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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Select column to sort.

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Results per page.

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
LSG1_chr3_194635791_194677191	194645539	CACACACA others(29): Show CACACACACACACACACACACACACACACACAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG04204.hp2 others(1): Show HG02922.hp1 HG03195.hp1 HG04204.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0030	a0002c0002t0002g0342 a0002c0002t0004g0355 a0002c0002t0010g0352 others(1): Show a0002c0002t0002g0342 a0002c0002t0004g0355 a0002c0002t0010g0352 a0002c0002t0030g0234	4	408	0.0098	-36	c.162 others(53): Show c.1623+589_1623+624delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSM8_chr7_118179164_118209035	118206968	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(166): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(42): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0093	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0005g0002 a0001c0001t0005g0015 a0001c0001t0005g0046 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0008g0001 a0001c0001t0008g0055 a0001c0001t0010g0001 a0001c0001t0010g0008 a0001c0001t0010g0010 a0001c0001t0010g0036 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0014g0013 a0001c0001t0019g0002 a0001c0001t0020g0001 a0001c0001t0020g0013 a0001c0001t0020g0052 a0001c0001t0021g0001 a0001c0001t0021g0013 a0001c0001t0027g0001 a0001c0001t0027g0020 a0001c0001t0027g0041 a0001c0001t0030g0026 a0001c0001t0031g0002 a0001c0001t0031g0006 a0001c0001t0033g0002 a0001c0001t0034g0001 a0001c0001t0042g0002 a0001c0001t0045g0006 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0015 a0001c0001t0055g0054 a0001c0001t0057g0002 a0001c0001t0058g0006 a0001c0001t0059g0002 a0001c0001t0060g0016 a0001c0001t0061g0006 a0001c0001t0065g0002 a0001c0001t0066g0002 a0001c0001t0067g0002 a0001c0001t0068g0002 a0001c0001t0069g0020 a0001c0001t0072g0001 a0001c0001t0073g0001 a0001c0001t0074g0001 a0001c0001t0075g0042 a0001c0001t0077g0008 a0001c0001t0078g0008 a0001c0001t0080g0001 a0001c0001t0081g0001 a0001c0001t0082g0001 a0001c0001t0084g0053 a0001c0001t0085g0001 a0001c0001t0086g0001 a0001c0001t0093g0008	169	414	0.4082	-36	c.14 others(49): Show c.14967_*15002delTATATATATATATATATATATATATATATATA TATA	LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding		2934		chr7	TogoVar
LTB4R_chr14_24306502_24323036	24321386	ATGCACTC others(29): Show ATGCACTCCAGCCTGAGCGACGAGAGTGAAACTCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	428	0.0023	-36	c.46 others(47): Show c.4677_*4712delTGCACTCCAGCCTGAGCGACGAGAGTGAAACTCT GT	LTB4R	ENSG00000213903.9	transcript	ENST00000345363.8	protein_coding		3351		chr14	TogoVar
LTBP4_chr19_40596369_40634818	40625252	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19011.hp1 NA18994.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0147 a0001c0001t0001g0170	2	338	0.0059	-36	c.383 others(53): Show c.3833-575_3833-540delATATATATATATATATATATATATATAT ATATATAT	LTBP4	ENSG00000090006.18	transcript	ENST00000396819.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
LUC7L2_chr7_139354894_139428454	139416040	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(155): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0004	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(142): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0001t0002g0261 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0081 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0006g0091 a0001c0001t0008g0043 a0001c0001t0009g0143 a0001c0002t0004g0009 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111	158	276	0.5725	-36	c.810 others(53): Show c.810-1483_810-1448delATATATATATATATATATATATATATAT ATATATAT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUM_chr12_91097629_91116494	91107202	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAGAGAAAGAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG02965.hp1 HG02258.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0083 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0002g0083 a0001c0001t0007g0081 a0001c0001t0007g0082	3	384	0.0078	-36	c.862 others(51): Show c.862+880_862+915delCTTTCTTTCTTTCTTCTTTCTCTCTTTCTT TCTTTC	LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2			chr12	TogoVar
LUM_chr12_91097629_91116494	91107279	GAAAGAAA others(29): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	384	0.0026	-36	c.862 others(51): Show c.862+803_862+838delTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTT	LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2			chr12	TogoVar
LUM_chr12_91097629_91116494	91107313	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18941.hp2 NA18947.hp1 others(7): Show HG00609.hp2 NA18941.hp2 NA18947.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18984.hp1 NA18988.hp1 NA19006.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0067 others(2): Show a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069	10	384	0.0260	-36	c.862 others(51): Show c.862+769_862+804delTTCCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	LUM	ENSG00000139329.5	transcript	ENST00000266718.5	protein_coding	2/2			chr12	TogoVar
LUZP2_chr11_24492053_25087638	24574211	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG01891.hp1 others(11): Show HG01109.hp1 HG01261.hp2 HG01891.hp1 HG01975.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG04204.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0007 others(1): Show a0001c0001 a0001c0003 a0002c0007 a0005c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0038 a0001c0003t0012 a0002c0007t0028 a0005c0006t0029	a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0041 others(11): Show a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0006g0115 a0001c0001t0011g0054 a0001c0001t0014g0002 a0001c0001t0016g0088 a0001c0001t0038g0090 a0001c0003t0012g0052 a0002c0007t0028g0068 a0005c0006t0029g0058	14	116	0.1207	-36	c.62+ others(53): Show c.62+76922_62+76957delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24574227	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00621.hp2 others(49): Show HG00423.hp2 HG00621.hp1 HG00621.hp2 HG01071.hp2 HG01109.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02683.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18981.hp1 NA18981.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0003t0004 a0001c0003t0015 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0022 a0002c0002t0027 a0004c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 others(49): Show a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0002g0113 a0001c0001t0003g0032 a0001c0001t0004g0060 a0001c0001t0004g0075 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0007g0007 a0001c0001t0007g0012 a0001c0001t0007g0103 a0001c0001t0010g0038 a0001c0001t0010g0080 a0001c0001t0011g0082 a0001c0001t0013g0039 a0001c0001t0016g0033 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0020g0097 a0001c0001t0030g0108 a0001c0001t0031g0109 a0001c0001t0033g0112 a0001c0001t0034g0053 a0001c0001t0039g0034 a0001c0003t0004g0004 a0001c0003t0004g0050 a0001c0003t0004g0055 a0001c0003t0015g0091 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0045 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0008g0104 a0002c0002t0009g0005 a0002c0002t0009g0043 a0002c0002t0022g0017 a0002c0002t0027g0100 a0004c0005t0002g0087	52	116	0.4483	-36	c.62+ others(53): Show c.62+76948_62+76983delTTTCTTTCTTGCTTTCTTTCTTTCTTTC TTTCTTTC	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY96_chr8_73986392_74034079	73996368	CATTCCTT others(29): Show CATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02451.hp2 HG02630.hp1 others(4): Show HG00423.hp2 HG02451.hp2 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0002g0027	7	314	0.0223	-36	c.112 others(53): Show c.112+4815_112+4850delATTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4			chr8	TogoVar
LY96_chr8_73986392_74034079	73996372	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp2 HG02074.hp1 others(10): Show HG00642.hp1 HG01934.hp2 HG02074.hp1 HG02257.hp2 HG03471.hp1 HG03927.hp1 NA18946.hp2 NA18949.hp1 NA18967.hp1 NA18970.hp1 NA18983.hp1 NA18995.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073	13	314	0.0414	-36	c.112 others(53): Show c.112+4851_112+4886delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	74001988	CTCCCTCC others(29): Show CTCCCTCCTTTCTTCCTTTCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01433.hp1 others(1): Show HG00099.hp1 HG00639.hp1 HG01433.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0300	4	314	0.0127	-36	c.113 others(53): Show c.113-2804_113-2769delCTCCTTTCTTCCTTTCTTCCTTCCTTCC TTCCTTCC	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
LY96_chr8_73986392_74034079	74002006	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	314	0.0032	-36	c.113 others(53): Show c.113-2754_113-2719delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD6B_chr2_149033699_149220262	149213312	GAGACTCC others(29): Show GAGACTCCATACAAAGATAAAATGGAGACCAAAGAAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	264	0.0038	-36	c.459 others(51): Show c.459+230_459+265delCTCCATACAAAGATAAAATGGAGACCAAAG AACAGA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD8_chr1_248734415_248760759	248742914	GCGGGGGA others(29): Show GCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	374	0.0027	-36	c.475 others(53): Show c.475+2192_475+2227delGCTGCCAACATCCCCACCAGAGCATAAT CTCCCCCG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742999	CGCTCTGG others(29): Show CGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGTTAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	374	0.0027	-36	c.475 others(53): Show c.475+2107_475+2142delATAACCTCCCCCGGCTGCCAACATCCCC ACCAGAGC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248752545	AAACACAA others(29): Show AAACACAAACACACCACATCATGAACACACACATCAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	374	0.0027	-36	c.-49 others(53): Show c.-49-1451_-49-1416delGTGATGTGTGTGTTCATGATGTGGTGTG TTTGTGTT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPLA2_chr1_23786145_23800539	23797903	TGCCTCAC others(29): Show TGCCTCACACATTACTCCCACCCTGTTACTCCTCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-36	c.31 others(47): Show c.3172_*3207delGCCTCACACATTACTCCCACCCTGTTACTCCTCC AC	LYPLA2	ENSG00000011009.11	transcript	ENST00000374514.8	protein_coding		2365		chr1	TogoVar
LYZL2_chr10_30606779_30634753	30611566	GGAAGGAA others(29): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG02622.hp1 others(1): Show HG00642.hp2 HG01106.hp2 HG02622.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0082 a0001c0001t0001g0129 a0002c0003t0001g0056 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0129 a0002c0003t0001g0056 a0002c0003t0001g0137	4	456	0.0088	-36	c.35 others(45): Show c.353_*388delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC	LYZL2	ENSG00000151033.10	transcript	ENST00000647634.2	protein_coding		212		chr10	TogoVar
LZTS1_chr8_20241165_20308963	20251114	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	406	0.0025	-36	c.115 others(53): Show c.1150-787_1150-752delTTATATATATATATATATATATATATAT ATATATAT	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	3/3			chr8	TogoVar
MAB21L1_chr13_35468789_35481689	35476296	CCTGCTGC others(29): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01981.hp2 HG04228.hp1 HG01981.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0000 a0001c0001t0033g0000	2	466	0.0043	-36	c.-19 others(45): Show c.-194_-159delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	MAB21L1	ENSG00000180660.9	transcript	ENST00000379919.6	protein_coding	1/1	159		chr13	TogoVar
MACIR_chr5_103253763_103283660	103261638	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	360	0.0028	-36	c.-11 others(55): Show c.-114+2773_-114+2808delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261669	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0219	1	360	0.0028	-36	c.-11 others(55): Show c.-114+2798_-114+2833delCTTTCTTTCTTCCTTTCTTTCTTTCT TTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	15777494	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0020 a0001c0001t0012g0020	1	24	0.0417	-36	c.646 others(55): Show c.646-85235_646-85200delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15777542	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01081.hp2 others(1): Show HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01168.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0009 a0001c0001t0013 a0002c0002t0002 others(1): Show a0001c0001t0009 a0001c0001t0013 a0002c0002t0002 a0003c0003t0006	a0001c0001t0009g0005 a0001c0001t0013g0006 a0002c0002t0002g0022 others(1): Show a0001c0001t0009g0005 a0001c0001t0013g0006 a0002c0002t0002g0022 a0003c0003t0006g0019	4	24	0.1667	-36	c.646 others(55): Show c.646-85178_646-85143delTTCCTTCCTTCTTTCCTTCCTTCCTT CCTTCCTTCC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1859910	TGTGACAT others(29): Show TGTGACATCCTGCGGGGCGGCCTCTGTCTCCCTAGAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01243.hp2 others(30): Show HG00639.hp2 HG01099.hp1 HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0003c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0007 a0001c0013t0001 a0003c0014t0001	a0001c0001t0001g0077 a0001c0001t0001g0145 a0001c0001t0001g0151 others(30): Show a0001c0001t0001g0077 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0007g0144 a0001c0001t0009g0247 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0007g0135 a0001c0013t0001g0076 a0003c0014t0001g0067	33	264	0.1250	-36	c.199 others(57): Show c.1998+38254_1998+38289delGTCTAGGGAGACAGAGGCCGCCCC GCAGGATGTCAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1859922	CGGGGCGG others(29): Show CGGGGCGGCCTCTGTCTCCCTAGACGTGACATCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0262 a0001c0001t0006g0263	2	264	0.0076	-36	c.199 others(57): Show c.1998+38242_1998+38277delACAGGATGTCACGTCTAGGGAGAC AGAGGCCGCCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1860341	GTGACATC others(29): Show GTGACATCCTGCGGGGCGGCCTCTGTGTCCCTAGACT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(86): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18612.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.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001 a0004c0008t0001	a0001c0001t0001g0090 a0001c0001t0001g0161 a0001c0001t0001g0164 others(86): Show a0001c0001t0001g0090 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0005g0137 a0001c0001t0005g0222 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0004t0001g0205 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0007t0004g0078 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0089 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0203 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044 a0004c0008t0001g0194	89	264	0.3371	-36	c.199 others(57): Show c.1998+37823_1998+37858delAGTCTAGGGACACAGAGGCCGCCC CGCAGGATGTCA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1887528	TCTGCATG others(29): Show TCTGCATGTGGCTGCCTGTGCATGTGTGCAAGCATGC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	264	0.0038	-36	c.199 others(57): Show c.1998+10636_1998+10671delGCATGCTTGCACACATGCACAGGC AGCCACATGCAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1947562	CGGCCTTC others(29): Show CGGCCTTCCCATCTCCTGCCCGTGGCCTTGCCTGCTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	264	0.0038	-36	c.159 others(57): Show c.1596+10031_1596+10066delAAGCAGGCAAGGCCACGGGCAGGA GATGGGAAGGCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058128	GGGGCTGG others(29): Show GGGGCTGGAGAGGGAGTGTGGCTAGAGGAGAGAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp1 others(17): Show HG00140.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01975.hp2 HG02055.hp1 HG02300.hp1 HG02523.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0251 others(17): Show a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0005g0222 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0180 a0001c0006t0001g0237 a0002c0005t0001g0213	20	264	0.0758	-36	c.121 others(57): Show c.1218+11030_1218+11065delTGCTTCTCTCCTCTAGCCACACTC CCTCTCCAGCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2058451	GAGGCTGG others(29): Show GAGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGAAGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	-36	c.121 others(57): Show c.1218+10707_1218+10742delTGCTTCTCTCCTCTGGCCACACTC CCTCTCCAGCCT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	492130	GCCCCGCC others(29): Show GCCCCGCCTCTCCTCTGGGCGGAGCCAGCCCCAAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0001 a0005c0011t0001g0001	1	364	0.0028	-36	c.-43 others(47): Show c.-4369_-4334delCCCCGCCTCTCCTCTGGGCGGAGCCAGCCCCAAG CC	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		4355		chr19	TogoVar
MAGI1_chr3_65348526_66043918	65897561	ACCTATGT others(29): Show ACCTATGTAACAAACCTGCATGTTGTGCACATGTACC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20752.hp1 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	104	0.0192	-36	c.313 others(57): Show c.313+140399_313+140434delGGTACATGTGCACAACATGCAGGT TTGTTACATAGG	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65950959	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp2 NA19030.hp2 HG02559.hp2 NA18906.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0007 a0003c0003t0002 a0001c0001t0001 a0002c0002t0007 a0003c0003t0002	a0001c0001t0001g0056 a0002c0002t0007g0066 a0003c0003t0002g0020 a0001c0001t0001g0056 a0002c0002t0007g0066 a0003c0003t0002g0020	3	104	0.0289	-36	c.313 others(55): Show c.313+87001_313+87036delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	79391528	TATATATA others(29): Show TATATATATAGACATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG03130.hp2 others(5): Show HG02451.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0003t0002 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0006 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0002t0005g0003 a0001c0003t0002g0012 a0001c0003t0004g0002 a0001c0005t0001g0005	8	40	0.2000	-36	c.301 others(55): Show c.301+61456_301+61491delGTATATATATATATATATATATATGT CTATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAK_chr6_10757723_10843539	10813084	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	272	0.0037	-36	c.358 others(51): Show c.358+524_358+559delTATATATATATATATATATATATATATATA TATAAA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813114	ATATATAT others(29): Show ATATATATATATATATATATAAATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	272	0.0037	-36	c.358 others(51): Show c.358+494_358+529delAAAAAAAAAAAAAATTTATATATATATATA TATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813116	ATATATAT others(29): Show ATATATATATATATATATAAATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	272	0.0037	-36	c.358 others(51): Show c.358+492_358+527delAAAAAAAAAAAAAAAATTTATATATATATA TATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MALL_chr2_110078870_110120822	110090241	CTGAAATA others(29): Show CTGAAATATTAAATGAAAAATTCCAGAAATTAACAAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	335	0.0030	-36	c.273 others(53): Show c.273+1326_273+1361delATTGTTAATTTCTGGAATTTTTCATTTA ATATTTCA	MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	2/3			chr2	TogoVar
MALRD1_chr10_19043801_19739478	19125282	TTTCTTTC others(29): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0079 a0079	a0079c0088 a0079c0088	a0079c0088t0001 a0079c0088t0001	a0079c0088t0001g0013 a0079c0088t0001g0013	1	152	0.0066	-36	c.943 others(51): Show c.943+616_943+651delTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	7/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML2_chr11_95971598_96348195	96148659	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0226 a0001c0002t0021g0226	1	230	0.0044	-36	c.514 others(55): Show c.514-55178_514-55143delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	226	0.0044	-36	c.204 others(55): Show c.2040+8197_2040+8232delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A1_chr6_119172205_119354761	119351641	CCTAAAAA others(29): Show CCTAAAAACTTTAAATTTATCTATGTTGTTTCTACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	350	0.0029	-36	c.-23 others(47): Show c.-2358_-2323delATGTAGAAACAACATAGATAAATTTAAAGTTTTT AG	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding		1881		chr6	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	TCACCATC others(29): Show TCACCATCACCACTACCACCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0055 a0002c0002 a0001c0055 a0002c0002	a0001c0055t0002 a0002c0002t0009 a0001c0055t0002 a0002c0002t0009	a0001c0055t0002g0122 a0002c0002t0009g0037 a0001c0055t0002g0122 a0002c0002t0009g0037	2	362	0.0055	-36	c.391 others(51): Show c.391+625_391+660delCTACCACCACCACCACCATCACCACCACCA TCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	TCACCACC others(29): Show TCACCACCACCATCACCACCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0196 a0002c0004t0003g0196	1	362	0.0028	-36	c.391 others(51): Show c.391+803_391+838delTCACCACCACCACCACCATCACCACCACCA CCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560188	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18997.hp2 NA18943.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0399 a0001c0001t0006g0094 a0001c0001t0003g0399 a0001c0001t0006g0094	2	446	0.0045	-36	c.-10 others(53): Show c.-102+773_-102+808delATATATATATATATATATATATATATAT ATATATAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP2K5_chr15_67537703_67812114	67802243	GGAGGGAG others(29): Show GGAGGGAGCGGTGAGCAACCACAATTCATCTTCATGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02809.hp1 others(2): Show HG02145.hp2 HG02572.hp2 HG02809.hp1 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0217	5	278	0.0180	-36	c.124 others(55): Show c.1243-4366_1243-4331delGAGGGAGCGGTGAGCAACCACAATTC ATCTTCATGA	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02615.hp2 HG02735.hp2 others(4): Show HG00738.hp1 HG02615.hp2 HG02735.hp2 HG03471.hp2 NA18965.hp1 NA18984.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0119 a0001c0001t0003g0120	7	328	0.0213	-36	c.-38 others(51): Show c.-38+483_-38+518delCACACACACACACACACACACACACACACA CACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar

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