Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
LRBA_chr4_150259435_151020284	150639741	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp1 HG00423.hp2 HG02132.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0002 a0003c0012t0003 a0001c0001t0002 a0003c0012t0003	a0001c0001t0002g0040 a0003c0012t0003g0089 a0001c0001t0002g0040 a0003c0012t0003g0089	2	180	0.0111	-50	c.592 others(71): Show c.5922-40660_5922-40611delCACACACACATATATATATATATA TATATATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150639769	ATATATAT others(43): Show ATATATATATATATGTGTGTGTGTATATATATATATATGTGTGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02109.hp1 others(6): Show HG01515.hp1 HG01517.hp1 HG02109.hp1 HG02723.hp2 NA18612.hp2 NA18948.hp1 NA18957.hp2 NA18984.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0153 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0153 a0001c0001t0002g0012 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0005g0030 a0001c0001t0005g0033 a0001c0005t0001g0160	9	180	0.0500	-50	c.592 others(71): Show c.5922-40688_5922-40639delCACACACACACACATATATATATA TATACACACACACATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRIG2_chr1_113068198_113137260	113069610	AGCCAGCC others(43): Show AGCCAGCCAACCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCC G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18961.hp1 NA18965.hp1 others(2): Show NA18954.hp2 NA18961.hp1 NA18965.hp1 NA18985.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0043 a0001c0001t0023 a0001c0001t0024 a0001c0001t0043	a0001c0001t0023g0003 a0001c0001t0023g0081 a0001c0001t0024g0003 others(2): Show a0001c0001t0023g0003 a0001c0001t0023g0081 a0001c0001t0024g0003 a0001c0001t0024g0104 a0001c0001t0043g0108	5	268	0.0187	-50	c.-37 others(61): Show c.-3796_-3747delGCCAGCCAACCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCG	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		3587		chr1	TogoVar
LRIG2_chr1_113068198_113137260	113069831	TGCCCGGC others(43): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02273.hp1 HG01928.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0065 a0001c0001t0014g0094 a0001c0001t0006g0065 a0001c0001t0014g0094	2	268	0.0075	-50	c.-35 others(61): Show c.-3575_-3526delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCC	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		3366		chr1	TogoVar
LRIG2_chr1_113068198_113137260	113070089	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(91): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03098.hp2 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18972.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0008 a0002c0004 others(1): Show a0001c0001 a0001c0008 a0002c0004 a0009c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0067 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0086 a0001c0008t0001 a0002c0004t0001 a0009c0007t0077	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0004g0017 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0049 a0001c0001t0004g0110 a0001c0001t0006g0065 a0001c0001t0006g0084 a0001c0001t0006g0090 a0001c0001t0006g0092 a0001c0001t0006g0113 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0010g0103 a0001c0001t0012g0050 a0001c0001t0012g0056 a0001c0001t0012g0057 a0001c0001t0013g0009 a0001c0001t0013g0055 a0001c0001t0014g0094 a0001c0001t0016g0007 a0001c0001t0016g0074 a0001c0001t0016g0077 a0001c0001t0019g0032 a0001c0001t0019g0059 a0001c0001t0019g0063 a0001c0001t0022g0020 a0001c0001t0022g0093 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0001t0024g0104 a0001c0001t0030g0080 a0001c0001t0031g0002 a0001c0001t0031g0042 a0001c0001t0032g0105 a0001c0001t0032g0107 a0001c0001t0036g0047 a0001c0001t0036g0048 a0001c0001t0038g0006 a0001c0001t0040g0027 a0001c0001t0042g0101 a0001c0001t0045g0096 a0001c0001t0048g0089 a0001c0001t0049g0025 a0001c0001t0067g0086 a0001c0001t0073g0053 a0001c0001t0074g0052 a0001c0001t0075g0043 a0001c0001t0076g0062 a0001c0001t0079g0054 a0001c0001t0080g0014 a0001c0001t0081g0035 a0001c0001t0086g0021 a0001c0008t0001g0078 a0002c0004t0001g0008 a0009c0007t0077g0039	94	268	0.3508	-50	c.-33 others(61): Show c.-3317_-3268delGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTG	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		3108		chr1	TogoVar
LRP1B_chr2_140226423_142136016	141810095	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0005 a0001c0012t0003g0005	1	28	0.0357	-50	c.205 others(65): Show c.205+134_205+183delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRRC27_chr10_132327193_132386508	132352082	GCTCCGTG others(43): Show GCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGG C	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03704.hp2 HG02698.hp2 HG03704.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0102 a0001c0011t0001g0103 a0001c0011t0001g0102 a0001c0011t0001g0103	2	290	0.0069	-50	c.107 others(67): Show c.1073+345_1073+394delATGCTGAGGCCTCCGTGTGGGGCAGGCG CTGAGGCCTCCGTGTGGGGCAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132352099	TGCTGAGG others(43): Show TGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGG C	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03516.hp2 others(1): Show HG02922.hp2 HG02965.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0021 a0001c0001t0047 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0047 a0001c0009t0002	a0001c0001t0002g0285 a0001c0001t0021g0287 a0001c0001t0047g0286 others(1): Show a0001c0001t0002g0285 a0001c0001t0021g0287 a0001c0001t0047g0286 a0001c0009t0002g0283	4	290	0.0138	-50	c.107 others(67): Show c.1073+421_1073+470delCGCTGAGGCCTCCGTGTGGGGCAGGCGC TGAGGCCTCCGTGTGGGGCAGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC47_chr1_3773559_3801498	3800476	GCTCTGTG others(43): Show GCTCTGTGGTGCCGCCTGGGTCTCTGTGCCATCTGGACCTAACACAGGTC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	412	0.0024	-50	c.-40 others(61): Show c.-4050_-4001delTGACCTGTGTTAGGTCCAGATGGCACAGAGACCC AGGCGGCACCACAGAG	LRRC47	ENSG00000130764.10	transcript	ENST00000378251.3	protein_coding		3979		chr1	TogoVar
LRRC7_chr1_69562922_70149364	69717804	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAG G	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02559.hp2 others(4): Show HG01167.hp1 HG02055.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0007 a0001c0001 a0001c0004 a0003c0007	a0001c0001t0003 a0001c0001t0023 a0001c0001t0063 others(4): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0063 a0001c0001t0068 a0001c0004t0057 a0001c0004t0060 a0003c0007t0054	a0001c0001t0003g0022 a0001c0001t0023g0036 a0001c0001t0063g0057 others(4): Show a0001c0001t0003g0022 a0001c0001t0023g0036 a0001c0001t0063g0057 a0001c0001t0068g0069 a0001c0004t0057g0060 a0001c0004t0060g0059 a0003c0007t0054g0048	7	108	0.0648	-50	c.100 others(69): Show c.100+39328_100+39377delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAAAGAAAGAAAGGA	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC9_chr14_59915144_60071817	59975090	TATATATA others(43): Show TATATATATATACATATATATATGTATATATATATATGTATATATATATA C	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0197 a0002c0003t0005g0197	1	322	0.0031	-50	c.163 others(67): Show c.1639+393_1639+442delACATATATATATGTATATATATATATGT ATATATATATACATATATATAT	LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	13/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRC9_chr14_59915144_60071817	59975101	ACATATAT others(43): Show ACATATATATATGTATATATATATATGTATATATATATACATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02572.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0001t0001g0016 a0001c0001t0001g0091	2	322	0.0062	-50	c.163 others(67): Show c.1639+394_1639+443delCATATATATATGTATATATATATATGTA TATATATATACATATATATATG	LRRC9	ENSG00000131951.12	transcript	ENST00000570145.2	protein_coding	13/32			chr14	TogoVar
LRTM2_chr12_1815565_1841753	1840284	GCCCGCCA others(43): Show GCCCGCCAGCCTTTCTTTCAGCTACAGAATGCCTCAGTAATGCTCTATTA A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02738.hp1 HG02602.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0046 a0001c0001t0003 a0001c0001t0046	a0001c0001t0003g0305 a0001c0001t0046g0275 a0001c0001t0003g0305 a0001c0001t0046g0275	2	462	0.0043	-50	c.55 others(61): Show c.5564_*5613delCCCGCCAGCCTTTCTTTCAGCTACAGAATGCCTC AGTAATGCTCTATTAA	LRTM2	ENSG00000166159.11	transcript	ENST00000299194.6	protein_coding		3532		chr12	TogoVar
LSG1_chr3_194635791_194677191	194645525	CACACAGA others(43): Show CACACAGACAGACACACACACACACACACACACACACACACACACAGACA G	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0266 a0001c0001t0011g0266	1	408	0.0025	-50	c.162 others(67): Show c.1623+589_1623+638delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTCTGTCTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LUZP2_chr11_24492053_25087638	24926306	TGTGTATA others(43): Show TGTGTATATATATACGTGTGTGTATATATATATACGTGTGTATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03471.hp1 others(1): Show HG02280.hp2 HG02717.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0037 a0001c0003t0015 a0001c0001t0004 a0001c0001t0037 a0001c0003t0015	a0001c0001t0004g0105 a0001c0001t0037g0110 a0001c0003t0015g0069 others(1): Show a0001c0001t0004g0105 a0001c0001t0037g0110 a0001c0003t0015g0069 a0001c0003t0015g0091	4	116	0.0345	-50	c.522 others(69): Show c.522+11773_522+11822delATATATATACGTGTGTGTATATATAT ATACGTGTGTATATATATACGTGT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6D_chr8_142779882_142791539	142789598	GGGGCCCT others(43): Show GGGGCCCTGGGCTGGAGGAGCTGGCTGAGTGGGTGCCTGGTGGACAAGTC A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG01981.hp2 others(47): Show HG01106.hp2 HG01346.hp2 HG01981.hp2 HG02015.hp1 HG02257.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02970.hp1 HG03486.hp1 HG03491.hp2 HG03688.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18946.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0005c0005	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0003t0001g0011 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0017 a0001c0007t0001g0018 a0005c0005t0001g0019	50	434	0.1152	-50	c.-31 others(61): Show c.-3132_-3083delTGACTTGTCCACCAGGCACCCACTCAGCCAGCTC CTCCAGCCCAGGGCCC	LY6D	ENSG00000167656.5	transcript	ENST00000301263.5	protein_coding		3060		chr8	TogoVar
LYPD5_chr19_43790927_43807447	43798159	TTGCCTCC others(43): Show TTGCCTCCTCCCTCAGACCAGGGTCATGCCTCCTCCCTCAGACCAGGGTC A	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG02615.hp2 others(2): Show HG01261.hp1 HG02145.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0004 a0004c0007t0015 a0001c0004t0004 a0004c0007t0015	a0001c0004t0004g0017 a0004c0007t0015g0049 a0004c0007t0015g0050 a0001c0004t0004g0017 a0004c0007t0015g0049 a0004c0007t0015g0050	5	428	0.0117	-50	c.517 others(65): Show c.517+246_517+295delTGACCCTGGTCTGAGGGAGGAGGCATGACC CTGGTCTGAGGGAGGAGGCA	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding	4/4			chr19	TogoVar
LYZL6_chr17_35929518_35948713	35938646	CCCACAAA others(43): Show CCCACAAAGCAAGATTAAAGGACAAAAGTGTTGCAAGACAGGTGCACACA A	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	415	0.0024	-50	c.139 others(65): Show c.139+522_139+571delTTGTGTGCACCTGTCTTGCAACACTTTTGT CCTTTAATCTTGCTTTGTGG	LYZL6	ENSG00000275722.5	transcript	ENST00000615905.5	protein_coding	2/4			chr17	TogoVar
MAD1L1_chr7_1810795_2237945	1871214	ACCTGCCA others(43): Show ACCTGCCACGCTGAACCCAACATACGCCTGCCACGCTGAACCCAACATAA G	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp1 HG02896.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0158 a0001c0006t0001g0218	2	264	0.0076	-50	c.199 others(71): Show c.1998+26936_1998+26985delCTTATGTTGGGTTCAGCGTGGCAG GCGTATGTTGGGTTCAGCGTGGCAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1934781	GAACCCGA others(43): Show GAACCCGAGACAGGCAGACACCCAGACAACAGGGGAACAAACAGATGGGC A	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	264	0.0038	-50	c.180 others(69): Show c.1807+1856_1807+1905delTGCCCATCTGTTTGTTCCCCTGTTGT CTGGGTGTCTGCCTGTCTCGGGTT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	493906	TTGTCTCT others(43): Show TTGTCTCTCTTCCTTGATCTGTCTCTCCCTCTCTGTGTCTCTGTCTCCCT A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0157 a0005c0007t0001g0157	1	364	0.0028	-50	c.-25 others(61): Show c.-2593_-2544delTGTCTCTCTTCCTTGATCTGTCTCTCCCTCTCTG TGTCTCTGTCTCCCTA	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		2579		chr19	TogoVar
MAGEB10_chrX_27802990_27828014	27809487	CCCCCCCG others(43): Show CCCCCCCGCCCCGCCCGCCCCCCCCCCCGCCCGCCCCCCCCCCGCCGCCG G	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	250	0.0040	-50	c.-19 others(69): Show c.-199+1457_-199+1506delCGCCCCGCCCGCCCCCCCCCCCGCCC GCCCCCCCCCCGCCGCCGGCCCCC	MAGEB10	ENSG00000177689.10	transcript	ENST00000356790.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117430070	TGGGTGGG others(43): Show TGGGTGGGGGTGCTGACCCCCCCATCTCCCTCCCGGACGGGGTAGCTGGC C	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0176 a0001c0004t0176	a0001c0004t0176g0228 a0001c0004t0176g0228	1	370	0.0027	-50	c.855 others(67): Show c.855+9425_855+9474delTGGGGGTGCTGACCCCCCCATCTCCCTC CCGGACGGGGTAGCTGGCCGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1B1_chr9_137081985_137114183	137104853	CACCTGCC others(43): Show CACCTGCCTGAGGCTGTGTTTTGGGTGTTGTGAGTGTGGGTGCACACACC T	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	404	0.0025	-50	c.125 others(69): Show c.1255-1271_1255-1222delACCTGCCTGAGGCTGTGTTTTGGGTG TTGTGAGTGTGGGTGCACACACCT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12			chr9	TogoVar
MAP2K3_chr17_21279711_21320232	21295932	GCTGGGGG others(43): Show GCTGGGGGCAAGGTCAAGGCCCAGGGTCTCTGTGCAGAGCTTTAATTTTT A	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	366	0.0027	-50	c.50- others(65): Show c.50-2480_50-2431delCTGGGGGCAAGGTCAAGGCCCAGGGTCTCT GTGCAGAGCTTTAATTTTTA	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	1/11			chr17	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(43): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(100): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0004g0011 a0001c0001t0004g0169 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0195 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0007g0016 a0001c0001t0008g0168 a0001c0001t0008g0175 a0001c0001t0008g0208 a0001c0001t0010g0229 a0001c0001t0010g0234 a0001c0001t0011g0237 a0001c0001t0012g0177 a0001c0001t0012g0200 a0001c0001t0013g0233 a0001c0001t0014g0238 a0001c0001t0016g0216 a0001c0001t0023g0191 a0005c0006t0001g0214	103	328	0.3140	-50	c.-38 others(65): Show c.-38+469_-38+518delCACACACACACACACACACACACACACACA CACACACACACACACACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K13_chr3_185358136_185494094	185453891	GTGATACA others(43): Show GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT A	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG01167.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0008 a0001c0001t0001 a0001c0006t0008	a0001c0001t0001g0117 a0001c0006t0008g0217 a0001c0001t0001g0117 a0001c0006t0008g0217	2	278	0.0072	-50	c.127 others(69): Show c.1278+2523_1278+2572delTGATACATATATATGAGATATATATG ATACATATATATGAGATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455654	TATGATAT others(43): Show TATGATATATATATGATATATATATGAGATATATATATGATATATATATG A	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0208 a0006c0014t0002g0208	1	278	0.0036	-50	c.127 others(69): Show c.1278+4260_1278+4309delATGATATATATATGATATATATATGA GATATATATATGATATATATATGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13			chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19475170	GGAATGAT others(43): Show GGAATGATGGGACACAGTGAGAGATCATCAGGCATGAGTTTCTCATAAGG A	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	163	0.0061	-50	c.526 others(69): Show c.526-10814_526-10765delTCCTTATGAGAAACTCATGCCTGATG ATCTCTCACTGTGTCCCATCATTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP7D2_chrX_20001713_20121907	20094492	ATATATAT others(43): Show ATATATATATATATATATATATATGTATATATATATATATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0009 a0003c0016t0009	a0003c0016t0009g0208 a0003c0016t0009g0208	1	210	0.0048	-50	c.130 others(69): Show c.130+22208_130+22257delCATATATATATATATATATATATATA CATATATATATATATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	164385488	TAAACTAT others(43): Show TAAACTATCAGTGTAATGGATAAAGAAAATAATGGCACATATACACAATG G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0014 a0002c0003t0008g0014	1	102	0.0098	-50	c.-19 others(61): Show c.-1991_-1942delCCATTGTGTATATGTGCCATTATTTTCTTTATCC ATTACACTGATAGTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding		1470		chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(43): Show CTATATAACTATATAACTATATATATATATATATATATATATATATATAT A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp1 NA21309.hp1 NA18977.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0160 a0001c0001t0155 a0001c0001t0160	a0001c0001t0155g0281 a0001c0001t0160g0181 a0001c0001t0155g0281 a0001c0001t0160g0181	2	284	0.0070	-50	c.19 others(61): Show c.1946_*1995delACTATATAACTATATATATATATATATATATATA TATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(43): Show CTATATAACTATATATATATATATATATATATATATATATATATATATAT A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0005 a0001c0001t0035g0006 a0001c0001t0035g0005 a0001c0001t0035g0006	2	284	0.0070	-50	c.19 others(61): Show c.1954_*2003delACTATATATATATATATATATATATATATATATA TATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MBD5_chr2_148016091_148521971	148345490	TATATACA others(43): Show TATATACACATACATATACATATGTATATACACATACATATGTATATACA C	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(70): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp2 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp1 HG06807.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18959.hp2 NA18972.hp1 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0013 a0004c0008 a0005c0006 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0002c0013t0002 a0004c0008t0002 a0005c0006t0001 a0006c0010t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(70): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0165 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0004g0049 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0004g0143 a0001c0001t0005g0030 a0001c0001t0005g0072 a0001c0001t0005g0132 a0001c0001t0006g0177 a0001c0001t0007g0010 a0001c0001t0007g0161 a0001c0001t0007g0187 a0001c0001t0008g0017 a0001c0001t0010g0086 a0001c0001t0011g0114 a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0013g0081 a0001c0001t0014g0018 a0001c0001t0015g0023 a0001c0001t0020g0109 a0001c0001t0022g0113 a0001c0001t0024g0105 a0001c0001t0027g0076 a0001c0001t0028g0138 a0001c0001t0029g0186 a0001c0002t0003g0141 a0001c0003t0001g0075 a0001c0004t0001g0144 a0001c0007t0001g0045 a0002c0013t0002g0025 a0004c0008t0002g0119 a0005c0006t0001g0134 a0006c0010t0002g0004	73	188	0.3883	-50	c.-55 others(69): Show c.-557+3171_-557+3220delACATATGTATATACACATACATATGT ATATACACATATACACATACATAT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(43): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02615.hp2 others(7): Show HG01891.hp2 HG02257.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	10	390	0.0256	-50	c.30 others(61): Show c.3039_*3088delTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2740		chr7	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG02015.hp1 others(12): Show HG00544.hp2 HG00597.hp1 HG02015.hp1 HG02083.hp2 HG02135.hp1 HG03831.hp1 HG04228.hp2 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp1 NA18965.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 others(6): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0049 a0001c0001t0056 a0001c0001t0102 a0001c0001t0126 a0001c0001t0129 a0001c0001t0133	a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0012g0044 others(12): Show a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0012g0044 a0001c0001t0015g0198 a0001c0001t0015g0233 a0001c0001t0015g0245 a0001c0001t0015g0246 a0001c0001t0049g0240 a0001c0001t0049g0249 a0001c0001t0056g0247 a0001c0001t0056g0248 a0001c0001t0102g0230 a0001c0001t0126g0229 a0001c0001t0129g0250 a0001c0001t0133g0226	15	340	0.0441	-50	c.122 others(69): Show c.1225-1730_1225-1681delATATATATATATATATATATATATAT ATATATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84078283	GGACCAGC others(43): Show GGACCAGCAGTGCCACCTTACCTAACAGAGCTACCCGATGCTCTCAACCC A	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG03017.hp1 others(2): Show HG01192.hp1 HG01192.hp2 HG03017.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0010 a0001c0002t0031 a0001c0002t0008 a0001c0002t0010 a0001c0002t0031	a0001c0002t0008g0227 a0001c0002t0008g0229 a0001c0002t0008g0230 others(2): Show a0001c0002t0008g0227 a0001c0002t0008g0229 a0001c0002t0008g0230 a0001c0002t0010g0299 a0001c0002t0031g0232	5	424	0.0118	-50	c.144 others(69): Show c.1448+3414_1448+3463delTGGGTTGAGAGCATCGGGTAGCTCTG TTAGGTAAGGTGGCACTGCTGGTC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding	11/22			chr16	TogoVar
MC1R_chr16_89913862_89925972	89914635	TTGTGTGT others(43): Show TTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTGT G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	396	0.0025	-50	c.-46 others(61): Show c.-4623_-4574delTGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTG GGGGTGCACATTTGTG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4226		chr16	TogoVar
MCM2_chr3_127593411_127627436	127612698	CGTTTGCT others(43): Show CGTTTGCTGGGTGGAGCTCACAGTACCCACTCAGGTGGGCACTCTATCCC T	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	426	0.0024	-50	c.142 others(69): Show c.1429-3151_1429-3102delGAGCTCACAGTACCCACTCAGGTGGG CACTCTATCCCTGTTTGCTGGGTG	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
MCOLN2_chr1_84920583_85002113	84987515	TGTATATA others(43): Show TGTATATATGTATACATCTATGTATACATAGATGTATACATCTATGTATA C	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0016 a0008c0012t0005g0016	1	350	0.0029	-50	c.77+ others(65): Show c.77+9231_77+9280delGTATACATAGATGTATACATCTATGTATAC ATAGATGTATACATATATAC	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MDGA2_chr14_46835092_47680605	47139777	CACACAAA others(43): Show CACACAAATATATATGTGTATATATATGTATATATATACACACATATATA T	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0010g0027 a0001c0001t0010g0028	2	120	0.0167	-50	c.792 others(67): Show c.792+4251_792+4300delATATATATGTGTGTATATATATACATAT ATATACACATATATATTTGTGT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	4/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046299	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	398	0.0025	-50	c.-18 others(61): Show c.-1861_-1812delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1806		chr7	TogoVar
ME1_chr6_83205402_83436051	83263745	CAACATAA others(43): Show CAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA T	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18612.hp2 NA18946.hp2 others(5): Show HG01981.hp1 NA18612.hp2 NA18946.hp2 NA18979.hp1 NA19058.hp1 NA19075.hp2 NA19079.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0011 a0002c0004t0005 a0001c0002t0011 a0002c0004t0005	a0001c0002t0011g0217 a0002c0004t0005g0214 a0002c0004t0005g0220 others(5): Show a0001c0002t0011g0217 a0002c0004t0005g0214 a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0005g0223 a0002c0004t0005g0224 a0002c0004t0005g0226	8	272	0.0294	-50	c.705 others(69): Show c.705-10057_705-10008delATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
MECOM_chr3_169078507_169668712	169191700	AAAAGAAA others(43): Show AAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAAAGAGAAAGAAA G	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02132.hp1 others(7): Show HG02015.hp1 HG02080.hp2 HG02132.hp1 HG02630.hp1 HG03704.hp2 HG03831.hp1 NA18943.hp2 NA18951.hp2 NA18963.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0004t0006 a0002c0002t0006 a0002c0002t0039	a0001c0001t0001g0053 a0001c0001t0004g0063 a0001c0001t0005g0099 others(7): Show a0001c0001t0001g0053 a0001c0001t0004g0063 a0001c0001t0005g0099 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0015g0016 a0001c0001t0021g0150 a0001c0004t0006g0120 a0002c0002t0006g0119 a0002c0002t0039g0093	10	160	0.0625	-50	c.376 others(69): Show c.376-47918_376-47869delCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTTTTTCTTTCTTTCTTTCTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081299	CTCCCTTC others(43): Show CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(85): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19009.hp1 NA19030.hp2 NA19062.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0023 a0001c0040 a0002c0003 a0002c0037 a0003c0006 a0003c0042 a0004c0016 a0004c0041	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(45): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0021 a0001c0005t0001 a0001c0005t0002 a0001c0007t0007 a0001c0009t0012 a0001c0009t0037 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0010t0044 a0001c0012t0002 a0001c0013t0009 a0001c0013t0010 a0001c0013t0050 a0001c0014t0011 a0001c0023t0042 a0001c0040t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0041 a0002c0037t0020 a0003c0006t0003 a0003c0006t0004 a0003c0006t0006 a0003c0006t0015 a0003c0042t0001 a0004c0016t0001 a0004c0016t0016 a0004c0016t0025 a0004c0016t0057 a0004c0041t0039	a0001c0001t0002g0052 a0001c0001t0002g0160 a0001c0001t0002g0200 others(85): Show a0001c0001t0002g0052 a0001c0001t0002g0160 a0001c0001t0002g0200 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0007g0159 a0001c0001t0009g0134 a0001c0001t0036g0059 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0148 a0001c0002t0001g0171 a0001c0002t0002g0066 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0004g0063 a0001c0002t0004g0149 a0001c0002t0013g0050 a0001c0002t0014g0075 a0001c0002t0014g0076 a0001c0002t0016g0051 a0001c0002t0017g0068 a0001c0002t0029g0085 a0001c0002t0030g0090 a0001c0004t0001g0089 a0001c0004t0002g0138 a0001c0004t0002g0143 a0001c0004t0005g0070 a0001c0004t0021g0136 a0001c0004t0021g0137 a0001c0005t0001g0088 a0001c0005t0001g0139 a0001c0005t0002g0077 a0001c0007t0007g0036 a0001c0009t0012g0133 a0001c0009t0012g0135 a0001c0009t0012g0175 a0001c0009t0012g0176 a0001c0009t0037g0174 a0001c0010t0001g0061 a0001c0010t0002g0100 a0001c0010t0005g0060 a0001c0010t0044g0095 a0001c0012t0002g0064 a0001c0013t0009g0104 a0001c0013t0010g0079 a0001c0013t0050g0109 a0001c0014t0011g0105 a0001c0023t0042g0161 a0001c0040t0001g0096 a0002c0003t0002g0056 a0002c0003t0004g0053 a0002c0003t0004g0069 a0002c0003t0004g0071 a0002c0003t0004g0072 a0002c0003t0004g0078 a0002c0003t0004g0086 a0002c0003t0004g0091 a0002c0003t0004g0145 a0002c0003t0004g0199 a0002c0003t0041g0146 a0002c0037t0020g0173 a0003c0006t0003g0102 a0003c0006t0003g0152 a0003c0006t0004g0157 a0003c0006t0006g0153 a0003c0006t0006g0154 a0003c0006t0006g0155 a0003c0006t0006g0156 a0003c0006t0006g0177 a0003c0006t0015g0101 a0003c0006t0015g0151 a0003c0042t0001g0103 a0004c0016t0001g0147 a0004c0016t0016g0080 a0004c0016t0025g0067 a0004c0016t0057g0099 a0004c0041t0039g0144	88	280	0.3143	-50	c.-47 others(61): Show c.-4766_-4717delTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4364		chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(43): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02809.hp2 others(6): Show HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0007 a0001c0013 a0001c0017 others(1): Show a0001c0007 a0001c0013 a0001c0017 a0008c0029	a0001c0007t0007 a0001c0013t0010 a0001c0013t0024 others(4): Show a0001c0007t0007 a0001c0013t0010 a0001c0013t0024 a0001c0017t0007 a0001c0017t0024 a0001c0017t0052 a0008c0029t0034	a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 others(6): Show a0001c0007t0007g0034 a0001c0007t0007g0036 a0001c0007t0007g0128 a0001c0013t0010g0079 a0001c0013t0024g0004 a0001c0017t0007g0202 a0001c0017t0024g0002 a0001c0017t0052g0001 a0008c0029t0034g0261	9	280	0.0321	-50	c.355 others(67): Show c.3550+358_3550+407delTATTTTATTTTATTTTATTTTATTTCAT TTCATTTCATTTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368629	TATTTCAT others(43): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATGT C	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01943.hp1 NA18975.hp1 HG01346.hp2 HG01943.hp1 NA18975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0071 a0002c0003t0004g0073 a0002c0003t0004g0228 a0002c0003t0004g0071 a0002c0003t0004g0073 a0002c0003t0004g0228	3	280	0.0107	-50	c.355 others(67): Show c.3550+388_3550+437delCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATGTCATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED16_chr19_862963_898187	866662	CCCCTCGC others(43): Show CCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGC A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0027 a0006c0009t0007g0027	1	56	0.0179	-50	c.13 others(61): Show c.1389_*1438delTGCAGGCCCGCGGCGGGTGGACGGGGAGGACATG GGAGCGCTGGCGAGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1300		chr19	TogoVar
MED16_chr19_862963_898187	866677	CCCATGTC others(43): Show CCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0048 a0005c0011t0001g0048	1	56	0.0179	-50	c.13 others(61): Show c.1374_*1423delAGCGCTGGCGAGGGGTGCAGGCCCGCGGCGGGTG GACGGGGAGGACATGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1285		chr19	TogoVar
MEIOB_chr16_1828986_1877164	1876385	AGGTGGAG others(43): Show AGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCATTT G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0014 a0002c0006t0001g0014	1	380	0.0026	-50	c.-44 others(61): Show c.-4452_-4403delCAAATGGCTGGAGCGCAGTGGCGCGATCTCGGCT CACTGCAACCTCCACC	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		4222		chr16	TogoVar

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