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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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
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0242 a0001c0001t0047g0242	1	366	0.0027	40	c.-15 others(51): Show c.-1535_-1534insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCGCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(33): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	196	0.0051	40	c.348 others(59): Show c.348+21654_348+21693dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTCTT others(33): Show CTTTTCTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0024 a0001c0046t0024	a0001c0046t0024g0164 a0001c0046t0024g0164	1	196	0.0051	40	c.348 others(59): Show c.348+21521_348+21522insTTTTCTTTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(33): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0031 a0001c0053 a0001c0031 a0001c0053	a0001c0031t0027 a0001c0053t0007 a0001c0031t0027 a0001c0053t0007	a0001c0031t0027g0173 a0001c0053t0007g0122 a0001c0031t0027g0173 a0001c0053t0007g0122	2	196	0.0102	40	c.348 others(59): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0033 a0001c0014t0002g0033	1	196	0.0051	40	c.349 others(59): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18965.hp2 NA18979.hp1 HG02056.hp1 NA18965.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0141 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0141	3	372	0.0081	40	c.445 others(57): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RREB1_chr6_7102961_7256980	7103325	C C	CATATAAC others(33): Show CATATAACATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0015 a0015	a0015c0066 a0015c0066	a0015c0066t0003 a0015c0066t0003	a0015c0066t0003g0276 a0015c0066t0003g0276	1	292	0.0034	40	c.-50 others(51): Show c.-5020_-5019insATATAACATATAATATATAATATTATATATAATA TAATAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4635		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	368	0.0027	40	c.176 others(57): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATATATATTT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	386	0.0026	40	c.685 others(57): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RSPRY1_chr16_57181329_57245469	57201103	C C	CGCTCCTC others(33): Show CGCTCCTCACTTCCCAGGCGGAGTGGCTGCCGGGCGGAGGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	358	0.0028	40	c.-15 others(59): Show c.-155-3388_-155-3349dupCCAGGCGGAGTGGCTGCCGGGCGGAG GGGCTCCTCACTTC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57201137	C C	CGGAGGGG others(33): Show CGGAGGGGCTCCTCACTTCTCAGACGGTGTGGCTGCCAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(57): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp2 HG01255.hp1 HG01515.hp1 HG02015.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 others(56): Show a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0001 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0147 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0006g0129 a0001c0001t0006g0133 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0013g0311 a0001c0001t0013g0319 a0001c0001t0014g0325 a0001c0001t0014g0326 a0001c0001t0016g0131 a0001c0001t0021g0146 a0001c0001t0024g0330	60	358	0.1676	40	c.-15 others(59): Show c.-155-3330_-155-3291dupAGGTGGAGGGGCTCCTCACTTCTCAG ACGGTGTGGCTGCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158117881	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0012g0013 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0012g0013	3	276	0.0109	40	c.-2- others(55): Show c.-2-4191_-2-4190insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp1 NA18982.hp2 others(1): Show HG02615.hp2 HG03225.hp1 NA18982.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0251 a0001c0001t0006g0212 a0001c0001t0007g0182 others(1): Show a0001c0001t0002g0251 a0001c0001t0006g0212 a0001c0001t0007g0182 a0001c0001t0011g0171	4	276	0.0145	40	c.321 others(55): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(33): Show TTTTATATATATATATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	276	0.0036	40	c.321 others(55): Show c.321-509_321-508insTTATATATATATATACATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03098.hp1 HG03579.hp2 others(3): Show HG00609.hp1 HG03098.hp1 HG03579.hp2 HG03831.hp2 HG04204.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0024	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0003g0086 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0003g0086 a0001c0001t0006g0025 a0001c0001t0012g0031 a0001c0001t0024g0223	6	276	0.0217	40	c.321 others(55): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	276	0.0036	40	c.652 others(59): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01516.hp1 HG02129.hp2 others(8): Show HG01255.hp2 HG01516.hp1 HG02129.hp2 HG02647.hp2 HG03130.hp2 HG03491.hp1 HG03654.hp1 NA18950.hp1 NA18956.hp1 NA18982.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0239 others(8): Show a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0006g0026 a0001c0001t0006g0067 a0001c0001t0007g0137 a0001c0001t0007g0182 a0001c0001t0011g0172 a0001c0001t0011g0203	11	276	0.0399	40	c.652 others(59): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTL4_chrX_112078016_112462514	112310867	A A	ATATATAT others(33): Show ATATATATAAAATATATGTATGTATTATTTTTATATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0034 a0003c0004t0001g0034	1	134	0.0075	40	c.-28 others(59): Show c.-285+4359_-285+4398dupTATATGTATGTATTATTTTTATATAT ATGTATATATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112419581	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTACATATGTATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0041 a0003c0004t0001g0116 a0003c0004t0001g0041 a0003c0004t0001g0116	2	134	0.0149	40	c.-28 others(61): Show c.-284-11520_-284-11519insATATATATATATTTACATATGTAT ATGTATATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59606103	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	172	0.0058	40	c.197 others(57): Show c.1974-598_1974-597insATATATATATATATATATATATATATAT ATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp1 NA19240.hp2 HG01496.hp1 HG02280.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0076	3	172	0.0174	40	c.197 others(57): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN4RL2_chr11_57455528_57482534	57481540	A A	ATCCCTCC others(33): Show ATCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	348	0.0029	40	c.46 others(51): Show c.4629_*4630insTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTC CCTCCC	RTN4RL2	ENSG00000186907.8	transcript	ENST00000335099.8	protein_coding		4007		chr11	TogoVar
RTP3_chr3_46492976_46505950	46494728	G G	GTCTGGGA others(33): Show GTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02735.hp1 HG04228.hp1 HG02040.hp2 HG02735.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	426	0.0070	40	c.-33 others(51): Show c.-3335_-3334insTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCC ACCCCA	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3247		chr3	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GGCCCCGC others(33): Show GGCCCCGCCCCCCACCTCCGAGACCCCGCCTCACCTCCGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG03471.hp2 HG02615.hp2 HG02818.hp1 HG03471.hp2	a0012 a0019 a0012 a0019	a0012c0014 a0019c0024 a0012c0014 a0019c0024	a0012c0014t0012 a0019c0024t0027 a0012c0014t0012 a0019c0024t0027	a0012c0014t0012g0015 a0019c0024t0027g0029 a0012c0014t0012g0015 a0019c0024t0027g0029	3	365	0.0082	40	c.15 others(49): Show c.158_*159insACCTCCGAGACCCCGCCTCACCTCCGACGCCCCGCC CCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	159	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GGCCCCGC others(33): Show GGCCCCGCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(211): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0016 a0017 a0022	a0001c0001 a0001c0010 a0001c0020 others(9): Show a0001c0001 a0001c0010 a0001c0020 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0011c0013 a0016c0028 a0017c0027 a0022c0018	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0025 a0001c0010t0009 a0001c0020t0002 a0002c0002t0001 a0002c0002t0010 a0002c0002t0018 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0003c0003t0002 a0003c0003t0039 a0003c0003t0042 a0004c0004t0001 a0004c0004t0010 a0006c0006t0007 a0007c0007t0002 a0011c0013t0001 a0016c0028t0001 a0017c0027t0001 a0022c0018t0040	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(42): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0008g0008 a0001c0001t0009g0001 a0001c0001t0011g0001 a0001c0001t0017g0001 a0001c0001t0017g0007 a0001c0001t0025g0007 a0001c0010t0009g0001 a0001c0010t0009g0021 a0001c0020t0002g0001 a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0018g0002 a0002c0002t0018g0013 a0002c0002t0036g0002 a0002c0002t0037g0002 a0002c0002t0038g0002 a0003c0003t0002g0001 a0003c0003t0002g0010 a0003c0003t0002g0020 a0003c0003t0002g0043 a0003c0003t0039g0001 a0003c0003t0042g0001 a0004c0004t0001g0003 a0004c0004t0001g0016 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0006c0006t0007g0009 a0007c0007t0002g0012 a0011c0013t0001g0003 a0016c0028t0001g0003 a0017c0027t0001g0003 a0022c0018t0040g0001	214	365	0.5863	40	c.17 others(49): Show c.175_*176insTCACCTCCGACGCCCCGCCCCCCGCCTCCGAGACCC CGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	176	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GGCCCCGC others(33): Show GGCCCCGCCCCCCGCCTCCGAGACCCCGCCTCACCTCTGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0015 a0001c0001 a0024c0015	a0001c0001t0019 a0024c0015t0019 a0001c0001t0019 a0024c0015t0019	a0001c0001t0019g0008 a0024c0015t0019g0039 a0001c0001t0019g0008 a0024c0015t0019g0039	2	365	0.0055	40	c.17 others(49): Show c.175_*176insTCACCTCTGACGCCCCGCCCCCCGCCTCCGAGACCC CGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	176	INFO_REALIGN_3_PRIME	chr2	TogoVar
RTP5_chr2_241864729_241878823	241873428	C C	CCCCCACC others(33): Show CCCCCACCTCCGAGACCCCGCCTCACCTCCGACGCCCCGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02109.hp1 others(12): Show HG01109.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 NA20300.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0023 a0001c0025 a0005c0005 a0001c0023 a0001c0025 a0005c0005	a0001c0023t0005 a0001c0025t0005 a0005c0005t0005 others(1): Show a0001c0023t0005 a0001c0025t0005 a0005c0005t0005 a0005c0005t0022	a0001c0023t0005g0022 a0001c0025t0005g0005 a0005c0005t0005g0005 others(1): Show a0001c0023t0005g0022 a0001c0025t0005g0005 a0005c0005t0005g0005 a0005c0005t0022g0005	15	365	0.0411	40	c.15 others(49): Show c.158_*159insACCTCCGAGACCCCGCCTCACCTCCGACGCCCCGCT CCCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	159	INFO_REALIGN_3_PRIME	chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550523	C C	CCCCACCC others(33): Show CCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0364 a0001c0002t0002g0364	1	376	0.0027	40	c.-47 others(47): Show c.-47_-46insCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		30		chr5	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	132	0.0076	40	c.88+ others(57): Show c.88+15411_88+15412insCACACACACACACACATATATATATATA TATATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(33): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0040 a0001c0001t0017g0040	1	132	0.0076	40	c.88+ others(57): Show c.88+15411_88+15412insCACACACACACACACACACACATATATA TATATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	170	0.0059	40	c.59- others(57): Show c.59-37308_59-37307insTATATATATATATATATATATATATATA TACACACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	100	0.0100	40	c.774 others(57): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(33): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	100	0.0100	40	c.102 others(61): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATAGATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33850485	T T	TACTTAGA others(33): Show TACTTAGAGTGGCTTAAACGTCCATGAGTAGGAAATGCATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0022 a0022	a0022c0117 a0022c0117	a0022c0117t0002 a0022c0117t0002	a0022c0117t0002g0123 a0022c0117t0002g0123	1	154	0.0065	40	c.136 others(61): Show c.13628+2066_13628+2105dupCTTAGAGTGGCTTAAACGTCCATG AGTAGGAAATGCATAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	94/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAA1_chr11_18261264_18274967	18264773	A A	AGAGGGGA others(33): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	442	0.0023	40	c.-15 others(51): Show c.-1528_-1527insGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1490		chr11	TogoVar
SAA2_chr11_18240240_18253668	18242362	A A	AGGCAAAT others(33): Show AGGCAAATCTGTCCTTCCTCTATTTTTGTTCTATTCAAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	474	0.0021	40	c.29 others(51): Show c.2975_*3014dupGGCTTGAATAGAACAAAAATAGAGGAAGGACAGA TTTGCC	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		2877		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0136 a0001c0002t0005g0136	1	354	0.0028	40	c.-28 others(51): Show c.-2803_-2802insTATATATATATATATATATATATTTTTTTTTTTT TTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(33): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	354	0.0028	40	c.-28 others(51): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	948661	C C	CCCTGGCT others(33): Show CCCTGGCTGCACCCTGGTCCCCTGGTCCCTTTGGCCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0055 a0001c0004t0012g0055	1	434	0.0023	40	c.45 others(51): Show c.4508_*4509insCCTGGCTGCACCCTGGTCCCCTGGTCCCTTTGGC CCTGCA	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding		4088		chr1	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(33): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(14): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01891.hp2 HG02015.hp2 HG02896.hp1 HG03688.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp2 NA18969.hp2 NA18978.hp1 NA18992.hp2 NA18998.hp2 NA19062.hp2 NA19079.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0104 a0001c0001t0007g0128 a0001c0001t0007g0163 others(14): Show a0001c0001t0007g0104 a0001c0001t0007g0128 a0001c0001t0007g0163 a0001c0001t0007g0165 a0001c0001t0007g0172 a0001c0001t0007g0175 a0001c0001t0007g0183 a0001c0001t0007g0198 a0001c0001t0007g0204 a0001c0001t0007g0215 a0001c0001t0007g0240 a0001c0001t0007g0243 a0001c0001t0007g0332 a0001c0001t0021g0142 a0001c0001t0021g0145 a0001c0001t0021g0151 a0001c0001t0021g0227	17	340	0.0500	40	c.25 others(51): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0244 a0001c0001t0075g0244	1	340	0.0029	40	c.25 others(51): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(33): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	40	c.-89 others(49): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG CGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0237 a0002c0003t0002g0237	1	360	0.0028	40	c.995 others(55): Show c.995-649_995-648insAAAAAAAAAAAAAATATATATATATATATA TATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0236 a0002c0003t0002g0236	1	360	0.0028	40	c.995 others(55): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(33): Show GTGCGCACGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(3): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG01243.hp1 HG01361.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0002c0005t0006 a0002c0010t0003	a0001c0001t0001g0007 a0001c0001t0001g0011 a0002c0002t0003g0196 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0002c0002t0003g0196 a0002c0002t0004g0047 a0002c0005t0006g0302 a0002c0010t0003g0003	6	322	0.0186	40	c.157 others(59): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0195 a0002c0014t0001g0195	1	322	0.0031	40	c.157 others(57): Show c.157-2481_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148411166	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0225 a0001c0001t0034g0225	1	322	0.0031	40	c.285 others(59): Show c.285+20934_285+20935insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421146	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	322	0.0031	40	c.286 others(59): Show c.286-19035_286-19034insGAAGGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	307	0.0033	40	c.300 others(55): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAGAGA others(33): Show AAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	307	0.0033	40	c.300 others(55): Show c.300+537_300+538insGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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