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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RSPH1_chr21_42467486_42501224	42477006	G G	GGGGGATG others(34): Show GGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	408	0.0025	41	c.727 others(56): Show c.727+284_727+285insGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477049	C C	CACACCCT others(34): Show CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18994.hp1 HG02074.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0278 a0001c0001t0001g0172 a0001c0001t0001g0278	2	408	0.0049	41	c.727 others(56): Show c.727+241_727+242insAGGGCACCCCCGGGCTGTGGAGTGGAGGGG GCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477070	C C	CCCACAGC others(34): Show CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0254 a0001c0001t0001g0023 a0001c0001t0001g0254	2	408	0.0049	41	c.727 others(56): Show c.727+180_727+220dupAGTGGAGGGGGCAGAGGGTGTGGGGCATCC CCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477111	T T	TCCACAGC others(34): Show TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0289 a0008c0015t0001g0289	1	408	0.0025	41	c.727 others(56): Show c.727+139_727+179dupGGTGGAGGGGGCAGAGGGTGTGGGGCATCC CCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477142	C C	CCCCCTCC others(34): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp1 HG02738.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0036 a0001c0001t0001g0044	2	408	0.0049	41	c.727 others(56): Show c.727+108_727+148dupTCAGAGGGTGTGGGGCATCCCCGGGCTGTG GGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477152	C C	CCCACAGC others(34): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	408	0.0025	41	c.727 others(56): Show c.727+138_727+139insAGTGGAGGGGGCAGAGGGTGTGGGGCACCC CCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(34): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	408	0.0025	41	c.727 others(54): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(34): Show CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18997.hp2 HG02615.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0244 a0001c0002t0002g0127 a0001c0001t0001g0244 a0001c0002t0002g0127	2	408	0.0049	41	c.727 others(54): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477266	C C	CCCTCAGC others(34): Show CCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	408	0.0025	41	c.727 others(54): Show c.727+24_727+25insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGAGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTATATA others(34): Show TTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19070.hp2 NA18969.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0011 a0001c0001t0020	a0001c0001t0011g0171 a0001c0001t0020g0144 a0001c0001t0011g0171 a0001c0001t0020g0144	2	276	0.0073	41	c.652 others(60): Show c.652+16796_652+16797insTATATATATATATATATATATATATA TATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTCB_chr22_32382582_32417247	32417134	T T	TTCAAACC others(34): Show TTCAAACCTCAAGACCTAAAATAAAAGAGGAAATAGAATCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	438	0.0023	41	c.-50 others(52): Show c.-5019_-4979dupTTGATTCTATTTCCTCTTTTATTTTAGGTCTTGA GGTTTGA	RTCB	ENSG00000100220.12	transcript	ENST00000216038.6	protein_coding		4888		chr22	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAAATAA others(34): Show TAAAATAAATAAAATAAAATAAAACAAAACAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	134	0.0075	41	c.-44 others(62): Show c.-444-79388_-444-79387insAATAAATAAAATAAAATAAAACAA AACAAAATAAAATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	170	0.0059	41	c.142 others(58): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GGCCCCGC others(34): Show GGCCCCGCCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02602.hp2 HG02135.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0029 a0001c0001t0030 a0002c0002t0029	a0001c0001t0030g0027 a0002c0002t0029g0002 a0001c0001t0030g0027 a0002c0002t0029g0002	2	365	0.0055	41	c.15 others(50): Show c.158_*159insCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGC CCCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	159	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241873426	G G	GCCCCCCG others(34): Show GCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG03098.hp2 HG03139.hp2 others(1): Show HG00741.hp2 HG03098.hp2 HG03139.hp2 NA18959.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0035 a0002c0002t0015 a0003c0003t0024 a0001c0001t0035 a0002c0002t0015 a0003c0003t0024	a0001c0001t0035g0006 a0002c0002t0015g0002 a0003c0003t0024g0042 a0001c0001t0035g0006 a0002c0002t0015g0002 a0003c0003t0024g0042	4	365	0.0110	41	c.17 others(50): Show c.175_*176insTCACCTCCGACGCCCCGCCCCCCCGCCTCCGAGACC CCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	176	INFO_REALIGN_3_PRIME	chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626498	C C	CATATATA others(34): Show CATATATATGTGTCATATATATGTGTCATATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	202	0.0050	41	c.-23 others(52): Show c.-2326_-2325insATATATATGTGTCATATATATGTGTCATATATAT GTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1899		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(34): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	202	0.0050	41	c.-20 others(52): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
SAMD11_chr1_918923_949574	948711	C C	CACCCTGG others(34): Show CACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(385): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029	a0001c0001 a0001c0002 a0001c0004 others(41): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0017 a0001c0019 a0001c0021 a0001c0023 a0001c0029 a0001c0032 a0001c0033 a0001c0046 a0002c0003 a0002c0018 a0002c0026 a0002c0049 a0003c0006 a0004c0008 a0004c0036 a0005c0007 a0007c0012 a0008c0014 a0009c0013 a0010c0015 a0011c0035 a0011c0043 a0012c0025 a0013c0020 a0014c0027 a0015c0022 a0016c0028 a0017c0051 a0018c0030 a0019c0041 a0021c0040 a0023c0042 a0024c0037 a0025c0045 a0026c0038 a0027c0047 a0028c0048 a0029c0050	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(69): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0020 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0004t0001 a0001c0004t0003 a0001c0004t0027 a0001c0005t0001 a0001c0009t0003 a0001c0009t0010 a0001c0011t0002 a0001c0011t0006 a0001c0011t0028 a0001c0017t0001 a0001c0019t0006 a0001c0021t0002 a0001c0021t0004 a0001c0023t0001 a0001c0029t0002 a0001c0032t0002 a0001c0033t0002 a0001c0046t0014 a0002c0003t0004 a0002c0003t0024 a0002c0018t0004 a0002c0026t0002 a0002c0049t0004 a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 a0004c0008t0002 a0004c0008t0006 a0004c0008t0017 a0004c0036t0002 a0005c0007t0008 a0005c0007t0022 a0007c0012t0001 a0008c0014t0004 a0009c0013t0002 a0010c0015t0002 a0011c0035t0021 a0011c0043t0001 a0012c0025t0003 a0013c0020t0002 a0013c0020t0006 a0014c0027t0004 a0015c0022t0001 a0016c0028t0008 a0017c0051t0001 a0018c0030t0006 a0019c0041t0003 a0021c0040t0003 a0023c0042t0001 a0024c0037t0006 a0025c0045t0003 a0026c0038t0002 a0027c0047t0001 a0028c0048t0004 a0029c0050t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(327): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0012g0363 a0001c0001t0012g0364 a0001c0001t0012g0365 a0001c0001t0014g0045 a0001c0001t0014g0080 a0001c0001t0018g0151 a0001c0001t0018g0152 a0001c0001t0019g0190 a0001c0001t0029g0170 a0001c0001t0030g0205 a0001c0001t0032g0100 a0001c0001t0033g0008 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0262 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0002g0358 a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0004g0327 a0001c0002t0016g0265 a0001c0002t0016g0266 a0001c0002t0020g0304 a0001c0002t0023g0336 a0001c0002t0025g0344 a0001c0002t0026g0001 a0001c0004t0001g0005 a0001c0004t0001g0049 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0096 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0145 a0001c0004t0003g0153 a0001c0004t0027g0362 a0001c0005t0001g0017 a0001c0005t0001g0019 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0109 a0001c0009t0003g0180 a0001c0009t0010g0308 a0001c0009t0010g0309 a0001c0009t0010g0310 a0001c0009t0010g0311 a0001c0009t0010g0312 a0001c0009t0010g0313 a0001c0011t0002g0291 a0001c0011t0002g0314 a0001c0011t0002g0324 a0001c0011t0006g0025 a0001c0011t0028g0316 a0001c0017t0001g0005 a0001c0017t0001g0059 a0001c0019t0006g0269 a0001c0019t0006g0282 a0001c0021t0002g0342 a0001c0021t0004g0328 a0001c0023t0001g0091 a0001c0023t0001g0150 a0001c0029t0002g0349 a0001c0032t0002g0353 a0001c0033t0002g0004 a0001c0046t0014g0028 a0002c0003t0004g0011 a0002c0003t0004g0022 a0002c0003t0004g0222 a0002c0003t0004g0224 a0002c0003t0004g0229 a0002c0003t0004g0230 a0002c0003t0004g0235 a0002c0003t0004g0236 a0002c0003t0004g0237 a0002c0003t0004g0238 a0002c0003t0004g0239 a0002c0003t0004g0240 a0002c0003t0004g0241 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0004g0245 a0002c0003t0004g0246 a0002c0003t0004g0247 a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0250 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253 a0002c0003t0004g0254 a0002c0003t0004g0255 a0002c0003t0004g0256 a0002c0003t0004g0305 a0002c0003t0004g0306 a0002c0003t0024g0233 a0002c0018t0004g0225 a0002c0018t0004g0226 a0002c0018t0004g0227 a0002c0026t0002g0023 a0002c0049t0004g0223 a0003c0006t0001g0089 a0003c0006t0001g0102 a0003c0006t0002g0261 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0193 a0003c0006t0003g0194 a0003c0006t0003g0213 a0003c0006t0003g0221 a0004c0008t0002g0270 a0004c0008t0002g0271 a0004c0008t0002g0290 a0004c0008t0002g0317 a0004c0008t0006g0281 a0004c0008t0006g0303 a0004c0008t0017g0354 a0004c0008t0017g0361 a0004c0036t0002g0346 a0005c0007t0008g0276 a0005c0007t0008g0277 a0005c0007t0008g0278 a0005c0007t0008g0279 a0005c0007t0008g0280 a0005c0007t0008g0284 a0005c0007t0008g0300 a0005c0007t0022g0283 a0007c0012t0001g0009 a0007c0012t0001g0115 a0007c0012t0001g0131 a0008c0014t0004g0257 a0008c0014t0004g0258 a0008c0014t0004g0259 a0008c0014t0004g0260 a0009c0013t0002g0285 a0009c0013t0002g0286 a0009c0013t0002g0287 a0009c0013t0002g0288 a0010c0015t0002g0001 a0010c0015t0002g0335 a0011c0035t0021g0267 a0011c0043t0001g0130 a0012c0025t0003g0195 a0012c0025t0003g0196 a0013c0020t0002g0318 a0013c0020t0006g0302 a0014c0027t0004g0231 a0014c0027t0004g0232 a0015c0022t0001g0002 a0016c0028t0008g0268 a0017c0051t0001g0104 a0018c0030t0006g0301 a0019c0041t0003g0160 a0021c0040t0003g0174 a0023c0042t0001g0046 a0024c0037t0006g0307 a0025c0045t0003g0192 a0026c0038t0002g0350 a0027c0047t0001g0053 a0028c0048t0004g0244 a0029c0050t0004g0234	388	434	0.8940	41	c.45 others(52): Show c.4558_*4559insACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACC TGGCTGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding		4138		chr1	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	414	0.0024	41	c.-20 others(50): Show c.-209_-208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SASH1_chr6_148337838_148557044	148387612	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0167 a0002c0002t0028g0167	1	322	0.0031	41	c.157 others(58): Show c.157-2520_157-2519insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387616	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03579.hp2 HG00597.hp2 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0035 a0003c0006 a0002c0035 a0003c0006	a0002c0035t0011 a0003c0006t0002 a0002c0035t0011 a0003c0006t0002	a0002c0035t0011g0119 a0003c0006t0002g0075 a0002c0035t0011g0119 a0003c0006t0002g0075	2	322	0.0062	41	c.157 others(58): Show c.157-2516_157-2515insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387616	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	322	0.0031	41	c.157 others(58): Show c.157-2516_157-2515insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387624	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0084 a0003c0006t0001g0084	1	322	0.0031	41	c.157 others(58): Show c.157-2508_157-2507insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148549134	C C	CAATCAGC others(34): Show CAATCAGCTTTTATTTGCCTTAATATAAGCTTTTAAGCAGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0167 a0002c0002t0028g0167	1	322	0.0031	41	c.57 others(50): Show c.578_*618dupATCAGCTTTTATTTGCCTTAATATAAGCTTTTAAGC AGTTA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	20/20	619	INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(34): Show ATATATATATATAATATATATATATAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	330	0.0030	41	c.-28 others(52): Show c.-2850_-2849insTATATATATATAATATATATATATAATATATATA TATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(34): Show ATATATATATTATATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	41	c.-28 others(52): Show c.-2850_-2849insTATATATATTATATATATATATATATAATATATA TATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp2 HG01256.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0219 a0001c0001t0004g0216 a0001c0001t0004g0219	2	224	0.0089	41	c.56- others(56): Show c.56-2880_56-2879insAAAAAAAAAAATATATATATATATATATAT ATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0169 a0004c0010t0001g0183 a0004c0010t0001g0169 a0004c0010t0001g0183	2	224	0.0089	41	c.56- others(56): Show c.56-2880_56-2879insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123296365	T T	TTTTAAGC others(34): Show TTTTAAGCTCCACAAACATGCAAATATCATCTTTGTCATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00642.hp2 others(64): Show HG00280.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01943.hp2 HG01952.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0001c0011 others(2): Show a0001c0002 a0001c0006 a0001c0011 a0001c0014 a0003c0007	a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 others(24): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0085 a0001c0002t0086 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0006t0010 a0001c0006t0011 a0001c0006t0035 a0001c0006t0037 a0001c0006t0038 a0001c0006t0040 a0001c0011t0003 a0001c0014t0036 a0003c0007t0008 a0003c0007t0039 a0003c0007t0041 a0003c0007t0042	a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 others(64): Show a0001c0002t0003g0219 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0009g0241 a0001c0002t0009g0242 a0001c0002t0009g0243 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0253 a0001c0002t0021g0244 a0001c0002t0021g0250 a0001c0002t0021g0254 a0001c0002t0022g0230 a0001c0002t0022g0255 a0001c0002t0022g0256 a0001c0002t0034g0217 a0001c0002t0034g0218 a0001c0002t0085g0209 a0001c0002t0086g0220 a0001c0002t0088g0239 a0001c0002t0089g0247 a0001c0002t0090g0222 a0001c0002t0091g0223 a0001c0002t0092g0226 a0001c0002t0093g0245 a0001c0002t0094g0240 a0001c0002t0095g0260 a0001c0006t0010g0007 a0001c0006t0010g0009 a0001c0006t0010g0011 a0001c0006t0010g0013 a0001c0006t0010g0014 a0001c0006t0011g0002 a0001c0006t0011g0003 a0001c0006t0011g0004 a0001c0006t0011g0023 a0001c0006t0035g0012 a0001c0006t0037g0006 a0001c0006t0038g0010 a0001c0006t0040g0022 a0001c0011t0003g0234 a0001c0011t0003g0235 a0001c0014t0036g0008 a0003c0007t0008g0001 a0003c0007t0008g0016 a0003c0007t0008g0017 a0003c0007t0008g0018 a0003c0007t0008g0020 a0003c0007t0008g0021 a0003c0007t0039g0005 a0003c0007t0041g0019 a0003c0007t0042g0015	67	260	0.2577	41	c.404 others(58): Show c.4040-316_4040-315insTACATGACAAAGATGATATTTGCATGTT TGTGGAGCTTAAA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1165666	C C	CAGACCCC others(34): Show CAGACCCCAGTACCCAGATCCCAGACCCCAGATCGCAGATCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0152 a0000c0009t0001g0152	1	203	0.0049	41	c.-12 others(60): Show c.-127+8505_-127+8506insAGATCTGCGATCTGGGGTCTGGGATC TGGGTACTGGGGTCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1165666	C C	CCAGACCC others(34): Show CCAGACCCAGTACCCAGATCCCAGACCCCAGATCGCAGATCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	203	0.0049	41	c.-12 others(60): Show c.-127+8505_-127+8506insAGATCTGCGATCTGGGGTCTGGGATC TGGGTACTGGGTCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	306	0.0033	41	c.98+ others(58): Show c.98+36510_98+36511insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430089	T T	TTATAAAT others(34): Show TTATAAATACAGTATTTATAAATACAGTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0138 a0001c0001t0025g0138	1	332	0.0030	41	c.632 others(58): Show c.632+8132_632+8133insAAATACAGTATTTATAAATACAGTATTT ATAAATACAGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460766	T T	TTCCTTCC others(34): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01243.hp2 others(3): Show HG00733.hp1 HG01109.hp1 HG01243.hp2 HG02559.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 others(3): Show a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0263 a0001c0001t0005g0264	6	332	0.0181	41	c.852 others(58): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(34): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01993.hp2 NA18960.hp2 HG00323.hp2 HG01993.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0127	3	370	0.0081	41	c.-47 others(52): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(34): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(62): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01934.hp1 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18965.hp1 NA18969.hp1 NA18974.hp1 NA18983.hp2 NA18995.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0006 a0002c0008 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0004 a0001c0007t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0003 a0004c0012t0001	a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0080 others(61): Show a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0244 a0001c0001t0002g0316 a0001c0001t0003g0068 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0246 a0001c0001t0006g0024 a0001c0002t0001g0001 a0001c0002t0001g0049 a0001c0002t0001g0085 a0001c0002t0001g0101 a0001c0002t0001g0177 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0248 a0001c0002t0001g0252 a0001c0002t0001g0284 a0001c0002t0001g0291 a0001c0002t0002g0073 a0001c0002t0002g0088 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0083 a0001c0002t0003g0091 a0001c0002t0003g0153 a0001c0002t0005g0336 a0001c0002t0005g0337 a0001c0002t0005g0338 a0001c0002t0024g0265 a0001c0003t0001g0098 a0001c0003t0002g0069 a0001c0003t0002g0093 a0001c0003t0002g0095 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0002g0110 a0001c0003t0007g0245 a0001c0004t0001g0099 a0001c0004t0001g0102 a0001c0004t0001g0181 a0001c0004t0004g0195 a0001c0004t0004g0218 a0001c0007t0001g0090 a0002c0006t0001g0002 a0002c0006t0001g0013 a0002c0008t0001g0009 a0002c0008t0003g0015 a0004c0012t0001g0113 a0004c0012t0001g0179	65	356	0.1826	41	c.127 others(60): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839675	C C	CGCACCCT others(34): Show CGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03453.hp1 others(1): Show HG02615.hp1 HG03195.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0016t0001	a0001c0001t0001g0019 a0001c0001t0003g0021 a0001c0001t0025g0180 others(1): Show a0001c0001t0001g0019 a0001c0001t0003g0021 a0001c0001t0025g0180 a0001c0016t0001g0020	4	356	0.0112	41	c.127 others(60): Show c.127-21969_127-21968insAGAGAAATCGGGGCCCATGTGTGCTG TTGGGGTGAGGGTGC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839692	G G	GGCACACA others(34): Show GGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01106.hp2 others(5): Show HG00738.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG02683.hp1 HG02738.hp1 HG03490.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0018 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0175 others(5): Show a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0018g0071 a0001c0002t0001g0151 a0001c0002t0001g0178 a0001c0003t0002g0173	8	356	0.0225	41	c.127 others(60): Show c.127-21986_127-21985insTGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840007	C C	CACTCACC others(34): Show CACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	356	0.0028	41	c.127 others(60): Show c.127-22301_127-22300insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(34): Show CACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01099.hp1 others(50): Show HG00609.hp2 HG00621.hp2 HG01099.hp1 HG01123.hp1 HG01243.hp1 HG01358.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03195.hp2 HG03654.hp1 HG03669.hp2 HG06807.hp2 NA18944.hp1 NA18953.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18985.hp2 NA18992.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0013 a0001c0004t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0010 a0002c0008t0009	a0001c0001t0001g0072 a0001c0001t0001g0270 a0001c0001t0001g0272 others(50): Show a0001c0001t0001g0072 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0283 a0001c0001t0002g0297 a0001c0001t0002g0309 a0001c0001t0002g0335 a0001c0001t0003g0029 a0001c0001t0003g0289 a0001c0001t0004g0121 a0001c0001t0004g0301 a0001c0001t0008g0027 a0001c0001t0016g0240 a0001c0002t0001g0164 a0001c0002t0001g0168 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0003g0122 a0001c0002t0003g0163 a0001c0002t0007g0295 a0001c0002t0021g0325 a0001c0003t0001g0290 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0311 a0001c0003t0002g0231 a0001c0003t0002g0261 a0001c0003t0002g0293 a0001c0003t0002g0303 a0001c0003t0002g0304 a0001c0003t0002g0319 a0001c0003t0007g0082 a0001c0003t0010g0288 a0001c0003t0013g0277 a0001c0003t0013g0312 a0001c0003t0013g0339 a0001c0004t0001g0275 a0001c0004t0001g0281 a0001c0005t0003g0349 a0001c0005t0003g0351 a0001c0005t0003g0355 a0001c0005t0004g0347 a0001c0007t0010g0156 a0002c0008t0009g0016	53	356	0.1489	41	c.127 others(60): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(34): Show CACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	356	0.0028	41	c.127 others(60): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19065.hp1 NA18995.hp1 NA19065.hp1	a0003 a0034 a0003 a0034	a0003c0007 a0034c0033 a0003c0007 a0034c0033	a0003c0007t0003 a0034c0033t0003 a0003c0007t0003 a0034c0033t0003	a0003c0007t0003g0103 a0034c0033t0003g0096 a0003c0007t0003g0103 a0034c0033t0003g0096	2	434	0.0046	41	c.196 others(58): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0105 a0003c0007t0003g0105	1	434	0.0023	41	c.196 others(58): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(34): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG01891.hp1 others(17): Show HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA18987.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0005	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0118 others(17): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0345 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0005g0115 a0001c0003t0005g0320 a0001c0003t0005g0329	20	386	0.0518	41	c.283 others(58): Show c.283+1916_283+1917insAAAAAAAAAAAAAAAAAAAAAAAAGAAG TTACCACCTCAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18964.hp2 HG02135.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0034 a0001c0001t0021 a0001c0001t0034	a0001c0001t0021g0033 a0001c0001t0034g0032 a0001c0001t0021g0033 a0001c0001t0034g0032	2	372	0.0054	41	c.354 others(56): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(34): Show TTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	41	c.464 others(54): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGG TGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRIB_chr8_143785925_143820773	143808288	C C	CACTGAGA others(34): Show CACTGAGACCAACGCCAGGGCAGGCCTGGGGTCCAAGCATGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0232 a0002c0008t0001g0232	1	387	0.0026	41	c.211 others(58): Show c.2115+280_2115+320dupCCATGCTTGGACCCCAGGCCTGCCCTGG CGTTGGTCTCAGT	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	15/36			chr8	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0204 a0003c0003t0005g0204	1	358	0.0028	41	c.120 others(58): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262838	G G	GCCCCCCC others(34): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	440	0.0023	41	c.-37 others(52): Show c.-3776_-3775insCCCCCCCCCCCACCCCTCACCTGCAGGGTACACC GCCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3614		chr8	TogoVar
SDC1_chr2_20195797_20230130	20204295	C C	CAGGACCA others(34): Show CAGGACCAGAAGCAGAGTGTGTTGGGGAGGTGGGGGGTGGGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp1 HG01257.hp1 others(1): Show HG00280.hp1 HG00408.hp1 HG01257.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0036	a0001c0001t0002g0215 a0001c0001t0003g0142 a0001c0001t0009g0308 others(1): Show a0001c0001t0002g0215 a0001c0001t0003g0142 a0001c0001t0009g0308 a0001c0001t0036g0307	4	412	0.0097	41	c.149 others(53): Show c.149-45_149-5dupCCCCACCCCCCACCTCCCCAACACACTCTGCTT CTGGTCCT	SDC1	ENSG00000115884.11	transcript	ENST00000254351.9	protein_coding	2/4			chr2	TogoVar

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Search Results (Total: 2600 hits)