Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	256121	C C	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACATA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAACGTGACTACCCTACGTGCTTCCTATGAGGGGAG CT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	133	0.0075	201	c.439 others(218): Show c.439-8837_439-8836insAGCTCCCCTCATAGGAAGCACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTATGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256179	G G	GAGGGGAG others(194): Show GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTA CCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCGT CCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGG CTTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTA TA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	201	c.439 others(218): Show c.439-8895_439-8894insTATAGGAAGTACGTAGGGTAGTCACGTT CCTAGGGACGGAAAAGGACAGAAGCCGTGCAGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACACCGTGCAGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAG GACAGACGCCGTGCGGCTCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256187	C C	CCGCACGG others(194): Show CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	133	0.0075	201	c.439 others(218): Show c.439-8903_439-8902insACTCCCCTCATAGGAAGTACGTAGGGTA GTCACATTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACGCCGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256272	T T	TTTCCGTC others(194): Show TTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAA TGTGACTACCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	201	c.439 others(218): Show c.439-8988_439-8987insCAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGACGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256288	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA AT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0085 a0005c0010t0003g0085	1	133	0.0075	201	c.439 others(218): Show c.439-9004_439-9003insATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256330	G G	GTCTGTCC others(194): Show GTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTAT GAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTA CCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGT CCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGG CA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0054 a0006c0009t0001g0054	1	133	0.0075	201	c.439 others(218): Show c.439-9046_439-9045insTGCCGTGCGGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACGTTCCTAGGGACGGAACAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGACAGAACAG GACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGT TCCTAGGGATGGAAAAGGACAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256623	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCC TTTTCCGTCCCTAGGAACGTAACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA AT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0117 a0004c0007t0007g0117	1	133	0.0075	201	c.439 others(218): Show c.439-9339_439-9338insATTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTTACGTTCCTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256690	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG TCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGC ACTTCCTATGAGGGGAGCTGCACGGCATCTGTCCTTTTCCATCCCTAGGA AT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	201	c.439 others(218): Show c.439-9406_439-9405insATTCCTAGGGATGGAAAAGGACAGATGC CGTGCAGCTCCCCTCATAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCCTCA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256731	C C	CTTCTGTC others(194): Show CTTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACT ACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACG GT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	133	0.0075	201	c.439 others(218): Show c.439-9447_439-9446insACCGTGCAGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCT CCCCTCATAGGAAGTACGTTGGGTAGTCACATTCCTAGGGATGGAAAAGG ACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTT CCTAGGGATGGAAAAGGACAGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256891	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGA AT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	133	0.0075	201	c.439 others(218): Show c.439-9607_439-9606insATTCCTAGGGATGGAAAAGGACAGACAC CGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257009	T T	TTTCCATC others(194): Show TTTCCATCCCTAGGAACGTGACTACCCTACATACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	133	0.0075	201	c.439 others(218): Show c.439-9725_439-9724insCAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAACAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTATGTAGGG TAGTCACGTTCCTAGGGATGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257092	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGA AT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	201	c.439 others(218): Show c.439-9808_439-9807insATTCCTAGGGATGGAAAAGGACAGACAC CGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257251	G G	GAGGGGAG others(194): Show GAGGGGAGTCGCACGGCGTCTATCCTTTTCCATCCCTAGGAATGTGACTA CCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCAT CCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGG TGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	201	c.439 others(218): Show c.439-9967_439-9966insTATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAG GATAGACGCCGTGCGACTCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257260	C C	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAG CT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp2 HG02723.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0089 a0001c0001t0001g0104	2	133	0.0150	201	c.439 others(218): Show c.439-9976_439-9975insAGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACA CCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257308	T T	TACTTCCT others(194): Show TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGG AATGTGACTACCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTAC GC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	133	0.0075	201	c.439 others(220): Show c.439-10024_439-10023insGCGTAGGGTAGTCACATTCCTAGGGA CAGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257750	C C	CGTCCCTA others(194): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTT CT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	201	c.439 others(220): Show c.439-10466_439-10465insAGAACAGGACAGACACCGTGCGGCTC CCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGA CAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTC CTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCACATTCCTAGGGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257822	C C	CTAGGAAC others(194): Show CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTAC CCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATC CG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0125 a0002c0005t0023g0125	1	133	0.0075	201	c.439 others(220): Show c.439-10538_439-10537insCGGATGGAAAAGGACAGACGCCGTGC GGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAA AAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA CATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCCTCATAGGA AGTACGTAGGGTAGTCACGTTCCTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257896	T T	TGTGACTA others(194): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCGTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA AC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	201	c.439 others(220): Show c.439-10612_439-10611insGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTACG GATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257921	G G	GAGGGGAG others(194): Show GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTA CCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCAT CCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGG CGTCTGTCCTTTTCCGTCCCTAGGAATGGGACTACCCTACGTACTTCCTA TA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02165.hp2 NA18993.hp2 HG01258.hp1 HG02165.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0014 a0001c0006t0004 a0001c0001t0004 a0001c0001t0014 a0001c0006t0004	a0001c0001t0004g0096 a0001c0001t0014g0106 a0001c0006t0004g0022 a0001c0001t0004g0096 a0001c0001t0014g0106 a0001c0006t0004g0022	3	133	0.0226	201	c.439 others(220): Show c.439-10637_439-10636insTATAGGAAGTACGTAGGGTAGTCCCA TTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAG TACGTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGACGCCGTGCG GCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAA AGGACAGACGCCGTGCGGCTCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665527	G G	TTCCTTTC others(194): Show TTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTCCTTTCCTTTCCTT TCTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCA TG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0133 a0001c0034t0004g0133	1	196	0.0051	201	c.348 others(220): Show c.348+21716_348+21717insTTCCTTTCCTTTCCTTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTCTCCTTTCCTTTCCTTTCTCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTTCAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700736	G G	GTGATGGT others(194): Show GTGATGGTGATGGTAGAGATTATGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTAGAGATGGTGA TGGTGGTGATGATGATGGTCGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGT GA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03041.hp2 others(1): Show HG01884.hp2 HG02723.hp2 HG03041.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0007 a0001c0070 a0002c0063 others(1): Show a0001c0007 a0001c0070 a0002c0063 a0005c0092	a0001c0007t0084 a0001c0070t0020 a0002c0063t0020 others(1): Show a0001c0007t0084 a0001c0070t0020 a0002c0063t0020 a0005c0092t0012	a0001c0007t0084g0007 a0001c0070t0020g0003 a0002c0063t0020g0001 others(1): Show a0001c0007t0084g0007 a0001c0070t0020g0003 a0002c0063t0020g0001 a0005c0092t0012g0163	4	196	0.0204	201	c.349 others(218): Show c.349-7103_349-7102insATGGTGATGGTAGAGATTATGGTGATGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGG AGGTGATGGTGGTGATGGTGATG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(194): Show GGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGGAGAGGAGGGA GGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAA GAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGA AGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAG AA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18971.hp2 NA18979.hp1 others(5): Show NA18950.hp2 NA18971.hp2 NA18979.hp1 NA18995.hp1 NA19058.hp2 NA19064.hp1 NA19072.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0143 a0001c0003t0004g0155 others(4): Show a0001c0003t0004g0012 a0001c0003t0004g0143 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0159 a0001c0003t0004g0174 a0001c0003t0004g0176	8	396	0.0202	201	c.807 others(218): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTC TTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCT CCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCTCCC TCCCTCCTCCTCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUNX1_chr21_34782801_35054302	34849424	G G	GTATATAT others(194): Show GTATATATACTATATATAATATAGTATATATACTATATATAATATATAGT ATATATAATATATTATATATAGTATATATTATATATAGTATAATATATAA TATATATTATATATAGTATATATAATATATTATATATAGTATAATATATA ATATATAGTATATATATAATATATTATATATAGTATAATATATAATATAT AT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 NA21309.hp2 HG02622.hp1 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0007 a0001c0001t0001 a0001c0001t0007 a0001c0002t0007	a0001c0001t0001g0143 a0001c0001t0007g0038 a0001c0002t0007g0167 a0001c0001t0001g0143 a0001c0001t0007g0038 a0001c0002t0007g0167	3	170	0.0177	201	c.613 others(220): Show c.613+10049_613+10050insATATATATTATATATTATACTATATA TAATATATTATATATATACTATATATTATATATTATACTATATATAATAT ATTATATATACTATATATAATATATATTATATATTATACTATATATAATA TATACTATATATAATATATTATATATACTATATATTATATATAGTATATA TACTATATTATATATAGTATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCCC others(194): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCGCTCTCCCTCTCGCT CTCCGTCTCCCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCGTCTCCCTCT CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	201	c.49 others(212): Show c.4914_*4915insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC GCTCTCCCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCGTCTCCCTCTCGC TCTCCGTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCIN_chr7_12565720_12665182	12595609	G G	GGAAAGAC others(194): Show GGAAAGACAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0178 a0009c0011t0178	a0009c0011t0178g0354 a0009c0011t0178g0354	1	372	0.0027	201	c.517 others(218): Show c.517-8891_517-8890insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTGAAAGACAACTCTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(194): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGGAG GG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	302	0.0033	201	c.75- others(216): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG AGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2384033	C C	CAATAAAA others(194): Show CAATAAAATGACCAAAAATAAATAAAAAATAAAAATAAATAAAAAAATAA ATAAAAATAAATAAAAAATACTATATAATAAAATAAAATATAAATAAACT TAATACATTAAAATAAAAACTATAAAAATAAAATAATCAAAAAATAAAAC ATAATAAAAATAAATAAAAATAAAAATAAATACATAAAATAAAAATAAAA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0368 a0012c0023t0001g0368	1	422	0.0024	201	c.45 others(212): Show c.4513_*4514insAATAAAATGACCAAAAATAAATAAAAAATAAAAA TAAATAAAAAAATAAATAAAAATAAATAAAAAATACTATATAATAAAATA AAATATAAATAAACTTAATACATTAAAATAAAAACTATAAAAATAAAATA ATCAAAAAATAAAACATAATAAAAATAAATAAAAATAAAAATAAATACAT AAAATAAAAATAAAAAT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding		2980		chr17	TogoVar
SH3RF1_chr4_169089259_169275956	169146085	C C	CTATATAA others(194): Show CTATATAAAATATATATTCTATATATTCTATATAAAATATATATTCTATA TATTCTATATAAAATATATATTCTATATATTCTATATAAAATATATATTC TATATATTCTATATAAAATATATATTCTATATATTCTATATAAAATATAT ATTCTATATATTCTATATAAAATATATATTCTATATATTCTATATAAAAT AT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0021 a0001c0002t0019g0021	1	216	0.0046	201	c.765 others(218): Show c.765+9394_765+9395insATATTTTATATAGAATATATAGAATATA TATTTTATATAGAATATATAGAATATATATTTTATATAGAATATATAGAA TATATATTTTATATAGAATATATAGAATATATATTTTATATAGAATATAT AGAATATATATTTTATATAGAATATATAGAATATATATTTTATATAGAAT ATATAGAATATATATTTTATATA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(194): Show GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0157 a0002c0002t0034g0157	1	172	0.0058	201	c.573 others(220): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(194): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT GA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 NA20805.hp2 HG00140.hp1 HG01175.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0001 a0001c0021t0006 a0001c0002t0001 a0001c0021t0006	a0001c0002t0001g0189 a0001c0002t0001g0209 a0001c0021t0006g0102 a0001c0002t0001g0189 a0001c0002t0001g0209 a0001c0021t0006g0102	3	316	0.0095	201	c.257 others(220): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCC CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT GCTTGTAACCCTGACCCCTTCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401214	C C	CCCCGCTC others(194): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	242	0.0041	201	c.46 others(212): Show c.4681_*4682insTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCG GGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4501		chr11	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(194): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	242	0.0041	201	c.45 others(212): Show c.4574_*4575insGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGT GAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGIRR_chr11_400716_419999	411272	G G	GGGGGGGT others(194): Show GGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGG GGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGT CTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAG TC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	242	0.0041	201	c.-15 others(220): Show c.-153-1246_-153-1245insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(194): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GGTACCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGT CTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAG TC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0121 a0003c0007t0001g0121	1	242	0.0041	201	c.-15 others(220): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGTACCCCCCCCCCCCGACTGTATCCAGAC ATGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(194): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAGC TCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGT CTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAG TC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	242	0.0041	201	c.-15 others(220): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGAC ATGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC9A8_chr20_49807828_49897242	49834437	A A	ATATATAT others(194): Show ATATATATATATACACACTGTATATATAGTGTGTGTATATACATATACTG TGTGTATATATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACAT AGTGTGTGTGTATATATACAGTATATATATATACACAGTATATATATATA CAGTATATATATATACACAGTATATATATATACAGTATATATATATACAC AG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19005.hp1 NA18983.hp2 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0348 a0001c0002t0001g0349	2	360	0.0056	201	c.290 others(218): Show c.290-5091_290-5090insACACTGTATATATAGTGTGTGTATATAC ATATACTGTGTGTATATATAGTGCATATAGTGCGTATATACAGTGTGTGT ATATACATAGTGTGTGTGTATATATACAGTATATATATATACACAGTATA TATATATACAGTATATATATATACACAGTATATATATATACAGTATATAT ATATACACAGTATATATATATAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(194): Show CATATTTTATATTATAATATATAATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	340	0.0029	201	c.17 others(220): Show c.174+9760_*174+9761insAATATATTATATATTATAAAATATAA TATATATTACATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAATATATAATA TATTATATATTATAATATATAATATATATTATATATTATAATATATAATA TATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	245991751	C C	CCAGAAAT others(194): Show CCAGAAATGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACAC CAACTTACAACTGAACCTCAGAAACGGCCTGCCGTCATTTCTATCATATT CTATTGGCCACACACACCAACTTACAACTGAACCTCAGAAACGGCCTGCC GTCATTTCTATCATATTCTATTGGCCACACACACCAACTTACAACTGAAC CT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	150	0.0067	201	c.532 others(220): Show c.532-61815_532-61814insAGGTTCAGTTGTAAGTTGGTGTGTGT GGCCAATAGAATATGATAGAAATGACGGCAGGCCGTTTCTGAGGTTCAGT TGTAAGTTGGTGTGTGTGGCCAATAGAATATGATAGAAATGACGGCAGGC CGTTTCTGAGGTTCAGTTGTAAGTTGGTGTGTGTGGCCAATAGAATATGA TAGAAATGACGGCAGGCCATTTCTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1301936	C C	CCCATTCC others(194): Show CCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCT ATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTA ATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCA ATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAA CA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19004.hp1 NA19007.hp1 NA18945.hp1 NA19004.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0123 a0001c0002t0001g0157 a0001c0002t0001g0159	3	350	0.0086	201	c.440 others(218): Show c.440+1425_440+1426insACCATTCCCATTAGCAATCACCGCCAAT TTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCAT TAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAA ATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAAT ATTTCTATCACCTCAAAATAAAC	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNTG2_chr2_945849_1372613	1221694	T T	TCTCTAGC others(194): Show TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTG CCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTG TCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTC TC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	190	0.0053	201	c.719 others(220): Show c.719+12464_719+12465insCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCT CTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGT CTCTGTCTCTCTGTCTCTGCCTCTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX18_chr5_54512759_54551586	54513823	A A	ATATATAT others(194): Show ATATATATGATATATATAAATTTATATAATATATAAATATATATGATATA TATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATA ATATATAAATATATATGATATATATAAATTTATATAATATATAAATATAT ATGATATATATAAATTTATATAATATATAAATATATATGATATATATAAA TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01891.hp2 HG00099.hp1 HG01123.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0013 a0001c0015t0010 a0001c0003t0013 a0001c0015t0010	a0001c0003t0013g0032 a0001c0003t0013g0195 a0001c0015t0010g0103 a0001c0003t0013g0032 a0001c0003t0013g0195 a0001c0015t0010g0103	3	390	0.0077	201	c.-41 others(212): Show c.-4130_-4129insTATATATGATATATATAAATTTATATAATATATA AATATATATGATATATATAAATTTATATAATATATAAATATATATGATAT ATATAAATTTATATAATATATAAATATATATGATATATATAAATTTATAT AATATATAAATATATATGATATATATAAATTTATATAATATATAAATATA TATGATATATATAAATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3935		chr5	TogoVar
SORCS2_chr4_7187538_7747827	7724926	G G	GTGGTGGT others(194): Show GTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGATGGTGGAGGTGAT GGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGG TGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTG GTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGAT GA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0070 a0006c0021t0070	a0006c0021t0070g0103 a0006c0021t0070g0103	1	168	0.0060	201	c.261 others(218): Show c.2612-224_2612-223insGGTGATGGTGATGGTGGTGGTGATGGTG GTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGT GATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGG TGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATG GTGGTAGTTATGGTGATGATGGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(194): Show CATATAATATATAATATATATCATATACACATATATGATATATATCATAT ACACATATAATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATGATATAT GATATATATCATATACACATATGATATATGATATATATCATATACACATA TG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	134	0.0075	201	c.627 others(220): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATGATATATATCATATACACATATAATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA13_chr13_24155720_24312069	24190109	T T	TCATTATA others(194): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0007 a0003c0011t0007	a0003c0011t0007g0125 a0003c0011t0007g0125	1	356	0.0028	201	c.-11 others(222): Show c.-112+29177_-112+29178insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0016	1	418	0.0024	201	c.54 others(212): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 NA19057.hp1 HG01256.hp2 HG01258.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	418	0.0072	201	c.54 others(212): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	201	c.54 others(212): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(194): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCC TTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCT CT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	418	0.0024	201	c.54 others(212): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89852486	C C	CTCTCACC others(194): Show CTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCC CCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19005.hp1 NA18949.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0231 a0001c0001t0001g0245	2	356	0.0056	201	c.646 others(218): Show c.646-1800_646-1799insTCTCACCCCCCGGATCCCATGGCCCGTC ATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGAGGC others(194): Show GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0136 a0001c0001t0023g0136	1	422	0.0024	201	c.66 others(212): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCTCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar

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Search Results (Total: 10000 hits)