Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RNF169_chr11_74743849_74847413	74785162	T T	TATATATA others(41): Show TATATATATATGATATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0272 a0001c0001t0026g0272	1	217	0.0046	48	c.503 others(65): Show c.503-4452_503-4405dupATATATATATATGATATATATATGATAT ATATATATGATATATATATG		RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(41): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01099.hp1 others(11): Show HG00544.hp1 HG00609.hp1 HG01099.hp1 HG01515.hp1 HG01934.hp2 HG02027.hp1 HG02293.hp1 HG03831.hp1 NA18941.hp1 NA18953.hp2 NA18955.hp1 NA18974.hp1 NA18988.hp2 NA19006.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0004 a0007c0014 a0002c0003 a0004c0004 a0007c0014	a0002c0003t0002 a0004c0004t0002 a0007c0014t0002 a0002c0003t0002 a0004c0004t0002 a0007c0014t0002	a0002c0003t0002g0375 a0002c0003t0002g0385 a0002c0003t0002g0386 others(11): Show a0002c0003t0002g0375 a0002c0003t0002g0385 a0002c0003t0002g0386 a0002c0003t0002g0390 a0004c0004t0002g0120 a0004c0004t0002g0124 a0004c0004t0002g0128 a0004c0004t0002g0135 a0004c0004t0002g0155 a0004c0004t0002g0159 a0004c0004t0002g0160 a0007c0014t0002g0336 a0007c0014t0002g0358 a0007c0014t0002g0361	14	169	0.0828	48	c.22 others(59): Show c.2254_*2255insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2060		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882050	A A	ATACATCT others(41): Show ATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	390	0.0026	48	c.23 others(59): Show c.2324_*2325insTACATCTATATAGATACATCTATATAGATACATC TATATAGATACATC		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2130		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(41): Show GATACATCTATATAGATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0320 a0009c0012t0001g0321 a0009c0012t0001g0320 a0009c0012t0001g0321	2	73	0.0274	48	c.24 others(59): Show c.2425_*2426insATACATCTATATAGATAGATATATAGATACATCT ATATAGATAGATAT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2231		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(41): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	82	0.0122	48	c.24 others(59): Show c.2443_*2444insATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATAT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2249		chr13	TogoVar
RNF213_chr17_80255852_80403794	80314196	A A	ATGGTGGA others(41): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp1 others(13): Show HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02647.hp2 HG03491.hp1 HG03831.hp2 NA18942.hp2 NA18947.hp2 NA18957.hp2 NA18970.hp1 NA18983.hp2	a0001 a0002 a0031 others(9): Show a0001 a0002 a0031 a0034 a0035 a0047 a0050 a0052 a0067 a0082 a0091 a0095	a0001c0001 a0001c0006 a0002c0002 others(10): Show a0001c0001 a0001c0006 a0002c0002 a0031c0025 a0034c0086 a0035c0062 a0047c0102 a0050c0059 a0052c0041 a0067c0130 a0082c0052 a0091c0043 a0095c0140	a0001c0001t0001 a0001c0006t0008 a0002c0002t0039 others(10): Show a0001c0001t0001 a0001c0006t0008 a0002c0002t0039 a0031c0025t0011 a0034c0086t0006 a0035c0062t0054 a0047c0102t0002 a0050c0059t0044 a0052c0041t0046 a0067c0130t0002 a0082c0052t0057 a0091c0043t0002 a0095c0140t0011	a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0257 others(13): Show a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0006t0008g0119 a0002c0002t0039g0254 a0031c0025t0011g0256 a0034c0086t0006g0197 a0035c0062t0054g0125 a0047c0102t0002g0020 a0050c0059t0044g0135 a0052c0041t0046g0233 a0067c0130t0002g0012 a0082c0052t0057g0242 a0091c0043t0002g0055 a0095c0140t0011g0178	16	268	0.0597	48	c.281 others(67): Show c.2811+1061_2811+1062insGTGGTGATGGTGGAGGTGGTGGAGGT AATGGAGGTGATGGTGGTGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315249	G G	GTGGTGGT others(41): Show GTGGTGGTGGTGGTGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0031 a0031	a0031c0025 a0031c0025	a0031c0025t0058 a0031c0025t0058	a0031c0025t0058g0258 a0031c0025t0058g0258	1	241	0.0041	48	c.281 others(67): Show c.2812-1936_2812-1935insTGGTGGTGGTGGTGGTGGTGGTAATG GAGGTGATGGTGGTGGTACTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18965.hp2 NA18967.hp1 others(5): Show HG01952.hp2 NA18965.hp2 NA18967.hp1 NA18975.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0017 others(4): Show a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0059 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0182	8	381	0.0210	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACGTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02056.hp1 others(16): Show HG00609.hp1 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02809.hp1 HG03710.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18961.hp1 NA18961.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp2 NA19056.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0003	a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0096 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0096 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0175 a0001c0007t0003g0173	19	392	0.0485	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACCTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530357	C C	CGGAGCCC others(41): Show CGGAGCCCACGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCTGCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02559.hp1 HG03225.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0162 a0001c0001t0001g0026 a0001c0001t0001g0162	4	442	0.0090	48	c.802 others(63): Show c.802-152_802-151insCAGGCAGCTGGGAGGCAGGCCTGCTGGGCT GACTTGCACGTGGGCTCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530387	C C	CCTGCCTC others(41): Show CCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCGGCCCAGCGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	3	441	0.0068	48	c.802 others(63): Show c.802-182_802-181insACCCGCTGGGCCGACCTGCATCTGGGCTCC CAGGCAGCTGGGAGGCAG		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530414	G G	GGTGCAAG others(41): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	424	0.0024	48	c.801 others(63): Show c.801+167_801+168insGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530424	A A	AGCCCGGT others(41): Show AGCCCGGTGGGCCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0154 a0001c0001t0028g0154	1	437	0.0023	48	c.801 others(63): Show c.801+157_801+158insCGACCTGCATCTGGGCTCCCAGGCAGCTGG GAGGCAGGCCCACCGGGC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530432	A A	AGGCCTGC others(41): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	409	0.0024	48	c.801 others(63): Show c.801+102_801+149dupCACCGGGCTGACTTGCACGTGGGCTCCGGG GCGGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNFT2_chr12_116733315_116858631	116750859	T T	TATTATAT others(41): Show TATTATATATATATATAATATATATTATATATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0063 a0001c0003t0014g0063	1	258	0.0039	48	c.550 others(63): Show c.550+552_550+553insATTATATATATATATAATATATATTATATA TATATAATATATATATTA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10						chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841822	T T	TATATATA others(41): Show TATATATATATAAATATATATATAAATATATATAAAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0066 a0001c0006t0006g0066	1	263	0.0038	48	c.120 others(67): Show c.1200+5562_1200+5609dupTAAATATATATAAAAATATATATATA AATATATATATAAATATATATA		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO1_chr3_78592239_79772998	78718835	A A	AGAGGGAG others(41): Show AGAGGGAGAGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGCAGGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02717.hp2 others(6): Show HG01243.hp2 HG02280.hp2 HG02717.hp2 HG03139.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0005t0002 a0001c0005t0005	a0001c0001t0014g0041 a0001c0002t0001g0019 a0001c0002t0001g0026 others(6): Show a0001c0001t0014g0041 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004	9	44	0.2045	48	c.658 others(63): Show c.658-953_658-952insCCTCCCTGCCTCCCTCCCTCCCTCTCTCCC TCCCTCCCTCTCTCCCTC		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	5/30						chr3	TogoVar
ROBO1_chr3_78592239_79772998	79575227	A A	AATATATA others(41): Show AATATATATAAATATATATAACAAATATATATAAATATATATAACAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03041.hp1 others(4): Show HG01884.hp2 HG02280.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG06807.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0006 a0002c0004t0007	a0001c0001t0001g0018 a0001c0001t0005g0035 a0001c0002t0001g0019 others(4): Show a0001c0001t0001g0018 a0001c0001t0005g0035 a0001c0002t0001g0019 a0001c0002t0003g0016 a0001c0003t0006g0020 a0002c0004t0007g0009 a0002c0004t0007g0010	7	44	0.1591	48	c.88+ others(65): Show c.88+14549_88+14596dupATTTGTTATATATATTTATATATATTTG TTATATATATTTATATATAT		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108229	C C	CATATATA others(41): Show CATATATATGTATACACATATGCATATATATGTATACACATATGCATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	156	0.0064	48	c.388 others(65): Show c.388+9920_388+9967dupGTATACACATATGCATATATATATATGT ATACACATATGCATATATAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(41): Show ATATAAAAAATAATATATATTTTATATAATATATATAATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp2 others(36): Show HG00438.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG02040.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03710.hp2 NA18955.hp2 NA18978.hp2 NA18989.hp1 NA18991.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(36): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0012g0009 a0001c0001t0012g0017 a0001c0001t0017g0211 a0001c0001t0017g0212 a0001c0001t0031g0210	39	201	0.1940	48	c.351 others(65): Show c.3512+905_3512+906insAAATATATATATTATATATATTATATAA AATATATATTATTTTTTATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	20958934	A A	ATATAAAA others(41): Show ATATAAAAAATAATATATATTTTATATAATATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18962.hp2 NA18969.hp2 others(4): Show NA18944.hp1 NA18962.hp2 NA18969.hp2 NA19064.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0183	7	169	0.0414	48	c.351 others(65): Show c.3512+905_3512+906insAAATATATATAATATATATATTATATAA AATATATATTATTTTTTATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(41): Show ATATATATATTATATAATATATATATTATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	198	0.0051	48	c.351 others(65): Show c.3512+707_3512+708insATATATATATTATATAATATATAATATA TATATTATATAATATATATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
RORA_chr15_60483284_61234302	60516039	T T	TTATATAT others(41): Show TTATATATATTTATATATTTATATATATTTATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0035 a0001c0001t0023g0020 a0001c0001t0001g0035 a0001c0001t0023g0020	2	99	0.0202	48	c.283 others(65): Show c.283-1283_283-1282insTAAATATATAAATATATATAAATATATA TAAATATATAAATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10						chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01358.hp1 HG02965.hp1 HG00438.hp2 HG01358.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0009 a0001c0006t0004 a0001c0001t0005 a0001c0001t0009 a0001c0006t0004	a0001c0001t0005g0049 a0001c0001t0009g0010 a0001c0006t0004g0078 a0001c0001t0005g0049 a0001c0001t0009g0010 a0001c0006t0004g0078	3	9	0.3333	48	c.166 others(69): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATATATAT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORB_chr9_74492335_74698177	74532803	C C	CGTATATA others(41): Show CGTATATATATACACATATATATGTGTATATATATACACATATATATGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03195.hp1 HG02280.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0038 a0001c0001t0001 a0001c0001t0010 a0001c0001t0038	a0001c0001t0001g0161 a0001c0001t0010g0160 a0001c0001t0038g0162 a0001c0001t0001g0161 a0001c0001t0010g0160 a0001c0001t0038g0162	3	214	0.0140	48	c.7+3 others(63): Show c.7+34866_7+34867insGTGTATATATATACACATATATATGTGTAT ATATATACACATATATAT		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RP1L1_chr8_10601349_10660143	10607512	T T	TACCTTCT others(41): Show TACCTTCTGACTCTGGCTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18941.hp2 NA18960.hp2 NA18962.hp1 NA18941.hp2 NA18960.hp2 NA18962.hp1	a0008 a0136 a0008 a0136	a0008c0135 a0008c0136 a0136c0085 a0008c0135 a0008c0136 a0136c0085	a0008c0135t0002 a0008c0136t0002 a0136c0085t0002 a0008c0135t0002 a0008c0136t0002 a0136c0085t0002	a0008c0135t0002g0045 a0008c0136t0002g0188 a0136c0085t0002g0044 a0008c0135t0002g0045 a0008c0136t0002g0188 a0136c0085t0002g0044	3	412	0.0073	48	c.653 others(57): Show c.6538_6585dupGTAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAGCCA GAGTCAGAAGGT	p.Gly others(63): Show p.Gly2195_Ile2196insValGluAlaProGluAlaGluGlyGluAla GlnProGluSerGluGly	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	6850/8014	6585/7203	2195/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10608384	C C	CCTTCTGA others(41): Show CCTTCTGACTCTGGCTGGACCTCCCATTCTGCCTCTGGGGTCTCTACAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG00621.hp1	a0057 a0057	a0057c0093 a0057c0093	a0057c0093t0004 a0057c0093t0004	a0057c0093t0004g0105 a0057c0093t0004g0105	1	412	0.0024	48	c.566 others(57): Show c.5666_5713dupATGTAGAGACCCCAGAGGCAGAATGGGAGGTCCAGC CAGAGTCAGAAG	p.Asp others(15): Show p.Asp1889_Glu1904dup	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	5978/8014	5713/7203	1905/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTC others(41): Show CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG02809.hp2 HG03098.hp1 others(1): Show HG01891.hp1 HG02809.hp2 HG03098.hp1 HG03471.hp2	a0018 a0100 a0018 a0100	a0018c0055 a0018c0145 a0100c0088 a0018c0055 a0018c0145 a0100c0088	a0018c0055t0005 a0018c0145t0005 a0100c0088t0005 a0018c0055t0005 a0018c0145t0005 a0100c0088t0005	a0018c0055t0005g0369 a0018c0055t0005g0370 a0018c0145t0005g0404 others(1): Show a0018c0055t0005g0369 a0018c0055t0005g0370 a0018c0145t0005g0404 a0100c0088t0005g0372	4	309	0.0129	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02109.hp1	a0018 a0018	a0018c0169 a0018c0169	a0018c0169t0005 a0018c0169t0005	a0018c0169t0005g0406 a0018c0169t0005g0406	1	306	0.0033	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp1 HG01978.hp2 HG01106.hp1 HG01978.hp2	a0036 a0036	a0036c0036 a0036c0036	a0036c0036t0003 a0036c0036t0003	a0036c0036t0003g0307 a0036c0036t0003g0316 a0036c0036t0003g0307 a0036c0036t0003g0316	2	307	0.0065	48	c.397 others(57): Show c.3979_4026dupACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(34): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01975.hp1 HG02040.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18989.hp1 NA18993.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp1	a0001 a0012 a0020 others(14): Show a0001 a0012 a0020 a0023 a0028 a0035 a0041 a0043 a0081 a0088 a0094 a0105 a0107 a0110 a0113 a0117 a0119	a0001c0006 a0001c0113 a0012c0204 others(17): Show a0001c0006 a0001c0113 a0012c0204 a0020c0014 a0023c0020 a0028c0054 a0028c0161 a0035c0031 a0041c0185 a0041c0186 a0043c0057 a0081c0102 a0088c0167 a0094c0195 a0105c0160 a0107c0147 a0110c0197 a0113c0165 a0117c0192 a0119c0183	a0001c0006t0001 a0001c0113t0001 a0012c0204t0001 others(19): Show a0001c0006t0001 a0001c0113t0001 a0012c0204t0001 a0020c0014t0001 a0023c0020t0001 a0023c0020t0007 a0028c0054t0015 a0028c0054t0016 a0028c0161t0010 a0035c0031t0012 a0041c0185t0003 a0041c0186t0010 a0043c0057t0018 a0081c0102t0001 a0088c0167t0008 a0094c0195t0013 a0105c0160t0010 a0107c0147t0001 a0110c0197t0007 a0113c0165t0009 a0117c0192t0017 a0119c0183t0003	a0001c0006t0001g0060 a0001c0006t0001g0079 a0001c0006t0001g0081 others(33): Show a0001c0006t0001g0060 a0001c0006t0001g0079 a0001c0006t0001g0081 a0001c0006t0001g0089 a0001c0006t0001g0121 a0001c0006t0001g0136 a0001c0006t0001g0137 a0001c0006t0001g0196 a0001c0006t0001g0206 a0001c0006t0001g0218 a0001c0113t0001g0018 a0012c0204t0001g0065 a0020c0014t0001g0139 a0020c0014t0001g0183 a0020c0014t0001g0189 a0020c0014t0001g0223 a0023c0020t0001g0076 a0023c0020t0001g0102 a0023c0020t0007g0281 a0028c0054t0015g0408 a0028c0054t0016g0384 a0028c0161t0010g0030 a0035c0031t0012g0277 a0035c0031t0012g0278 a0041c0185t0003g0263 a0041c0186t0010g0033 a0043c0057t0018g0003 a0081c0102t0001g0249 a0088c0167t0008g0345 a0094c0195t0013g0252 a0105c0160t0010g0034 a0107c0147t0001g0031 a0110c0197t0007g0379 a0113c0165t0009g0264 a0117c0192t0017g0403 a0119c0183t0003g0391	37	260	0.1423	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG01993.hp2 HG00639.hp2 HG01993.hp2	a0034 a0034	a0034c0034 a0034c0034	a0034c0034t0005 a0034c0034t0005	a0034c0034t0005g0314 a0034c0034t0005g0325 a0034c0034t0005g0314 a0034c0034t0005g0325	2	225	0.0089	48	c.401 others(57): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00140.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp2 HG02148.hp1 HG02300.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0008 a0026 others(8): Show a0001 a0008 a0026 a0058 a0061 a0066 a0075 a0111 a0120 a0123 a0146	a0001c0001 a0001c0047 a0001c0110 others(11): Show a0001c0001 a0001c0047 a0001c0110 a0001c0128 a0008c0139 a0026c0025 a0058c0116 a0061c0106 a0066c0108 a0075c0082 a0111c0072 a0120c0189 a0123c0193 a0146c0149	a0001c0001t0001 a0001c0001t0007 a0001c0047t0001 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0047t0001 a0001c0110t0001 a0001c0128t0007 a0008c0139t0001 a0026c0025t0001 a0026c0025t0007 a0058c0116t0008 a0061c0106t0001 a0066c0108t0001 a0075c0082t0001 a0111c0072t0021 a0120c0189t0030 a0123c0193t0009 a0146c0149t0006	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(42): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0007g0269 a0001c0001t0007g0331 a0001c0047t0001g0073 a0001c0047t0001g0199 a0001c0110t0001g0038 a0001c0128t0007g0341 a0008c0139t0001g0113 a0026c0025t0001g0078 a0026c0025t0007g0282 a0026c0025t0007g0283 a0058c0116t0008g0273 a0061c0106t0001g0230 a0066c0108t0001g0124 a0075c0082t0001g0101 a0111c0072t0021g0022 a0120c0189t0030g0396 a0123c0193t0009g0374 a0146c0149t0006g0017	45	268	0.1679	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0071 a0071	a0071c0153 a0071c0153	a0071c0153t0003 a0071c0153t0003	a0071c0153t0003g0293 a0071c0153t0003g0293	1	396	0.0025	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGlyThrLysValIle GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG02818.hp2 HG02970.hp1 others(6): Show HG00408.hp1 HG02818.hp2 HG02970.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 NA19074.hp1 NA19240.hp2	a0022 a0030 a0101 others(2): Show a0022 a0030 a0101 a0106 a0150	a0022c0018 a0030c0017 a0101c0194 others(2): Show a0022c0018 a0030c0017 a0101c0194 a0106c0175 a0150c0152	a0022c0018t0003 a0022c0018t0006 a0030c0017t0003 others(4): Show a0022c0018t0003 a0022c0018t0006 a0030c0017t0003 a0030c0017t0006 a0101c0194t0011 a0106c0175t0003 a0150c0152t0003	a0022c0018t0003g0343 a0022c0018t0003g0347 a0022c0018t0006g0010 others(5): Show a0022c0018t0003g0343 a0022c0018t0003g0347 a0022c0018t0006g0010 a0030c0017t0003g0004 a0030c0017t0006g0096 a0101c0194t0011g0029 a0106c0175t0003g0261 a0150c0152t0003g0266	9	404	0.0223	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00733.hp2 others(43): Show HG00099.hp2 HG00280.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 NA18906.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0003 a0007 a0013 others(6): Show a0003 a0007 a0013 a0017 a0059 a0064 a0095 a0154 a0155	a0003c0003 a0003c0012 a0003c0069 others(15): Show a0003c0003 a0003c0012 a0003c0069 a0007c0009 a0007c0156 a0007c0157 a0007c0158 a0013c0044 a0013c0059 a0013c0096 a0013c0098 a0017c0019 a0017c0060 a0059c0097 a0064c0105 a0095c0065 a0154c0061 a0155c0071	a0003c0003t0003 a0003c0003t0006 a0003c0012t0003 others(18): Show a0003c0003t0003 a0003c0003t0006 a0003c0012t0003 a0003c0069t0003 a0007c0009t0003 a0007c0009t0006 a0007c0156t0006 a0007c0157t0009 a0007c0158t0006 a0013c0044t0003 a0013c0059t0003 a0013c0096t0003 a0013c0098t0003 a0017c0019t0003 a0017c0019t0006 a0017c0060t0003 a0059c0097t0003 a0064c0105t0003 a0095c0065t0003 a0154c0061t0005 a0155c0071t0003	a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0301 others(43): Show a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0301 a0003c0003t0003g0303 a0003c0003t0003g0306 a0003c0003t0003g0318 a0003c0003t0003g0319 a0003c0003t0003g0320 a0003c0003t0003g0322 a0003c0003t0003g0324 a0003c0003t0003g0327 a0003c0003t0003g0354 a0003c0003t0003g0357 a0003c0003t0003g0358 a0003c0003t0003g0407 a0003c0003t0006g0140 a0003c0012t0003g0304 a0003c0012t0003g0305 a0003c0012t0003g0308 a0003c0012t0003g0309 a0003c0012t0003g0313 a0003c0069t0003g0310 a0007c0009t0003g0382 a0007c0009t0003g0387 a0007c0009t0003g0389 a0007c0009t0003g0400 a0007c0009t0006g0242 a0007c0009t0006g0246 a0007c0009t0006g0251 a0007c0156t0006g0220 a0007c0157t0009g0366 a0007c0158t0006g0247 a0013c0044t0003g0326 a0013c0044t0003g0338 a0013c0059t0003g0367 a0013c0096t0003g0398 a0013c0098t0003g0321 a0017c0019t0003g0295 a0017c0019t0003g0383 a0017c0019t0006g0241 a0017c0060t0003g0292 a0059c0097t0003g0353 a0064c0105t0003g0312 a0095c0065t0003g0315 a0154c0061t0005g0386 a0155c0071t0003g0385	46	322	0.1429	48	c.397 others(57): Show c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610143	C C	TCTCTTCT others(41): Show TCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0087 a0087	a0087c0070 a0087c0070	a0087c0070t0007 a0087c0070t0007	a0087c0070t0007g0296 a0087c0070t0007g0296	1	411	0.0024	48	c.395 others(57): Show c.3955_3956insGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGC TGCAAGAAGAGA	p.Ala others(61): Show p.Ala1319delinsGlyValGlnLeuGluGlyThrLysValIleGluGl yLeuGlnGluGluThr	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4220/8014	3955/7203	1319/2400			chr8	TogoVar
RP2_chrX_46832043_46887358	46847717	T T	TATATGTG others(41): Show TATATGTGTGTGTGTATATACACACATATGTGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02647.hp1 HG01943.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0161 a0001c0001t0001g0037 a0001c0001t0001g0161	2	236	0.0085	48	c.103 others(65): Show c.103-5756_103-5709dupATGTGTGTGTGTATATACACACATATGT GTGTGTGTATATACACACAT		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RP2_chrX_46832043_46887358	46847787	C C	CATATGTG others(41): Show CATATGTGTGTGTGTATATACACACATATGTGTGTGTATATACACACAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	152	0.0066	48	c.103 others(65): Show c.103-5687_103-5686insATGTGTGTGTGTATATACACACATATGT GTGTGTATATACACACATAT		RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA2_chr1_27886524_27919575	27916916	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCTCCCTCGCCTTCCTTCCTCCTCCTTCCTTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	337	0.0030	48	c.-24 others(59): Show c.-2474_-2473insAGGAAGAAGGAAGGAGGAGGAAGGAAGGCGAGGG AGGAGGGAGGGAGG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2342		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678803	T T	TATATATT others(41): Show TATATATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0104 a0001c0001t0012g0290 a0001c0001t0001g0104 a0001c0001t0012g0290	2	304	0.0066	48	c.-75 others(67): Show c.-758+7026_-758+7027insTTATAAACTAAATATATAAATATTTA TAAACTAAATACATAAATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(41): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01071.hp1 NA18974.hp2 HG00639.hp2 HG01071.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0181 a0001c0001t0046 a0001c0001t0181	a0001c0001t0046g0005 a0001c0001t0046g0139 a0001c0001t0181g0136 a0001c0001t0046g0005 a0001c0001t0046g0139 a0001c0001t0181g0136	3	9	0.3333	48	c.-24 others(57): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	48	c.-17 others(59): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(41): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA18979.hp2 HG01168.hp2 HG01169.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0005 a0001c0001t0006g0006 a0001c0001t0005g0005 a0001c0001t0006g0006	3	256	0.0117	48	c.72 others(59): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGATAGATA GACAGACAGACAGA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					4988		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(41): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	370	0.0027	48	c.-45 others(59): Show c.-4522_-4521insAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA		RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding					4415		chr17	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATACACA others(41): Show TATACACACACGTATATATATATATACACACACGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	93	0.0108	48	c.49 others(59): Show c.4983_*4984insATACACACACGTATATATATATATACACACACGT ATATATATATATAC		RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding					4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(41): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02071.hp1 others(5): Show HG01109.hp1 HG01891.hp2 HG02071.hp1 HG02257.hp2 NA18940.hp1 NA18983.hp2 NA19006.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0153 a0001c0001t0001g0229 a0001c0001t0001g0244 others(5): Show a0001c0001t0001g0153 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0276 a0001c0001t0004g0227 a0001c0001t0004g0231 a0001c0001t0004g0248 a0001c0001t0010g0242	8	15	0.5333	48	c.790 others(67): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATATACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(41): Show GTGTGTATATGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	8	0.1250	48	c.790 others(67): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATACATATACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(41): Show GTGTGTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	8	0.1250	48	c.790 others(67): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATACATACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(41): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp1 HG02698.hp2 others(2): Show HG02683.hp2 HG02698.hp1 HG02698.hp2 NA18977.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0189 a0001c0001t0001g0206 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0004g0215 a0001c0001t0012g0209	5	12	0.4167	48	c.790 others(67): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATATACACACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar

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