Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
MON1A_chr3_49903873_49934811	49911221	G G	GATAGATA others(20): Show GATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 NA21309.hp1 HG03130.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0123 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0123	3	262	0.0115	27	c.613 others(42): Show c.613+304_613+305insGTATCTATCATCTATCTATCTATCTAT		MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5						chr3	TogoVar
MON1A_chr3_49903873_49934811	49911225	G G	GATAGATA others(20): Show GATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	2	262	0.0076	27	c.613 others(42): Show c.613+300_613+301insGTATCTATCATCTATCTATCTATCTAT		MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5						chr3	TogoVar
MOSMO_chr16_22003111_22089654	22007404	A A	AGCGGAAA others(20): Show AGCGGAAATGCATCCTTCCCTATCGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	306	0.0033	27	c.-89 others(36): Show c.-898_-897insGCGGAAATGCATCCTTCCCTATCGCAG		MOSMO	ENSG00000185716.12	transcript	ENST00000542527.7	protein_coding					706		chr16	TogoVar
MOV10L1_chr22_50085006_50166687	50098218	G G	GTATTAAG others(20): Show GTATTAAGATTAACATCTTAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(145): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(9): Show a0001 a0004 a0005 a0006 a0009 a0010 a0011 a0017 a0018 a0019 a0022 a0024	a0001c0001 a0001c0005 a0001c0028 others(17): Show a0001c0001 a0001c0005 a0001c0028 a0001c0037 a0004c0008 a0004c0009 a0004c0014 a0004c0021 a0005c0004 a0005c0020 a0005c0036 a0006c0006 a0009c0023 a0010c0022 a0011c0017 a0017c0032 a0018c0033 a0019c0034 a0022c0026 a0024c0040	a0001c0001t0001 a0001c0005t0001 a0001c0028t0001 others(17): Show a0001c0001t0001 a0001c0005t0001 a0001c0028t0001 a0001c0037t0001 a0004c0008t0001 a0004c0009t0001 a0004c0014t0001 a0004c0021t0001 a0005c0004t0001 a0005c0020t0001 a0005c0036t0001 a0006c0006t0001 a0009c0023t0001 a0010c0022t0001 a0011c0017t0001 a0017c0032t0001 a0018c0033t0001 a0019c0034t0001 a0022c0026t0001 a0024c0040t0001	a0001c0001t0001g0005 a0001c0001t0001g0236 a0001c0001t0001g0237 others(143): Show a0001c0001t0001g0005 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0005t0001g0296 a0001c0028t0001g0283 a0001c0037t0001g0251 a0004c0008t0001g0003 a0004c0008t0001g0083 a0004c0008t0001g0085 a0004c0008t0001g0095 a0004c0008t0001g0101 a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0112 a0004c0008t0001g0119 a0004c0008t0001g0122 a0004c0008t0001g0123 a0004c0008t0001g0127 a0004c0008t0001g0128 a0004c0008t0001g0130 a0004c0009t0001g0126 a0004c0009t0001g0129 a0004c0009t0001g0316 a0004c0009t0001g0317 a0004c0009t0001g0318 a0004c0009t0001g0319 a0004c0009t0001g0320 a0004c0009t0001g0321 a0004c0009t0001g0322 a0004c0014t0001g0097 a0004c0014t0001g0099 a0004c0014t0001g0113 a0004c0014t0001g0207 a0004c0021t0001g0098 a0004c0021t0001g0100 a0005c0004t0001g0040 a0005c0004t0001g0079 a0005c0004t0001g0081 a0005c0004t0001g0084 a0005c0004t0001g0086 a0005c0004t0001g0087 a0005c0004t0001g0089 a0005c0004t0001g0090 a0005c0004t0001g0091 a0005c0004t0001g0092 a0005c0004t0001g0094 a0005c0004t0001g0096 a0005c0004t0001g0103 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0107 a0005c0004t0001g0114 a0005c0004t0001g0115 a0005c0004t0001g0117 a0005c0004t0001g0120 a0005c0004t0001g0121 a0005c0004t0001g0124 a0005c0004t0001g0125 a0005c0004t0001g0131 a0005c0004t0001g0132 a0005c0004t0001g0133 a0005c0004t0001g0134 a0005c0004t0001g0135 a0005c0020t0001g0082 a0005c0020t0001g0111 a0005c0036t0001g0102 a0006c0006t0001g0039 a0006c0006t0001g0235 a0006c0006t0001g0246 a0006c0006t0001g0260 a0006c0006t0001g0261 a0006c0006t0001g0262 a0006c0006t0001g0263 a0006c0006t0001g0264 a0006c0006t0001g0265 a0006c0006t0001g0273 a0006c0006t0001g0275 a0006c0006t0001g0288 a0006c0006t0001g0294 a0006c0006t0001g0297 a0006c0006t0001g0315 a0009c0023t0001g0232 a0009c0023t0001g0233 a0010c0022t0001g0136 a0010c0022t0001g0137 a0011c0017t0001g0269 a0011c0017t0001g0276 a0017c0032t0001g0093 a0018c0033t0001g0109 a0019c0034t0001g0108 a0022c0026t0001g0116 a0024c0040t0001g0088	148	400	0.3700	27	c.283 others(44): Show c.283-1200_283-1174dupAATTATTAAGATTAACATCTTAATAAT		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	302	0.0033	27	c.429 others(44): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAA		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46						chr9	TogoVar
MPDZ_chr9_13100707_13284692	13236268	T T	TACATATA others(20): Show TACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	302	0.0033	27	c.183 others(46): Show c.183+11366_183+11367insTATATATATATATATATATATATATG T		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	3/46						chr9	TogoVar
MPDZ_chr9_13100707_13284692	13236268	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	302	0.0033	27	c.183 others(46): Show c.183+11366_183+11367insTATATATATATATATATATATATATA T		MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	3/46						chr9	TogoVar
MPHOSPH6_chr16_82143162_82175224	82165114	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0105 a0003c0005t0001g0105	1	434	0.0023	27	c.52- others(40): Show c.52-921_52-920insAAAAAAAAAAAAAAAAAAAAAAAAAAA		MPHOSPH6	ENSG00000135698.10	transcript	ENST00000258169.9	protein_coding	1/4						chr16	TogoVar
MPP3_chr17_43795811_43838146	43822678	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 NA19240.hp1 HG02630.hp2 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098	3	332	0.0090	27	c.684 others(44): Show c.684+1252_684+1253insTTTTTTTTTTTTTTTTTTTTTTTTTTT		MPP3	ENSG00000161647.19	transcript	ENST00000398389.9	protein_coding	10/19						chr17	TogoVar
MPPED1_chr22_43407014_43512848	43447859	T T	TATATAAA others(20): Show TATATAAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	250	0.0040	27	c.406 others(46): Show c.406+12644_406+12645insATATAAATATATATATATATATATAT A		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43447883	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0213 a0001c0004t0022g0213	1	250	0.0040	27	c.406 others(46): Show c.406+12669_406+12670insATATATATATATATATATATATATTT T		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43447884	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	250	0.0040	27	c.406 others(46): Show c.406+12669_406+12670insATATATATATATATATATATATATAT A		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	3/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43494694	A A	AGTGGTGG others(20): Show AGTGGTGGTGGTGGTGGTGGTGGTGGTG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA21309.hp2 NA18947.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0018 a0001c0001t0004 a0001c0008t0018	a0001c0001t0004g0228 a0001c0008t0018g0011 a0001c0001t0004g0228 a0001c0008t0018g0011	2	250	0.0080	27	c.633 others(44): Show c.633-3537_633-3511dupGTGGTGGTGGTGGTGGTGGTGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495711	T T	TAGTGGTG others(20): Show TAGTGGTGGTGGAGATGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	250	0.0040	27	c.633 others(44): Show c.633-2524_633-2523insAGTGGTGGTGGAGATGGTGGTGGTGGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495726	T T	TGGTGGTG others(20): Show TGGTGGTGGTGGAGGTGGTGATGGTGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00673.hp1 others(11): Show HG00544.hp2 HG00639.hp2 HG00673.hp1 HG01361.hp1 HG02738.hp2 HG03195.hp2 HG03239.hp1 HG03834.hp2 NA18968.hp1 NA18981.hp2 NA18995.hp2 NA18999.hp2 NA19009.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0005t0004	a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0044 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0013g0117 a0001c0002t0001g0021 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0133 a0001c0002t0006g0244 a0001c0002t0006g0248 a0001c0002t0013g0075 a0001c0005t0004g0019	14	250	0.0560	27	c.633 others(44): Show c.633-2494_633-2493insGGTGATGGTGGAGGTGGTGGTGGAGGT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496346	G G	GTGGTGGT others(20): Show GTGGTGGTGGAGGTAGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp2 HG03540.hp2 HG02647.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0174 a0001c0001t0003g0167 a0001c0001t0006g0084 a0001c0001t0002g0174 a0001c0001t0003g0167 a0001c0001t0006g0084	3	250	0.0120	27	c.633 others(44): Show c.633-1880_633-1879insAGGTAGTGGTGGTGGAGATGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496346	G G	GTGGTGGT others(20): Show GTGGTGGTGGAGGTGGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG02818.hp1 others(1): Show HG01496.hp2 HG02723.hp1 HG02818.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0008 a0001c0009t0002 a0001c0001t0001 a0001c0002t0008 a0001c0009t0002	a0001c0001t0001g0055 a0001c0002t0008g0086 a0001c0009t0002g0205 others(1): Show a0001c0001t0001g0055 a0001c0002t0008g0086 a0001c0009t0002g0205 a0001c0009t0002g0222	4	250	0.0160	27	c.633 others(44): Show c.633-1880_633-1879insAGGTGGTGGTGGTGGAGATGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496691	G G	GAGGTGGT others(20): Show GAGGTGGTGGTGGAGGTGGTGGTGGAGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	250	0.0040	27	c.633 others(44): Show c.633-1544_633-1543insAGGTGGTGGTGGAGGTGGTGGTGGAGC		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497014	A A	AGTGGTGG others(20): Show AGTGGTGGTGGAGATGGTGGTGGAGATG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0221 a0001c0001t0029g0221	1	250	0.0040	27	c.633 others(44): Show c.633-1210_633-1209insGATGGTGGTGGAGATGGTGGTGGTGGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499813	G G	GGGTGATG others(20): Show GGGTGATGGTGGTGATGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18947.hp2 NA18983.hp1 NA18944.hp2 NA18947.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0134 a0001c0001t0004g0228 a0001c0001t0004g0070 a0001c0001t0004g0134 a0001c0001t0004g0228	3	250	0.0120	27	c.748 others(44): Show c.748+1467_748+1468insATGGTGGTGATGGTGGTGGTGGAGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500077	T T	TGGTGGTG others(20): Show TGGTGGTGGTGGTGGTGGTGGTGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG01109.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0007t0002 a0001c0001t0005 a0001c0007t0002	a0001c0001t0005g0175 a0001c0007t0002g0200 a0001c0001t0005g0175 a0001c0007t0002g0200	2	250	0.0080	27	c.748 others(44): Show c.748+1734_748+1735insGTGGTGGTGGTGGTGAGGGAGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500220	A A	ATGGTGGT others(20): Show ATGGTGGTGATGGTGGTGGTGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	250	0.0040	27	c.748 others(44): Show c.748+1876_748+1877insTGATGGTGGTGGTGGAGGTGGTGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(20): Show CGGTGGTGATGGTGGTGGTGGTGATGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp2 NA18968.hp1 others(3): Show HG00639.hp2 HG01981.hp2 NA18968.hp1 NA18981.hp2 NA18999.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0001t0001 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0002t0001g0073 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0013g0075	6	250	0.0240	27	c.748 others(44): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPV17L2_chr19_18188218_18201948	18201259	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0008 a0002c0002t0004 a0002c0002t0008	a0002c0002t0004g0004 a0002c0002t0008g0004 a0002c0002t0004g0004 a0002c0002t0008g0004	2	378	0.0053	27	c.52 others(38): Show c.5204_*5205insAAGAAAGAAAGAAAGAAAGAAAGAAAG		MPV17L2	ENSG00000254858.10	transcript	ENST00000599612.3	protein_coding					4312		chr19	TogoVar
MREG_chr2_215937584_216018551	216015123	G G	GTGTGTGC others(20): Show GTGTGTGCGCGCGTGCCATGTGCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	416	0.0024	27	c.-17 others(38): Show c.-1797_-1796insTGCGCGCACATGGCACGCGCGCACACA		MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding					1573		chr2	TogoVar
MRGPRG_chr11_3212944_3223813	3216895	G G	GCTTTCTT others(20): Show GCTTTCTTTCTTTTTCCTTCCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	1	426	0.0024	27	c.10 others(38): Show c.1048_*1049insAAAGAAAGGAAGGAAAAAGAAAGAAAG		MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding					1048		chr11	TogoVar
MRI1_chr19_13759522_13779282	13767861	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02129.hp2 HG02165.hp1 others(3): Show HG00741.hp2 HG02129.hp2 HG02165.hp1 HG02698.hp1 HG02896.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0130 others(2): Show a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0130 a0001c0001t0004g0047 a0001c0001t0005g0047	6	460	0.0130	27	c.548 others(42): Show c.548-675_548-674insTTTTTTTTTTTTTTTTTTTTTTTTTTT		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19074.hp2 HG02083.hp2 NA19074.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0011c0023 a0001c0002 a0011c0023	a0001c0002t0001 a0011c0023t0001 a0001c0002t0001 a0011c0023t0001	a0001c0002t0001g0097 a0011c0023t0001g0139 a0001c0002t0001g0097 a0011c0023t0001g0139	2	140	0.0143	27	c.948 others(44): Show c.948+2818_948+2819insAAAAAAAAAAAAAAAAAAAAAAAAAAA		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203083	G G	GGCGGGGG others(20): Show GGCGGGGGGGGGGGAGCGCCCACTGTCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0033	1	140	0.0071	27	c.114 others(46): Show c.1141+2543_1141+2544insCGGGGGGGGGGGAGCGCCCACTGTCT G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203083	G G	GGCGGGGG others(20): Show GGCGGGGGGGGGGGAGCGCCCGCTGTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00642.hp2 others(8): Show HG00597.hp1 HG00642.hp1 HG00642.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02738.hp1 HG03834.hp1 HG06807.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0124 a0001c0002t0001g0042 a0001c0002t0001g0045 others(8): Show a0001c0001t0001g0124 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0077 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0002t0001g0135 a0001c0002t0001g0140 a0001c0002t0003g0072	11	140	0.0786	27	c.114 others(46): Show c.1141+2543_1141+2544insCGGGGGGGGGGGAGCGCCCGCTGTCT G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203085	G G	GCGGGGGG others(20): Show GCGGGGGGGGGGAGCGCCCGCTGTCTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0130 a0006c0010t0001g0130	1	140	0.0071	27	c.114 others(46): Show c.1141+2544_1141+2545insCGGGGGGGGGGAGCGCCCGCTGTCTG T		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43						chr8	TogoVar
MROH1_chr8_144143016_144266926	144203157	G G	GGGGGGGG others(20): Show GGGGGGGGAAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	140	0.0071	27	c.114 others(46): Show c.1141+2623_1141+2624insAAGCGCCCGCTGTCTGTGGAGGGGGG G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203157	G G	GGGGGGGG others(20): Show GGGGGGGGGAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01993.hp2 others(5): Show HG00609.hp2 HG00673.hp1 HG01993.hp2 HG02523.hp1 HG02683.hp1 HG03130.hp2 HG04204.hp1 NA19065.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0012c0020t0001 a0001c0001t0001 a0012c0020t0001	a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0012c0020t0001g0121	8	140	0.0571	27	c.114 others(46): Show c.1141+2624_1141+2625insAGCGCCCGCTGTCTGTGGAGGGGGGG G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203158	G G	GGGGGGGG others(20): Show GGGGGGGGGAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02257.hp2 HG02886.hp1 HG01074.hp2 HG02257.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0085 a0001c0001t0001g0106 a0002c0006t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0106 a0002c0006t0001g0066	3	140	0.0214	27	c.114 others(46): Show c.1141+2625_1141+2626insAGCGCCCGCTGTCTGTGGAGGGGGGG G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203225	G G	GGGGGGGG others(20): Show GGGGGGGGAAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0051 a0009c0009t0001g0051	1	140	0.0071	27	c.114 others(46): Show c.1141+2691_1141+2692insAAGCGCCCGCTGTCTGTGGAGGGGGG G		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00741.hp1 others(38): Show HG00544.hp2 HG00609.hp2 HG00741.hp1 HG01433.hp2 HG01516.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG02683.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 NA18951.hp2 NA18959.hp1 NA18969.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA20129.hp2	a0001 a0004 a0005 others(14): Show a0001 a0004 a0005 a0007 a0008 a0010 a0013 a0019 a0020 a0023 a0024 a0028 a0033 a0034 a0039 a0050 a0055	a0001c0002 a0004c0003 a0005c0008 others(17): Show a0001c0002 a0004c0003 a0005c0008 a0005c0018 a0007c0009 a0007c0084 a0008c0006 a0008c0045 a0010c0011 a0013c0019 a0019c0024 a0020c0020 a0023c0017 a0024c0023 a0028c0034 a0033c0044 a0034c0046 a0039c0054 a0050c0089 a0055c0093	a0001c0002t0001 a0004c0003t0001 a0005c0008t0001 others(17): Show a0001c0002t0001 a0004c0003t0001 a0005c0008t0001 a0005c0018t0001 a0007c0009t0001 a0007c0084t0001 a0008c0006t0001 a0008c0045t0001 a0010c0011t0001 a0013c0019t0001 a0019c0024t0001 a0020c0020t0001 a0023c0017t0001 a0024c0023t0001 a0028c0034t0001 a0033c0044t0001 a0034c0046t0001 a0039c0054t0001 a0050c0089t0001 a0055c0093t0001	a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 others(38): Show a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0004c0003t0001g0193 a0004c0003t0001g0228 a0004c0003t0001g0246 a0004c0003t0001g0249 a0004c0003t0001g0252 a0004c0003t0001g0254 a0004c0003t0001g0256 a0004c0003t0001g0257 a0005c0008t0001g0323 a0005c0018t0001g0218 a0005c0018t0001g0219 a0007c0009t0001g0181 a0007c0084t0001g0217 a0008c0006t0001g0245 a0008c0006t0001g0250 a0008c0006t0001g0291 a0008c0006t0001g0292 a0008c0045t0001g0290 a0010c0011t0001g0229 a0010c0011t0001g0247 a0013c0019t0001g0248 a0019c0024t0001g0251 a0019c0024t0001g0293 a0020c0020t0001g0196 a0020c0020t0001g0253 a0023c0017t0001g0197 a0023c0017t0001g0200 a0023c0017t0001g0201 a0024c0023t0001g0243 a0024c0023t0001g0244 a0028c0034t0001g0191 a0033c0044t0001g0242 a0034c0046t0001g0255 a0039c0054t0001g0190 a0050c0089t0001g0220 a0055c0093t0001g0241	41	396	0.1035	27	c.757 others(42): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAAAAAA		MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41						chr5	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02897.hp2 NA18980.hp1 others(1): Show HG02109.hp1 HG02897.hp2 NA18980.hp1 NA18990.hp1	a0008 a0022 a0027 a0008 a0022 a0027	a0008c0006 a0022c0033 a0027c0051 a0008c0006 a0022c0033 a0027c0051	a0008c0006t0001 a0022c0033t0004 a0027c0051t0001 a0008c0006t0001 a0022c0033t0004 a0027c0051t0001	a0008c0006t0001g0057 a0008c0006t0001g0058 a0022c0033t0004g0008 others(1): Show a0008c0006t0001g0057 a0008c0006t0001g0058 a0022c0033t0004g0008 a0027c0051t0001g0287	4	380	0.0105	27	c.296 others(46): Show c.2965-1160_2965-1159insCTTTCTTTCTTTCTTTCTTTCTTTCT T		MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL1_chr4_77857830_77957785	77863461	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	302	0.0033	27	c.31+ others(40): Show c.31+603_31+604insTTTTTTTTTTTTTTTTTTTTTTTTTTT		MRPL1	ENSG00000169288.18	transcript	ENST00000315567.13	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(20): Show GCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp2 HG03486.hp1 HG00639.hp1 HG02818.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0004 a0001c0002t0001 a0003c0004t0001 a0001c0001t0004 a0001c0002t0001 a0003c0004t0001	a0001c0001t0004g0111 a0001c0002t0001g0134 a0003c0004t0001g0009 a0001c0001t0004g0111 a0001c0002t0001g0134 a0003c0004t0001g0009	3	394	0.0076	27	c.-8+ others(40): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAG		MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5						chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(20): Show GCTACCCCGGCCCCGGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp1 HG02280.hp2 others(10): Show HG01069.hp2 HG01891.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18976.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0005c0007 a0010c0017 a0001c0001 a0005c0007 a0010c0017	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0005c0007t0011 a0010c0017t0006	a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0203 others(9): Show a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0203 a0001c0001t0006g0055 a0001c0001t0006g0061 a0001c0001t0008g0024 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0060 a0005c0007t0011g0054 a0010c0017t0006g0062	13	394	0.0330	27	c.-8+ others(40): Show c.-8+108_-8+109insGGAGTGAGAGCCCCGGGGCCGGGGTAG		MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5						chr16	TogoVar
MRPL28_chr16_361969_375538	370394	C C	CCCCGGCC others(20): Show CCCCGGCCCCCGGGGCTCTCACTCCCTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0198 a0005c0007t0011g0198	1	394	0.0025	27	c.-8+ others(40): Show c.-8+104_-8+105insTAGGGAGTGAGAGCCCCGGGGGCCGGG		MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5						chr16	TogoVar
MRPL41_chr9_137546879_137557555	137550507	G G	GGCCCAGC others(20): Show GGCCCAGCGCGGCGGGGATGGGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	27	c.-14 others(38): Show c.-1480_-1479insGCCCAGCGCGGCGGGGATGGGGGCAGC		MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding					1371		chr9	TogoVar
MRPL41_chr9_137546879_137557555	137551746	C C	CGAGCCCC others(20): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	27	c.-24 others(36): Show c.-241_-240insGAGCCCCGCCCCGCGAGCCCCGCCCCG		MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding					132		chr9	TogoVar
MRPL46_chr15_88454478_88472388	88460165	T T	TTCAGCCC others(20): Show TTCAGCCCAGTCGCTATCTGCTGGCGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02056.hp2 others(18): Show HG01243.hp2 HG01346.hp1 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 HG03704.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0008t0001g0032 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0008t0001g0032 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0025 a0002c0002t0001g0027	21	292	0.0719	27	c.590 others(42): Show c.590-329_590-303dupTTCGCCAGCAGATAGCGACTGGGCTGA		MRPL46	ENSG00000259494.2	transcript	ENST00000312475.5	protein_coding	3/3						chr15	TogoVar
MRPL46_chr15_88454478_88472388	88460204	G G	GCTATCTG others(20): Show GCTATCTGCTGGCGAATCAGCCCAGTCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp2 HG01496.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0021 a0001c0007t0001g0021	2	292	0.0069	27	c.590 others(42): Show c.590-342_590-341insTGACTGGGCTGATTCGCCAGCAGATAG		MRPL46	ENSG00000259494.2	transcript	ENST00000312475.5	protein_coding	3/3						chr15	TogoVar
MRPS33_chr7_140997610_141019952	141000202	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	340	0.0029	27	c.62 others(38): Show c.6227_*6228insAAAAAAAAAAAAAAAAAAAAAAAAAAA		MRPS33	ENSG00000090263.16	transcript	ENST00000324787.10	protein_coding					2407		chr7	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTACTAC others(20): Show ACTACTACTACTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18989.hp1 NA19085.hp2 NA18955.hp2 NA18989.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	430	0.0070	27	c.202 others(44): Show c.202-2303_202-2302insACTACTACTTCTTCTTCTTCTTCTTCT		MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTACTAC others(20): Show ACTACTACTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01517.hp1 others(10): Show HG00738.hp1 HG01175.hp2 HG01517.hp1 HG01975.hp1 HG02257.hp2 HG03669.hp1 HG04115.hp2 NA18946.hp1 NA18965.hp1 NA19004.hp1 NA19005.hp2 NA19062.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0001g0086 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0261 a0001c0001t0001g0276	13	430	0.0302	27	c.202 others(44): Show c.202-2303_202-2302insACTACTTCTTCTTCTTCTTCTTCTTCT		MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTTCTTC others(20): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18972.hp2 NA18988.hp1 others(4): Show NA18942.hp2 NA18972.hp2 NA18988.hp1 NA18989.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0010 a0001c0004t0003g0173 a0001c0004t0003g0181 others(1): Show a0001c0004t0003g0010 a0001c0004t0003g0173 a0001c0004t0003g0181 a0001c0004t0003g0182	7	430	0.0163	27	c.202 others(44): Show c.202-2272_202-2246dupTCTTCTTCTTCTTCTTCTTCTTCTTCT		MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH3_chr5_80649652_80881815	80654899	G G	GCAGCGCC others(20): Show GCAGCGCCCCCAGCGCCCCCAGCGCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01496.hp1 HG02257.hp2 HG02451.hp1 others(2): Show HG01496.hp1 HG02257.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp2	a0020 a0021 a0038 a0020 a0021 a0038	a0020c0016 a0021c0015 a0038c0026 a0020c0016 a0021c0015 a0038c0026	a0020c0016t0005 a0021c0015t0005 a0038c0026t0005 a0020c0016t0005 a0021c0015t0005 a0038c0026t0005	a0020c0016t0005g0009 a0020c0016t0005g0010 a0021c0015t0005g0012 others(2): Show a0020c0016t0005g0009 a0020c0016t0005g0010 a0021c0015t0005g0012 a0021c0015t0005g0030 a0038c0026t0005g0011	5	362	0.0138	27	c.177 others(34): Show c.177_178insCCCCCAGCGCCCCCAGCGCCCCCAGCG	p.Ala others(38): Show p.Ala59_Ala60insProProAlaProProAlaProProAla	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	1/24	254/4443	178/3414	60/1137		INFO_REALIGN_3_PRIME	chr5	TogoVar

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