Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX3_chr17_79084345_79616051	79491106	GGAGAGGG others(22): Show GGAGAGGGGAGGGGAGGGGAGGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	154	0.0065	-29	c.-31 others(48): Show c.-319-8537_-319-8509delTCCCTTCCCCTCCCCTCCCCTCCCCT CTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM27_chr5_146198605_146294223	146290869	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp2 others(70): Show HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02300.hp2 HG02683.hp1 HG03209.hp2 HG03491.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp2 NA19007.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0031 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 others(70): Show a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0010g0198 a0001c0001t0010g0245 a0001c0001t0010g0246 a0001c0001t0017g0214 a0001c0001t0031g0241 a0001c0002t0001g0261 a0001c0003t0002g0236 a0001c0003t0002g0249	73	272	0.2684	-29	c.48 others(40): Show c.4840_*4868delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding		1647		chr5	TogoVar
RBM34_chr1_235126183_235166250	235155845	ATATATAT others(22): Show ATATATATATATATATATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp2 HG02630.hp2 others(3): Show HG01106.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0278 a0001c0002t0001g0279 others(2): Show a0001c0002t0001g0036 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281	6	388	0.0155	-29	c.366 others(44): Show c.366-762_366-734delATATATGTATATATATATATATATATATA	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM47_chr4_40418280_40634864	40592953	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	278	0.0036	-29	c.-24 others(50): Show c.-240+36414_-240+36442delAAATATATATATATATATATATAT ATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592955	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02148.hp2 HG00741.hp2 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0058 a0001c0001t0007 a0002c0002t0058	a0001c0001t0007g0116 a0002c0002t0058g0117 a0001c0001t0007g0116 a0002c0002t0058g0117	2	278	0.0072	-29	c.-24 others(50): Show c.-240+36412_-240+36440delAAAAATATATATATATATATATAT ATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592957	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01978.hp1 HG01993.hp1 others(4): Show HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02698.hp2 HG02886.hp2 HG03654.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0031 a0001c0001t0040 a0001c0001t0127 a0001c0004t0024	a0001c0001t0001g0112 a0001c0001t0005g0154 a0001c0001t0013g0111 others(4): Show a0001c0001t0001g0112 a0001c0001t0005g0154 a0001c0001t0013g0111 a0001c0001t0031g0115 a0001c0001t0040g0114 a0001c0001t0127g0261 a0001c0004t0024g0095	7	278	0.0252	-29	c.-24 others(50): Show c.-240+36410_-240+36438delAAAAAAATATATATATATATATAT ATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG02155.hp2 others(3): Show HG00738.hp1 HG01071.hp1 HG02155.hp2 HG03491.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0002c0007 a0006c0017	a0001c0001t0056 a0001c0021t0035 a0002c0002t0019 others(3): Show a0001c0001t0056 a0001c0021t0035 a0002c0002t0019 a0002c0002t0061 a0002c0007t0093 a0006c0017t0031	a0001c0001t0056g0090 a0001c0021t0035g0089 a0002c0002t0019g0091 others(3): Show a0001c0001t0056g0090 a0001c0021t0035g0089 a0002c0002t0019g0091 a0002c0002t0061g0093 a0002c0007t0093g0097 a0006c0017t0031g0092	6	278	0.0216	-29	c.-24 others(50): Show c.-240+36408_-240+36436delAAAAAAAAATATATATATATATAT ATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592961	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02647.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0004 a0002c0007t0025 a0001c0004t0004 a0002c0007t0025	a0001c0004t0004g0132 a0002c0007t0025g0130 a0001c0004t0004g0132 a0002c0007t0025g0130	2	278	0.0072	-29	c.-24 others(50): Show c.-240+36406_-240+36434delAAAAAAAAAAATATATATATATAT ATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS2_chr12_56516820_56601193	56597571	CACACACA others(22): Show CACACACACACAGCGCGCGCTCTGAGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0111 a0001c0001t0020g0111	1	280	0.0036	-29	c.84 others(40): Show c.8439_*8467delACACACACACAGCGCGCGCTCTGAGGCTG	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding		1379		chr12	TogoVar
RBMS2_chr12_56516820_56601193	56597608	CACACACA others(22): Show CACACACACACACAGCGCGCTCTGAGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0011 a0001c0001t0020	a0001c0001t0011g0159 a0001c0001t0020g0113 a0001c0001t0011g0159 a0001c0001t0020g0113	2	280	0.0071	-29	c.84 others(40): Show c.8476_*8504delACACACACACACAGCGCGCTCTGAGGCCG	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding		1416		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01106.hp1 others(5): Show HG00140.hp1 HG00280.hp1 HG01106.hp1 HG01361.hp2 HG01993.hp2 HG03130.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0001t0043 a0001c0001t0045 a0001c0001t0070 a0001c0001t0074	a0001c0001t0002g0030 a0001c0001t0006g0053 a0001c0001t0006g0063 others(5): Show a0001c0001t0002g0030 a0001c0001t0006g0053 a0001c0001t0006g0063 a0001c0001t0023g0054 a0001c0001t0043g0101 a0001c0001t0045g0013 a0001c0001t0070g0075 a0001c0001t0074g0031	8	116	0.0690	-29	c.638 others(48): Show c.638-48644_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBP5_chr12_7118686_7133889	7129049	TTCCTGAG others(22): Show TTCCTGAGGAAGGAACCTGGAGCAGGATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0082 a0004c0004t0001g0082	1	424	0.0024	-29	c.-30 others(38): Show c.-303_-275delGGATCCTGCTCCAGGTTCCTTCCTCAGGA	RBP5	ENSG00000139194.8	transcript	ENST00000266560.8	protein_coding		161		chr12	TogoVar
RBPMS_chr8_30379541_30577256	30511481	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	304	0.0033	-29	c.397 others(46): Show c.397+7047_397+7075delAAAAATATATATATATATATATATATAT A	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H2_chr9_122839556_122910359	122868867	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0221 a0001c0001t0026g0221	1	320	0.0031	-29	c.132 others(48): Show c.1326-3239_1326-3211delACACATACACACACACACACACACAC ACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCOR1_chr14_102587649_102735561	102630652	ATCCAGAA others(22): Show ATCCAGAAGATAAGAAGGGTAGTGGGGACT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	292	0.0034	-29	c.361 others(48): Show c.361+37328_361+37356delTCCAGAAGATAAGAAGGGTAGTGGGG ACT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11			chr14	TogoVar
RCOR1_chr14_102587649_102735561	102632715	TTCCTTTC others(22): Show TTCCTTTCCTTTCTTCTCCCCTCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0142 a0001c0001t0050g0142	1	292	0.0034	-29	c.361 others(48): Show c.361+39391_361+39419delTCCTTTCCTTTCTTCTCCCCTCCCCT CCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11			chr14	TogoVar
RDH10_chr8_73289602_73330281	73315132	TCCCCACC others(22): Show TCCCCACCGGCCTCCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp1 NA19030.hp1 others(2): Show HG01243.hp1 HG03540.hp1 NA19030.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0023 a0001c0001t0004 a0001c0001t0019 a0001c0001t0023	a0001c0001t0004g0054 a0001c0001t0019g0055 a0001c0001t0023g0205 a0001c0001t0004g0054 a0001c0001t0019g0055 a0001c0001t0023g0205	5	396	0.0126	-29	c.526 others(46): Show c.526-3852_526-3824delTCTCCCCCCACCGGCCTCCTCTCTCTCT C	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RESF1_chr12_31954415_31998107	31996917	AAGTAGCT others(22): Show AAGTAGCTGCGATTAACAGGTATGTGCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0026 a0011c0012t0001g0026	1	452	0.0022	-29	c.43 others(40): Show c.4383_*4411delAGTAGCTGCGATTAACAGGTATGTGCCAC	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3811		chr12	TogoVar
RFC4_chr3_186784900_186811482	186809875	TAGTGGAG others(22): Show TAGTGGAGACAGGGTTTTACCACGTTGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04204.hp2 HG04115.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	432	0.0046	-29	c.-36 others(40): Show c.-3626_-3598delGAACAACGTGGTAAAACCCTGTCTCCACT	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding		3394		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124319978	CTTTCTTT others(22): Show CTTTCTTTGGGGGCGGGTGGGATGACCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0065 a0002c0005t0005g0065	1	388	0.0026	-29	c.54 others(40): Show c.5454_*5482delTTTCTTTGGGGGCGGGTGGGATGACCTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		3955		chr12	TogoVar
RFT1_chr3_53083483_53135435	53123040	TGGGGCAC others(22): Show TGGGGCACTTAAATATGACTGGGTGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0084 a0005c0009t0001g0084	1	324	0.0031	-29	c.267 others(44): Show c.267-506_267-478delTTAACCACCCAGTCATATTTAAGTGCCCC	RFT1	ENSG00000163933.10	transcript	ENST00000296292.8	protein_coding	3/12			chr3	TogoVar
RFX2_chr19_5988164_6115500	6024716	AGTGAGGA others(22): Show AGTGAGGACGGGAGTGAGGACGGGATCACG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp1 HG03017.hp1 others(1): Show HG01515.hp1 HG02055.hp1 HG03017.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0089 a0002c0002t0003g0075	4	308	0.0130	-29	c.597 others(46): Show c.597+1418_597+1446delCGTGATCCCGTCCTCACTCCCGTCCTCA C	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3467119	CATATATG others(22): Show CATATATGTAAGTATATATGTATATACATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0063 a0001c0001t0053 a0001c0001t0063	a0001c0001t0053g0128 a0001c0001t0063g0174 a0001c0001t0053g0128 a0001c0001t0063g0174	2	196	0.0102	-29	c.-9+ others(46): Show c.-9+58599_-9+58627delTATGTATATACATATATACTTACATATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX8_chr2_101392359_101480112	101470068	TTGTCACC others(22): Show TTGTCACCCAGTAGTTGCCTCAGCCTTCAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0185 a0001c0015t0001g0185	1	352	0.0028	-29	c.-52 others(46): Show c.-52-3197_-52-3169delCTGAAGGCTGAGGCAACTACTGGGTGAC A	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGL1_chr1_183800120_183933532	183805971	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	296	0.0034	-29	c.28- others(42): Show c.28-392_28-364delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD2_chr2_87750960_87830796	87825483	CGCCGCCG others(22): Show CGCCGCCGCCCGGCCGAGGCCGAGGCCGAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp1 others(20): Show HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01258.hp2 HG01361.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02273.hp2 HG02559.hp1 HG02738.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03239.hp2 HG04115.hp1 NA18522.hp1 NA18962.hp2 NA18975.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0009 a0009c0026 a0012c0015	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0002c0003t0001 a0003c0009t0002 a0009c0026t0001 a0012c0015t0016	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(20): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0008g0095 a0001c0001t0008g0103 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0088 a0002c0003t0001g0093 a0003c0009t0002g0085 a0009c0026t0001g0096 a0012c0015t0016g0086	23	176	0.1307	-29	c.72+ others(42): Show c.72+146_72+174delCTCGGCCTCGGCCTCGGCCGGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825527	GAGGCCGA others(22): Show GAGGCCGAGGCCGAGGCCGCCGCCCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	176	0.0057	-29	c.72+ others(42): Show c.72+102_72+130delTGGCCGGGCGGCGGCCTCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS10_chr10_119494817_119547719	119521606	AAAGAAAG others(22): Show AAAGAAAGGAAGGAAGGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(46): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18967.hp2 NA18980.hp1 NA18981.hp1 NA19060.hp2 NA19068.hp1 NA19081.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 others(41): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0151 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0301 a0001c0001t0002g0017 a0001c0001t0002g0056 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0005g0182	49	393	0.1247	-29	c.255 others(46): Show c.255+4397_255+4425delCCTTCCTTTCTTTCCTTCCTTCCTTTCT T	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding	3/4			chr10	TogoVar
RGS14_chr5_177352924_177377596	177371062	GCGGGGCC others(22): Show GCGGGGCCGGGCCGGGGCCGGGGCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG02004.hp2 HG02027.hp1 HG02083.hp1 HG02280.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02970.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18985.hp1 NA18991.hp1 NA18995.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19081.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0183	60	418	0.1435	-29	c.125 others(44): Show c.1254+42_1255-64delCCGGGGCCGGGGCCGGGGCCGGGGCCGGG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS20_chr8_53846795_53964303	53948674	ATATAAGA others(22): Show ATATAAGATACAGTACATATTTACATATGC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01243.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01243.hp2 HG02723.hp2 NA18945.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0002g0106 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0002g0106 a0001c0001t0002g0232 a0001c0001t0007g0033 a0001c0001t0007g0045	6	258	0.0233	-29	c.743 others(46): Show c.743+1931_743+1959delAGATACAGTACATATTTACATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948984	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	258	0.0039	-29	c.743 others(46): Show c.743+2241_743+2269delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949015	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	258	0.0039	-29	c.743 others(46): Show c.743+2272_743+2300delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949046	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG02083.hp2 HG00642.hp1 HG01261.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0198 a0001c0001t0002g0154 a0001c0001t0002g0258 a0001c0001t0001g0198 a0001c0001t0002g0154 a0001c0001t0002g0258	3	258	0.0116	-29	c.743 others(46): Show c.743+2303_743+2331delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949077	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01123.hp2 others(20): Show HG00597.hp1 HG01074.hp2 HG01123.hp2 HG01346.hp2 HG02165.hp1 HG02451.hp1 HG02602.hp2 HG03704.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18963.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp2 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0001t0001g0231 a0001c0001t0002g0126 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0248	23	258	0.0892	-29	c.743 others(46): Show c.743+2334_743+2362delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949108	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01891.hp2 HG02451.hp2 others(10): Show HG01257.hp1 HG01891.hp2 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG03516.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0023 a0001c0001t0002g0192 a0001c0001t0003g0001 others(10): Show a0001c0001t0001g0023 a0001c0001t0002g0192 a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0109 a0001c0001t0003g0181 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0002t0003g0003 a0001c0003t0002g0029	13	258	0.0504	-29	c.743 others(46): Show c.743+2365_743+2393delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949139	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01074.hp1 others(9): Show HG01069.hp2 HG01071.hp1 HG01074.hp1 HG02027.hp1 HG02257.hp1 HG02717.hp2 HG02897.hp1 NA18612.hp2 NA18945.hp1 NA18946.hp2 NA18975.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0121 others(9): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0252 a0001c0001t0002g0169 a0001c0001t0003g0170 a0001c0001t0006g0043 a0001c0001t0010g0188	12	258	0.0465	-29	c.743 others(46): Show c.743+2396_743+2424delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53949170	ATATAAGA others(22): Show ATATAAGATACAGTATATATTTATATATGC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0113 a0001c0005t0002g0113	1	258	0.0039	-29	c.743 others(46): Show c.743+2427_743+2455delAGATACAGTATATATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS22_chr8_99955936_100111049	100098847	TTATTTTA others(22): Show TTATTTTATTATTTTATTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG00738.hp1 others(36): Show HG00597.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01175.hp2 HG01943.hp2 HG02040.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02738.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG04184.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18965.hp1 NA18974.hp1 NA18983.hp1 NA18985.hp1 NA18991.hp1 NA19001.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19090.hp1 NA20129.hp2 NA21309.hp2	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0003 a0005 a0008 a0014	a0000c0021 a0001c0001 a0001c0003 others(7): Show a0000c0021 a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0011 a0003c0005 a0005c0006 a0008c0013 a0014c0018	a0000c0021t0001 a0001c0001t0001 a0001c0003t0001 others(7): Show a0000c0021t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0002c0002t0001 a0002c0011t0001 a0003c0005t0001 a0005c0006t0001 a0008c0013t0001 a0014c0018t0001	a0000c0021t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0290 others(35): Show a0000c0021t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0003t0001g0001 a0001c0003t0001g0052 a0001c0003t0001g0055 a0001c0004t0002g0053 a0001c0004t0002g0054 a0002c0002t0001g0033 a0002c0002t0001g0058 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0096 a0002c0002t0001g0133 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0213 a0002c0002t0001g0306 a0002c0011t0001g0147 a0003c0005t0001g0057 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0094 a0003c0005t0001g0095 a0005c0006t0001g0082 a0008c0013t0001g0089 a0014c0018t0001g0148	39	310	0.1258	-29	c.55- others(44): Show c.55-5367_55-5339delTAAAATAAAATAAATAAAATAATAAAATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	2/27			chr8	TogoVar
RHBDL2_chr1_38880807_38946830	38891725	AACTAAAG others(22): Show AACTAAAGAGTCCCTTCCCACAGACATAGT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	364	0.0028	-29	c.670 others(46): Show c.670+1410_670+1438delACTATGTCTGTGGGAAGGGACTCTTTAG T	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding	6/7			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706435	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp2 HG03704.hp1 others(3): Show HG00544.hp1 HG01496.hp2 HG03704.hp1 NA18973.hp2 NA18991.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0133 a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0133	6	428	0.0140	-29	c.-77 others(44): Show c.-77+614_-77+642delGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOG_chr11_3821978_3845959	3838482	GAAAGTGC others(22): Show GAAAGTGCCTTGTATGCACATCCTTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01123.hp1 others(23): Show HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0116 others(15): Show a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0116 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0286 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0144 a0001c0001t0002g0227 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340	26	468	0.0556	-29	c.-69 others(46): Show c.-69+2383_-69+2411delTAGAGAAGGATGTGCATACAAGGCACTT T	RHOG	ENSG00000177105.10	transcript	ENST00000351018.5	protein_coding	1/1			chr11	TogoVar
RIMS2_chr8_103495610_104259430	104070261	CCAACATG others(22): Show CCAACATGGTGCATACAAAATTATTTATCA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	172	0.0058	-29	c.369 others(48): Show c.3693+1652_3693+1680delACATGGTGCATACAAAATTATTTATC ACA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN2_chr20_19753258_20007456	19923440	AAAATAAA others(22): Show AAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02451.hp2 others(3): Show HG01167.hp1 HG02258.hp2 HG02451.hp2 HG02717.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0022 a0001c0002t0041 a0001c0007t0012	a0001c0001t0001g0108 a0001c0001t0002g0171 a0001c0001t0009g0245 others(3): Show a0001c0001t0001g0108 a0001c0001t0002g0171 a0001c0001t0009g0245 a0001c0001t0022g0127 a0001c0002t0041g0169 a0001c0007t0012g0168	6	276	0.0217	-29	c.58- others(46): Show c.58-11636_58-11608delATAAAATAAATAAAATAAAATAAAATAA A	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIPK1_chr6_3063494_3120187	3081860	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 NA19083.hp2 HG02723.hp1 HG02818.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0306 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0001g0306 a0001c0001t0007g0321 a0001c0001t0007g0322	3	340	0.0088	-29	c.459 others(44): Show c.459+761_459+789delAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	372	0.0027	-29	c.554 others(44): Show c.554+375_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF148_chr7_122696668_122707922	122704575	TTGCTTCA others(22): Show TTGCTTCAAAACATATCTCACATCAAAAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-29	c.-18 others(40): Show c.-1854_-1826delCCTTTTGATGTGAGATATGTTTTGAAGCA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		1654		chr7	TogoVar
RNF148_chr7_122696668_122707922	122706076	TTTATATA others(22): Show TTTATATATTCAAGGAATATATATATATGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00639.hp1 others(65): Show HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA19003.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19070.hp1 NA19083.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0004c0015 a0006c0009	a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 a0004c0015t0001 a0006c0009t0001	a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0011t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0011t0001g0000 a0004c0015t0001g0000 a0006c0009t0001g0000	68	432	0.1574	-29	c.-33 others(40): Show c.-3355_-3327delGCATATATATATATTCCTTGAATATATAA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3155		chr7	TogoVar
RNF148_chr7_122696668_122707922	122706286	AATATATA others(22): Show AATATATATATGCTTATATATTCAAGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-29	c.-35 others(40): Show c.-3565_-3537delATTCCTTGAATATATAAGCATATATATAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3365		chr7	TogoVar
RNF150_chr4_140854807_141138469	140862423	TGACCTTA others(22): Show TGACCTTAGCAGGTTCTTGTAGAACAAGCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0117 a0001c0001t0082g0117	1	184	0.0054	-29	c.58 others(40): Show c.5809_*5837delTGCTTGTTCTACAAGAACCTGCTAAGGTC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	7/7	5809		chr4	TogoVar
RNF166_chr16_88691501_88711408	88698754	CAAGCGAG others(22): Show CAAGCGAGTTATTCAGTGCGCGTCACCCTG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0162 a0001c0002t0043g0162	1	440	0.0023	-29	c.541 others(44): Show c.541-174_541-146delCAGGGTGACGCGCACTGAATAACTCGCTT	RNF166	ENSG00000158717.11	transcript	ENST00000312838.9	protein_coding	4/5			chr16	TogoVar

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