Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
M1AP_chr2_74552883_74653330	74561103	GAGGAGGA others(44): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	248	0.0040	-51	c.128 others(68): Show c.1282-863_1282-813delTCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCT	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1870241	ATAACACC others(44): Show ATAACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCGAC CG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	264	0.0038	-51	c.199 others(72): Show c.1998+27908_1998+27958delCGGTCGGTTCAGCGTGGCAGGCAT ATGTTGGGTTCAGCGTGGCAGGTGTTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2132372	TGTGCGAC others(44): Show TGTGCGACCGCGCGTCCACCATCACGGCCGCGTGCAGTCGGTTCACTGCT GC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0003c0014 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0001c0004t0003 a0001c0006t0001 a0001c0007t0004 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001 a0003c0014t0001 a0004c0008t0001	a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 others(98): Show a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0005g0137 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0015 a0001c0003t0001g0029 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0051 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0088 a0001c0004t0003g0116 a0001c0006t0001g0218 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0011t0001g0244 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0089 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0009t0001g0096 a0002c0012t0001g0044 a0003c0014t0001g0067 a0004c0008t0001g0194	101	264	0.3826	-51	c.107 others(72): Show c.1073+16729_1073+16779delGCAGCAGTGAACCGACTGCACGCG GCCGTGATGGTGGACGCGCGGTCGCAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238468	AATATATA others(44): Show AATATATAATATACATTATATATAATATATAATATAATATATAATGTATA TT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19063.hp1 NA18971.hp1 NA19063.hp1	a0001 a0026 a0001 a0026	a0001c0120 a0026c0063 a0001c0120 a0026c0063	a0001c0120t0001 a0026c0063t0001 a0001c0120t0001 a0026c0063t0001	a0001c0120t0001g0142 a0026c0063t0001g0041 a0001c0120t0001g0142 a0026c0063t0001g0041	2	152	0.0132	-51	c.299 others(72): Show c.2992-19183_2992-19133delATAATATATAATGTATATTATATA TAATATACATTATATATAATATATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19428971	CATAAATA others(44): Show CATAAATAGCCATATATTTTACTTTGGAAGTATTCCTGTATGTTATTATG GA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0127 a0006c0024t0001g0127	1	152	0.0066	-51	c.484 others(72): Show c.4846-21334_4846-21284delTAAATAGCCATATATTTTACTTTG GAAGTATTCCTGTATGTTATTATGGAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	28/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1B1_chr9_137081985_137114183	137114132	CCCCCGCC others(44): Show CCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCC GC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA20805.hp1 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0002g0238 a0001c0001t0001g0035 a0001c0001t0002g0238	2	404	0.0050	-51	c.55 others(62): Show c.5542_*5592delCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCC CCGCGACCCCCGCCCGC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4950		chr9	TogoVar
MAP3K12_chr12_53474669_53504458	53498953	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	328	0.0031	-51	c.-38 others(66): Show c.-38+423_-38+473delCACACACACACACACACACACACACACACA CACACACACACACACACACAC	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K15_chrX_19355059_19520508	19452300	GAAGAGAA others(44): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	163	0.0061	-51	c.995 others(68): Show c.995+4562_995+4612delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233339217	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	372	0.0054	-51	c.806 others(68): Show c.806-7201_806-7151delTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCTTCTTC	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MCF2L_chr13_112964214_113104742	113092378	AGAGCCGG others(44): Show AGAGCCGGGCCACTGCCCGTGGGTCATTTCCACCGTGGCCAGTGTGGTGT CG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA20805.hp1 HG03490.hp1 HG03492.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033	3	116	0.0259	-51	c.295 others(70): Show c.2954-2135_2954-2085delGAGCCGGGCCACTGCCCGTGGGTCAT TTCCACCGTGGCCAGTGTGGTGTCG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	26/29			chr13	TogoVar
MED16_chr19_862963_898187	866515	ACCAGTGC others(44): Show ACCAGTGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCT CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0011 a0002c0007t0001g0011	1	56	0.0179	-51	c.15 others(62): Show c.1535_*1585delCGAGGGGTGCAGGCCTGCGGCGGGTGGACGGGGA GGAGATGGGAGCACTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1447		chr19	TogoVar
MED16_chr19_862963_898187	866520	TGCTCCCA others(44): Show TGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCTCGCCA GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0038 a0001c0001t0001g0040	2	56	0.0357	-51	c.15 others(62): Show c.1530_*1580delGCTGGCGAGGGGTGCAGGCCTGCGGCGGGTGGAC GGGGAGGAGATGGGAGC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1442		chr19	TogoVar
MED16_chr19_862963_898187	866580	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01070.hp1 others(30): Show HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01258.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0001c0016 a0002c0003 a0002c0008 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0003c0021 a0004c0010 a0007c0019 a0009c0024	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 a0001c0013t0001 a0001c0014t0003 a0001c0016t0004 a0002c0003t0001 a0002c0008t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0003c0021t0001 a0004c0010t0001 a0007c0019t0001 a0009c0024t0003	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0009g0056 others(30): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0009g0056 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0047 a0001c0002t0002g0020 a0001c0004t0001g0016 a0001c0004t0008g0054 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0013t0001g0032 a0001c0014t0003g0002 a0001c0016t0004g0024 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0013 a0002c0003t0001g0036 a0002c0008t0001g0018 a0002c0012t0005g0025 a0002c0020t0001g0009 a0002c0022t0001g0012 a0002c0023t0001g0006 a0003c0021t0001g0004 a0004c0010t0001g0051 a0007c0019t0001g0017 a0009c0024t0003g0001	33	56	0.5893	-51	c.14 others(62): Show c.1470_*1520delCATGGGAGCGCTGGCGAGGGGTGCAGGCCCGCGG CGGGTGGACGGGGAGGA	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1382		chr19	TogoVar
MED16_chr19_862963_898187	866848	GCCCACTG others(44): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01070.hp1 others(18): Show HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp2 HG01258.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18970.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0003 a0002c0008 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0003c0021 a0007c0019 a0009c0024	a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 a0001c0004t0008 a0001c0006t0001 a0001c0013t0001 a0002c0003t0001 a0002c0008t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0003c0021t0001 a0007c0019t0001 a0009c0024t0003	a0001c0001t0001g0046 a0001c0001t0009g0056 a0001c0004t0001g0016 others(18): Show a0001c0001t0001g0046 a0001c0001t0009g0056 a0001c0004t0001g0016 a0001c0004t0008g0054 a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0013t0001g0032 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0013 a0002c0003t0001g0036 a0002c0008t0001g0018 a0002c0012t0005g0025 a0002c0020t0001g0009 a0002c0022t0001g0012 a0002c0023t0001g0006 a0003c0021t0001g0004 a0007c0019t0001g0017 a0009c0024t0003g0001	21	56	0.3750	-51	c.12 others(62): Show c.1202_*1252delTGGACGGAGAGGAGATGGGAGCGCTGGCGAGGGG TGCGGGCCCGCAGTGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1114		chr19	TogoVar
MGAM_chr7_141990879_142111747	142042227	TATATAAC others(44): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT AC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0037 a0037	a0037c0062 a0037c0062	a0037c0062t0001 a0037c0062t0001	a0037c0062t0001g0233 a0037c0062t0001g0233	1	316	0.0032	-51	c.249 others(70): Show c.2498+1388_2498+1438delCATATATTATATATACATATAATATA TAACATATATTATATATACATATAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042314	TATATAAC others(44): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT AC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02738.hp1 NA18612.hp2 others(1): Show HG01928.hp1 HG02738.hp1 NA18612.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0011 others(1): Show a0001c0004 a0001c0005 a0001c0011 a0001c0076	a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 others(1): Show a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0076t0001	a0001c0004t0001g0114 a0001c0005t0001g0112 a0001c0011t0001g0302 others(1): Show a0001c0004t0001g0114 a0001c0005t0001g0112 a0001c0011t0001g0302 a0001c0076t0001g0217	4	316	0.0127	-51	c.249 others(70): Show c.2498+1475_2498+1525delCATATATTATATATACATATAATATA TAACATATATTATATATACATATAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042340	TAATATAT others(44): Show TAATATATAACATATATTATATATACATATAATATATAACATATATTATA TA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0055 a0055	a0055c0048 a0055c0048	a0055c0048t0001 a0055c0048t0001	a0055c0048t0001g0298 a0055c0048t0001g0298	1	316	0.0032	-51	c.249 others(70): Show c.2498+1495_2498+1545delAATATATAACATATATTATATATACA TATAATATATAACATATATTATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MGAT4B_chr5_179792610_179811866	179811342	CTATGCAG others(44): Show CTATGCAGGGGGAGGAGCTATGCAGGGGGAGGAGCATGCAGGGGGAGGAG CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG01168.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	412	0.0049	-51	c.-48 others(62): Show c.-4810_-4760delAGCTCCTCCCCCTGCATGCTCCTCCCCCTGCATA GCTCCTCCCCCTGCATA	MGAT4B	ENSG00000161013.17	transcript	ENST00000292591.12	protein_coding		4477		chr5	TogoVar
MGAT5_chr2_134249072_134459621	134381331	ATAGATAG others(44): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGATAAGATAG AT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG01070.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0090 a0001c0001t0006 a0001c0001t0090	a0001c0001t0006g0261 a0001c0001t0090g0262 a0001c0001t0006g0261 a0001c0001t0090g0262	2	282	0.0071	-51	c.138 others(72): Show c.1380+18962_1380+19012delAGATAAGATAGATTAGATAGATAG ATAGATAGATAGATAGATAGATAGATA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MIA2_chr14_39228915_39355694	39277671	TTTATATA others(44): Show TTTATATATATATATATGTGTGTATATATATATATATATATATATGTGTG TA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	368	0.0027	-51	c.201 others(68): Show c.2019+608_2019+658delTATATATATATATATGTGTGTATATATA TATATATATATATATGTGTGTAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB2_chr1_1610500_1635605	1627438	CCCTGGGG others(44): Show CCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCGGGGCTGAGCCTGTGC GT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(26): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01123.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03831.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18969.hp2 NA18986.hp2 NA19070.hp2 NA19091.hp1 NA19240.hp2	a0002 a0012 a0013 others(1): Show a0002 a0012 a0013 a0014	a0002c0003 a0002c0010 a0002c0017 others(5): Show a0002c0003 a0002c0010 a0002c0017 a0002c0026 a0002c0030 a0012c0028 a0013c0027 a0014c0025	a0002c0003t0001 a0002c0003t0002 a0002c0010t0002 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0010t0002 a0002c0017t0001 a0002c0026t0001 a0002c0030t0001 a0012c0028t0002 a0013c0027t0001 a0014c0025t0001	a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0002g0022 others(16): Show a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0002g0022 a0002c0003t0002g0030 a0002c0003t0002g0104 a0002c0003t0002g0105 a0002c0003t0002g0106 a0002c0003t0002g0129 a0002c0003t0002g0131 a0002c0010t0002g0114 a0002c0010t0002g0115 a0002c0010t0002g0128 a0002c0010t0002g0139 a0002c0017t0001g0069 a0002c0026t0001g0009 a0002c0030t0001g0009 a0012c0028t0002g0103 a0013c0027t0001g0009 a0014c0025t0001g0066	29	412	0.0704	-51	c.152 others(67): Show c.1523+75_1524-104delCGGCGGGGCTGAGCCTGTGCGTCCTGGGG TGAGGCCTGGGAGGGGCCCGGC	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLC1_chr22_50054391_50090426	50060759	TGTGGCAC others(44): Show TGTGGCACTCCAAGCTGGGCATGACAGTGCCCGGGACGTGGGCAGCGGCC AC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01255.hp2 others(9): Show HG00733.hp2 HG01243.hp1 HG01255.hp2 HG01496.hp2 HG02004.hp2 HG02148.hp2 HG02273.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0005t0013 a0001c0009t0014	a0001c0001t0009g0011 a0001c0001t0009g0078 a0001c0001t0009g0088 others(7): Show a0001c0001t0009g0011 a0001c0001t0009g0078 a0001c0001t0009g0088 a0001c0001t0010g0014 a0001c0001t0012g0108 a0001c0001t0012g0116 a0001c0001t0013g0089 a0001c0001t0016g0107 a0001c0005t0013g0064 a0001c0009t0014g0105	12	212	0.0566	-51	c.77 others(60): Show c.773_*823delGTGGCCGCTGCCCACGTCCCGGGCACTGTCATGCCC AGCTTGGAGTGCCAC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	12/12	773		chr22	TogoVar
MLPH_chr2_237482251_237560322	237542921	TGGGGACA others(44): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01099.hp1 others(36): Show HG00140.hp1 HG00642.hp2 HG01099.hp1 HG02056.hp2 HG02074.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18948.hp1 NA19003.hp2 NA19011.hp1 NA19081.hp1 NA19082.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0015 a0017 a0031 a0032 a0034	a0001c0001 a0002c0002 a0002c0049 others(10): Show a0001c0001 a0002c0002 a0002c0049 a0003c0003 a0004c0005 a0006c0006 a0007c0007 a0009c0011 a0015c0024 a0017c0020 a0031c0028 a0032c0047 a0034c0032	a0001c0001t0002 a0002c0002t0002 a0002c0049t0002 others(15): Show a0001c0001t0002 a0002c0002t0002 a0002c0049t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0005t0004 a0006c0006t0003 a0006c0006t0005 a0007c0007t0002 a0009c0011t0001 a0015c0024t0001 a0017c0020t0002 a0017c0020t0009 a0031c0028t0001 a0032c0047t0005 a0034c0032t0002	a0001c0001t0002g0098 a0001c0001t0002g0099 a0002c0002t0002g0062 others(36): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0002c0002t0002g0062 a0002c0002t0002g0085 a0002c0002t0002g0095 a0002c0049t0002g0060 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0111 a0003c0003t0001g0229 a0003c0003t0001g0239 a0003c0003t0002g0023 a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0262 a0003c0003t0003g0125 a0003c0003t0003g0134 a0003c0003t0003g0241 a0003c0003t0005g0136 a0004c0005t0004g0191 a0006c0006t0003g0120 a0006c0006t0005g0020 a0006c0006t0005g0139 a0007c0007t0002g0029 a0007c0007t0002g0030 a0007c0007t0002g0031 a0007c0007t0002g0032 a0007c0007t0002g0034 a0007c0007t0002g0227 a0007c0007t0002g0228 a0009c0011t0001g0088 a0009c0011t0001g0089 a0015c0024t0001g0140 a0017c0020t0002g0173 a0017c0020t0009g0172 a0031c0028t0001g0128 a0032c0047t0005g0036 a0034c0032t0002g0049	39	286	0.1364	-51	c.153 others(68): Show c.1539+267_1539+317delACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543041	TGGGGGGA others(44): Show TGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTG AG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0003 a0013c0017t0003	a0013c0017t0003g0005 a0013c0017t0003g0006 a0013c0017t0003g0005 a0013c0017t0003g0006	2	286	0.0070	-51	c.153 others(68): Show c.1539+383_1539+433delGGGGGGACAGTGGTGAGTGGGCACGGTA GTGAGTGGGGAGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543213	TTGGGGGA others(44): Show TTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTG AA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18941.hp1 NA18980.hp1 HG00621.hp2 NA18941.hp1 NA18980.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0002 a0005c0004t0001 a0005c0004t0002	a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0002g0009 a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0002g0009	3	286	0.0105	-51	c.153 others(68): Show c.1539+571_1539+621delGTGGGCACAGTAGTGAGTAGGGGGACAG TGGTGAATGGGGGACAGTGGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543247	TAGGGGGA others(44): Show TAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTG AG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02886.hp2 others(1): Show HG02258.hp2 HG02717.hp1 HG02886.hp2 HG02976.hp1	a0004 a0009 a0012 a0004 a0009 a0012	a0004c0014 a0009c0029 a0012c0013 a0004c0014 a0009c0029 a0012c0013	a0004c0014t0002 a0009c0029t0001 a0012c0013t0002 a0004c0014t0002 a0009c0029t0001 a0012c0013t0002	a0004c0014t0002g0260 a0004c0014t0002g0261 a0009c0029t0001g0124 others(1): Show a0004c0014t0002g0260 a0004c0014t0002g0261 a0009c0029t0001g0124 a0012c0013t0002g0123	4	286	0.0140	-51	c.153 others(68): Show c.1539+589_1539+639delAGGGGGACAGTGGTGAATGGGGGACAGT GGTGAATGGGGGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543634	GACAGTGG others(44): Show GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGG GC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	286	0.0035	-51	c.153 others(69): Show c.1539+976_1539+1026delACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589170	TATAAATA others(44): Show TATAAATATAAAATACATTTATATTTATTAATATAAAAATAAAATATATT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG03139.hp2 others(2): Show HG01433.hp2 HG02559.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0040 a0001c0008t0001g0155 a0001c0008t0001g0173 others(2): Show a0001c0008t0001g0040 a0001c0008t0001g0155 a0001c0008t0001g0173 a0001c0008t0001g0185 a0001c0008t0001g0250	5	276	0.0181	-51	c.46 others(62): Show c.4644_*4694delTAAATATATTTTATTTTTATATTAATAAATATAA ATGTATTTTATATTTAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4031		chr7	TogoVar
MMP23B_chr1_1627173_1639654	1627438	CCCTGGGG others(44): Show CCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCGGGGCTGAGCCTGTGC GT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp2 others(26): Show HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01123.hp2 HG02056.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03831.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp2 NA18969.hp1 NA18986.hp2 NA19070.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0050	29	432	0.0671	-51	c.-47 others(62): Show c.-4780_-4730delCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCG GGGCTGAGCCTGTGCGT	MMP23B	ENSG00000189409.14	transcript	ENST00000356026.10	protein_coding		4734		chr1	TogoVar
MOB3A_chr19_2066036_2101326	2068957	GGAGGCTG others(44): Show GGAGGCTGAGGCAGGAGAATCGCTTGAGCCCAGGAGGCGGAGGTTGTAGT GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0170 a0001c0004t0006g0170	1	400	0.0025	-51	c.43 others(62): Show c.4387_*4437delTCACTACAACCTCCGCCTCCTGGGCTCAAGCGAT TCTCCTGCCTCAGCCTC	MOB3A	ENSG00000172081.14	transcript	ENST00000357066.8	protein_coding		2078		chr19	TogoVar
MOB3B_chr9_27320209_27534814	27475098	CAGCTGCC others(44): Show CAGCTGCCATGTTGTGAGCTCTCCTCCTGAGAGGCCCACATAGCAAGGAA CT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0196	a0001c0001t0196g0261 a0001c0001t0196g0261	1	320	0.0031	-51	c.-19 others(72): Show c.-198-19401_-198-19351delAGTTCCTTGCTATGTGGGCCTCTC AGGAGGAGAGCTCACAACATGGCAGCT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	1/3			chr9	TogoVar
MPP7_chr10_28045993_28308064	28262224	TACATATA others(44): Show TACATATATATATATATATACATATATATATATATGTATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 NA18942.hp2 others(6): Show HG00438.hp2 HG00597.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18973.hp2 NA18988.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 others(6): Show a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0003t0003g0202 a0001c0003t0003g0204 a0001c0003t0003g0206 a0001c0003t0003g0210 a0001c0003t0003g0211	9	300	0.0300	-51	c.-13 others(72): Show c.-131-23540_-131-23490delTATATATATATATATACATATATA TATATATGTATATATATATATATATGT	MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16			chr10	TogoVar
MPPED1_chr22_43407014_43512848	43491462	GATGGAGG others(44): Show GATGGAGGTGGTGGTGGTGGTGATGGAGGTTGTAATGATGGAGGTGGTGG TT	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	250	0.0040	-51	c.633 others(68): Show c.633-6758_633-6708delGGTGGTGATGGAGGTTGTAATGATGGAG GTGGTGGTTATGGAGGTGGTGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495818	GTGGTGGT others(44): Show GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	250	0.0040	-51	c.633 others(68): Show c.633-2374_633-2324delTGGTGGAGATGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496526	ATGGTGGT others(44): Show ATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGGT GG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0130 a0001c0001t0023g0130	1	250	0.0040	-51	c.633 others(68): Show c.633-1679_633-1629delATAGTGGTGGTGGAGATGGTGGTGGTGG TGGTGGAGATGGTGGTGGTGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499828	TGGTGATG others(44): Show TGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATG GA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	250	0.0040	-51	c.748 others(68): Show c.748+1483_748+1533delATGGAGGTGGTGGTGGTGATGGTGGAGG TGGTGGTGGTGGTGATGGAGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500221	TGGTGGAG others(44): Show TGGTGGAGGTGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01433.hp2 HG02486.hp1 HG02572.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03688.hp1 HG03942.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0004 a0001c0001t0008 a0001c0003t0002 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0003t0002 a0001c0003t0027 a0001c0005t0004 a0001c0006t0017 a0001c0007t0002	a0001c0001t0004g0097 a0001c0001t0008g0179 a0001c0003t0002g0241 others(6): Show a0001c0001t0004g0097 a0001c0001t0008g0179 a0001c0003t0002g0241 a0001c0003t0027g0212 a0001c0005t0004g0017 a0001c0006t0017g0170 a0001c0006t0017g0193 a0001c0007t0002g0198 a0001c0007t0002g0203	9	250	0.0360	-51	c.748 others(68): Show c.748+1877_748+1927delAGGTGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3216168	TCTGAGCC others(44): Show TCTGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02083.hp1 others(22): Show HG00408.hp2 HG02027.hp1 HG02083.hp1 HG03225.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19012.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19088.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0000 a0009c0010t0000 a0001c0001t0000 a0009c0010t0000	a0001c0001t0000g0000 a0009c0010t0000g0000 a0001c0001t0000g0000 a0009c0010t0000g0000	25	426	0.0587	-51	c.17 others(62): Show c.1725_*1775delGAGGATGGGAGTGTGGGCACTGTTGGTCTGAAGG CCATCTGGGGGGCTCAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1775		chr11	TogoVar
MROH2A_chr2_233773330_233838418	233787947	ATTATATA others(44): Show ATTATATATACATATATTATATATACATATATATTATATATACATATATT AT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03490.hp2 others(4): Show HG01070.hp1 HG01071.hp2 HG03490.hp2 NA18944.hp1 NA18977.hp2 NA18979.hp2 NA19066.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0014	a0001c0001 a0003c0002 a0003c0105 others(2): Show a0001c0001 a0003c0002 a0003c0105 a0007c0103 a0014c0019	a0001c0001t0001 a0003c0002t0001 a0003c0105t0001 others(2): Show a0001c0001t0001 a0003c0002t0001 a0003c0105t0001 a0007c0103t0001 a0014c0019t0001	a0001c0001t0001g0009 a0003c0002t0001g0314 a0003c0002t0001g0316 others(3): Show a0001c0001t0001g0009 a0003c0002t0001g0314 a0003c0002t0001g0316 a0003c0105t0001g0300 a0007c0103t0001g0315 a0014c0019t0001g0301	7	378	0.0185	-51	c.277 others(68): Show c.277-1549_277-1499delTTATATATACATATATTATATATACATA TATATTATATATACATATATTAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MRPL23_chr11_1942332_1961600	1943239	GTGAACGG others(44): Show GTGAACGGCCCCTCCCCCACCCTCTGAATGAATGAATGAGTGAGTGTATG TA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0022 a0004c0004t0001g0022	1	401	0.0025	-51	c.-41 others(62): Show c.-4123_-4073delTGAACGGCCCCTCCCCCACCCTCTGAATGAATGA ATGAGTGAGTGTATGTA	MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding		4092		chr11	TogoVar
MRPL45_chr17_38292168_38328211	38313306	AAAAAAAT others(44): Show AAAAAAATATATATATATATATATATACATATATATATATACGTATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	287	0.0035	-51	c.462 others(68): Show c.462-5379_462-5329delAAAAATATATATATATATATATATACAT ATATATATATACGTATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSANTD2_chr11_124761498_124805406	124765979	TCAGCTGC others(44): Show TCAGCTGCTCAGGAAGCTTTGAGGCAGGAGGATTACTTGAGCCCAGGAGT TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01346.hp1 HG01981.hp2 others(4): Show HG01258.hp1 HG01346.hp1 HG01981.hp2 HG01993.hp1 HG02293.hp1 HG02300.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0174	7	324	0.0216	-51	c.11 others(62): Show c.1146_*1196delGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAA AGCTTCCTGAGCAGCTG	MSANTD2	ENSG00000120458.13	transcript	ENST00000374979.8	protein_coding		518		chr11	TogoVar
MT4_chr16_56560073_56573957	56568216	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	428	0.0023	-51	c.97+ others(64): Show c.97+402_97+452delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195767697	AAAAAATA others(44): Show AAAAAATACCACCATCGGCCACCACCACCATCACCACCACCATCACCATC GC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0146 a0146	a0146c0072 a0146c0072	a0146c0072t0001 a0146c0072t0001	a0146c0072t0001g0171 a0146c0072t0001g0171	1	249	0.0040	-51	c.135 others(70): Show c.13530-997_13530-947delGCGATGGTGATGGTGGTGGTGATGGT GGTGGTGGCCGATGGTGGTATTTTT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MYEF2_chr15_48129632_48183295	48152993	TTACCCTC others(44): Show TTACCCTCATTCTCTTGAGTTTAAGGTGTAATTTTCCAAACACTATATGA TG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02257.hp2 others(12): Show HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03486.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 a0001c0001t0028 a0001c0001t0049	a0001c0001t0005g0010 a0001c0001t0005g0035 a0001c0001t0005g0045 others(8): Show a0001c0001t0005g0010 a0001c0001t0005g0035 a0001c0001t0005g0045 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0014g0132 a0001c0001t0023g0125 a0001c0001t0028g0121 a0001c0001t0049g0124	15	264	0.0568	-51	c.108 others(68): Show c.1087+748_1088-710delCATCATATAGTGTTTGGAAAATTACACC TTAAACTCAAGAGAATGAGGGTA	MYEF2	ENSG00000104177.20	transcript	ENST00000324324.12	protein_coding	10/16			chr15	TogoVar
MYO18A_chr17_29066122_29185398	29116649	GTGTAATC others(44): Show GTGTAATCACACTGACACACACAGAAAGAGACCCGCAAAGACATTTGTGC AC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	306	0.0033	-51	c.203 others(68): Show c.2039-245_2039-195delGTGCACAAATGTCTTTGCGGGTCTCTTT CTGTGTGTGTCAGTGTGATTACA	MYO18A	ENSG00000196535.20	transcript	ENST00000527372.7	protein_coding	10/41			chr17	TogoVar
MYO7B_chr2_127530683_127642726	127619230	TTGGGTTG others(44): Show TTGGGTTGTGGGGGCTGGTTGGGTTGTGGCCAGTTGGATGGTGGTGGCTG GC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG03225.hp2 others(1): Show HG02630.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1	a0010 a0023 a0010 a0023	a0010c0016 a0023c0048 a0010c0016 a0023c0048	a0010c0016t0001 a0023c0048t0001 a0010c0016t0001 a0023c0048t0001	a0010c0016t0001g0005 a0010c0016t0001g0138 a0023c0048t0001g0129 a0010c0016t0001g0005 a0010c0016t0001g0138 a0023c0048t0001g0129	4	282	0.0142	-51	c.339 others(70): Show c.3399-1104_3399-1054delTGTGGGGGCTGGTTGGGTTGTGGCCA GTTGGATGGTGGTGGCTGGCTGGGT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2081063	TTTGGTTC others(44): Show TTTGGTTCTGATCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGA GG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0047 a0047	a0047c0202 a0047c0202	a0047c0202t0001 a0047c0202t0001	a0047c0202t0001g0166 a0047c0202t0001g0166	1	403	0.0025	-51	c.151 others(70): Show c.1516+1460_1516+1510delATCTGCGGGAGGAACAGGCAGCCCAG CCCGTGTAGAATGAGGTTGGTTCTG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2081168	TGGTTCTG others(44): Show TGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATGAGG TG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0312 a0009c0012t0001g0312	1	403	0.0025	-51	c.151 others(70): Show c.1516+1606_1516+1656delGGGTTCTGGCCTGCGGGAGGAACAGG CAGCCCAGCCCGTGTAGAATGAGGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086198	GCGTGGCC others(44): Show GCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCT TT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0089 a0007c0089	a0007c0089t0001 a0007c0089t0001	a0007c0089t0001g0226 a0007c0089t0001g0226	1	403	0.0025	-51	c.164 others(68): Show c.1644+809_1644+859delCGTGGCCCCACTGTCATGATCTCTTTGT GGCCCCCCACTGTTGTGATCTTT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar

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