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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGATCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	158	0.0063	420	c.608 others(439): Show c.608+16590_608+16591insTTGATCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGATCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCATTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03492.hp1 HG04204.hp2 HG01516.hp1 HG03492.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0083 a0001c0002t0004g0021 a0001c0002t0004g0023 a0001c0001t0001g0083 a0001c0002t0004g0021 a0001c0002t0004g0023	3	158	0.0190	420	c.608 others(439): Show c.608+16590_608+16591insTTGATCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCATTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGATCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(20): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG02074.hp2 HG03669.hp1 HG04115.hp1 HG04199.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp2 NA18979.hp1 NA18990.hp2 NA18994.hp2 NA19056.hp2 NA19065.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0002c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0056 others(20): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0003g0092 a0001c0001t0009g0084 a0001c0001t0010g0116 a0001c0001t0011g0044 a0001c0001t0013g0112 a0001c0002t0002g0135 a0001c0002t0004g0010 a0001c0002t0004g0015 a0001c0002t0004g0024 a0001c0003t0002g0001 a0001c0003t0002g0002 a0001c0003t0002g0004 a0001c0003t0002g0005 a0002c0005t0001g0069	23	158	0.1456	420	c.608 others(439): Show c.608+16590_608+16591insTTGATCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGACTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	158	0.0063	420	c.608 others(439): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGACTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCAGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp2 HG02897.hp2 HG02258.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0014g0087 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0014g0087	3	158	0.0190	420	c.608 others(439): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCAGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCATCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	158	0.0063	420	c.608 others(439): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCATCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG00735.hp2 others(105): Show HG00423.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18974.hp1 NA18979.hp2 NA18994.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0006 a0002c0005t0001 a0003c0006t0004	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(105): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0003g0033 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0094 a0001c0001t0003g0105 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0012g0053 a0001c0001t0015g0106 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0022 a0001c0002t0005g0098 a0001c0002t0005g0119 a0001c0002t0005g0120 a0001c0002t0005g0134 a0001c0002t0005g0143 a0001c0002t0005g0146 a0001c0002t0005g0147 a0001c0002t0005g0150 a0001c0002t0007g0025 a0001c0002t0007g0026 a0001c0002t0008g0151 a0001c0003t0002g0003 a0001c0003t0002g0006 a0001c0003t0005g0008 a0001c0004t0001g0051 a0001c0004t0001g0107 a0001c0004t0006g0154 a0002c0005t0001g0114 a0003c0006t0004g0017	108	158	0.6835	420	c.608 others(439): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTCGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234248309	C C	CCATTGTT others(413): Show CCATTGTTTGGTGGGTTGGTTGGTTGGTCCATTGCTTGGTGGGTTGGTTG GTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGGT TGGTTGACTGGTTTGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTTG GTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCAT TGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCTG GTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAGT TGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATGG GTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGTT TGATGGGTCAGTTGGCTGGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	158	0.0063	420	c.608 others(439): Show c.608+16590_608+16591insTTGGTCCATTGCTTGGTGGGTTGGTT GGTTGGTCCATTGCTTGGTGGATTGCTTGGCTGGTCCATTGTTCAGTAGG TTGGTTGACTGGTTTGTTGTTCGGTGGGTTGATTGGCTGGTCCATTGTTT GGTGGGTTGAATGGCTGGTCTGTTGTTCAGTAGGTTGGTTGGCTGGTCCA TTGTTTGGGGGGCTGGTTGGCTGGTCAGTTGTTCTGTGGGTCGGTTGGCT GGTGCATTGTTCAGTGGGTTGGTTGGCTGGTCCATTGTTTGATGGGTCAG TTGGCTGGTGCATCGTTTGGTGGGTTGGTTGGCTGGTCCATTGTTTGATG GGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGGCTCGTCCATTGT TTGATGGGTCAGTTGGCTGGTGCATTGTTTGGTGGGTTGGTTGG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1221785	C C	CTTTGTCC others(413): Show CTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGC CTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGT CTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCT CTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCT TTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTA GTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCT CTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCT GTCCCTTTCAGTCTCTGGTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp1 HG03017.hp2 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0139 a0002c0005t0001g0131 a0002c0003t0001g0139 a0002c0005t0001g0131	2	190	0.0105	420	c.719 others(439): Show c.719+12556_719+12557insTTGTCCCTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCT GTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGT GTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTT TTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCT CTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCT GTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGT CTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCT GCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222599	C C	CTGGAGGT others(413): Show CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTG ATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0107 a0002c0005t0001g0107	1	190	0.0053	420	c.719 others(439): Show c.719+13398_719+13399insTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAG TGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222814	G G	GGTGCTGG others(413): Show GGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGA GGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAG GAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGA GGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0008 a0003c0007t0001g0008	1	190	0.0053	420	c.719 others(439): Show c.719+13608_719+13609insTGGTGCAGTGATGGAGGGTGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAG GGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222816	T T	TGCTGGAT others(413): Show TGCTGGATCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCCCT GTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGCGGTGCA GTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCG CTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTG CTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGG GCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGA AGGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGG TGCTGGATCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCCCT GTCCTGCCTGCTGCTGGAGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0006 a0006c0010t0001g0006	1	190	0.0053	420	c.719 others(439): Show c.719+13606_719+13607insGGCGGCGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGCGGT GCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGG AGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGA GGAAGGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAGGCGGCGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222839	C C	CGGTGCAG others(413): Show CGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGTGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG GTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	190	0.0053	420	c.719 others(439): Show c.719+13677_719+13678insCTGGTGCAGTGATGGAGGGTGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGAT CGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(413): Show GGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	322	0.0031	420	c.909 others(435): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(413): Show AAGGGGAAGGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGG GGAGGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGG GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAA GGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGGGGGG GGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGG GAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	251	0.0040	420	c.34 others(429): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCCCCCCCCTCCCC ATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCC CTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCC CGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCC CTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCC CTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(413): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGG AAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGAGGGGGAG GGGAGGGGGAGGGAGGGGGGGGGAGGGTGAGGGGAGGGGGGGAGGGGAGG GAGGGGGGAGGGGGGGAGGGGAGGGGAGGGAGGGGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGAGGGGAGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGG AGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGG GGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	260	0.0039	420	c.138 others(439): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCTCCCCCCCTC CCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCCCTCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCTCC CCTCCCCCCCTCCCCTCACCCTCCCCCCCCCTCCCTCCCCCTCCCCTCCC CCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCT CCCCTCCCCTCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109041	C C	CTTATATA others(413): Show CTTATATAAAAATATATATAAATATATACTTATATAAAAATATATATAAA TATATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	144	0.0069	420	c.190 others(439): Show c.190-46505_190-46504insATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAGTATATATTTAT ATATATTTTTATATAAGTATATATTTATATATATTTTTATATAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STK38L_chr12_27239286_27330959	27241502	A A	ATATATTA others(413): Show ATATATTACATATATGACTCTGTATAGTTATATATTACATATATGACTCT GTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATTAC ATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGT TATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATAT ATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGT GTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATATAT GACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	374	0.0027	420	c.-28 others(431): Show c.-2842_-2841insTATATTACATATATGACTCTGTATAGTTATATAT TACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTAT AGTTATATATATTACATATATGACTCTGTATAGTTATATATATTACATAT ATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATATTA CATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTT ATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2783		chr12	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(413): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATATACGTGTGTGTATATATACACGTGTATATATATATACGT GTGTGTATATATACACGTGTATATATATATACGTGTGTGTATATATACAC GTGTATATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATATACGT GTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	392	0.0026	420	c.271 others(437): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATATACACGTGTATA TATACACACACGTATATATATATACACGTGTATATATACACACACGTATA TATATATACACGTGTATATATACACACACGTATATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACGTATATATATACA CGTGTATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYN3_chr22_32502820_33063381	32604473	C C	CCTGAGAT others(413): Show CCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATAC TCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCC CGTCTCATACTCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCT AGGCCAATCCCGTCTCATACTCATGTCTCCGCTGAGATACCCTCCCTCAC ACTCTTTTCTAGGCCAATCCCGTCTCATACTCATGTCTCCGCTGAGATAC CCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATACTCATGTCTCC GCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCCCGTCTCATAC TCATGTCTCCGCTGAGATACCCTCCCTCACACTCTTTTCTAGGCCAATCC CGTCTCATACTCATGTCTCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02055.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0071 a0001c0001t0020 a0002c0002t0071	a0001c0001t0020g0156 a0002c0002t0071g0155 a0001c0001t0020g0156 a0002c0002t0071g0155	2	184	0.0109	420	c.712 others(437): Show c.712-7738_712-7737insCGGAGACATGAGTATGAGACGGGATTGG CCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAG ACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACA TGAGTATGAGACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTC AGCGGAGACATGAGTATGAGACGGGATTGGCCTAGAAAAGAGTGTGAGGG AGGGTATCTCAGCGGAGACATGAGTATGAGACGGGATTGGCCTAGAAAAG AGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAGACGGGATTGG CCTAGAAAAGAGTGTGAGGGAGGGTATCTCAGCGGAGACATGAGTATGAG ACGGGATTGGCCTAGAAAAGAGTGTGAGGGAGGGTATCTCAG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
TBCA_chr5_77686166_77781339	77756380	A A	ACACTCCC others(413): Show ACACTCCCATTGGGCTCCCGGTCACTCAAAGGCACCTTCTGGTTGGGAGG AGCACAATGACCTTTATCTTCAGAGCTGAGGAAACACAATCTCTCATTTA TCTATGAAAATGACTTTTCAGTTTCTCAGGTGAATGTGCAGACAAGCCAA TGGAGATTAATTTTGGAAGGAAAGGCAATGAAGACTTTAGAATCTTCTAA AGAATCTTGCCCGCTAGAATTAGCATCCTAAAGAACAACTTCCTAAGAGG AAAAAAAAAAAAAAACAGCTAGGACTGCTTCCTATAAATTGTCCTCAGCC ACCTTTAACTTTGTAGTTCTCATCCACCATTACACACACCAAGGTCAAAT CCTTTCACTGTACAGGGTAGTCTCTGGAACCCCCGAAAGCCAAAGAGATC AGGTAATGCAATATGGGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	354	0.0028	420	c.53+ others(437): Show c.53+19824_53+19825insCTTTCCCATATTGCATTACCTGATCTCT TTGGCTTTCGGGGGTTCCAGAGACTACCCTGTACAGTGAAAGGATTTGAC CTTGGTGTGTGTAATGGTGGATGAGAACTACAAAGTTAAAGGTGGCTGAG GACAATTTATAGGAAGCAGTCCTAGCTGTTTTTTTTTTTTTTTCCTCTTA GGAAGTTGTTCTTTAGGATGCTAATTCTAGCGGGCAAGATTCTTTAGAAG ATTCTAAAGTCTTCATTGCCTTTCCTTCCAAAATTAATCTCCATTGGCTT GTCTGCACATTCACCTGAGAAACTGAAAAGTCATTTTCATAGATAAATGA GAGATTGTGTTTCCTCAGCTCTGAAGATAAAGGTCATTGTGCTCCTCCCA ACCAGAAGGTGCCTTTGAGTGACCGGGAGCCCAATGGGAGTG	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTCTCTC others(413): Show TTTCTCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	330	0.0030	420	c.222 others(439): Show c.222+12014_222+12015insCTCTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TENM4_chr11_78647829_79446030	79139245	T T	TATATATT others(413): Show TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAACATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0067 a0001c0008t0014g0067	1	94	0.0106	420	c.-66 others(437): Show c.-66+9464_-66+9465insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATAT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139382	T T	TAAATATA others(413): Show TAAATATATAAAATATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATA AAACATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTA GAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATAT TATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATATATA AAATATATATTATATTTCTAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0094 a0001c0005t0064g0094	1	94	0.0106	420	c.-66 others(437): Show c.-66+9327_-66+9328insCTAGAAATATAATATATATTTTATATAT TTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATA TTTTATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATATAT TTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATATTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139382	T T	TAAATATA others(413): Show TAAATATATAAAATATATATTATATTTCTATAAATATATAAAATATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATA AAACATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTA TAAATATATAAAACATATATTATATTTCTATAAATATATAAAACATATAT TATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATA AAATATATATTATATTTCTAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0018 a0007c0014t0001g0018	1	94	0.0106	420	c.-66 others(437): Show c.-66+9327_-66+9328insCTAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATATAT TTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATATATG TTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGAAAT ATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATATAT TTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATA TTTTATATATTTATAGAAATATAATATATATTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1290152	C C	CACGTGAC others(413): Show CACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGAC AGGGACACCCGGGGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACAC CCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGC CGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGTGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGAC ACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACCGCGCCTCACTCACCCTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02886.hp1 others(5): Show HG02055.hp1 HG02258.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 others(5): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0382 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0004g0229 a0001c0001t0004g0233	8	392	0.0204	420	c.157 others(439): Show c.1573+3160_1573+3161insTCAGGGTGAGTGAGGCGCGGTCCCCG GGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTC CCTGTCACGTTCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290975	G G	GCACCTCA others(413): Show GCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCA CTCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACGCT GCACGGGACAGGGACACCCGGGGACCACGCCTCACTCACCCTACACGTGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGA CCACGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGATGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACG CTGCACGGGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTACACGT GACAGGGACACCCGGACGCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0191 a0001c0008t0002g0191	1	392	0.0026	420	c.157 others(439): Show c.1573+2337_1573+2338insTGGCGTCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCCCGTGCAGCGTGA TTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTG CCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGTGGTCCCC GGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCC CTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGTGGTCCCCGGGTGTCCCTGTCCCGTGCAGCGT GATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGG CGCCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THEG_chr19_356747_381026	376951	C C	CTCTGTGC others(413): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	370	0.0027	420	c.-98 others(429): Show c.-982_-981insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTG GGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		926		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196335064	A A	AGGGAGGG others(413): Show AGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGT GCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGG GGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAA GGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGA GGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTGGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	370	0.0027	420	c.-2+ others(435): Show c.-2+3199_-2+3200insCTCTCCAACCCCCACCTTCTCAGGGCATCC CTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACC CCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAG CACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTC CTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCT CAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCC CTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCAC CCTCCCAGTGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCC CTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCC	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0043 a0004c0006t0002g0043	1	444	0.0023	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0169 a0001c0005t0028g0169	1	444	0.0023	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(413): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp1 NA19009.hp1 HG02559.hp1 HG03041.hp1 NA19009.hp1	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0006 a0007c0007 a0003c0003 a0004c0006 a0007c0007	a0003c0003t0001 a0004c0006t0007 a0007c0007t0002 a0003c0003t0001 a0004c0006t0007 a0007c0007t0002	a0003c0003t0001g0408 a0004c0006t0007g0036 a0007c0007t0002g0062 a0003c0003t0001g0408 a0004c0006t0007g0036 a0007c0007t0002g0062	3	444	0.0068	420	c.227 others(439): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0314 a0001c0001t0083g0314	1	444	0.0023	420	c.227 others(439): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0287 a0001c0001t0011g0287	1	444	0.0023	420	c.227 others(439): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0037 a0004c0006t0010g0037	1	444	0.0023	420	c.227 others(439): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	444	0.0023	420	c.227 others(439): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115807	G G	GGCGAAGG others(413): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0089 a0003c0003t0089	a0003c0003t0089g0393 a0003c0003t0089g0393	1	444	0.0023	420	c.227 others(439): Show c.2277+1461_2277+1462insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115915	G G	GAAGGGAG others(413): Show GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0152 a0005c0004t0001g0152	1	444	0.0023	420	c.227 others(439): Show c.2277+1353_2277+1354insTGCTCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(413): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03239.hp1 HG02040.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0011 a0001c0004t0001 a0001c0002t0011 a0001c0004t0001	a0001c0002t0011g0001 a0001c0004t0001g0036 a0001c0002t0011g0001 a0001c0004t0001g0036	2	94	0.0213	420	c.129 others(441): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCTTCC others(413): Show CAGCTTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0014g0004 a0001c0002t0001g0074 a0001c0001t0014g0004 a0001c0002t0001g0074	2	94	0.0213	420	c.129 others(441): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAAGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMTC2_chr12_82681906_83139866	82900207	C C	CTGTAGGA others(413): Show CTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACAT ATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0016 a0004c0006t0003g0016	1	96	0.0104	420	c.148 others(439): Show c.1483+3595_1483+3596insCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATA TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287479	C C	CCCTCCCC others(413): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0191 a0001c0002t0003g0191	1	348	0.0029	420	c.519 others(437): Show c.519+1144_519+1145insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287815	G G	GCCTCCCC others(413): Show GCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	348	0.0029	420	c.519 others(435): Show c.519+808_519+809insGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGG GAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(413): Show CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGC AGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	348	0.0029	420	c.519 others(435): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAG GCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(413): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0318 a0001c0002t0004g0318	1	348	0.0029	420	c.183 others(437): Show c.183+1443_183+1444insGCGGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC TGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294201	T T	TGTGGCTC others(413): Show TGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGT GGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGC TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0317 a0001c0001t0004g0317	1	348	0.0029	420	c.183 others(437): Show c.183+1443_183+1444insGCAGGCTTTCGTAGAAATGCAGGGAAAG GAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACAC TGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGT GAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAG CCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCA CGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGC GGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGG CTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294809	C C	CGTGGCTC others(413): Show CGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCAT GGCTCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCA CAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGT GTCTCCTTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTC TCCTTTTCCTGCATTTCTACGAAAGCCCGGGTGGCTCACGGTGTGTCTCC TTTTCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTT TCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCC TGCATTTCTACGAAAGCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0226 a0001c0001t0001g0108 a0001c0001t0001g0226	2	348	0.0058	420	c.183 others(435): Show c.183+835_183+836insCCGGGCTTTCGTAGAAATGCAGGGAAAGGA GACACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGAC ACACCGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACA CCGTGAGCCACCCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCG TGAGCCACGCGGGCTTTCGTAGAAATGCAGGAAAAGGAGACACACCGTGA GCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCC ACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACG CGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCT TTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGCCAC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP73_chr1_3647516_3741201	3694716	G G	GCCCTGCA others(413): Show GCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCTGCAA TCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCA CCCCTCCTCCCGCAATCCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02040.hp2 others(8): Show HG00438.hp2 HG00597.hp2 HG02040.hp2 HG02132.hp2 HG02135.hp2 HG03927.hp2 NA18940.hp1 NA18947.hp1 NA18971.hp2 NA18994.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0003t0006 a0001c0001t0003 a0001c0002t0001 a0001c0003t0006	a0001c0001t0003g0314 a0001c0002t0001g0063 a0001c0002t0001g0188 others(8): Show a0001c0001t0003g0314 a0001c0002t0001g0063 a0001c0002t0001g0188 a0001c0002t0001g0275 a0001c0003t0006g0152 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0159 a0001c0003t0006g0330 a0001c0003t0006g0336 a0001c0003t0006g0337	11	358	0.0307	420	c.186 others(439): Show c.186+11538_186+11539insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694716	G G	GCCCTGCA others(413): Show GCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCTGCAA TCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCA CCCCTCCTCCCGCAATCCCAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0301 a0001c0001t0002g0302	2	358	0.0056	420	c.186 others(439): Show c.186+11538_186+11539insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(413): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCACACACCACACC CCATACACACCACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACACCCC CCCACACACCACACAAACCACACACCCCACACACCACACACACACACCAC ACCCCACACCACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	338	0.0030	420	c.35 others(439): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACACCCCCCCACACACCACACAAACCACACACCCCACAC ACCACACACACACACCACACCCCACACCACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)