Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TUBGCP2_chr10_133273635_133313872	133292114	ATGTCCCC others(163): Show ATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCC CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTC CGTGTCCCCCGTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	1	284	0.0035	-170	c.121 others(17): Show c.1214+215_1214+384del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TXK_chr4_48061393_48139250	48104371	ATAATATA others(163): Show ATAATATATAATATTATATATAATATATATAATATATAATATTATATATA ATATATATAATATATAATATTATATATAATATATATAATATATAATATTA TATATTATATATATAATATATAATATTATATATTATATATATAATATATA ATATTATATATTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	362	0.0028	-170	c.501 others(15): Show c.501+360_501+529del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466593	GAGGAGGT others(163): Show GAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	-170	c.21 others(9): Show c.211_*380del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		84		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604810	ATTTACAA others(163): Show ATTTACAAAGAAATTGCTACTTGTGTAATGGTGAACTAAGACAGCAAAAC TCAAGGTATGTACCTCAGATGTTATTCATCGAAAAAAACAAGGGTGACCC TGGGGTCAAATAAATTTGGAAACCGTGAGATTGAACAACTTTTACAGGAG TTTAACTACAGGCCTTTCTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02723.hp2 others(6): Show HG01884.hp2 HG01891.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 others(6): Show a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 a0001c0001t0008g0117 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0015g0092 a0001c0001t0015g0115 a0001c0001t0022g0114	9	388	0.0232	-170	c.83- others(15): Show c.83-2958_83-2789del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS13B_chr8_99008274_99882580	99849917	ATACATAA others(163): Show ATACATAAGTACGCATGTATGTACTTATACATACCTACATAAGTACGCAT GTATGTACTTATACATACCTACATAAGTACGCATGTATGTACTTATACAT ACCTACATAAGTACGCATGTATGTACTTATACATACCTACATAAGTACGC ATGTATGTACTTATACATACC	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0034 a0002c0003t0003g0034	1	134	0.0075	-170	c.100 others(21): Show c.10061+1193_10061+1362del	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF365_chr10_62369369_62407450	62369791	TATATATA others(163): Show TATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATAT ATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCCAT ATATATATATATCTCATATATATGTCCCATATATATATATCTCATATATA TGTCCCATATATATATATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02895.hp1 HG01433.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	2	350	0.0057	-170	c.-46 others(11): Show c.-4680_-4511del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF532_chr18_58859877_58991480	58888729	TATATATA others(163): Show TATATATATATATTTTATATATATATAAAATTAATATATATAATTTATAT ATATATAAAATATATATAATTTATATATATAAAAAATTATATATATAAAT TATATATATAATTTATATATATATAATTTATATATATATAATATATATTA TATATATATATTTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0209 a0001c0001t0003g0197 a0001c0001t0003g0209	2	354	0.0057	-170	c.-18 others(19): Show c.-18+23151_-18+23320del	ZNF532	ENSG00000074657.14	transcript	ENST00000591808.6	protein_coding	2/9			chr18	TogoVar
BCL2L13_chr22_17633757_17735855	17684726	GCTAATTT others(162): Show GCTAATTTTTTGTATTTTTTTTTTTTTTGACAGAGTCTGGCTCTTTGCCC AGGCTGGAGTGCGGTGGCGGGATCTTGGCTCACTGCAAGCTCCGCCTCCT GGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCTGCCACCACACCCGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0089 a0003c0004t0016g0089	1	306	0.0033	-169	c.229 others(17): Show c.229+1424_229+1592del	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
CBR3_chr21_36130079_36151562	36144348	CTTGGGAG others(162): Show CTTGGGAGGCTGAAGCAGTAGAATCACTTGATCCTGGGAGGCGGAGGTTG CAGTGAGCCGAGATTGTGCCACTGCACTGCAGCCTAGGCAACAAAACAAG ACTGTCTCACAAAACAAAATAAAAAATTTTTAGGCCGGGTGTAGTGGCTC ACGCCTGTAATTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02486.hp1 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0280 a0003c0003t0001g0262 a0003c0003t0001g0280	2	424	0.0047	-169	c.398 others(17): Show c.398-1625_398-1457del	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CDH12_chr5_21745673_22858344	22314950	TTTTTTTT others(162): Show TTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAGG CTGGAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGG TTCATGCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGCC TGCCACCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0009 a0001c0002t0011g0009	1	60	0.0167	-169	c.-33 others(21): Show c.-333+90138_-333+90306del	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14			chr5	TogoVar
CNTRL_chr9_121069955_121182610	121092573	ATATATAT others(162): Show ATATATATAATATATATCTATATATATAATATATATCTATATATATTATA TATATCTATATATATAATATATATCTATATATAATATATATCTATATATA TAATATATATCTATATATATAATATATATCTATATATATAATATATATCT ATATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(87): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0012 a0014 a0016	a0001c0001 a0002c0002 a0002c0023 others(6): Show a0001c0001 a0002c0002 a0002c0023 a0003c0004 a0005c0008 a0006c0010 a0012c0025 a0014c0022 a0016c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0023t0001 a0003c0004t0001 a0005c0008t0001 a0006c0010t0001 a0012c0025t0001 a0014c0022t0001 a0016c0020t0001	a0001c0001t0001g0213 a0002c0002t0001g0001 a0002c0002t0001g0005 others(83): Show a0001c0001t0001g0213 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0022 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0121 a0002c0002t0001g0306 a0002c0002t0002g0114 a0002c0002t0004g0001 a0002c0023t0001g0092 a0003c0004t0001g0140 a0005c0008t0001g0062 a0005c0008t0001g0073 a0005c0008t0001g0076 a0005c0008t0001g0077 a0005c0008t0001g0094 a0006c0010t0001g0052 a0006c0010t0001g0090 a0006c0010t0001g0091 a0012c0025t0001g0111 a0014c0022t0001g0039 a0016c0020t0001g0115	90	330	0.2727	-169	c.348 others(17): Show c.348+2195_349-2120del	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD4_chr15_75331063_75345273	75336345	GGCCCCTG others(162): Show GGCCCCTGCCTCCCGGGGCAGGAACTAGGGCTTGTCTGGAGCTGGGAGTC CTTTCAGGTCTTCCCCATCCCCAAGAGGACCTCCCAAGGATACCCCCTTC CCCAGCCCTGCCGTGGGGCTTGTACAAGAAGGTGCTTAGAATCAGGCTCA CTCTTCCACACTGTTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	430	0.0023	-169	c.3+2 others(11): Show c.3+260_3+428del	COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2973812	AATGGTGG others(162): Show AATGGTGGTAGAGGATGATGGTAGAGGATGATGGTAGAGGATGATGGTAG AGGATGGTGGTAGAGGATGATGGTAGAGGATGATGGTAGAGGATGGTGGT AGAGGATGGTGGTAGAGGATGGTGGTAGAGGATGATGGTAGAGGATGATG GTAGAGGATGGTGGTAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02922.hp2 others(3): Show HG01123.hp1 HG02258.hp2 HG02922.hp2 HG03130.hp2 NA19030.hp2 NA20129.hp1	a0001 a0008 a0012 others(3): Show a0001 a0008 a0012 a0014 a0018 a0031	a0001c0115 a0008c0008 a0012c0104 others(3): Show a0001c0115 a0008c0008 a0012c0104 a0014c0010 a0018c0044 a0031c0069	a0001c0115t0042 a0008c0008t0082 a0012c0104t0071 others(3): Show a0001c0115t0042 a0008c0008t0082 a0012c0104t0071 a0014c0010t0070 a0018c0044t0064 a0031c0069t0043	a0001c0115t0042g0055 a0008c0008t0082g0126 a0012c0104t0071g0058 others(3): Show a0001c0115t0042g0055 a0008c0008t0082g0126 a0012c0104t0071g0058 a0014c0010t0070g0084 a0018c0044t0064g0085 a0031c0069t0043g0100	6	126	0.0476	-169	c.874 others(17): Show c.8740+470_8741-514del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69			chr8	TogoVar
DGKB_chr7_14140049_14907751	14212048	ATTTACTC others(162): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	148	0.0068	-169	c.212 others(21): Show c.2123-34066_2123-33898del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50549447	GTGAACCT others(162): Show GTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGACCGCGCCACTGCAC TCCAGCTGGGTGACAGAGCAAGACTCTTGTCTCAAAAAAAATAATAATAA AAATTAGCCAGGTGTGGTGGCGTGTGCCTATAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAAAATCACT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0062 a0001c0003t0002g0045 a0001c0003t0002g0062	2	284	0.0070	-169	c.100 others(19): Show c.100+44221_100+44389del	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNMT3A_chr2_25222874_25346925	25261438	CAAAAAAA others(162): Show CAAAAAAAAAAAAAAAAAAAAAAGCCAGAGGTGGGGGCGGACACCTATAA TCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGG CGGAGGTTGAAGTGAGCCGAGATCACACCTCTGCACTCCAGCCTGGGTGA CAGAGTGAGACTCCGTCTCA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19070.hp1 NA18942.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0133 a0001c0001t0015g0132 a0001c0001t0007g0133 a0001c0001t0015g0132	2	294	0.0068	-169	c.639 others(19): Show c.639+13334_640-13187del	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	6/22			chr2	TogoVar
DOK7_chr4_3458306_3499482	3490161	TCATTCAT others(162): Show TCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTC ATTCCTGTCTTCACCCCCTCATTCATTCCTTCCTTTTCTCCCTGCTCATT CATTCCTTCCTTCCCCACCTTGCTCATTCATTTCTTCCTCCGCCCCCCCG GCTCATTCTTGCCTTACCTC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0327 a0003c0003t0004g0327	1	404	0.0025	-169	c.772 others(15): Show c.772+374_772+542del	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHMT1_chr9_137614005_137841127	137780107	CGCTGGGA others(162): Show CGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGCTGAGA TGTGTGGTGATGACGGCATCACTGAGATGTGTGGTGATGACGCTGAGATG TGTGGTGATGACGCTGAGATGTGATGACGCTGGGATGTGTGGTGATGACG CTGGGATGTGTGGTGATGAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0150 a0001c0008t0001g0150	1	170	0.0059	-169	c.227 others(17): Show c.2275+434_2275+602del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3A_chr10_119028670_119085817	119082470	AAAAAAAA others(162): Show AAAAAAAAAAAAATTAGCCGGGCGCTGTGGTGGGCGCCTGTAATCCCAGC TACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAAGT TGCAGTGAGCCAAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGG AGACTCCGTCTCAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	350	0.0029	-169	c.-19 others(11): Show c.-1963_-1795del	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding		1654		chr10	TogoVar
EXOC4_chr7_133248078_134070761	133857156	ATATATAT others(162): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTA CCTCTACTTAACCTCCCTGGATGATTGTCTTAGTGTCACATATATATATA TATATATATATATATATACACGTATATATATATATATATATACACGTATA TATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	102	0.0098	-169	c.173 others(21): Show c.1735-38401_1735-38233del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLVCR1_chr1_212853275_212904363	212865884	GGACTCAC others(162): Show GGACTCACTGCAATCTCTGCCTCCTGGGTTCAAGCAGTTCTCGTGCCTCA GCCTCCCTCCCTGGGATTACAGGCATTTGGCTAATTTTTGGGGTTTGGTT TTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAGCCAGGCTG GAGTGCAGTGGCGCAATTTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(150): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0006 a0002c0007 others(3): Show a0002c0002 a0002c0006 a0002c0007 a0003c0003 a0004c0004 a0005c0005	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(49): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0013 a0002c0002t0020 a0002c0002t0032 a0002c0002t0040 a0002c0002t0041 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0117 a0002c0002t0118 a0002c0006t0001 a0002c0007t0004 a0003c0003t0028 a0003c0003t0029 a0003c0003t0030 a0003c0003t0031 a0003c0003t0045 a0003c0003t0046 a0003c0003t0047 a0003c0003t0049 a0003c0003t0088 a0003c0003t0102 a0003c0003t0103 a0003c0003t0104 a0003c0003t0105 a0003c0003t0106 a0003c0003t0107 a0003c0003t0108 a0003c0003t0109 a0003c0003t0110 a0003c0003t0111 a0003c0003t0112 a0003c0003t0113 a0003c0003t0114 a0003c0003t0115 a0003c0003t0116 a0004c0004t0050 a0005c0005t0042 a0005c0005t0098	a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 others(141): Show a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0014 a0002c0002t0003g0050 a0002c0002t0003g0053 a0002c0002t0003g0068 a0002c0002t0003g0075 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0106 a0002c0002t0003g0111 a0002c0002t0003g0116 a0002c0002t0003g0131 a0002c0002t0003g0143 a0002c0002t0004g0004 a0002c0002t0004g0015 a0002c0002t0004g0040 a0002c0002t0004g0043 a0002c0002t0004g0054 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0004g0061 a0002c0002t0004g0066 a0002c0002t0004g0067 a0002c0002t0004g0071 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0110 a0002c0002t0004g0114 a0002c0002t0007g0004 a0002c0002t0007g0015 a0002c0002t0007g0042 a0002c0002t0007g0073 a0002c0002t0007g0080 a0002c0002t0007g0091 a0002c0002t0007g0092 a0002c0002t0007g0108 a0002c0002t0007g0113 a0002c0002t0007g0117 a0002c0002t0013g0009 a0002c0002t0013g0074 a0002c0002t0013g0093 a0002c0002t0013g0118 a0002c0002t0013g0132 a0002c0002t0013g0151 a0002c0002t0020g0069 a0002c0002t0032g0127 a0002c0002t0032g0138 a0002c0002t0032g0139 a0002c0002t0040g0046 a0002c0002t0040g0051 a0002c0002t0041g0006 a0002c0002t0041g0044 a0002c0002t0085g0087 a0002c0002t0086g0062 a0002c0002t0087g0039 a0002c0002t0089g0101 a0002c0002t0090g0008 a0002c0002t0091g0137 a0002c0002t0092g0100 a0002c0002t0093g0083 a0002c0002t0094g0152 a0002c0002t0095g0065 a0002c0002t0096g0084 a0002c0002t0097g0052 a0002c0002t0117g0126 a0002c0002t0118g0107 a0002c0006t0001g0048 a0002c0007t0004g0055 a0003c0003t0028g0029 a0003c0003t0028g0031 a0003c0003t0028g0128 a0003c0003t0029g0123 a0003c0003t0029g0124 a0003c0003t0029g0125 a0003c0003t0030g0035 a0003c0003t0030g0129 a0003c0003t0030g0130 a0003c0003t0031g0017 a0003c0003t0031g0135 a0003c0003t0045g0016 a0003c0003t0046g0027 a0003c0003t0046g0122 a0003c0003t0047g0028 a0003c0003t0047g0036 a0003c0003t0049g0121 a0003c0003t0088g0038 a0003c0003t0102g0147 a0003c0003t0103g0134 a0003c0003t0104g0120 a0003c0003t0105g0150 a0003c0003t0106g0148 a0003c0003t0107g0032 a0003c0003t0108g0140 a0003c0003t0109g0037 a0003c0003t0110g0033 a0003c0003t0111g0142 a0003c0003t0112g0145 a0003c0003t0113g0149 a0003c0003t0114g0136 a0003c0003t0115g0141 a0003c0003t0116g0133 a0004c0004t0050g0045 a0005c0005t0042g0060 a0005c0005t0042g0088 a0005c0005t0098g0059	153	368	0.4158	-169	c.883 others(17): Show c.883+2028_883+2196del	FLVCR1	ENSG00000162769.13	transcript	ENST00000366971.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT10_chr5_154185733_154425984	154425815	CATGGTGA others(162): Show CATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGG TGGCGGGCACCTGTACTCCCAGCTACTTGGGATGCTGAGGCAGGAGAATC ACTTGGACCTGGGAGGTGGAGGTTGCGGTGAGCCAAGATCATGCCACTGC ACTCCAGTCTGGGCAACAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00735.hp1 others(47): Show HG00438.hp2 HG00558.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18952.hp1 NA18964.hp1 NA18969.hp2 NA18986.hp2 NA19005.hp1 NA19030.hp1 NA19074.hp1 NA19079.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0012	a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 others(16): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0001t0044 a0001c0002t0004 a0001c0002t0006 a0001c0002t0019 a0001c0002t0036 a0001c0004t0035 a0001c0004t0038 a0001c0005t0006 a0001c0005t0021 a0001c0008t0031 a0001c0008t0040 a0001c0012t0004	a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0056 others(47): Show a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0222 a0001c0001t0004g0226 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0006g0074 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0110 a0001c0001t0006g0116 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0015g0135 a0001c0001t0015g0139 a0001c0001t0015g0142 a0001c0001t0015g0172 a0001c0001t0016g0216 a0001c0001t0016g0217 a0001c0001t0016g0218 a0001c0001t0017g0145 a0001c0001t0017g0224 a0001c0001t0021g0131 a0001c0001t0028g0228 a0001c0001t0044g0091 a0001c0002t0004g0027 a0001c0002t0004g0030 a0001c0002t0004g0065 a0001c0002t0004g0215 a0001c0002t0004g0219 a0001c0002t0006g0101 a0001c0002t0006g0127 a0001c0002t0019g0002 a0001c0002t0019g0003 a0001c0002t0036g0153 a0001c0004t0035g0073 a0001c0004t0038g0063 a0001c0005t0006g0112 a0001c0005t0021g0022 a0001c0008t0031g0191 a0001c0008t0040g0212 a0001c0012t0004g0017	50	236	0.2119	-169	c.88 others(11): Show c.8844_*9012del	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding		4832		chr5	TogoVar
HMCN1_chr1_185729391_186195949	186005134	TAATTGTT others(162): Show TAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTT TATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAAT TGTTTATAAACGTTTATAAACAAATTTTTAATTGTTTATAAATGTTTATA AACAAATTTTTAATTGTTTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03017.hp1 NA18960.hp1 HG02615.hp2 HG03017.hp1 NA18960.hp1	a0001 a0043 a0001 a0043	a0001c0001 a0043c0025 a0001c0001 a0043c0025	a0001c0001t0001 a0001c0001t0002 a0043c0025t0001 a0001c0001t0001 a0001c0001t0002 a0043c0025t0001	a0001c0001t0001g0052 a0001c0001t0002g0004 a0043c0025t0001g0007 a0001c0001t0001g0052 a0001c0001t0002g0004 a0043c0025t0001g0007	3	92	0.0326	-169	c.447 others(19): Show c.4475+1381_4475+1549del	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HYLS1_chr11_125882668_125905646	125887822	CACTGCGG others(162): Show CACTGCGGCGGGAGCCCTCGCTCCTTTTCCCACCGTCGGGACGGTGCAGA GTGGCAGCTTCCCTCCGTGGATTCCAGGTCCTGCCTGGCGAGCCGTCCCC AACGTCTGCGTTCCTGAGGGAGGCGGCCGGGGCAGCGTGAGCTACAGGCG ATGTGCGCGGCGGGCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02622.hp1 others(1): Show HG01891.hp1 HG02258.hp2 HG02622.hp1 HG03491.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0003 a0005c0005t0003 a0003c0003t0003 a0005c0005t0003	a0003c0003t0003g0026 a0005c0005t0003g0120 a0003c0003t0003g0026 a0005c0005t0003g0120	4	436	0.0092	-169	c.-76 others(14): Show c.-76+58_-76+226del	HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding	1/2			chr11	TogoVar
IL3RA_chrX_1331785_1387689	1366426	GGGTGAGC others(162): Show GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTG AGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCC GGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGA GCGGGGTGAGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	115	0.0087	-169	c.874 others(17): Show c.874+1179_874+1347del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INO80D_chr2_205988721_206091174	205988746	AACTAAAA others(162): Show AACTAAAATAAAATAAAATAAATAAAATAAAATAAAATAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAATAAAATA AAATAAATAAAATAAATAAAATAAATAAAATAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0016 a0005c0015t0016	a0005c0015t0016g0324 a0005c0015t0016g0324	1	334	0.0030	-169	c.15 others(13): Show c.15453_*15621del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4974		chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154357637	TATATAAT others(162): Show TATATAATATATATATATAATATATATATTATATATATATTATATATATA TTATATATAATATATATATTATATATATATTATATATATAATATATATAT TATATATATTATATATATATAATATATAAAATATATATATTATATATATA AAATATATATAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18747.hp1 NA18945.hp1 others(3): Show HG03704.hp1 NA18747.hp1 NA18945.hp1 NA19058.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0002g0021 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0080 a0001c0001t0002g0021 a0001c0001t0002g0046 a0001c0001t0004g0013 a0001c0001t0010g0049	6	264	0.0227	-169	c.-11 others(11): Show c.-1196_-1028del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		835		chr6	TogoVar
ITGB3BP_chr1_63435770_63528225	63473800	GGTCAGCC others(162): Show GGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01168.hp2 others(18): Show HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01934.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02559.hp1 HG02698.hp1 HG02723.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18939.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0262 others(18): Show a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0005t0001g0240	21	374	0.0562	-169	c.254 others(17): Show c.254+4795_254+4963del	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
LHPP_chr10_124456823_124619141	124506796	GGGGGGTA others(162): Show GGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGG GGGTAGGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGG GTAGGGAGGATTTCAGGTTGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19065.hp1 NA18966.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0214 a0001c0001t0001g0077 a0001c0001t0001g0214	2	260	0.0077	-169	c.624 others(17): Show c.624+8672_624+8840del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76866925	TTGGGGGG others(162): Show TTGGGGGGGGTGGTAGGTGTGTGGGGTGTGTGTGTGTGTGTGTGTGTGTG TTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTGGGG GTGGGGTGTGTGTGTGCATGTGGTAGTGTGTGGGGTGTGTGGGTGTGTTG GGGGGTGGGGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0191 a0001c0007t0001g0191	1	408	0.0025	-169	c.130 others(17): Show c.1309-423_1309-255del	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRTM4_chr2_76742685_77527376	76986077	ATTAATCT others(162): Show ATTAATCTAGTTAGATTTTAAATAATGTTAACTCTAGATTTTCATTGGAC TTTTGCATTTTAGCAGTGCTACTTTTTTTTGAGATGTTCCTTCTGAATAT CTACTTGAATTTTCATTGTTTGACTTGAACTTCTGAAGAGTGTGCATTTA AAATTCTGTTCTTTTAGTTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	128	0.0078	-169	c.155 others(23): Show c.1552-237330_1552-237162del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MEGF11_chr15_65890299_66258750	66039837	GGGGTGAC others(162): Show GGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGA GCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCG GTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCT GAGCCGGGTCAGGCGGCGGT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	176	0.0057	-169	c.394 others(19): Show c.394+54396_394+54564del	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MELTF_chr3_196996740_197034817	197030202	AGGGGGGA others(162): Show AGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTG GGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCA GGGGCATCTCGGCCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCC AGGCCGAGCGCCCTGGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG03491.hp1 HG03492.hp2 HG01361.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0007 a0001c0001t0012 a0001c0002t0007	a0001c0001t0012g0055 a0001c0002t0007g0062 a0001c0001t0012g0055 a0001c0002t0007g0062	3	420	0.0071	-169	c.-66 others(9): Show c.-669_-501del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		386		chr3	TogoVar
MELTF_chr3_196996740_197034817	197030286	AGGGGGGA others(162): Show AGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTG GGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCA GGGGCATCTCGGCCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCC AGGCCGAGCGCCCTGGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02922.hp2 HG02976.hp2 others(8): Show HG01255.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp2 NA18945.hp2 NA18949.hp1 NA18979.hp2 NA19002.hp1 NA19010.hp1 NA19065.hp1 NA19065.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0004 a0014c0029 a0001c0001 a0002c0004 a0014c0029	a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 a0001c0001t0037 a0001c0001t0051 a0002c0004t0007 a0014c0029t0021	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0014g0007 a0001c0001t0022g0071 a0001c0001t0037g0204 a0001c0001t0051g0075 a0002c0004t0007g0236 a0014c0029t0021g0067	11	420	0.0262	-169	c.-75 others(9): Show c.-753_-585del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		470		chr3	TogoVar
MIER2_chr19_300573_349796	323199	CAAGACAC others(162): Show CAAGACACACACAACCACGCAGACAACTCGAATGATACAGTCGTCATCAT AATGCAATACACAAGACACACACAACCACGGCATCCAAACCAAGGACCAC AACGCAATACACAAGACACATACAACCACGCAGACGACTCGAATGACACA GACATCATCACAATGCAGTA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01243.hp1 others(16): Show HG01081.hp2 HG01192.hp1 HG01243.hp1 HG01891.hp2 HG01978.hp1 HG02145.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03490.hp2 HG04115.hp2 NA18522.hp2 NA19030.hp2 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0026 a0001c0002 a0008c0026	a0001c0002t0002 a0008c0026t0002 a0001c0002t0002 a0008c0026t0002	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 others(16): Show a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0228 a0008c0026t0002g0108	19	384	0.0495	-169	c.655 others(17): Show c.655+2267_655+2435del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	7/13			chr19	TogoVar
MINK1_chr17_4828340_4903061	4878998	AAGGTGGC others(162): Show AAGGTGGCCTGACCACTGCTCACACTTGGATTGTGGGAGCCGCTGCAGCA GGGAGTGAGGTGGCCTGACCACTGCTCACACTTGGATTGTGGGAGCCGCT GCAGCAGGGAGTGAGGTGGCCTGACCACTGCTGACACTTGGATTGGGAGG AGCCGCTGCAGCAGGGAGTG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0036 a0003c0003t0003g0036	1	360	0.0028	-169	c.123 others(15): Show c.123+636_123+804del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYH10_chr17_8469224_8635725	8496427	CCAGCTCT others(162): Show CCAGCTCTAGAAGTTGCCAGGTAAGTCACCAGAGCGGGCAAGAGCCTTAG CTTCTTTGAGCCTCAGGTTCCTCACCTACCAGAGGGGTTGACTGAGGTTT AAATGGGGAACAACGTACATGGGAGCCTAGCACATGCCTGGTGCAGCACA GGGGACAAGGAACTGTCACT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	274	0.0037	-169	c.395 others(19): Show c.3952-1355_3952-1187del	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	30/42			chr17	TogoVar
MYO3B_chr2_170173147_170660167	170649068	GTATATTA others(162): Show GTATATTATATATAAAATAATATATAATGTATATTATATATAAAATAATA TATAATGTATATAAAATAATATATAATATATTATATATAAAATAATATAT AATATATTATATATAAAATAATATATATTATATATAAAATAATATATAAT ATATTATATATAAAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02970.hp1 others(1): Show HG02055.hp2 HG02258.hp2 HG02970.hp1 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0016 others(1): Show a0001c0001 a0001c0004 a0009c0016 a0009c0020	a0001c0001t0006 a0001c0004t0006 a0009c0016t0006 others(1): Show a0001c0001t0006 a0001c0004t0006 a0009c0016t0006 a0009c0020t0006	a0001c0001t0006g0134 a0001c0004t0006g0013 a0009c0016t0006g0007 others(1): Show a0001c0001t0006g0134 a0001c0004t0006g0013 a0009c0016t0006g0007 a0009c0020t0006g0080	4	174	0.0230	-169	c.373 others(19): Show c.3734-2532_3734-2364del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57687860	TATAATAT others(162): Show TATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATA CACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGTAC AATATACACATATATAATGTGTGTACAATATACACATATATAAATGTGTG TACAATATACACATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG02071.hp2 others(7): Show HG00544.hp2 HG00609.hp2 HG02071.hp2 NA18942.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18986.hp1 NA19003.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0207 others(7): Show a0001c0001t0001g0158 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0003t0003g0138	10	352	0.0284	-169	c.33 others(11): Show c.3363_*3531del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2497		chr15	TogoVar
NPIPB6_chr16_28337517_28368508	28351857	TATAAAAA others(162): Show TATAAAAAAGCATTGTGGTATTAGTACTTTTATCTTGGATCATTGTTCAG GAGGTTCAGCCCCCAGAAAACCACATTTTTACTGTCATGAATGGCAAGAC AAAATGTAGAGCTCAACTTACCCAAAGGAAAAAAGGCTCAAAAGACAAAT TATGGCACAACTTAGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp1 others(53): Show HG00099.hp2 HG00280.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01978.hp2 HG02074.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02698.hp2 HG02976.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18982.hp1 NA18990.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19079.hp2 NA20805.hp2	a0002 a0004 a0008 others(6): Show a0002 a0004 a0008 a0011 a0014 a0015 a0021 a0022 a0023	a0002c0002 a0004c0004 a0008c0011 others(6): Show a0002c0002 a0004c0004 a0008c0011 a0011c0013 a0014c0016 a0015c0017 a0021c0022 a0022c0024 a0023c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0004c0004t0002 a0008c0011t0002 a0011c0013t0002 a0014c0016t0002 a0015c0017t0002 a0021c0022t0002 a0022c0024t0001 a0023c0023t0001	a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0002g0017 others(46): Show a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0006g0268 a0004c0004t0002g0252 a0008c0011t0002g0270 a0008c0011t0002g0273 a0008c0011t0002g0284 a0011c0013t0002g0018 a0011c0013t0002g0258 a0014c0016t0002g0256 a0014c0016t0002g0279 a0015c0017t0002g0255 a0015c0017t0002g0286 a0021c0022t0002g0261 a0022c0024t0001g0168 a0023c0023t0001g0169	56	361	0.1551	-169	c.303 others(16): Show c.303+853_303+1021del	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	3/7			chr16	TogoVar
NXN_chr17_794310_984776	948971	CCCCGCGG others(162): Show CCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCGTGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	242	0.0041	-169	c.360 others(19): Show c.360+30179_360+30347del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P3H1_chr1_42741374_42772028	42750556	CGTCCGGG others(162): Show CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCCGGGGG GGGTGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp2 others(9): Show HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01981.hp1 HG02486.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03516.hp1 HG04228.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0003 a0006c0005t0003 a0003c0003t0003 a0006c0005t0003	a0003c0003t0003g0052 a0003c0003t0003g0247 a0003c0003t0003g0248 others(8): Show a0003c0003t0003g0052 a0003c0003t0003g0247 a0003c0003t0003g0248 a0003c0003t0003g0249 a0003c0003t0003g0250 a0003c0003t0003g0251 a0003c0003t0003g0252 a0006c0005t0003g0075 a0006c0005t0003g0140 a0006c0005t0003g0164 a0006c0005t0003g0192	12	406	0.0296	-169	c.157 others(17): Show c.1570-389_1570-221del	P3H1	ENSG00000117385.16	transcript	ENST00000296388.10	protein_coding	10/14			chr1	TogoVar
PCGF3_chr4_700832_775089	745124	CTCGCCGT others(162): Show CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp1 HG03492.hp2 HG02145.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0329 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0002g0329 a0001c0001t0014g0026 a0001c0001t0014g0027	3	366	0.0082	-169	c.462 others(15): Show c.462+475_462+643del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(162): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02165.hp1 HG03130.hp1 others(1): Show HG01928.hp1 HG02165.hp1 HG03130.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0002c0002t0048 a0001c0001t0004 a0002c0002t0003 a0002c0002t0048	a0001c0001t0004g0119 a0002c0002t0003g0039 a0002c0002t0003g0070 others(1): Show a0001c0001t0004g0119 a0002c0002t0003g0039 a0002c0002t0003g0070 a0002c0002t0048g0047	4	366	0.0109	-169	c.462 others(17): Show c.462+1438_462+1606del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746354	GGGGGTCG others(162): Show GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0011 a0001c0001t0022g0011	1	366	0.0027	-169	c.462 others(17): Show c.462+1723_462+1891del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746977	CCCGGGGT others(162): Show CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18944.hp2 NA18986.hp1 NA18612.hp2 NA18944.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0282 a0001c0001t0008g0270 a0001c0001t0008g0340 a0001c0001t0002g0282 a0001c0001t0008g0270 a0001c0001t0008g0340	3	366	0.0082	-169	c.462 others(17): Show c.462+2292_462+2460del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PHF5A_chr22_41454717_41473692	41455605	GGAGGCTG others(162): Show GGAGGCTGAGGAAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGT GAGCCAAGATTGCGCCATTGTACTCCAGACTGGGCGACAAGAGCAAGACT TCGTCTCAAAAAAAAAACAACAAAAATTAGCCGGGTGTGGTGGCACATGC CTGTAGTCCCAGCTACTCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-169	c.46 others(11): Show c.4624_*4792del	PHF5A	ENSG00000100410.8	transcript	ENST00000216252.4	protein_coding		4111		chr22	TogoVar
PKP3_chr11_389209_409908	390709	CCCCCTTC others(162): Show CCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGACCCCAGGAGAA CCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAG GAGCGCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCC CCGCCTGCCTCAGACAGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	216	0.0046	-169	c.-35 others(11): Show c.-3583_-3415del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3499		chr11	TogoVar
PKP3_chr11_389209_409908	400888	GCCCCGCT others(162): Show GCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCT CACCCCGGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02135.hp1 HG02145.hp2 others(2): Show HG01243.hp1 HG02135.hp1 HG02145.hp2 NA18980.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0005t0001g0009 a0001c0005t0001g0010	5	216	0.0232	-169	c.173 others(17): Show c.1737+184_1737+352del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	400947	CCGGCCCC others(162): Show CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGA CCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03927.hp1 HG02145.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0188 a0001c0001t0001g0078 a0001c0001t0001g0188	2	216	0.0093	-169	c.173 others(17): Show c.1737+244_1737+412del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 10000 hits)