Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	412	0.0024	21	c.889 others(36): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAA		SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINF1_chr17_1757060_1782565	1766567	T T	TAAAATAT others(14): Show TAAAATATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp2 NA21309.hp2 HG02717.hp2 HG06807.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0192 a0001c0001t0001g0237 a0008c0012t0001g0240 a0001c0001t0001g0192 a0001c0001t0001g0237 a0008c0012t0001g0240	3	444	0.0068	21	c.-8- others(34): Show c.-8-335_-8-334insAAATATAAATAAATAAATAAA		SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERTAD3_chr19_40435844_40449335	40439077	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03516.hp1 HG02145.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	3	378	0.0079	21	c.24 others(32): Show c.2412_*2413insAAAAAAAAAAAAAAAAAAAAA		SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding					1766		chr19	TogoVar
SERTM1_chr13_36669020_36702839	36697306	C C	CATAATAT others(14): Show CATAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0105 a0001c0001t0050g0105	1	438	0.0023	21	c.19 others(32): Show c.1905_*1906insTAATATATATATATATATATA		SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	2/2				1906	INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM2_chrX_111506645_111527399	111516191	T T	TGTATGCC others(14): Show TGTATGCCTCTGTCTTCTCCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA18983.hp1 others(3): Show NA18747.hp1 NA18951.hp1 NA18983.hp1 NA18985.hp1 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0007 a0001c0001t0001g0019	6	259	0.0232	21	c.-78 others(40): Show c.-783-1883_-783-1863dupGTATGCCTCTGTCTTCTCCTC		SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SESTD1_chr2_179096678_179269832	179185734	A A	AATATATA others(14): Show AATATATAATATAGCATATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03492.hp1 HG02698.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0267 a0001c0001t0001g0268	2	274	0.0073	21	c.56- others(36): Show c.56-2547_56-2546insATAATATGCTATATTATATAT		SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17						chr2	TogoVar
SETBP1_chr18_44675888_45073510	44706591	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	140	0.0071	21	c.486 others(38): Show c.486+4774_486+4794dupAAAAAAAAAAAAAAAAAAAAA		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01934.hp2 HG02055.hp1 HG00140.hp1 HG01934.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0010t0007 a0002c0002t0002 a0001c0001t0001 a0001c0010t0007 a0002c0002t0002	a0001c0001t0001g0018 a0001c0010t0007g0113 a0002c0002t0002g0043 a0001c0001t0001g0018 a0001c0010t0007g0113 a0002c0002t0002g0043	3	140	0.0214	21	c.487 others(40): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAA		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0128 a0002c0002t0019g0128	1	140	0.0071	21	c.540 others(40): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAA		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989868	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0139 a0003c0003t0001g0139	1	140	0.0071	21	c.400 others(42): Show c.4000+36547_4000+36567dupAAAAAAAAAAAAAAAAAAAAA		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45013434	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02615.hp2 others(3): Show HG01496.hp1 HG02486.hp1 HG02615.hp2 HG03453.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0003 a0001c0001t0001 a0001c0001t0002 a0001c0012t0003	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0002g0026 a0001c0012t0003g0069	6	140	0.0429	21	c.400 others(42): Show c.4001-25048_4001-25047insCTTTCTTTCTTTCTTTCTTTT		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45063770	G G	GCGGAATC others(14): Show GCGGAATCCCCCGCTGCAGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0042 a0001c0001t0025g0042	1	140	0.0071	21	c.74 others(28): Show c.74_*94dupGGAATCCCCCGCTGCAGGGAC		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	6/6				95	INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp1 NA18949.hp1 HG02896.hp1 HG03579.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0004 a0001c0002t0002 a0001c0005t0004	a0001c0002t0002g0004 a0001c0005t0004g0301 a0001c0005t0004g0304 a0001c0002t0002g0004 a0001c0005t0004g0301 a0001c0005t0004g0304	3	308	0.0097	21	c.709 others(40): Show c.7099-1665_7099-1645dupTTTTTTTTTTTTTTTTTTTTT		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20						chr3	TogoVar
SETD2_chr3_47011436_47169113	47106493	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0118 a0004c0004t0001g0118	1	308	0.0033	21	c.471 others(38): Show c.4716-394_4716-374dupTTTTTTTTTTTTTTTTTTTTT		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	5/20						chr3	TogoVar
SETD3_chr14_99392748_99485859	99403489	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	290	0.0035	21	c.117 others(38): Show c.1177+735_1177+736insGAGAGAGAGAGAGAGAGAGAG		SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12						chr14	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp1 HG02280.hp1 others(2): Show HG00673.hp1 HG01952.hp1 HG02280.hp1 NA18956.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0118	5	290	0.0172	21	c.676 others(38): Show c.676-9675_676-9655dupTTTTTTTTTTTTTTTTTTTTT		SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12						chr14	TogoVar
SETD4_chr21_36029541_36065526	36031801	A A	ATGTGTTG others(14): Show ATGTGTTGTGTGGGGACACTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(135): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18966.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0005t0001 a0002c0004t0005 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0002g0186 a0001c0001t0002g0205 a0001c0001t0004g0021 a0001c0001t0004g0199 a0001c0001t0004g0206 a0001c0001t0006g0042 a0001c0001t0006g0190 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0008g0043 a0001c0001t0009g0046 a0001c0001t0012g0213 a0001c0001t0013g0193 a0001c0001t0014g0187 a0001c0001t0016g0217 a0001c0001t0021g0237 a0001c0005t0001g0214 a0002c0004t0005g0023 a0002c0004t0005g0236 a0003c0007t0001g0215	138	398	0.3467	21	c.41 others(32): Show c.4191_*4192insCCAGTGTCCCCACACAACACA		SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding					2739		chr21	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0175 a0001c0001t0052g0175	1	240	0.0042	21	c.-17 others(40): Show c.-177+8644_-177+8645insAAAAAAAAAAAAAAAAAAAAA		SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9426212	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0027 a0004c0004t0027	a0004c0004t0027g0078 a0004c0004t0027g0078	1	240	0.0042	21	c.-11 others(40): Show c.-117+1686_-117+1687insTTTTTTTTTTTTTTTTTTTTT		SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22						chr3	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	426	0.0024	21	c.-15 others(32): Show c.-1577_-1576insTTTTTTTTTTTTTTTTTTTTT		SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding					1526		chr5	TogoVar
SETDB2_chr13_49439274_49500003	49442815	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0243 a0001c0002t0007g0243	1	406	0.0025	21	c.-23 others(32): Show c.-2384_-2383insAAAAAAAAAAAAAAAAAAAAC		SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding					1458		chr13	TogoVar
SETX_chr9_132256356_132359986	132302356	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0022 a0021c0025t0022	a0021c0025t0022g0149 a0021c0025t0022g0149	1	362	0.0028	21	c.537 others(40): Show c.5375-1574_5375-1554dupTTTTTTTTTTTTTTTTTTTTT		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	11/25						chr9	TogoVar
SETX_chr9_132256356_132359986	132346193	A A	AAGCCTAA others(14): Show AAGCCTAAATTCTTATGATACT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0257 a0001c0001t0017g0257	1	362	0.0028	21	c.388 others(34): Show c.388+67_388+68insAGTATCATAAGAATTTAGGCT		SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	4/25						chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(14): Show AAGAAAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp2 HG03486.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0029 a0002c0002t0001 a0003c0004t0029	a0002c0002t0001g0021 a0003c0004t0029g0098 a0002c0002t0001g0021 a0003c0004t0029g0098	2	240	0.0083	21	c.240 others(38): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAGAAAGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(14): Show AAGAAAGAGAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	240	0.0042	21	c.240 others(38): Show c.2407+734_2407+735insGAAAGAGAAGAGAAAGAAAGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348647	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0001 a0009c0032t0001	a0009c0032t0001g0178 a0009c0032t0001g0178	1	240	0.0042	21	c.240 others(38): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGAAAG		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16						chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348831	G G	GGGAGGGA others(14): Show GGGAGGGAAGGGGAGGGAAGGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03225.hp2 HG00621.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0131 a0002c0002t0001g0003 a0001c0001t0002g0131 a0002c0002t0001g0003	2	240	0.0083	21	c.240 others(38): Show c.2407+919_2407+920insGAGGGAAGGGGAGGGAAGGTG		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348838	A A	AGGGGAGG others(14): Show AGGGGAGGGAAGGTGAGGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	240	0.0042	21	c.240 others(38): Show c.2407+931_2407+932insGGAAGGTGAGGGAAGGGGGAG		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01993.hp1 HG02897.hp1 others(4): Show HG01258.hp2 HG01993.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0036 a0002c0002 others(2): Show a0001c0006 a0001c0036 a0002c0002 a0002c0005 a0002c0012	a0001c0006t0004 a0001c0036t0015 a0002c0002t0004 others(3): Show a0001c0006t0004 a0001c0036t0015 a0002c0002t0004 a0002c0002t0010 a0002c0005t0004 a0002c0012t0004	a0001c0006t0004g0236 a0001c0036t0015g0226 a0002c0002t0004g0074 others(4): Show a0001c0006t0004g0236 a0001c0036t0015g0226 a0002c0002t0004g0074 a0002c0002t0004g0228 a0002c0002t0010g0234 a0002c0005t0004g0184 a0002c0012t0004g0149	7	240	0.0292	21	c.279 others(40): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369354	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG01167.hp2 HG02723.hp2 HG02818.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0007 a0001c0003t0007 a0001c0006t0007 others(1): Show a0001c0001t0007 a0001c0003t0007 a0001c0006t0007 a0002c0005t0007	a0001c0001t0007g0025 a0001c0003t0007g0186 a0001c0006t0007g0015 others(1): Show a0001c0001t0007g0025 a0001c0003t0007g0186 a0001c0006t0007g0015 a0002c0005t0007g0147	4	240	0.0167	21	c.279 others(40): Show c.2794+3791_2794+3792insTTTTTTTTTTTTTTTTTATTT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A2_chr19_2231824_2253655	2248153	T T	TGGAGTCC others(14): Show TGGAGTCCACCCTCCAGCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00738.hp2 HG01074.hp1 others(16): Show HG00408.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01943.hp1 HG02015.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG03453.hp1 HG03654.hp1 HG04199.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0011 a0002c0003 a0008c0011	a0002c0003t0001 a0008c0011t0001 a0002c0003t0001 a0008c0011t0001	a0002c0003t0001g0001 a0002c0003t0001g0014 a0002c0003t0001g0029 others(10): Show a0002c0003t0001g0001 a0002c0003t0001g0014 a0002c0003t0001g0029 a0002c0003t0001g0069 a0002c0003t0001g0081 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0105 a0002c0003t0001g0122 a0002c0003t0001g0140 a0002c0003t0001g0159 a0002c0003t0001g0185 a0008c0011t0001g0001	19	420	0.0452	21	c.100 others(30): Show c.1005_1025dupAGTCCACCCTCCAGCCCCCGG	p.Gly others(34): Show p.Gly342_Val343insValHisProProAlaProGly	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding	9/9	1141/1619	1026/1395	342/464		INFO_REALIGN_3_PRIME	chr19	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG02071.hp2 others(18): Show HG00673.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02965.hp1 HG03453.hp1 NA18522.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp2 NA18973.hp2 NA18984.hp1 NA18993.hp1 NA19011.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0028 a0001c0002t0004	a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0003g0211 others(18): Show a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0003g0211 a0001c0001t0004g0142 a0001c0001t0004g0163 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0231 a0001c0001t0004g0311 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0324 a0001c0001t0007g0195 a0001c0001t0007g0201 a0001c0001t0007g0310 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0322 a0001c0001t0010g0025 a0001c0001t0028g0312 a0001c0002t0004g0282	21	400	0.0525	21	c.468 others(36): Show c.468+562_468+582dupTTTTTTTTTTTTTTTTTTTTT		SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16						chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	344	0.0029	21	c.495 others(36): Show c.495+254_495+274dupTTTTTTTTTTTTTTTTTTTTT		SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24						chr2	TogoVar
SF3B3_chr16_70518816_70582668	70535987	A A	AACAAGGA others(14): Show AACAAGGACATTTTCCTACATT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	342	0.0029	21	c.825 others(36): Show c.825+570_825+590dupAAGGACATTTTCCTACATTAC		SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01361.hp1 HG00544.hp2 HG00609.hp2 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0006t0001g0012 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0006t0001g0012	3	322	0.0093	21	c.124 others(40): Show c.1249-1638_1249-1637insATATATATATATATATATTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	322	0.0031	21	c.124 others(40): Show c.1249-1638_1249-1637insATATATATATATATATTTTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	322	0.0031	21	c.124 others(40): Show c.1249-1638_1249-1637insATATATATATATATTTTTTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0001 a0023c0032t0001	a0023c0032t0001g0153 a0023c0032t0001g0153	1	322	0.0031	21	c.124 others(40): Show c.1249-1638_1249-1637insATATATATATTTTTTTTTTTT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612390	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	322	0.0031	21	c.249 others(38): Show c.2490+550_2490+551insTATATATATATATATATATAT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32						chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18948.hp1 NA19060.hp1 HG02083.hp2 NA18948.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0117 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0117	3	322	0.0093	21	c.249 others(38): Show c.2490+552_2490+553insTATATATATATATATATATAT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32						chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19089.hp2 NA19005.hp2 NA19089.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0022 a0002c0002 a0018c0022	a0002c0002t0001 a0018c0022t0001 a0002c0002t0001 a0018c0022t0001	a0002c0002t0001g0086 a0018c0022t0001g0072 a0002c0002t0001g0086 a0018c0022t0001g0072	2	322	0.0062	21	c.249 others(38): Show c.2490+554_2490+555insTATATATATATATATATATAT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32						chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03927.hp1 NA19085.hp2 HG02683.hp1 HG03927.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0239	3	328	0.0092	21	c.124 others(38): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(14): Show TAAAAAAAAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	328	0.0031	21	c.124 others(38): Show c.124-1544_124-1543insTTTTTTTTTTGTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53006628	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG03139.hp2 others(5): Show HG02622.hp1 HG02922.hp2 HG03139.hp2 HG03516.hp1 HG03942.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0289 a0001c0001t0002g0168	8	328	0.0244	21	c.-13 others(42): Show c.-130-37371_-130-37370insTTTTTTTTTTTTTTTTTTTTT		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20						chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp2 NA18966.hp2 others(1): Show HG00558.hp2 HG01256.hp2 NA18966.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0002g0032 a0001c0001t0003g0049	4	328	0.0122	21	c.-13 others(40): Show c.-131+4827_-131+4847dupAAAAAAAAAAAAAAAAAAAAA		SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20						chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7315038	G G	GAGAAAGA others(14): Show GAGAAAGAAAGAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	144	0.0069	21	c.437 others(40): Show c.437-29085_437-29084insTTCTTTCTTTTCTTTCTTTCT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	4/20						chr10	TogoVar
SFRP1_chr8_41256962_41314473	41284377	C C	CCCCTCCC others(14): Show CCCCTCCCACATTGCTGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG02615.hp1 others(13): Show HG00099.hp2 HG00323.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG03453.hp2 HG03516.hp1 NA18944.hp2 NA18951.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18997.hp2 NA19002.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0167 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0167 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0003g0005 a0001c0001t0003g0162 a0001c0001t0003g0175 a0001c0001t0016g0016 a0001c0001t0016g0019 a0001c0001t0016g0103 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0363	16	384	0.0417	21	c.623 others(40): Show c.623-18889_623-18888insCCCTCCAGCAATGTGGGAGGG		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP2_chr4_153775591_153794083	153789505	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	21	c.-67 others(30): Show c.-671_-670insACACACACACACACACACACA		SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding					423		chr4	TogoVar
SFT2D3_chr2_127696497_127710242	127700138	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	1	386	0.0026	21	c.-13 others(32): Show c.-1391_-1390insTATATATATATATATATATAT		SFT2D3	ENSG00000173349.6	transcript	ENST00000310981.6	protein_coding					1358		chr2	TogoVar
SFTPD_chr10_79932740_79954105	79933422	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	424	0.0024	21	c.44 others(32): Show c.4429_*4430insTAATAATAATAATAATAATAA		SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding					4317		chr10	TogoVar

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