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
ADARB2_chr10_1172313_1742525	1239328	TACTCCCC others(402): Show TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	106	0.0094	-409	c.136 others(19): Show c.1361+2394_1361+2802del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
C19orf12_chr19_29693937_29720261	29719367	ATATATAA others(402): Show ATATATAATTATATATATATAATTTATATATATATAAATATATATATAAA TTATATATATATATAATATATATATTTATATATATAATATACATATTTAT ATATATATTATATATATTTATATATATATTATATTTATATATATTTATAT ATATTATATATATATTATATATATAATATATAAATATATTTATATAATAT AAATATATATATTTATATAATATAAATATATATATTTATATATATATAAA ATATATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATAT AAGTTTGGACAAAGATATAGAATTATATAATATATAATATAATATATCAG TATATATAATTGTACTATTATATAATTATATATAATTATATATATTTATA TATATTAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02257.hp2 HG02809.hp2 others(8): Show HG01256.hp2 HG02257.hp2 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03579.hp1 HG04115.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014	a0001c0001t0004g0104 a0001c0001t0006g0006 a0001c0001t0006g0099 others(4): Show a0001c0001t0004g0104 a0001c0001t0006g0006 a0001c0001t0006g0099 a0001c0001t0007g0033 a0001c0001t0007g0102 a0001c0001t0014g0016 a0001c0001t0014g0097	11	418	0.0263	-409	c.-46 others(11): Show c.-4662_-4254del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4107		chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587745	CCCCCGTG others(402): Show CCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0017 a0005c0026t0001g0017	1	348	0.0029	-409	c.927 others(15): Show c.927+648_928-517del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587782	CCCCCGTG others(402): Show CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0328 a0001c0002t0009g0328	1	348	0.0029	-409	c.927 others(15): Show c.927+685_928-480del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNM1L_chr12_32674301_32750650	32717229	TTATATAT others(402): Show TTATATATATTTTATATATAGTATATATAGTATATATATACTATATATTA TATATACACTATATATTTTATATATACTATATATTATATATACACTATAT ATTTTATATATACTATATATTATATATAGTATATATAATATATATACTAT ATATAATATATAGTATATATAATATATAATATATATTTTAAATATATACT ATATATATTTTAAATATATACTATATATATTTTAAATATATAGTATATAT ATTATATATATATAGTATATATATATATTTTAGACGGAGTCCTGCTCTGC ATAGTGTACAATTTTACCTATGGCATTTTTCAGTTACAAATATATATACC TAGGTAGATATATATATAAAAAATACATATACCTAGGTAGATATATATAT AAAAAATACA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02683.hp2 HG03041.hp1 others(5): Show HG02074.hp2 HG02683.hp2 HG03041.hp1 HG03669.hp2 NA18942.hp2 NA19002.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 others(4): Show a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0015g0003	8	230	0.0348	-409	c.620 others(17): Show c.620-1409_620-1001del	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675653	CGAGGACA others(402): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03688.hp1 HG01070.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0260 a0001c0001t0002g0267	2	378	0.0053	-409	c.305 others(17): Show c.305-2015_305-1607del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
MYT1_chr20_64159452_64247253	64175924	TCTCCTGC others(402): Show TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	223	0.0045	-409	c.-99 others(19): Show c.-99+11204_-99+11612del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241806614	TCCCCCCT others(402): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0164 a0004c0009t0001g0164	1	319	0.0031	-409	c.-26 others(11): Show c.-2663_-2255del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2578		chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2121962	AGGGTCAC others(402): Show AGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGT GGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGG TTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTG GTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGG GTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAG GGTTGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	286	0.0035	-409	c.335 others(19): Show c.335-13298_335-12890del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132694101	GTGAGCGC others(402): Show GTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGT GAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCTAGTTAGAGAGCTCCC TTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCT TAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCA GTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGTGAGCGCCCTTGCCAG TTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTG AGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTC CCTTAGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTT GCCAGTTAGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(72): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0001c0002t0006 a0003c0009t0002 a0001c0002t0002 a0001c0002t0006 a0003c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 others(28): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0006g0002 a0003c0009t0002g0062	75	350	0.2143	-409	c.237 others(17): Show c.237-1781_237-1373del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(402): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0250 a0001c0001t0021g0250	1	330	0.0030	-409	c.970 others(19): Show c.970-21767_970-21359del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071000	GAGCCCCC others(402): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0104 a0001c0006t0021g0104	1	118	0.0085	-409	c.224 others(19): Show c.2241+2224_2241+2632del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071044	CCCCCAGC others(402): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0054 a0001c0035t0001g0054	1	118	0.0085	-409	c.224 others(19): Show c.2241+2180_2241+2588del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A1_chr6_160116815_160163718	160125716	GGGGAGGA others(402): Show GGGGAGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGAT CTCCTCTTCTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATT TTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGAT CATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCT CCCAACAAGAGGATCTCCTCTGGTGCTAAGATCACGAGGTCCACTCGGGG GGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCC TCTGGTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTCC TGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATG AGGTCCACTC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp1 HG02809.hp2 NA18522.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0291 a0004c0013t0001g0292 a0004c0013t0001g0291 a0004c0013t0001g0292	2	416	0.0048	-409	c.411 others(17): Show c.411+3374_411+3782del	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158705078	GAGGGCTA others(402): Show GAGGGCTATAAGGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTGACA GTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGAC AGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTG ACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGGGACAGGG TGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGGGACAG GGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGGGGCA GGGTGACAGTGAGGGCTGTAAGGCCACGTAGGACAGGAGGAACCCGGGGC AGGGTAACACTGAGGGCCGTAAGGTCACATAGGGCAGGAGGGACCTGGGG ACAGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	292	0.0034	-409	c.395 others(17): Show c.395-2135_395-1727del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TCF3_chr19_1604292_1657615	1627982	GGGGTGAG others(402): Show GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0070 a0002c0001t0070	a0002c0001t0070g0121 a0002c0001t0070g0121	1	352	0.0028	-409	c.299 others(15): Show c.299-965_299-557del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236968	CCCTCCCG others(401): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCC GGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG GTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	106	0.0094	-408	c.136 others(19): Show c.1362-3531_1362-3124del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237016	GCCTCCCG others(401): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT CCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0007 a0006c0012t0007	a0006c0012t0007g0006 a0006c0012t0007g0006	1	106	0.0094	-408	c.136 others(19): Show c.1362-3579_1362-3172del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144625957	TCACTGCA others(401): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGG AGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACG GAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCAC GGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGAGGCCCCGTTCA CGGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0009 a0001c0010t0001g0009	1	246	0.0041	-408	c.-81 others(19): Show c.-81-20670_-81-20263del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
BRF1_chr14_105204286_105306001	105232615	GCAGCCCT others(401): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	72	0.0139	-408	c.695 others(17): Show c.695-4110_695-3703del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234655	ACAGCCCT others(401): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	72	0.0139	-408	c.695 others(17): Show c.695-6150_695-5743del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237510	ACAGCCCT others(401): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	72	0.0139	-408	c.694 others(17): Show c.694+3347_694+3754del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238129	CGTGGCAC others(401): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	72	0.0139	-408	c.694 others(17): Show c.694+2728_694+3135del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240327	GTCCGCGT others(401): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0034 a0001c0001t0007g0071 a0001c0001t0003g0034 a0001c0001t0007g0071	2	72	0.0278	-408	c.694 others(15): Show c.694+530_694+937del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
COL5A1_chr9_134636803_134849843	134849333	TATCACAC others(401): Show TATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATA TCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGATC ACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCAC ACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACAC CTCCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACCC CCCAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTCC CGGGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCCA GTGAGCGTGGGATCACACCTCCCAGGAAGCATGGTATCACACCTCCCAGG AAGCACAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0145 a0001c0004t0003g0145	1	272	0.0037	-408	c.70 others(11): Show c.7031_*7438del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4491		chr9	TogoVar
DGKB_chr7_14140049_14907751	14211296	ATTTACTC others(401): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	148	0.0068	-408	c.212 others(21): Show c.2123-33553_2123-33146del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
ERC1_chr12_986223_1500931	1085082	ATTGTTGT others(401): Show ATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGA AAGTGCTGCGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTAT TATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTATTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	-408	c.108 others(19): Show c.1086+1515_1086+1922del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXN3_chr14_89151177_89422233	89360822	ACCTCCAC others(401): Show ACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC CACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCA GCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCAC CTCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCA CCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCTCCACCA CCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0195	1	230	0.0044	-408	c.544 others(19): Show c.544-10422_544-10015del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659402	AAGGAGAA others(401): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAAGAGGAAGAGGAAGAGGAA GAGGGAGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAAGAAGAAGAGGG AGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGG AGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGG AGAAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(101): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp1 HG02735.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0011 others(4): Show a0001 a0010 a0011 a0016 a0020 a0022 a0023	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0010c0028 a0011c0029 a0016c0030 a0020c0031 a0022c0032 a0023c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0011t0001 a0001c0012t0001 a0010c0028t0001 a0011c0029t0001 a0016c0030t0001 a0020c0031t0001 a0022c0032t0001 a0023c0033t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(101): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0010g0141 a0001c0001t0014g0269 a0001c0011t0001g0190 a0001c0011t0001g0191 a0001c0012t0001g0159 a0001c0012t0001g0162 a0010c0028t0001g0192 a0011c0029t0001g0165 a0016c0030t0001g0137 a0020c0031t0001g0150 a0022c0032t0001g0161 a0023c0033t0002g0271	104	282	0.3688	-408	c.-81 others(19): Show c.-81+24863_-80-24913del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48659510	AAGAGGGA others(401): Show AAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	1	282	0.0036	-408	c.-81 others(19): Show c.-81+24755_-80-25021del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
HELZ2_chr20_63553086_63579239	63571381	ACCTCTGG others(401): Show ACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGG AACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGG GAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTG GGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCT GGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCC TGGGAGTCTCTGGCTCTGCCTACAGTGGGCTCCTGCCCCGCTCCAAGCTC CTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCT CCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGC TCCTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0076 a0076	a0076c0086 a0076c0086	a0076c0086t0077 a0076c0086t0077	a0076c0086t0077g0079 a0076c0086t0077g0079	1	390	0.0026	-408	c.278 others(15): Show c.278+319_279-514del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(401): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	350	0.0029	-408	c.27 others(11): Show c.2756_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MCF2L_chr13_112964214_113104742	113011933	GGTGTGGA others(401): Show GGTGTGGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCTGGGTGGATG GTGGACACTGCGATGAGGACGGTGGACACTGCGATGAGGACAGTGGACAG GTGGTGTGGACGGTGGACACTGCAGTGTGAATGGTGGACAGGTGGTGTGG ACAGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGTGGAC AGGCAGTGTGGACGGTGGACACTGTGATGCGGACGGTGGACAGGCAGTGT GGATGGTGGACAGGCGGTGTGGACGGTGGACAGGCTGGGTGGATGGTGGA CACTGCGATGAGGACGGTGGACACTGCGATGAGGACAGTGGACAGGTGGT GTAGACAGTGGACACTGCAGTGTGGATGGTGGACAGGTGGTGTGGACGGT GGACAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(29): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00733.hp2 HG01070.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03834.hp1 HG04115.hp2 NA18946.hp2 NA18950.hp2 NA19005.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0016	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0016 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0006t0002 a0001c0012t0031 a0001c0013t0001 a0001c0016t0004	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0045 others(29): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0012g0055 a0001c0001t0017g0059 a0001c0001t0018g0077 a0001c0002t0001g0069 a0001c0002t0016g0054 a0001c0002t0027g0065 a0001c0003t0001g0053 a0001c0003t0002g0019 a0001c0003t0002g0042 a0001c0003t0002g0047 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0002g0111 a0001c0003t0020g0089 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0095 a0001c0005t0001g0068 a0001c0005t0001g0088 a0001c0006t0002g0110 a0001c0012t0031g0021 a0001c0013t0001g0067 a0001c0016t0004g0085	32	116	0.2759	-408	c.80- others(15): Show c.80-2822_80-2415del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTM1_chrX_150563621_150678143	150583541	TATTATAC others(401): Show TATTATACATAATTTATATATAATATATAATTTATATATAATATATATAA TTTATATATAATATATAATTTATATATATTATATATAATTTATATATAAT ATATAATTTATATATATTATATATAATTTATATATAAATAATTTGTATAT ATTATTTATAAATATATAAATTATATATATTATATAAATTATATATTATA TATAAATTAATATATATTAAATTAATATATATTTAATATATAAAATATAT ATAAAATATATATTAAATATATATATTAAATATACAAAATATATATAAAT ATATATCAAATATATAAAATATATATTAAATATATATTAAATATATATAT ATATTTGATATATATATATATAATATAAAATATATATTAAATTAAAATAT ATATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG03654.hp1 others(3): Show HG00738.hp1 HG00741.hp1 HG03654.hp1 HG03669.hp1 HG04204.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0061 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0085	6	277	0.0217	-408	c.-10 others(17): Show c.-10-9061_-10-8654del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
OR2T6_chr1_248370746_248396811	248383190	GAAAGCAC others(401): Show GAAAGCACTGCACTAGCCTGAGTGTGTTCATCCTATCCTGAAGTGTATCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTATCCTGATGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCGTCA TGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGT TTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATT GTCATGGGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02647.hp2 others(13): Show HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0017 a0004c0004 a0004c0017	a0004c0004t0007 a0004c0004t0015 a0004c0004t0018 others(2): Show a0004c0004t0007 a0004c0004t0015 a0004c0004t0018 a0004c0004t0033 a0004c0017t0007	a0004c0004t0007g0010 a0004c0004t0007g0033 a0004c0004t0007g0034 others(6): Show a0004c0004t0007g0010 a0004c0004t0007g0033 a0004c0004t0007g0034 a0004c0004t0007g0067 a0004c0004t0015g0021 a0004c0004t0018g0033 a0004c0004t0018g0068 a0004c0004t0033g0010 a0004c0017t0007g0034	16	403	0.0397	-408	c.-15 others(19): Show c.-158-1495_-158-1088del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248383978	AAGTGTTT others(401): Show AAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAG TGTGTTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGGTAAA GCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGT GTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTAT CCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCC TGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGG TAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTATCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01981.hp2 HG02055.hp1 others(11): Show HG01261.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG03130.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0005 a0002c0002t0008 a0009c0013t0005 a0002c0002t0005 a0002c0002t0008 a0009c0013t0005	a0002c0002t0005g0006 a0002c0002t0008g0013 a0002c0002t0008g0020 others(1): Show a0002c0002t0005g0006 a0002c0002t0008g0013 a0002c0002t0008g0020 a0009c0013t0005g0060	14	403	0.0347	-408	c.-15 others(17): Show c.-158-732_-158-325del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2			chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31510924	AACATATA others(401): Show AACATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACA TATGTATATCTATATGTAACATATGTATATCTATATGTAACATACATGTA TATCTATATGTAACATACATGTATATCTATATGTAACATACATATATATG TATATCTATATGTAACATACATATGTATATCTATATGTAACATACATATG TATATCTATATGTAACATACATATGTATATCTATATGTAACATACATATG TATATCTATATGTAACACACATATGTATATCTATATGTAACACACATACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATATATATGTATATCTAT ATGTAACAC	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0148 a0001c0001t0006g0148	1	244	0.0041	-408	c.894 others(17): Show c.894-7514_894-7107del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511218	CATACATA others(401): Show CATACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATATATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATAT ATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAA CACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp1 HG02155.hp1 HG01952.hp1 HG02148.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0063 a0001c0002t0001g0163 a0001c0002t0001g0039 a0001c0002t0001g0063 a0001c0002t0001g0163	3	244	0.0123	-408	c.894 others(17): Show c.894-7808_894-7401del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511247	CATACATA others(401): Show CATACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATATATATGTATATCTATATGTAACACACATATATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACATATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAA CACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	244	0.0041	-408	c.894 others(17): Show c.894-7837_894-7430del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCNT_chr21_46319156_46450769	46383736	GCATTCAC others(401): Show GCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGT GCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAA GCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGAT GGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACAG TGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTG ATGGAAGCA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18967.hp2 NA18983.hp2 others(4): Show NA18952.hp2 NA18967.hp2 NA18983.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0201 others(4): Show a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0213	7	332	0.0211	-408	c.331 others(19): Show c.3313-1986_3313-1579del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRKCA_chr17_66297613_66815743	66799137	TGGTGGTG others(401): Show TGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGT GGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0074 a0001c0003t0040g0074	1	178	0.0056	-408	c.185 others(19): Show c.1855-4728_1855-4321del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114006236	CGGATGCC others(401): Show CGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTA CCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTA CCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCC TGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGA CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGACGCCACCTTACC CTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	67	0.0149	-408	c.174 others(18): Show c.1742+889_1742+1296del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SLC9A3_chr5_465456_529449	486886	GCACTGAC others(401): Show GCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCC ACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACA CCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTG ACACCCACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACC CACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACT GACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGA CACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01099.hp1 others(13): Show HG00323.hp2 HG00735.hp1 HG01099.hp1 HG01243.hp1 HG01261.hp2 HG02109.hp1 HG02145.hp2 HG02896.hp1 HG03471.hp1 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0030 a0002c0002 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0003t0008 a0001c0008t0001 a0001c0008t0005 a0001c0009t0008 a0001c0009t0009 a0001c0030t0008 a0002c0002t0002 a0010c0017t0004	a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0121 others(13): Show a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0004g0091 a0001c0001t0024g0119 a0001c0003t0008g0118 a0001c0003t0008g0152 a0001c0008t0001g0158 a0001c0008t0005g0208 a0001c0008t0005g0216 a0001c0009t0008g0151 a0001c0009t0009g0090 a0001c0030t0008g0150 a0002c0002t0002g0148 a0010c0017t0004g0123	16	218	0.0734	-408	c.675 others(17): Show c.675+1022_675+1429del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168593854	GGGCGTCT others(401): Show GGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01081.hp1 others(25): Show HG00099.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02109.hp2 HG02129.hp2 HG02602.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0004t0005	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 others(25): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0008g0047 a0001c0002t0016g0046 a0001c0004t0005g0048	28	180	0.1556	-408	c.638 others(17): Show c.638-4963_638-4556del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMYD3_chr1_245744347_246512279	245975705	GGCCCAGG others(401): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	150	0.0067	-408	c.532 others(19): Show c.532-46176_532-45769del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976045	TAGGGAAA others(401): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	150	0.0067	-408	c.532 others(19): Show c.532-46516_532-46109del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976641	AGCCCAGG others(401): Show AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCC CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19240.hp2 HG02165.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0002 a0001c0001t0001 a0002c0005t0002	a0001c0001t0001g0059 a0002c0005t0002g0106 a0001c0001t0001g0059 a0002c0005t0002g0106	2	150	0.0133	-408	c.532 others(19): Show c.532-47112_532-46705del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221501	CTCTCTCT others(401): Show CTCTCTCTCTCTCTCTGTCTCTCTCTATCTCTGTCTCTATCTCTGTCTCT GTGTGTCCTCTCTCTCTCTCTCTGTCTCTGTCTGTCGCTGTCGCTCTGTG TATCTCTGTCTCTGTCTGTGTCTCGTGTCGGTGCTCCGGTTCCCCCCAAC CTCTGTCTCGGTCCCCCCCGGTCTCGGTCTCTCTCTCTCTCGGTTCTTCT CGGTCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGT CTGTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTGTCTGTCT CTGTCTCTCTCTCGGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCT CTGTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCTGTGTCTCTCT CTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	190	0.0053	-408	c.719 others(19): Show c.719+12277_719+12684del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7363617	CGTCACCA others(401): Show CGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTG GTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATC ATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCA TAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCA CCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCACCAT CACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATG CCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACC ATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCA TTGTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	1	168	0.0060	-408	c.481 others(19): Show c.481-32670_481-32263del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SUCO_chr1_172528150_172616833	172539549	TATTTTAT others(401): Show TATTTTATATTTTACATGAAAGTGACACCTGGCTGTATCAGAAAGTATTC TGTAACATTAATACGGTTCATAGGTACTAAGCTAATTTTGTATTATTATG TAGCGTTTGTAATCTACTGGAGAAAAAACATGTAAAGGCTAAGAACAGTG CCTCACTCGTAGTAAGCACTACTGTATGAGTTATTCATTGACTCTAGCTA CTTTGGTAATTTGTTGAGTAGAAATAAGATGGCCTAGGTTTCAGAGTTAA AAATGGGAATTTATAAATCCACTTAAATATTATTTGATTATTCACAATGT ATTTGGTGTGATGAAGGATACAGAAGAATTGTGAGACTTGAGCTCTGTAT ATAAGCTGCTTGTTACAATACAGATAGTGGTGTAGTGTGAAAGGCATAAA ACTATGTCA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	340	0.0029	-408	c.62+ others(15): Show c.62+6053_62+6460del	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	1/23			chr1	TogoVar

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