g0195 a0001c0009t0001g0365 a0001c0009t0001g0366 a0060c0149t0001g0195	3	403	0.0074	21	c.164 others(38): Show c.1644+971_1644+972insACTGTCATGATCTCTGGCACT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120675	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0323 a0003c0004t0001g0323	1	403	0.0025	21	c.345 others(40): Show c.3454-2577_3454-2576insATATATATATATATATATATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYRFL_chr12_69820227_69964097	69945986	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01074.hp1 HG01257.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0003 a0006c0009t0003 a0002c0002t0003 a0006c0009t0003	a0002c0002t0003g0316 a0006c0009t0003g0222 a0002c0002t0003g0316 a0006c0009t0003g0222	2	322	0.0062	21	c.222 others(40): Show c.2225-6119_2225-6099dupAAAAAAAAAAAAAAAAAAAAA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0079 a0002c0005t0079	a0002c0005t0079g0264 a0002c0005t0079g0264	1	410	0.0024	21	c.68+ others(36): Show c.68+1882_68+1883insAAAAAAAAATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0253 a0002c0005t0006g0253	1	410	0.0024	21	c.68+ others(36): Show c.68+1882_68+1883insAAAAAAAAAAATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp2 HG01169.hp2 others(6): Show HG00609.hp1 HG01168.hp2 HG01169.hp2 HG01928.hp1 NA18612.hp1 NA18945.hp1 NA19004.hp1 NA19077.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 others(6): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0255 a0001c0001t0001g0272 a0002c0004t0001g0223	9	352	0.0256	21	c.163 others(38): Show c.163-1206_163-1186dupTTTTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57620039	G G	GCAGCTCA others(14): Show GCAGCTCAAGATTCCACCCACT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0244 a0001c0001t0020g0310 a0001c0001t0007g0244 a0001c0001t0020g0310	2	352	0.0057	21	c.319 others(38): Show c.319-1566_319-1546dupGCTCAAGATTCCACCCACTCA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688435	T T	TCTATATG others(14): Show TCTATATGTGTACAATGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0241 a0001c0003t0003g0126 a0001c0001t0001g0241 a0001c0003t0003g0126	2	352	0.0057	21	c.39 others(32): Show c.3937_*3938insCTATATGTGTACAATGTACAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3072		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689151	C C	CATATATG others(14): Show CATATATGTATAATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02647.hp2 others(5): Show HG02055.hp2 HG02257.hp1 HG02647.hp2 HG02717.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0241 a0001c0001t0004g0007 a0001c0001t0004g0246 others(4): Show a0001c0001t0001g0241 a0001c0001t0004g0007 a0001c0001t0004g0246 a0001c0001t0019g0327 a0001c0001t0020g0310 a0001c0003t0002g0127 a0002c0002t0001g0337	8	352	0.0227	21	c.46 others(32): Show c.4653_*4654insATATATGTATAATATACACAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3788		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689166	T T	TACACATA others(14): Show TACACATATATATGTATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02809.hp2 HG01109.hp2 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0116 a0001c0003t0006g0117 a0001c0003t0006g0120 a0001c0003t0006g0116 a0001c0003t0006g0117 a0001c0003t0006g0120	3	352	0.0085	21	c.46 others(32): Show c.4668_*4669insACACATATATATGTATAATAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3803		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689184	A A	ATATACAC others(14): Show ATATACACATATATATGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0160 a0001c0001t0015g0160	1	352	0.0028	21	c.46 others(32): Show c.4686_*4687insTATACACATATATATGTATAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3821		chr15	TogoVar
MZF1_chr19_58556932_58578335	58557278	A A	ACCCCCAG others(14): Show ACCCCCAGGCGCCTCTCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0119 a0003c0005t0001g0119	1	414	0.0024	21	c.47 others(32): Show c.4773_*4793dupCCCAGGAGAGGCGCCTGGGGG	MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding		4653		chr19	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00673.hp1 others(29): Show HG00280.hp1 HG00639.hp1 HG00673.hp1 HG01167.hp1 HG01515.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02280.hp2 HG02630.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp1 HG06807.hp2 NA18951.hp2 NA18956.hp2 NA18962.hp2 NA18971.hp2 NA18988.hp1 NA18990.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19068.hp2 NA19077.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0025 a0001c0001t0064 a0001c0001t0065 a0002c0002t0010 a0002c0002t0016	a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 others(26): Show a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0029 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0131 a0001c0001t0003g0147 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0004g0001 a0001c0001t0004g0050 a0001c0001t0011g0022 a0001c0001t0011g0102 a0001c0001t0025g0100 a0001c0001t0025g0174 a0001c0001t0064g0180 a0001c0001t0065g0099 a0002c0002t0010g0021 a0002c0002t0010g0077 a0002c0002t0016g0078 a0002c0002t0016g0079	32	394	0.0812	21	c.-23 others(32): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
N4BP2_chr4_40051850_40163252	40134931	T T	TATTTTAT others(14): Show TATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19074.hp1 NA19091.hp2 HG01257.hp1 NA19074.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0070 a0005c0005t0007 a0001c0001t0070 a0005c0005t0007	a0001c0001t0070g0315 a0005c0005t0007g0203 a0005c0005t0007g0205 a0001c0001t0070g0315 a0005c0005t0007g0203 a0005c0005t0007g0205	3	366	0.0082	21	c.464 others(40): Show c.4647-2013_4647-2012insATTTTATTTTATTTTATTTTA	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	13/17			chr4	TogoVar
NAA25_chr12_112021689_112113783	112086102	A A	ACACACAC others(14): Show ACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	342	0.0029	21	c.402 others(38): Show c.402+1580_402+1581insGGGTGTGTGTGTGTGTGTGTG	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA30_chr14_57385586_57420906	57415302	T T	TCAACAAC others(14): Show TCAACAACAACAACGGAGGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0002 a0001c0005t0035g0002	1	256	0.0039	21	c.57 others(32): Show c.5786_*5787insCAACAACAACAACGGAGGAGG	NAA30	ENSG00000139977.14	transcript	ENST00000556492.6	protein_coding	5/5	5787		chr14	TogoVar
NAA60_chr16_3438680_3491953	3478064	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03098.hp2 HG03492.hp1 others(1): Show HG03017.hp1 HG03098.hp2 HG03492.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 others(1): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0001c0002t0033	a0001c0002t0006g0080 a0001c0002t0010g0333 a0001c0002t0017g0025 others(1): Show a0001c0002t0006g0080 a0001c0002t0010g0333 a0001c0002t0017g0025 a0001c0002t0033g0128	4	376	0.0106	21	c.111 others(38): Show c.111-1401_111-1381dupTAATAATAATAATAATAATAA	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr16	TogoVar

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